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Hemant Khanna

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TOP 3
Hemant Khanna; Wolfgang Baehr
Retina ciliopathies: from genes to mechanisms and treatment.
Ozge Yildiz; Hemant Khanna
Ciliary signaling cascades in photoreceptors.
Manisha Anand; Hemant Khanna
Ciliary transition zone (TZ) proteins RPGR and CEP290: role in photoreceptor cilia and degenerative diseases.

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All Publications

2012: Hemant Khanna; Wolfgang Baehr
Retina ciliopathies: from genes to mechanisms and treatment.
Vision research 2012;75():1.
2012: Ozge Yildiz; Hemant Khanna
Ciliary signaling cascades in photoreceptors.
Vision research 2012;75():112-6.
2012: Manisha Anand; Hemant Khanna
Ciliary transition zone (TZ) proteins RPGR and CEP290: role in photoreceptor cilia and degenerative diseases.
Expert opinion on therapeutic targets 2012;16(6):541-51.
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.
2011: Zong-Mei Bian; Susan G Elner; Hemant Khanna; Carlos A Murga-Zamalloa; Suresh Patil; Victor M Elner
Expression and functional roles of caspase-5 in inflammatory responses of human retinal pigment epithelial cells.
Investigative ophthalmology & visual science 2011;52(12):8646-56.
2011: Carlos A Murga-Zamalloa; Suresh B Patil; Johan Peränen; Rivka A Rachel; Nathan A Reed; Lan Sze Chan; Supriya Davuluri; Amiya K Ghosh; Toby W Hurd; Hemant Khanna
Accumulation of the Raf-1 kinase inhibitory protein (Rkip) is associated with Cep290-mediated photoreceptor degeneration in ciliopathies.
The Journal of biological chemistry 2011;286(32):28276-86.
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: Suresh B Patil; Carlos A Murga-Zamalloa; Amiya K Ghosh; Toby W Hurd; Hemant Khanna
Functional analysis of retinitis pigmentosa 2 (RP2) protein reveals variable pathogenic potential of disease-associated missense variants.
PloS one 2011;6(6):e21379.
2010: Suresh B Patil; Rakesh Verma; Madhusudan Venkatareddy; Hemant Khanna
Expression and localization of the ciliary disease protein retinitis pigmentosa GTPase regulator in mammalian kidney.
Kidney international 2010;78(6):622-3.
2010: John F O'Toole; Yangjian Liu; Erica E Davis; Christopher J Westlake; Massimo Attanasio; Edgar Otto; Dominik Seelow; Gudrun Nurnberg; Christian Becker; Matti Nuutinen; Mikko Kärppä; Jaakko Ignatius; Johanna Uusimaa; Salla Pakanen; Elisa Jaakkola; Lambertus P van den Heuvel; Henry Fehrenbach; Roger C Wiggins; Meera Goyal; Weibin Zhou; Matthias T F Wolf; Eric Wise; Juliana Helou; Susan J Allen; Carlos A Murga-Zamalloa; Shazia Ashraf; Moumita Chaki; Saskia Heeringa; Gil Chernin; Bethan E Hoskins; Hassan Chaib; Joseph G Gleeson; Takehiro Kusakabe; Takako Suzuki; R Elwyn Isaac; Lynne M Quarmby; Bryan Tennant; Hisashi Fujioka; Hannu Tuominen; Ilmo Hassinen; Hellevi Lohi; Judith L van Houten; Agnes Rotig; John A Sayer; Boris Rolinski; Peter Freisinger; Sethu M Madhavan; Martina Herzer; Florence Madignier; Holger Prokisch; Peter Nurnberg; Peter K Jackson; Peter Jackson; Hemant Khanna; Nicholas Katsanis; Friedhelm Hildebrandt
Individuals with mutations in XPNPEP3, which encodes a mitochondrial protein, develop a nephronophthisis-like nephropathy.
The Journal of clinical investigation 2010;120(3):791-802.
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.
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.
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.
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: 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: 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.
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: 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.
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: 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: 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.
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: 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.
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.
2001: Yogendra Singh; Hemant Khanna; Arun P Chopra; Varsha Mehra
A dominant negative mutant of Bacillus anthracis protective antigen inhibits anthrax toxin action in vivo.
The Journal of biological chemistry 2001;276(25):22090-4.
2001: Hemant Khanna; P K Gupta; A Singh; R Chandra; Yogendra Singh
Participation of residue F552 in domain III of the protective antigen in the biological activity of anthrax lethal toxin.
Biological chemistry 2001;382(6):941-6.
2001: Hemant Khanna; Arun P Chopra; Naveen Arora; A Chaudhry; Yogendra Singh
Role of residues constituting the 2beta1 strand of domain II in the biological activity of anthrax protective antigen.
FEMS microbiology letters 2001;199(1):27-31.
2001: Varsha Mehra; Hemant Khanna; R Chandra; Yogendra Singh
Anthrax-toxin-mediated delivery of a 19 kDa antigen of Mycobacterium tuberculosis into the cytosol of mammalian cells.
Biotechnology and applied biochemistry 2001;33(Pt 2):71-4.
2000: M Sharma; Hemant Khanna; Naveen Arora; Yogendra Singh
Anthrax toxin-mediated delivery of cholera toxin-A subunit into the cytosol of mammalian cells.
Biotechnology and applied biochemistry 2000;32 ( Pt 1)():69-72.
1998: T Xu; Hemant Khanna; James K Coward
The design, synthesis, and initial evaluation of benzophenone-containing peptides as potential photoaffinity labels of oligosaccharyltransferase.
Bioorganic & medicinal chemistry 1998;6(10):1821-34.