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Anand Swaroop

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Igor O Nasonkin; Jacob Nellissery; Verity F Oliver; Krushangi Patel; Rivka A Rachel; Enrique J Rodriguez-Boulan; Donald J Zack; Kapil Bharti; Matthew Brooks; Raymond A Enke; Robert N Fariss; Milan Jamrich; Kevin Lazo; Yun Z Le; Shannath L Merbs; Anand Swaroop
Conditional knockdown of DNA methyltransferase 1 reveals a key role of retinal pigment epithelium integrity in photoreceptor outer segment morphogenesis.
Hong Liu; Lily Ng; Anand Swaroop; Xuefeng Wu; Yulong Fu; Soo-Young Kim; Douglas Forrest
An isoform of retinoid-related orphan receptor β directs differentiation of retinal amacrine and horizontal interneurons.
Kari E H Branham; Matthew Brumm; Maria Laura Ciccarelli; Jacque L Duncan; Gerald A Fishman; John R Heckenlively; Alessandro Iannaccone; Samuel G Jacobson; K Thiran Jayasundera; Barbara Jennings; Athanasios J Karoukis; Richard A Lewis; Mohammad Othman; Sharon B Schwartz; Paul Sieving; Niamh B Stover; sten andreasson; Pelin Atmaca Sonmez; Jean Bennett; David Birch; Karmen M Trzupek; Richard G Weleber; Dianna Wheaton; Beverly M Yashar; Anand Swaroop
Mutations in RPGR and RP2 account for 15% of males with simplex retinal degenerative disease.

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2013: Igor O Nasonkin; Jacob Nellissery; Verity F Oliver; Krushangi Patel; Rivka A Rachel; Enrique J Rodriguez-Boulan; Donald J Zack; Kapil Bharti; Matthew Brooks; Raymond A Enke; Robert N Fariss; Milan Jamrich; Kevin Lazo; Yun Z Le; Shannath L Merbs; Anand Swaroop
Conditional knockdown of DNA methyltransferase 1 reveals a key role of retinal pigment epithelium integrity in photoreceptor outer segment morphogenesis.
Development (Cambridge, England) 2013;140(6):1330-41.
2013: Hong Liu; Lily Ng; Anand Swaroop; Xuefeng Wu; Yulong Fu; Soo-Young Kim; Douglas Forrest
An isoform of retinoid-related orphan receptor β directs differentiation of retinal amacrine and horizontal interneurons.
Nature communications 2013;4():1813.
2012: Kari E H Branham; Matthew Brumm; Maria Laura Ciccarelli; Jacque L Duncan; Gerald A Fishman; John R Heckenlively; Alessandro Iannaccone; Samuel G Jacobson; K Thiran Jayasundera; Barbara Jennings; Athanasios J Karoukis; Richard A Lewis; Mohammad Othman; Sharon B Schwartz; Paul Sieving; Niamh B Stover; sten andreasson; Pelin Atmaca Sonmez; Jean Bennett; David Birch; Karmen M Trzupek; Richard G Weleber; Dianna Wheaton; Beverly M Yashar; Anand Swaroop
Mutations in RPGR and RP2 account for 15% of males with simplex retinal degenerative disease.
Investigative ophthalmology & visual science 2012;53(13):8232-7.
2012: Rinki Ratna Priya; Emily Y Chew; Anand Swaroop
Genetic studies of age-related macular degeneration: lessons, challenges, and opportunities for disease management.
Ophthalmology 2012;119(12):2526-36.
2012: Douglas Forrest; Anand Swaroop
Minireview: the role of nuclear receptors in photoreceptor differentiation and disease.
Molecular endocrinology (Baltimore, Md.) 2012;26(6):905-15.
2012: Rivka A Rachel; Tiansen Li; Anand Swaroop
Photoreceptor sensory cilia and ciliopathies: focus on CEP290, RPGR and their interacting proteins.
Cilia 2012;1(1):22.
2012: Wei Chieh Huang; Peter Bell; Artur Vahe Cideciyan; Dina Y Gewaily; Maria P Limberis; Forbes D Manson; Alejandro J Roman; Sam Sadigh; Sharon B Schwartz; Anand Swaroop; James M Wilson; Alan F Wright; Samuel G Jacobson
RPGR-associated retinal degeneration in human X-linked RP and a murine model.
Investigative ophthalmology & visual science 2012;53(9):5594-608.
2012: Jerome E Roger; Jacob Nellissery; Anand Swaroop
Determination of posttranslational modifications of photoreceptor differentiation factor NRL: focus on SUMOylation.
Methods in molecular biology (Clifton, N.J.) 2012;884():353-61.
2012: Rinki Ratna Priya; Harsha Karur Rajasimha; Matthew J Brooks; Anand Swaroop
Exome sequencing: capture and sequencing of all human coding regions for disease gene discovery.
Methods in molecular biology (Clifton, N.J.) 2012;884():335-51.
2012: Matthew J Brooks; Harsha Karur Rajasimha; Anand Swaroop
Retinal transcriptome profiling by directional next-generation sequencing using 100 ng of total RNA.
Methods in molecular biology (Clifton, N.J.) 2012;884():319-34.
2012: Debra A Thompson; Zhijian Wu; Bo Chang; Peter Colosi; Garrett Grahek; Suja Hiriyanna; Lin Jia; Naheed W Khan; Hemant Khanna; Tiansen Li; Jacob Nellissery; Mohammad I Othman; Anand Swaroop; John R Heckenlively
Rd9 is a naturally occurring mouse model of a common form of retinitis pigmentosa caused by mutations in RPGR-ORF15.
PloS one 2012;7(5):e35865.
2012: Dustin Hambright; Ron McKay; Kye-Yoon Park; Anand Swaroop; Matthew Brooks; Igor O Nasonkin
Long-term survival and differentiation of retinal neurons derived from human embryonic stem cell lines in un-immunosuppressed mouse retina.
Molecular vision 2012;18():920-36.
2012: Hong Hao; Kory R Johnson; Douglas S Kim; Bernward Klocke; Weiqun Peng; Martin Seifert; Kairong Cui; Yang Fann; Linn Gieser; Norimoto Gotoh; Janina Gregorski; Chongzhi Zang; Keji Zhao; Anand Swaroop
Transcriptional regulation of rod photoreceptor homeostasis revealed by in vivo NRL targetome analysis.
PLoS genetics 2012;8(4):e1002649.
2012: Shobi Veleri; Kevin Bishop; Ajay Chitnis; Damian E Dalle Nogare; Milton A English; Trevor J Foskett; Paul Liu; Raman Sood; Anand Swaroop
Knockdown of Bardet-Biedl syndrome gene BBS9/PTHB1 leads to cilia defects.
PloS one 2012;7(3):e34389.
2012: Yagya V Sharma; Anand Swaroop; Matthew Brooks; Radu I Cojocaru; Nidhi Khattree; Linda M Ritter; Alison Scott; Andrew F X Goldberg
Protective gene expression changes elicited by an inherited defect in photoreceptor structure.
PloS one 2012;7(2):e31371.
2011: Hong Hao; Raghuveer S Mali; Janina Gregorski; Eduardo Guzman; Anand Swaroop; Padmaja Tummala; kenneth mitton
The transcription factor neural retina leucine zipper (NRL) controls photoreceptor-specific expression of myocyte enhancer factor Mef2c from an alternative promoter.
The Journal of biological chemistry 2011;286(40):34893-902.
2011: Marie-Audrey I Kautzmann; Douglas S Kim; Marie-Paule Felder-Schmittbuhl; Anand Swaroop
Combinatorial regulation of photoreceptor differentiation factor, neural retina leucine zipper gene NRL, revealed by in vivo promoter analysis.
The Journal of biological chemistry 2011;286(32):28247-55.
2011: Lily Ng; David S Sharlin; Anand Swaroop; Alok Swaroop; Ailing Lu; Douglas Forrest
Two transcription factors can direct three photoreceptor outcomes from rod precursor cells in mouse retinal development.
The Journal of neuroscience : the official journal of the Society for Neuroscience 2011;31(31):11118-25.
2011: Igor O Nasonkin; Kevin Lazo; Dustin Hambright; Matthew Brooks; Robert Fariss; Anand Swaroop
Distinct nuclear localization patterns of DNA methyltransferases in developing and mature mammalian retina.
The Journal of comparative neurology 2011;519(10):1914-30.
2011: Christina F Chakarova; Hemant Khanna; Amna Z Shah; Suresh B Patil; Tina Sedmak; Carlos A Murga-Zamalloa; Myrto G Papaioannou; Kerstin Nagel-Wolfrum; Irma Lopez; Peter Munro; Michael Cheetham; Robert K Koenekoop; Rosa M Rios; Karl Matter; Uwe Wolfrum; Anand Swaroop; Shomi S Bhattacharya
TOPORS, implicated in retinal degeneration, is a cilia-centrosomal protein.
Human molecular genetics 2011;20(5):975-87.
2011: Jingyu Yao; Kecia L Feathers; Hemant Khanna; Debra A Thompson; Catherine Tsilfidis; William W Hauswirth; John R Heckenlively; Anand Swaroop; David N Zacks
XIAP therapy increases survival of transplanted rod precursors in a degenerating host retina.
Investigative ophthalmology & visual science 2011;52(3):1567-72.
2011: Chloe M Stanton; Anand Swaroop; Marius Ueffing; John R W Yates; Yi Yu; Kanda Atsuhiro; Kari E H Branham; Kevin Chalmers; Wei Chen; Anneke I den Hollander; Baljean Dhillon; Sascha Fauser; Caroline Hayward; Carel Hoyng; Elod Kortvely; Anthony T Moore; Mohammad Othman; Johanna M Seddon; Dwight Stambolian; Alan F Wright
Complement factor D in age-related macular degeneration.
Investigative ophthalmology & visual science 2011;52(12):8828-34.
2010: Keith H Baratz; Nirubol Tosakulwong; Euijung Ryu; William L Brown; Kari E H Branham; Wei Chen; Khoa D Tran; Katharina E Schmid-Kubista; John R Heckenlively; Anand Swaroop; Goncalo Abecasis; Kent R Bailey; Albert O Edwards
E2-2 protein and Fuchs's corneal dystrophy.
The New England journal of medicine 2010;363(11):1016-24.
2010: James S Friedman; Bo Chang; Daniel S Krauth; Irma Lopez; Naushin H Waseem; Ron E Hurd; Kecia L Feathers; Kari E H Branham; Manessa Shaw; George E Thomas; Matthew J Brooks; Chunqiao Liu; Hirva A Bakeri; Maria M Campos; Cecilia Maubaret; Andrew R Webster; Ignacio R Rodriguez; Debra A Thompson; Shomi S Bhattacharya; Robert K Koenekoop; John R Heckenlively; Anand Swaroop
Loss of lysophosphatidylcholine acyltransferase 1 leads to photoreceptor degeneration in rd11 mice.
Proceedings of the National Academy of Sciences of the United States of America 2010;107(35):15523-8.
2010: Jerome E Roger; Jacob Nellissery; Douglas S Kim; Anand Swaroop
Sumoylation of bZIP transcription factor NRL modulates target gene expression during photoreceptor differentiation.
The Journal of biological chemistry 2010;285(33):25637-44.
2010: Anand Swaroop; Douglas Kim; Douglas Forrest
Transcriptional regulation of photoreceptor development and homeostasis in the mammalian retina.
Nature reviews. Neuroscience 2010;11(8):563-76.
2010: Thiran Jayasundera; Kari E H Branham; Mohammad I Othman; William R Rhoades; Athanasios J Karoukis; Babak Behnam; Anand Swaroop; John R Heckenlively
RP2 phenotype and pathogenetic correlations in X-linked retinitis pigmentosa.
Archives of ophthalmology 2010;128(7):915-23.
2010: Therése Hugosson; James S Friedman; Vesna Ponjavic; Magnus Abrahamson; Anand Swaroop; Sten Andréasson
Phenotype associated with mutation in the recently identified autosomal dominant retinitis pigmentosa KLHL7 gene.
Archives of ophthalmology 2010;128(6):772-8.
2010: Lorenzo L Nichols; Ramakrishna P Alur; Elangovan Boobalan; Yuri V Sergeev; Rafael C Caruso; Edwin M Stone; Anand Swaroop; Mary A Johnson; Brian P Brooks
Two novel CRX mutant proteins causing autosomal dominant Leber congenital amaurosis interact differently with NRL.
Human mutation 2010;31(6):E1472-83.
2010: Jon Permanyer; Rafael Navarro; James Friedman; Esther Pomares; Joaquín Castro-Navarro; Gemma Marfany; Anand Swaroop; Roser Gonzàlez-Duarte
Autosomal recessive retinitis pigmentosa with early macular affectation caused by premature truncation in PROM1.
Investigative ophthalmology & visual science 2010;51(5):2656-63.
2010: D M Wu; Babak Behnam; Pelin Atmaca Sonmez; Paul Sieving; Kari E H Branham; Mohammad I Othman; Anand Swaroop; Stephen P Daiger; John R Heckenlively
Long-term follow-up of a family with dominant X-linked retinitis pigmentosa.
Eye (London, England) 2010;24(5):764-74.
2010: Laszlo Hackler; Jun Wan; Anand Swaroop; Jiang Qian; Donald J Zack
MicroRNA profile of the developing mouse retina.
Investigative ophthalmology & visual science 2010;51(4):1823-31.
2010: Sunil K Parapuram; Radu I Cojocaru; Jessica R Chang; Ritu Khanna; Matthew Brooks; Mohammad Othman; Sepideh Zareparsi; Naheed W Khan; Gotoh Norimoto; Tiziana Cogliati; Anand Swaroop
Distinct signature of altered homeostasis in aging rod photoreceptors: implications for retinal diseases.
PloS one 2010;5(11):e13885.
2010: Carlos Murga-Zamalloa; Anand Swaroop; Hemant Khanna
Multiprotein complexes of Retinitis Pigmentosa GTPase regulator (RPGR), a ciliary protein mutated in X-linked Retinitis Pigmentosa (XLRP).
Advances in experimental medicine and biology 2010;664():105-14.
2010: Amiya K Ghosh; Carlos A Murga-Zamalloa; Lansze Chan; Peter F Hitchcock; Anand Swaroop; Babak Behnam
Human retinopathy-associated ciliary protein retinitis pigmentosa GTPase regulator mediates cilia-dependent vertebrate development.
Human molecular genetics 2010;19(1):90-8.
2009: Carlos A Murga-Zamalloa; Anand Swaroop; Babak Behnam
RPGR-containing protein complexes in syndromic and non-syndromic retinal degeneration due to ciliary dysfunction.
Journal of genetics 2009;88(4):399-407.
2009: Li Jia; Edwin C T Oh; Lily Ng; Maya Srinivas; Matthew Brooks; Anand Swaroop; Douglas Forrest
Retinoid-related orphan nuclear receptor RORbeta is an early-acting factor in rod photoreceptor development.
Proceedings of the National Academy of Sciences of the United States of America 2009;106(41):17534-9.
2009: Jared D Chrispell; Kecia L Feathers; Maureen Kane; Chul Y Kim; Matthew Brooks; Ritu Khanna; Ingo Kurth; Christian A Hübner; Andreas Gal; Alan J Mears; Anand Swaroop; Joseph L Napoli; Janet R Sparrow; Debra A Thompson
Rdh12 activity and effects on retinoid processing in the murine retina.
The Journal of biological chemistry 2009;284(32):21468-77.
2009: James S Friedman; Joseph W Ray; Naushin Waseem; Kory Johnson; Matthew J Brooks; Therése Hugosson; Debra Breuer; Kari E H Branham; Daniel S Krauth; Sara J Bowne; Lori S Sullivan; Vesna Ponjavic; Lotta Gränse; Ritu Khanna; Edward H Trager; Linn M Gieser; Dianna Hughbanks-Wheaton; Radu I Cojocaru; Noor M Ghiasvand; Christina F Chakarova; Magnus Abrahamson; Harald HH Goring; Andrew R Webster; David G Birch; Goncalo R Abecasis; Yang Fann; Shomi S Bhattacharya; Stephen P Daiger; John R Heckenlively; Sten Andréasson; Anand Swaroop
Mutations in a BTB-Kelch protein, KLHL7, cause autosomal-dominant retinitis pigmentosa.
American journal of human genetics 2009;84(6):792-800.
2009: Hemant Khanna; Erica E Davis; Carlos A Murga-Zamalloa; Alejandro Estrada-Cuzcano; Irma Lopez; Anneke I den Hollander; Marijke N Zonneveld; Mohammad I Othman; Naushin Waseem; Christina F Chakarova; Cecilia Maubaret; Anna Diaz-Font; Ian MacDonald; Donna M Muzny; David A Wheeler; Margaret Morgan; Lora R Lewis; Clare V Logan; Perciliz L Tan; MICHAEL BEER; Chris F Inglehearn; Richard A Lewis; Samuel G Jacobson; Carsten Bergmann; Philip L Beales; Tania Attié-Bitach; Colin A Johnson; Edgar Otto; Shomi S Bhattacharya; Friedhelm Hildebrandt; Richard A Gibbs; Robert K Koenekoop; Anand Swaroop; Nicholas Katsanis
A common allele in RPGRIP1L is a modifier of retinal degeneration in ciliopathies.
Nature genetics 2009;41(6):739-45.
2009: W S Layman; Dyke P McEwen; Lisa A Beyer; S R Lalani; S D Fernbach; E Oh; Anand Swaroop; Colleen C Hegg; Yehoash Raphael; Jeffrey R Martens; Donna M Martin
Defects in neural stem cell proliferation and olfaction in Chd7 deficient mice indicate a mechanism for hyposmia in human CHARGE syndrome.
Human molecular genetics 2009;18(11):1909-23.
2009: Anna V Kukekova; Orly Goldstein; Jennifer L Johnson; Malcolm A Richardson; Susan E Pearce-Kelling; Anand Swaroop; James S Friedman; Gustavo D Aguirre; Gregory M Acland
Canine RD3 mutation establishes rod-cone dysplasia type 2 (rcd2) as ortholog of human and murine rd3.
Mammalian genome : official journal of the International Mammalian Genome Society 2009;20(2):109-23.
2009: Atsuhiro Kanda; Anand Swaroop
A comprehensive analysis of sequence variants and putative disease-causing mutations in photoreceptor-specific nuclear receptor NR2E3.
Molecular vision 2009;15():2174-84.
2009: Anand Swaroop; Emily Y Chew; Catherine Bowes Rickman; Gonçalo R Abecasis
Unraveling a multifactorial late-onset disease: from genetic susceptibility to disease mechanisms for age-related macular degeneration.
Annual review of genomics and human genetics 2009;10():19-43.
2008: Edwin C T Oh; Hong Cheng; Hong Hao; Lin Jia; Naheed W Khan; Anand Swaroop
Rod differentiation factor NRL activates the expression of nuclear receptor NR2E3 to suppress the development of cone photoreceptors.
Brain research 2008;1236():16-29.
2008: William Y Tsang; Carine Bossard; Hemant Khanna; Johan Peränen; Anand Swaroop; Vivek Malhotra; Brian David Dynlacht
CP110 suppresses primary cilia formation through its interaction with CEP290, a protein deficient in human ciliary disease.
Developmental cell 2008;15(2):187-97.
2008: Sandrine Siffroi-Fernandez; Marie-Paule Felder-Schmittbuhl; Hemant Khanna; Anand Swaroop; David Hicks
FGF19 exhibits neuroprotective effects on adult mammalian photoreceptors in vitro.
Investigative ophthalmology & visual science 2008;49(4):1696-704.
2008: Albert O Edwards; Dequan Chen; Brooke L Fridley; Katherine M James; Yanhong Wu; Goncalo Abecasis; Anand Swaroop; Mohammad Othman; Kari E H Branham; Sudha K Iyengar; Theru A Sivakumaran; Ronald Klein; Barbara E K Klein; Nirubol Tosakulwong
Toll-like receptor polymorphisms and age-related macular degeneration.
Investigative ophthalmology & visual science 2008;49(4):1652-9.
2008: Atsuhiro Kanda; Goncalo Abecasis; Anand Swaroop
Inflammation in the pathogenesis of age-related macular degeneration.
The British journal of ophthalmology 2008;92(4):448-50.
2008: Saloni Walia; Gerald A Fishman; Anand Swaroop; Kari E H Branham; Martin Lindeman; Mohammad Othman; Richard G Weleber
Discordant phenotypes in fraternal twins having an identical mutation in exon ORF15 of the RPGR gene.
Archives of ophthalmology 2008;126(3):379-84.
2008: Kecia L Feathers; Arkady L Lyubarsky; Naheed W Khan; Karen Teofilo; Anand Swaroop; David S Williams; Edward N Pugh; Debra A Thompson
Nrl-knockout mice deficient in Rpe65 fail to synthesize 11-cis retinal and cone outer segments.
Investigative ophthalmology & visual science 2008;49(3):1126-35.
2008: Shirley He; Sunil K Parapuram; Toby W Hurd; Babak Behnam; Benjamin L Margolis; Anand Swaroop; Babak Behnam
Retinitis Pigmentosa GTPase Regulator (RPGR) protein isoforms in mammalian retina: insights into X-linked Retinitis Pigmentosa and associated ciliopathies.
Vision research 2008;48(3):366-76.
2008: Alessandro Iannaccone; Mohammad I Othman; April D Cantrell; Barbara J Jennings; Kari E H Branham; Anand Swaroop
Retinal phenotype of an X-linked pseudo-Usher syndrome in association with the G173R mutation in the RPGR gene.
Advances in experimental medicine and biology 2008;613():221-7.
2007: Christina F Chakarova; Mary Papaioannou; Hemant Khanna; Irma Lopez; Naushin Waseem; Amna Shah; Torsten Theis; James Friedman; Cécilia Maubaret; Kinga Bujakowska; Brotati Veraitch; Mai M Abd El-Aziz; De Quincy Prescott; Sunil K Parapuram; Wendy A Bickmore; Peter M G Munro; Andreas Gal; Christian P Hamel; Valeria Marigo; Chris P Ponting; Bernd Wissinger; Eberhart Zrenner; Karl Matter; Anand Swaroop; Robert K Koenekoop; Shomi S Bhattacharya
Mutations in TOPORS cause autosomal dominant retinitis pigmentosa with perivascular retinal pigment epithelium atrophy.
American journal of human genetics 2007;81(5):1098-103.
2007: Artur Vahe Cideciyan; Tomas S Aleman; Samuel G Jacobson; Hemant Khanna; Alexander Sumaroka; Geoffrey K Aguirre; Sharon B Schwartz; Elizabeth A M Windsor; Shirley He; Bo Chang; Edwin M Stone; Anand Swaroop
Centrosomal-ciliary gene CEP290/NPHP6 mutations result in blindness with unexpected sparing of photoreceptors and visual brain: implications for therapy of Leber congenital amaurosis.
Human mutation 2007;28(11):1074-83.
2007: Anand Swaroop; Kari E H Branham; Wei Chen; Goncalo Abecasis
Genetic susceptibility to age-related macular degeneration: a paradigm for dissecting complex disease traits.
Human molecular genetics 2007;16 Spec No. 2():R174-82.
2007: Atsuhiro Kanda; Wei Chen; Mohammad I Othman; Kari E H Branham; Matthew Brooks; Ritu Khanna; Shirley He; Robert H Lyons Jr; Goncalo Abecasis; Anand Swaroop
A variant of mitochondrial protein LOC387715/ARMS2, not HTRA1, is strongly associated with age-related macular degeneration.
Proceedings of the National Academy of Sciences of the United States of America 2007;104(41):16227-32.
2007: Dyke P McEwen; Robert K Koenekoop; Hemant Khanna; Paul M Jenkins; Irma Lopez; Anand Swaroop; Jeffrey R Martens
Hypomorphic CEP290/NPHP6 mutations result in anosmia caused by the selective loss of G proteins in cilia of olfactory sensory neurons.
Proceedings of the National Academy of Sciences of the United States of America 2007;104(40):15917-22.
2007: Tomas S Aleman; Artur Vahe Cideciyan; Alexander Sumaroka; Sharon B Schwartz; Alejandro J Roman; Elizabeth A M Windsor; Janet D Steinberg; Kari E H Branham; Mohammad I Othman; Anand Swaroop; Samuel G Jacobson
Inner retinal abnormalities in X-linked retinitis pigmentosa with RPGR mutations.
Investigative ophthalmology & visual science 2007;48(10):4759-65.
2007: Edward H Trager; Ritu Khanna; Adrian Marrs; Lawrence Siden; Kari E H Branham; Anand Swaroop; Julia E Richards
Madeline 2.0 PDE: a new program for local and web-based pedigree drawing.
Bioinformatics (Oxford, England) 2007;23(14):1854-6.
2007: Jacque L Duncan; Yuhua Zhang; Jarel Gandhi; Chiaki Nakanishi; Mohammad I Othman; Kari E H Branham; Anand Swaroop; Austin Roorda
High-resolution imaging with adaptive optics in patients with inherited retinal degeneration.
Investigative ophthalmology & visual science 2007;48(7):3283-91.
2007: Atsuhiro Kanda; James S Friedman; Koji M Nishiguchi; Anand Swaroop
Retinopathy mutations in the bZIP protein NRL alter phosphorylation and transcriptional activity.
Human mutation 2007;28(6):589-98.
2007: Derek H Rosenzweig; K Saidas Nair; Junhua Wei; Qiang Wang; Gregory G Garwin; John C Saari; Ching-Kang Chen; Alan V Smrcka; Anand Swaroop; Janis Lem; James B Hurley; Vladlen Z Slepak
Subunit dissociation and diffusion determine the subcellular localization of rod and cone transducins.
The Journal of neuroscience : the official journal of the Society for Neuroscience 2007;27(20):5484-94.
2007: Mary A Raven; Edwin C T Oh; Anand Swaroop; Benjamin E Reese
Afferent control of horizontal cell morphology revealed by genetic respecification of rods and cones.
The Journal of neuroscience : the official journal of the Society for Neuroscience 2007;27(13):3540-7.
2007: Karine Merienne; James Friedman; Masayuki Akimoto; Gretta Abou-Sleymane; Chantal Weber; Anand Swaroop; Yvon Trottier
Preventing polyglutamine-induced activation of c-Jun delays neuronal dysfunction in a mouse model of SCA7 retinopathy.
Neurobiology of disease 2007;25(3):571-81.
2007: Edwin C T Oh; Naheed W Khan; Elena Novelli; Hemant Khanna; Enrica Strettoi; Anand Swaroop
Transformation of cone precursors to functional rod photoreceptors by bZIP transcription factor NRL.
Proceedings of the National Academy of Sciences of the United States of America 2007;104(5):1679-84.
2007: Takuya Suzuki; Masayuki Akimoto; Hiroo Imai; Yoshiki Ueda; Michiko Mandai; Nagahisa Yoshimura; Anand Swaroop; Masayo Takahashi
Chondroitinase ABC treatment enhances synaptogenesis between transplant and host neurons in model of retinal degeneration.
Cell transplantation 2007;16(5):493-503.
2007: Prabodha Swain; Sandeep Kumar; Dharmeshkumar Patel; Sushmita Richong; Pranav Oberoi; Madhumita Ghosh; Anand Swaroop
Mutations associated with retinopathies alter mitogen-activated protein kinase-induced phosphorylation of neural retina leucine-zipper.
Molecular vision 2007;13():1114-20.
2006: James S Friedman; Bo Chang; Chitra Kannabiran; Christina F Chakarova; Hardeep Pal Singh; Subhadra Jalali; Norman L Hawes; Kari E H Branham; Mohammad I Othman; Elena Filippova; Debra A Thompson; Andrew R Webster; Sten Andréasson; Samuel G Jacobson; Shomi S Bhattacharya; John R Heckenlively; Anand Swaroop
Premature truncation of a novel protein, RD3, exhibiting subnuclear localization is associated with retinal degeneration.
American journal of human genetics 2006;79(6):1059-70.
2006: Robert MacLaren; Rachael A Pearson; Angus MacNeil; R H Douglas; Thomas E Salt; M Akimoto; Anand Swaroop; Jane C Sowden; Robin R Ali
Retinal repair by transplantation of photoreceptor precursors.
Nature 2006;444(7116):203-7.
2006: Hemant Khanna; Masayuki Akimoto; Sandrine Siffroi-Fernandez; James S Friedman; David Hicks; Anand Swaroop
Retinoic acid regulates the expression of photoreceptor transcription factor NRL.
The Journal of biological chemistry 2006;281(37):27327-34.
2006: Mingyao Li; Pelin Atmaca Sonmez; Mohammad I Othman; Kari E H Branham; Ritu Khanna; Michael S Wade; Yun Li; Liming Liang; Sepideh Zareparsi; Anand Swaroop; Goncalo Abecasis
CFH haplotypes without the Y402H coding variant show strong association with susceptibility to age-related macular degeneration.
Nature genetics 2006;38(9):1049-54.
2006: Hong Cheng; Tomas S Aleman; Artur Vahe Cideciyan; Ritu Khanna; Samuel G Jacobson; Anand Swaroop
In vivo function of the orphan nuclear receptor NR2E3 in establishing photoreceptor identity during mammalian retinal development.
Human molecular genetics 2006;15(17):2588-602.
2006: John A Sayer; Edgar Otto; John F O'Toole; Gudrun Nurnberg; Michael A Kennedy; Christian Becker; Hans Christian Hennies; Juliana Helou; Massimo Attanasio; Blake V Fausett; Boris Utsch; Hemant Khanna; Yan Liu; Iain Drummond; Isao Kawakami; Takehiro Kusakabe; Motoyuki Tsuda; Li Ma; Hwankyu Lee; Ronald G Larson; Susan J Allen; Christopher J Wilkinson; Erich A Nigg; Chengchao Shou; Concepcion Lillo; David S Williams; Bernd Hoppe; Markus J Kemper; Thomas Neuhaus; Melissa A Parisi; Ian A Glass; Marianne Petry; Andreas Kispert; Joachim Gloy; Athina Ganner; Gerd Walz; Xueliang Zhu; Daniel Goldman; Peter Nurnberg; Anand Swaroop; Michel R Leroux; Friedhelm Hildebrandt
The centrosomal protein nephrocystin-6 is mutated in Joubert syndrome and activates transcription factor ATF4.
Nature genetics 2006;38(6):674-81.
2006: Bo Chang; Hemant Khanna; Norman L Hawes; David Jimeno; Shirley He; Concepcion Lillo; Sunil K Parapuram; Hong Cheng; Alison Scott; Ronald E Hurd; John A Sayer; Edgar Otto; Massimo Attanasio; John F O'Toole; Genglin Jin; Chengchao Shou; Friedhelm Hildebrandt; David S Williams; John R Heckenlively; Anand Swaroop
In-frame deletion in a novel centrosomal/ciliary protein CEP290/NPHP6 perturbs its interaction with RPGR and results in early-onset retinal degeneration in the rd16 mouse.
Human molecular genetics 2006;15(11):1847-57.
2006: David N Zacks; Ying Han; Yong Zeng; Anand Swaroop
Activation of signaling pathways and stress-response genes in an experimental model of retinal detachment.
Investigative ophthalmology & visual science 2006;47(4):1691-5.
2006: Masayuki Akimoto; Hong Cheng; Dongxiao Zhu; Joseph A Brzezinski; Ritu Khanna; Elena Filippova; Edwin C T Oh; Yuezhou Jing; Jose-Luis Linares; Matthew Brooks; Sepideh Zareparsi; Alan J Mears; Alfred O Hero; Thomas M Glaser; Anand Swaroop
Targeting of GFP to newborn rods by Nrl promoter and temporal expression profiling of flow-sorted photoreceptors.
Proceedings of the National Academy of Sciences of the United States of America 2006;103(10):3890-5.
2006: Shawn Ronan; Steven Nusinowitz; Anand Swaroop; John R Heckenlively
Senile panretinal cone dysfunction in age-related macular degeneration (AMD): a report of 52 amd patients compared to age-matched controls.
Transactions of the American Ophthalmological Society 2006;104():232-40.
2005: Andrew K Vine; Jacqueline Stader; Kari E H Branham; David C Musch; Anand Swaroop
Biomarkers of cardiovascular disease as risk factors for age-related macular degeneration.
Ophthalmology 2005;112(12):2076-80.
2005: Dongxiao Zhu; Alfred O Hero; Hong Cheng; Ritu Khanna; Anand Swaroop
Network constrained clustering for gene microarray data.
Bioinformatics (Oxford, England) 2005;21(21):4014-20.
2005: Hemant Khanna; Toby W Hurd; Concepcion Lillo; Xinhua Shu; Sunil K Parapuram; Shirley He; Masayuki Akimoto; Alan F Wright; Benjamin L Margolis; David S Williams; Anand Swaroop
RPGR-ORF15, which is mutated in retinitis pigmentosa, associates with SMC1, SMC3, and microtubule transport proteins.
The Journal of biological chemistry 2005;280(39):33580-7.
2005: Dongxiao Zhu; Alfred O Hero; Zhaohui S Qin; Anand Swaroop
High throughput screening of co-expressed gene pairs with controlled false discovery rate (FDR) and minimum acceptable strength (MAS).
Journal of computational biology : a journal of computational molecular cell biology 2005;12(7):1029-45.
2005: Sheila A Fisher; Goncalo Abecasis; Beverly M Yashar; Sepideh Zareparsi; Anand Swaroop; Sudha K Iyengar; Barbara E K Klein; Ronald Klein; Kristine E Lee; Jacek Majewski; Dennis W Schultz; Michael L Klein; Johanna M Seddon; Susan L Santangelo; Daniel E Weeks; Yvette P Conley; Tammy S Mah; Silke Schmidt; Jonathan L Haines; Margaret Pericak-Vance; Michael B Gorin; Heidi Schulz; Fabio Pardi; Cathryn M Lewis; Bernhard H F Weber
Meta-analysis of genome scans of age-related macular degeneration.
Human molecular genetics 2005;14(15):2257-64.
2005: Sepideh Zareparsi; Kari E H Branham; Mingyao Li; Sapna Shah; Robert J. Klein; Jurg Ott; Josephine Hoh; Goncalo Abecasis; Anand Swaroop
Strong association of the Y402H variant in complement factor H at 1q32 with susceptibility to age-related macular degeneration.
American journal of human genetics 2005;77(1):149-53.
2005: Lauren L Daniele; Concepcion Lillo; Arkady L Lyubarsky; Sergei S Nikonov; Nancy J Philp; Alan J Mears; Anand Swaroop; David S Williams; Edward N Pugh
Cone-like morphological, molecular, and electrophysiological features of the photoreceptors of the Nrl knockout mouse.
Investigative ophthalmology & visual science 2005;46(6):2156-67.
2005: Sepideh Zareparsi; Monika Buraczynska; Kari E H Branham; Sapna Shah; Donna Eng; Mingyao Li; Hemant Pawar; Beverly M Yashar; Sayoko E Moroi; Paul R Lichter; Howard R Petty; Julia E Richards; Goncalo Abecasis; Victor M Elner; Anand Swaroop
Toll-like receptor 4 variant D299G is associated with susceptibility to age-related macular degeneration.
Human molecular genetics 2005;14(11):1449-55.
2005: Xinhua Shu; Andrew M Fry; Brian Tulloch; Forbes D C Manson; J W Crabb; Hemant Khanna; Alison J Faragher; Alan Lennon; Shirley He; Philipp Trojan; Andreas Giessl; Uwe Wolfrum; Raf Vervoort; Anand Swaroop; Alan F Wright
RPGR ORF15 isoform co-localizes with RPGRIP1 at centrioles and basal bodies and interacts with nucleophosmin.
Human molecular genetics 2005;14(9):1183-97.
2005: Sergei S Nikonov; Lauren L Daniele; Xuemei Zhu; Cheryl M Craft; Anand Swaroop; Edward N Pugh
Photoreceptors of Nrl -/- mice coexpress functional S- and M-cone opsins having distinct inactivation mechanisms.
The Journal of general physiology 2005;125(3):287-304.
2005: Edgar Otto; Bart Loeys; Hemant Khanna; Jan Hellemans; Ralf Sudbrak; Shuling Fan; Ulla Muerb; John F O'Toole; Juliana Helou; Massimo Attanasio; Boris Utsch; John A Sayer; Concepcion Lillo; David Jimeno; Paul Coucke; Anne De Paepe; Richard Reinhardt; Sven Klages; Motoyuki Tsuda; Isao Kawakami; Takehiro Kusakabe; Heymut Omran; Anita Imm; Melissa Tippens; Pamela A Raymond; Josephine Hill; Phil Beales; Shirley He; Andreas Kispert; Benjamin L Margolis; David S Williams; Anand Swaroop; Friedhelm Hildebrandt
Nephrocystin-5, a ciliary IQ domain protein, is mutated in Senior-Loken syndrome and interacts with RPGR and calmodulin.
Nature genetics 2005;37(3):282-8.
2005: Todd A Carter; Jennifer A Greenhall; Shigeo Yoshida; Sebastian Fuchs; Robert Helton; Anand Swaroop; David J Lockhart; Carrolee Barlow
Mechanisms of aging in senescence-accelerated mice.
Genome biology 2005;6(6):R48.
2004: Koji M Nishiguchi; James S Friedman; Michael A Sandberg; Anand Swaroop; Eliot L Berson; Thaddeus P Dryja
Recessive NRL mutations in patients with clumped pigmentary retinal degeneration and relative preservation of blue cone function.
Proceedings of the National Academy of Sciences of the United States of America 2004;101(51):17819-24.
2004: James S Friedman; Hemant Khanna; Prabodh K Swain; Raphael Denicola; Hong Cheng; kenneth mitton; Christian H Weber; David Hicks; Anand Swaroop
The minimal transactivation domain of the basic motif-leucine zipper transcription factor NRL interacts with TATA-binding protein.
The Journal of biological chemistry 2004;279(45):47233-41.
2004: Alan F Wright; Adam C Reddick; Sharon B Schwartz; Julie S Ferguson; Tomas S Aleman; Ulrich Kellner; Bernhard Jurklies; Andreas Schuster; Eberhart Zrenner; Bernd Wissinger; Alan Lennon; Xinhua Shu; Artur Vahe Cideciyan; Edwin M Stone; Samuel G Jacobson; Anand Swaroop
Mutation analysis of NR2E3 and NRL genes in Enhanced S Cone Syndrome.
Human mutation 2004;24(5):439.
2004: Jindan YU; Shirley He; James S Friedman; Masayuki Akimoto; Debashis Ghosh; Alan J Mears; David Hicks; Anand Swaroop
Altered expression of genes of the Bmp/Smad and Wnt/calcium signaling pathways in the cone-only Nrl-/- mouse retina, revealed by gene profiling using custom cDNA microarrays.
The Journal of biological chemistry 2004;279(40):42211-20.
2004: Julie Lord-Grignon; Nicolas Tétreault; Alan J Mears; Anand Swaroop; Gilbert Bernier
Characterization of new transcripts enriched in the mouse retina and identification of candidate retinal disease genes.
Investigative ophthalmology & visual science 2004;45(9):3313-9.
2004: Samuel G Jacobson; Alexander Sumaroka; Tomas S Aleman; Artur Vahe Cideciyan; Sharon B Schwartz; Alejandro J Roman; Roderick R McInnes; Val C Sheffield; Edwin M Stone; Anand Swaroop; Alan F Wright
Nuclear receptor NR2E3 gene mutations distort human retinal laminar architecture and cause an unusual degeneration.
Human molecular genetics 2004;13(17):1893-902.
2004: Enrica Strettoi; Alan J Mears; Anand Swaroop
Recruitment of the rod pathway by cones in the absence of rods.
The Journal of neuroscience : the official journal of the Society for Neuroscience 2004;24(34):7576-82.
2004: Keely M Bumsted O'Brien; Hong Cheng; Yibin Jiang; Dorothea Schulte; Anand Swaroop; Anita E Hendrickson
Expression of photoreceptor-specific nuclear receptor NR2E3 in rod photoreceptors of fetal human retina.
Investigative ophthalmology & visual science 2004;45(8):2807-12.
2004: Sepideh Zareparsi; Alfred O Hero; Donald J Zack; Robert W Williams; Anand Swaroop
Seeing the unseen: Microarray-based gene expression profiling in vision.
Investigative ophthalmology & visual science 2004;45(8):2457-62.
2004: Hong Cheng; Hemant Khanna; Edwin C T Oh; David Hicks; kenneth mitton; Anand Swaroop
Photoreceptor-specific nuclear receptor NR2E3 functions as a transcriptional activator in rod photoreceptors.
Human molecular genetics 2004;13(15):1563-75.
2004: Shigeo Yoshida; Alan J Mears; James S Friedman; Todd Carter; Shirley He; Edwin Oh; Yuezhou Jing; Rafal Farjo; Gilles Fleury; Carrolee Barlow; Alfred O Hero; Anand Swaroop
Expression profiling of the developing and mature Nrl-/- mouse retina: identification of retinal disease candidates and transcriptional regulatory targets of Nrl.
Human molecular genetics 2004;13(14):1487-503.
2004: Qing-liang Wang; Shiming Chen; Noriko Esumi; Prabodh K Swain; Heidi S Haines; Guanghua Peng; B Michele Melia; Iain McIntosh; John R Heckenlively; Samuel G Jacobson; Edwin M Stone; Anand Swaroop; Donald J Zack
QRX, a novel homeobox gene, modulates photoreceptor gene expression.
Human molecular genetics 2004;13(10):1025-40.
2004: Loan Dang; Sadhona Pulukuri; Alan J Mears; Anand Swaroop; Benjamin E Reese; Ari Sitaramayya
Connexin 36 in photoreceptor cells: studies on transgenic rod-less and cone-less mouse retinas.
Molecular vision 2004;10():323-7.
2004: Steven J Pittler; Youwen Zhang; Shiming Chen; Alan J Mears; Donald J Zack; Zhiyong Ren; Prabodh K Swain; Suxia Yao; Anand Swaroop; J Brandon White
Functional analysis of the rod photoreceptor cGMP phosphodiesterase alpha-subunit gene promoter: Nrl and Crx are required for full transcriptional activity.
The Journal of biological chemistry 2004;279(19):19800-7.
2004: Sepideh Zareparsi; Adam C Reddick; Kari E H Branham; Kathryn B Moore; Laurie Jessup; Susan S Thoms; Michael Smith-Wheelock; Beverly M Yashar; Anand Swaroop
Association of apolipoprotein E alleles with susceptibility to age-related macular degeneration in a large cohort from a single center.
Investigative ophthalmology & visual science 2004;45(5):1306-10.
2004: Alessandro Iannaccone; Xiaofei Wang; Monica M Jablonski; Sharon F Kuo; Alfonso Baldi; Dominic Cosgrove; Cynthia C Morton; Anand Swaroop
Increasing evidence for syndromic phenotypes associated with RPGR mutations.
American journal of ophthalmology 2004;137(4):785-6; author reply 786.
2004: Goncalo Abecasis; Beverly M Yashar; Yu Zhao; Noor M Ghiasvand; Sepideh Zareparsi; Kari E H Branham; Adam C Reddick; Edward H Trager; Shigeo Yoshida; John Bahling; Elena Filippova; Susan G Elner; Mark W Johnson; Andrew K Vine; Paul Sieving; Samuel G Jacobson; Julia E Richards; Anand Swaroop
Age-related macular degeneration: a high-resolution genome scan for susceptibility loci in a population enriched for late-stage disease.
American journal of human genetics 2004;74(3):482-94.
2004: Jindan YU; Alan J Mears; Shigeo Yoshida; Rafal Farjo; Todd A Carter; Debashis Ghosh; Alfred O Hero; Carrolee Barlow; Anand Swaroop
From disease genes to cellular pathways: a progress report.
Novartis Foundation symposium 2004;255():147-60; discussion 160-4, 177-8.
2004: Masayuki Akimoto; Elena Filippova; Philip J Gage; Xuemei Zhu; Cheryl M Craft; Anand Swaroop
Transgenic mice expressing Cre-recombinase specifically in M- or S-cone photoreceptors.
Investigative ophthalmology & visual science 2004;45(1):42-7.
2003: Sten Andréasson; Debra K Breuer; Louise Eksandh; Vesna Ponjavic; Christina Frennesson; Suja Hiriyanna; Elena Filippova; Beverly M Yashar; Anand Swaroop
Clinical studies of X-linked retinitis pigmentosa in three Swedish families with newly identified mutations in the RP2 and RPGR-ORF15 genes.
Ophthalmic genetics 2003;24(4):215-23.
2003: Alessandro Iannaccone; Debra K Breuer; X F Wang; S F Kuo; E M Normando; Elena Filippova; Alfonso Baldi; Suja Hiriyanna; C B MacDonald; F Baldi; Dominic Cosgrove; C C Morton; Anand Swaroop; Monica M Jablonski
Clinical and immunohistochemical evidence for an X linked retinitis pigmentosa syndrome with recurrent infections and hearing loss in association with an RPGR mutation.
Journal of medical genetics 2003;40(11):e118.
2003: Caroline Hayward; Xinhua Shu; Artur Vahe Cideciyan; Alan Lennon; Perdita E Barran; Sepideh Zareparsi; Lindsay Sawyer; Grace Hendry; Baljean Dhillon; Ann H Milam; Philip J Luthert; Anand Swaroop; Nicholas D Hastie; Samuel G Jacobson; Alan F Wright
Mutation in a short-chain collagen gene, CTRP5, results in extracellular deposit formation in late-onset retinal degeneration: a genetic model for age-related macular degeneration.
Human molecular genetics 2003;12(20):2657-67.
2003: Jinghua Xi; Rafal Farjo; Shigeo Yoshida; Timothy S Kern; Anand Swaroop; Usha P Andley
A comprehensive analysis of the expression of crystallins in mouse retina.
Molecular vision 2003;9():410-9.
2003: Sharon B Schwartz; Tomas S Aleman; Artur Vahe Cideciyan; Anand Swaroop; Samuel G Jacobson; Edwin M Stone
De novo mutation in the RP1 gene (Arg677ter) associated with retinitis pigmentosa.
Investigative ophthalmology & visual science 2003;44(8):3593-7.
2003: Xuemei Zhu; Bruce Brown; Aimin Li; Alan J Mears; Anand Swaroop; Cheryl M Craft
GRK1-dependent phosphorylation of S and M opsins and their binding to cone arrestin during cone phototransduction in the mouse retina.
The Journal of neuroscience : the official journal of the Society for Neuroscience 2003;23(14):6152-60.
2003: kenneth mitton; Prabodh K Swain; Hemant Khanna; Mary Dowd; Ingrid J Apel; Anand Swaroop
Interaction of retinal bZIP transcription factor NRL with Flt3-interacting zinc-finger protein Fiz1: possible role of Fiz1 as a transcriptional repressor.
Human molecular genetics 2003;12(4):365-73.
2003: Ceren Acar; Alan J Mears; Beverly M Yashar; Anjali S Maheshwary; sten andreasson; Alfonso Baldi; Paul Sieving; Alessandro Iannaccone; Maria A Musarella; Samuel G Jacobson; Anand Swaroop
Mutation screening of patients with Leber Congenital Amaurosis or the enhanced S-Cone Syndrome reveals a lack of sequence variations in the NRL gene.
Molecular vision 2003;9():14-7.
2003: Jindan YU; Rafal Farjo; Sean P MacNee; Wolfgang Baehr; Dwight E Stambolian; Anand Swaroop
Annotation and analysis of 10,000 expressed sequence tags from developing mouse eye and adult retina.
Genome biology 2003;4(10):R65.
2002: Santhi D Konduri; Niranjan Yanamandra; Khawar Siddique; Arun Joseph; Dzung Hong Dinh; Charles William Olivero; Meena Gujrati; Gregory Kouraklis; Anand Swaroop; Athanassios P Kyritsis; Jasti Sambasiva Rao
Modulation of cystatin C expression impairs the invasive and tumorigenic potential of human glioblastoma cells.
Oncogene 2002;21(57):8705-12.
2002: Xuejiao Wang; Siqun Xu; Carlo Rivolta; Lili Y Li; Guang-Hua Peng; Prabodh K Swain; Ching-Hwa Sung; Anand Swaroop; Eliot L Berson; Thaddeus P Dryja; Shiming Chen
Barrier to autointegration factor interacts with the cone-rod homeobox and represses its transactivation function.
The Journal of biological chemistry 2002;277(45):43288-300.
2002: Gustavo D Aguirre; Beverly M Yashar; Sinoj K John; Julie E Smith; Debra K Breuer; Suja Hiriyanna; Anand Swaroop; Ann H Milam
Retinal histopathology of an XLRP carrier with a mutation in the RPGR exon ORF15.
Experimental eye research 2002;75(4):431-43.
2002: Shigeo Yoshida; Beverly M Yashar; Suja Hiriyanna; Anand Swaroop
Microarray analysis of gene expression in the aging human retina.
Investigative ophthalmology & visual science 2002;43(8):2554-60.
2002: Anand Swaroop; Donald J Zack
Transcriptome analysis of the retina.
Genome biology 2002;3(8):REVIEWS1022.
2002: Debra K Breuer; Beverly M Yashar; Elena Filippova; Suja Hiriyanna; Robert H Lyons Jr; Alan J Mears; Bersabell Asaye; Ceren Acar; Raf Vervoort; Alan F Wright; Maria A Musarella; Patricia Wheeler; Ian MacDonald; Alessandro Iannaccone; David Birch; Dennis R Hoffman; Gerald A Fishman; John R Heckenlively; Samuel G Jacobson; Paul Sieving; Anand Swaroop
A comprehensive mutation analysis of RP2 and RPGR in a North American cohort of families with X-linked retinitis pigmentosa.
American journal of human genetics 2002;70(6):1545-54.
2002: Jindan YU; Mohammad I Othman; Rafal Farjo; Sepideh Zareparsi; Sean P MacNee; Shigeo Yoshida; Anand Swaroop
Evaluation and optimization of procedures for target labeling and hybridization of cDNA microarrays.
Molecular vision 2002;8():130-7.
2002: Monika Buraczynska; Alan J Mears; Sepideh Zareparsi; Rafal Farjo; Elena Filippova; Yukun Yuan; Sean P MacNee; Bret A Hughes; Anand Swaroop
Gene expression profile of native human retinal pigment epithelium.
Investigative ophthalmology & visual science 2002;43(3):603-7.
2002: Rafal Farjo; Jindan YU; Mohammad I Othman; Shigeo Yoshida; Sujata Sheth; Thomas M Glaser; Wolfgang Baehr; Anand Swaroop
Mouse eye gene microarrays for investigating ocular development and disease.
Vision research 2002;42(4):463-70.
2001: Radha Ayyagari; Kang Zhang; Amy Hutchinson; Z Yu; Anand Swaroop; Laura E Kakuk; J M Seddon; Paul S Bernstein; R A Lewis; Jaana Tammur; Zhenglin Yang; Yingying Li; H Zhang; Beverly M Yashar; Jiafan Liu; Konstantin Petrukhin; Paul Sieving; Rando Allikmets
Evaluation of the ELOVL4 gene in patients with age-related macular degeneration.
Ophthalmic genetics 2001;22(4):233-9.
2001: Alan J Mears; Mineo Kondo; Prabodh K Swain; Y Takada; Ronald A Bush; Thomas L Saunders; Paul Sieving; Anand Swaroop
Nrl is required for rod photoreceptor development.
Nature genetics 2001;29(4):447-52.
2001: Prabodh K Swain; David Hicks; Alan J Mears; Ingrid J Apel; Julie E Smith; Sinoj K John; Anita Hendrickson; Ann H Milam; Anand Swaroop
Multiple phosphorylated isoforms of NRL are expressed in rod photoreceptors.
The Journal of biological chemistry 2001;276(39):36824-30.
2001: Maria-Luisa Guevara-Fujita; S Fahrner; Kinga Buraczynska; J Cook; D Wheaton; F Cortes; C Vicencio; M Pena; Gerald A Fishman; HA Mintz-Hittner; David Birch; D Hoffman; Alan J Mears; Ricardo Fujita; Anand Swaroop
Five novel RPGR mutations in families with X-linked retinitis pigmentosa.
Human mutation 2001;17(2):151.
2000: David A R Bessant; Annette M Payne; C Plant; Alan C Bird; Anand Swaroop; Shomi S Bhattacharya
NRL S50T mutation and the importance of 'founder effects' in inherited retinal dystrophies.
European journal of human genetics : EJHG 2000;8(10):783-7.
2000: Alan J Mears; Suja Hiriyanna; Raf Vervoort; Beverly M Yashar; L Gieser; S Fahrner; Stephen P Daiger; John R Heckenlively; Paul Sieving; Alan F Wright; Anand Swaroop
Remapping of the RP15 locus for X-linked cone-rod degeneration to Xp11.4-p21.1, and identification of a de novo insertion in the RPGR exon ORF15.
American journal of human genetics 2000;67(4):1000-3.
2000: kenneth mitton; Prabodh K Swain; Shiming Chen; Siqun Xu; Donald J Zack; Anand Swaroop
The leucine zipper of NRL interacts with the CRX homeodomain. A possible mechanism of transcriptional synergy in rhodopsin regulation.
The Journal of biological chemistry 2000;275(38):29794-9.
2000: Bret A Hughes; G Kumar; Yukun Yuan; Anuradha Swaminathan; Denise Yan; A Sharma; L Plumley; T L Yang-Feng; Anand Swaroop
Cloning and functional expression of human retinal kir2.4, a pH-sensitive inwardly rectifying K(+) channel.
American journal of physiology. Cell physiology 2000;279(3):C771-84.
2000: S Sinha; A Sharma; N Agarwal; Anand Swaroop; TL Yang-Feng
Expression profile and chromosomal location of cDNA clones, identified from an enriched adult retina library.
Investigative ophthalmology & visual science 2000;41(1):24-8.
1999: Donald J Zack; M Dean; Robert S Molday; Jeremy Nathans; T M Redmond; E M Stone; Anand Swaroop; David Valle; B H Weber
What can we learn about age-related macular degeneration from other retinal diseases?
Molecular vision 1999;5():30.
1999: David A R Bessant; Annette M Payne; kenneth mitton; Q L Wang; Prabodh K Swain; C Plant; Alan C Bird; Donald J Zack; Anand Swaroop; Shomi S Bhattacharya
A mutation in NRL is associated with autosomal dominant retinitis pigmentosa.
Nature genetics 1999;21(4):355-6.
1999: Alan J Mears; L Gieser; Denise Yan; C Chen; S Fahrner; Suja Hiriyanna; Ricardo Fujita; Samuel G Jacobson; Paul Sieving; Anand Swaroop
Protein-truncation mutations in the RP2 gene in a North American cohort of families with X-linked retinitis pigmentosa.
American journal of human genetics 1999;64(3):897-900.
1999: Anand Swaroop; Q L Wang; W Wu; J Cook; CL Coats; Siqun Xu; Shiming Chen; Donald J Zack; Paul Sieving
Leber congenital amaurosis caused by a homozygous mutation (R90W) in the homeodomain of the retinal transcription factor CRX: direct evidence for the involvement of CRX in the development of photoreceptor function.
Human molecular genetics 1999;8(2):299-305.
1998: Lihua He; M L Campbell; D Srivastava; YS Blocker; J R Harris; Anand Swaroop; Donald A Fox
Spatial and temporal expression of AP-1 responsive rod photoreceptor genes and bZIP transcription factors during development of the rat retina.
Molecular vision 1998;4():32.
1998: Vesna Ponjavic; Sten Andréasson; Magnus Abrahamson; Berndt Ehinger; L Gieser; Ricardo Fujita; Anand Swaroop
Clinical expression of X-linked retinitis pigmentosa in a Swedish family with the RP2 genotype.
Ophthalmic genetics 1998;19(4):187-96.
1998: Gerald A Fishman; Sandeep Grover; Samuel G Jacobson; Kenneth R Alexander; Deborah J Derlacki; W Wu; Monika Buraczynska; Anand Swaroop
X-linked retinitis pigmentosa in two families with a missense mutation in the RPGR gene and putative change of glycine to valine at codon 60.
Ophthalmology 1998;105(12):2286-96.
1998: S Bauer; Ricardo Fujita; Monika Buraczynska; Magnus Abrahamson; Berndt Ehinger; W Wu; T J Falls; Sten Andréasson; Anand Swaroop
Phenotype of an X-linked retinitis pigmentosa family with a novel splice defect in the RPGR gene.
Investigative ophthalmology & visual science 1998;39(12):2470-4.
1998: L Gieser; Ricardo Fujita; Harald HH Goring; Jurg Ott; Dennis R Hoffman; Artur Vahe Cideciyan; David G Birch; Samuel G Jacobson; Anand Swaroop
A novel locus (RP24) for X-linked retinitis pigmentosa maps to Xq26-27.
American journal of human genetics 1998;63(5):1439-47.
1998: Denise Yan; Prabodh K Swain; Debra K Breuer; R M Tucker; W Wu; Ricardo Fujita; Alnawaz Rehemtulla; David T Burke; Anand Swaroop
Biochemical characterization and subcellular localization of the mouse retinitis pigmentosa GTPase regulator (mRpgr).
The Journal of biological chemistry 1998;273(31):19656-63.
1998: James D Eudy; Michael D Weston; S Yao; Denise M Hoover; Heidi L Rehm; M Ma-Edmonds; Denise Yan; Iqbal Ahmad; J J Cheng; C Ayuso; Cor W R J Cremers; S Davenport; CG Moller; Catherine B Talmadge; Kirk W Beisel; M Tamayo; Cynthia C Morton; Anand Swaroop; William J Kimberling; Janos Sumegi
Mutation of a gene encoding a protein with extracellular matrix motifs in Usher syndrome type IIa.
Science (New York, N.Y.) 1998;280(5370):1753-7.
1998: R Sharon-Friling; J Richardson; S Sperbeck; D Lee; M Rauchman; R Maas; Anand Swaroop; Graeme Wistow
Lens-specific gene recruitment of zeta-crystallin through Pax6, Nrl-Maf, and brain suppressor sites.
Molecular and cellular biology 1998;18(4):2067-76.
1998: Gerald A Fishman; Sandeep Grover; Monika Buraczynska; W Wu; Anand Swaroop
A new 2-base pair deletion in the RPGR gene in a black family with X-linked retinitis pigmentosa.
Archives of ophthalmology 1998;116(2):213-8.
1997: Prabodh K Swain; Shiming Chen; Q L Wang; Louisa M Affatigato; CL Coats; K D Brady; Gerald A Fishman; Samuel G Jacobson; Anand Swaroop; E Stone; Paul Sieving; Donald J Zack
Mutations in the cone-rod homeobox gene are associated with the cone-rod dystrophy photoreceptor degeneration.
Neuron 1997;19(6):1329-36.
1997: Monika Buraczynska; W Wu; Ricardo Fujita; Kinga Buraczynska; E Phelps; Sten Andréasson; J Bennett; David G Birch; Gerald A Fishman; Dennis R Hoffman; George Inana; Samuel G Jacobson; Maria A Musarella; Paul Sieving; Anand Swaroop
Spectrum of mutations in the RPGR gene that are identified in 20% of families with X-linked retinitis pigmentosa.
American journal of human genetics 1997;61(6):1287-92.
1997: Qais A Farjo; A Jackson; S Pieke-Dahl; K Scott; William J Kimberling; Paul Sieving; Julia E Richards; Anand Swaroop
Human bZIP transcription factor gene NRL: structure, genomic sequence, and fine linkage mapping at 14q11.2 and negative mutation analysis in patients with retinal degeneration.
Genomics 1997;45(2):395-401.
1997: Samuel G Jacobson; M Buraczynska; Ann H Milam; C Chen; M Järvaläinen; R Fujita; W Wu; Y Huang; Artur Vahe Cideciyan; Anand Swaroop
Disease expression in X-linked retinitis pigmentosa caused by a putative null mutation in the RPGR gene.
Investigative ophthalmology & visual science 1997;38(10):1983-97.
1997: Ricardo Fujita; Monika Buraczynska; L Gieser; W Wu; P Forsythe; Magnus Abrahamson; Samuel G Jacobson; Paul Sieving; Sten Andréasson; Anand Swaroop
Analysis of the RPGR gene in 11 pedigrees with the retinitis pigmentosa type 3 genotype: paucity of mutations in the coding region but splice defects in two families.
American journal of human genetics 1997;61(3):571-80.
1997: Sten Andréasson; Vesna Ponjavic; Magnus Abrahamson; Berndt Ehinger; W Wu; Ricardo Fujita; Monika Buraczynska; Anand Swaroop
Phenotypes in three Swedish families with X-linked retinitis pigmentosa caused by different mutations in the RPGR gene.
American journal of ophthalmology 1997;124(1):95-102.
1997: Anand Swaroop
cDNA library.
Investigative ophthalmology & visual science 1997;38(6):1053.
1997: P Forsythe; A Maguire; Ricardo Fujita; C Moen; Anand Swaroop; J Bennett
A carboxy-terminal truncation of 99 amino acids resulting from a novel mutation (Arg555-->stop) in the CHM gene leads to choroideremia.
Experimental eye research 1997;64(3):487-90.
1996: R Kumar; S Chen; D Scheurer; Q L Wang; Elia J Duh; C H Sung; Alnawaz Rehemtulla; Anand Swaroop; Ruben Adler; Donald J Zack
The bZIP transcription factor Nrl stimulates rhodopsin promoter activity in primary retinal cell cultures.
The Journal of biological chemistry 1996;271(47):29612-8.
1996: Ricardo Fujita; E Bingham; P Forsythe; C McHenry; V Aita; B A Navia; K Dry; M Segal; M Devoto; G Bruns; Alan F Wright; J Ott; Paul Sieving; Anand Swaroop
A recombination outside the BB deletion refines the location of the X linked retinitis pigmentosa locus RP3.
American journal of human genetics 1996;59(1):152-8.
1996: Ricardo Fujita; Anand Swaroop
RPGR: part one of the X-linked retinitis pigmentosa story.
Molecular vision 1996;2():4.
1996: X Lin; Anand Swaroop; Flora M Vaccarino; M T Murtha; Melanie Haas Kucherlapati; X Ji; Frank H Ruddle; James F Leckman
Characterization and sequence analysis of the human homeobox-containing gene GBX2.
Genomics 1996;31(3):335-42.
1996: Alnawaz Rehemtulla; R Warwar; R Kumar; X Ji; Donald J Zack; Anand Swaroop
The basic motif-leucine zipper transcription factor Nrl can positively regulate rhodopsin gene expression.
Proceedings of the National Academy of Sciences of the United States of America 1996;93(1):191-5.
1996: Q Liu; X Ji; M L Breitman; Peter F Hitchcock; Anand Swaroop
Expression of the bZIP transcription factor gene Nrl in the developing nervous system.
Oncogene 1996;12(1):207-11.
1995: Ricardo Fujita; M Blumberg; Douglas R Anderson; P Forsythe; C McHenry; Denise Yan; TL Yang-Feng; Paul Sieving; Anand Swaroop
A polymorphic trinucleotide repeat at DXS8170 in the critical region of X-linked retinitis pigmentosa locus RP3 at Xp21.1.
Molecular vision 1995;1():3.
1995: Ricardo Fujita; Anand Swaroop
Alu-vector PCR with biotinylated primers to isolate YAC ends ready for sequencing.
BioTechniques 1995;18(5):796-800.
1995: Ricardo Fujita; C Skolnick; A J Pakstis; TL Yang-Feng; Anand Swaroop
Dinucleotide polymorphism at the DXS1178 locus is tightly linked to PGK1 at Xq13.
Human genetics 1995;95(4):467-8.
1995: D A Shaywitz; L Orci; M Ravazzola; Anand Swaroop; Chris A Kaiser
Human SEC13Rp functions in yeast and is located on transport vesicles budding from the endoplasmic reticulum.
The Journal of cell biology 1995;128(5):769-77.
1995: N Agarwal; Anand Swaroop; K Zheng; J D Liou; K O'Rourke; K A Graves; L Gieser; Monte A Delmonte; TL Yang-Feng
Expression and chromosomal localization of cDNA clones from an enriched human retinal pigment epithelial (RPE) cell line library: identification of two RPE-specific genes.
Cytogenetics and cell genetics 1995;69(1-2):71-4.
1994: Anand Swaroop; TL Yang-Feng; W Liu; L Gieser; L L Barrow; K C Chen; N Agarwal; Miriam H Meisler; David I Smith
Molecular characterization of a novel human gene, SEC13R, related to the yeast secretory pathway gene SEC13, and mapping to a conserved linkage group on human chromosome 3p24-p25 and mouse chromosome 6.
Human molecular genetics 1994;3(8):1281-6.
1994: Denise Yan; D Wong; K Zheng; D Thiselton; R Fujita; Paul Sieving; S S Bhattacharya; TL Yang-Feng; Julia E Richards; Anand Swaroop
Dinucleotide repeat polymorphism at the DXS977 locus.
Human molecular genetics 1994;3(6):1030.
1994: J Tombran-Tink; H Pawar; Anand Swaroop; Ignacio R Rodriguez; Gerald J Chader
Localization of the gene for pigment epithelium-derived factor (PEDF) to chromosome 17p13.1 and expression in cultured human retinoblastoma cells.
Genomics 1994;19(2):266-72.
1994: N Hernando; P Martin-Vasallo; Sankar Ghosh; P K Ghosh; Anand Swaroop; Miguel Coca-Prados
Nucleotide sequence of a cDNA for the beta 2 subunit isoform of Na+,K(+)-ATPase from human retina.
Biochimica et biophysica acta 1994;1189(1):109-11.
1993: Q Farjo; A U Jackson; Jianfeng Xu; M Gryzenia; C Skolnick; N Agarwal; Anand Swaroop
Molecular characterization of the murine neural retina leucine zipper gene, Nrl.
Genomics 1993;18(2):216-22.
1993: Anand Swaroop; S Ganguly; S N Sarkar; H A Vasavada
lambda SHK and lambda AASV: phage vectors for efficient cDNA cloning and expression in mammalian cells.
Gene 1993;123(2):287-8.
1993: Anand Swaroop; J Xu
cDNA libraries from human tissues and cell lines.
Cytogenetics and cell genetics 1993;64(3-4):292-4.
1993: Irina N Bespalova; Q Farjo; Douglas P Mortlock; A U Jackson; Miriam H Meisler; Anand Swaroop; Margit Burmeister
Mapping of the neural retina leucine zipper gene, Nrl, to mouse chromosome 14.
Mammalian genome : official journal of the International Mammalian Genome Society 1993;4(10):618-20.
1992: TL Yang-Feng; Anand Swaroop
Neural retina-specific leucine zipper gene NRL (D14S46E) maps to human chromosome 14q11.1-q11.2.
Genomics 1992;14(2):491-2.
1992: L Gieser; Anand Swaroop
Expressed sequence tags and chromosomal localization of cDNA clones from a subtracted retinal pigment epithelium library.
Genomics 1992;13(3):873-6.
1992: Anand Swaroop; J Z Xu; H Pawar; A Jackson; C Skolnick; N Agarwal
A conserved retina-specific gene encodes a basic motif/leucine zipper domain.
Proceedings of the National Academy of Sciences of the United States of America 1992;89(1):266-70.
1991: Anand Swaroop; N Agarwal; J R Gruen; D Bick; S M Weissman
Differential expression of novel Gs alpha signal transduction protein cDNA species.
Nucleic acids research 1991;19(17):4725-9.
1991: N Agarwal; C L Hsieh; D Sills; M Swaroop; B Desai; U Francke; Anand Swaroop
Sequence analysis, expression and chromosomal localization of a gene, isolated from a subtracted human retina cDNA library, that encodes an insulin-like growth factor binding protein (IGFBP2).
Experimental eye research 1991;52(5):549-61.
1991: Anand Swaroop; J Z Xu; N Agarwal; S M Weissman
A simple and efficient cDNA library subtraction procedure: isolation of human retina-specific cDNA clones.
Nucleic acids research 1991;19(8):1954.
1990: Uta Francke; H D Ochs; B T Darras; Anand Swaroop
Origin of mutations in two families with X-linked chronic granulomatous disease.
Blood 1990;76(3):602-6.
1990: C L Hsieh; Anand Swaroop; Uta Francke
Chromosomal localization and cDNA sequence of human ralB, a GTP binding protein.
Somatic cell and molecular genetics 1990;16(4):407-10.
1990: H A Vasavada; S Ganguly; M Chorney; R Mathur; H Shukla; Anand Swaroop; S M Weissman
pSH4: a mammalian cDNA expression vector.
Nucleic acids research 1990;18(12):3668.
1990: H Shukla; Anand Swaroop; R Srivastava; S M Weissman
The mRNA of a human class I gene HLA G/HLA 6.0 exhibits a restricted pattern of expression.
Nucleic acids research 1990;18(8):2189.
1988: Anand Swaroop; S M Weissman
Charon BS(+) and (-), versatile lambda phage vectors for constructing directional cDNA libraries and their efficient transfer to plasmids.
Nucleic acids research 1988;16(17):8739.
1988: Anand Swaroop; B L Hogan; U Francke
Molecular analysis of the cDNA for human SPARC/osteonectin/BM-40: sequence, expression, and localization of the gene to chromosome 5q31-q33.
Genomics 1988;2(1):37-47.
1987: Anand Swaroop; M Swaroop; Alan Garen
Sequence analysis of the complete cDNA and encoded polypeptide for the Glued gene of Drosophila melanogaster.
Proceedings of the National Academy of Sciences of the United States of America 1987;84(18):6501-5.
1986: Anand Swaroop; J W Sun; M L Paco-Larson; Alan Garen
Molecular organization and expression of the genetic locus glued in Drosophila melanogaster.
Molecular and cellular biology 1986;6(3):833-41.
1985: Anand Swaroop; M L Paco-Larson; Alan Garen
Molecular genetics of a transposon-induced dominant mutation in the Drosophila locus Glued.
Proceedings of the National Academy of Sciences of the United States of America 1985;82(6):1751-5.