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Elena Semina

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Linda M Reis; Kala F Schilter; Ulrich Broeckel; Alex V Levin; R Brian Lowry; Jeffrey C Murray; Eliza Stroh; Rebecca C Tyler; Bethany A Volkmann Kloss; Petra J G Zwijnenburg; Elena V Semina
PITX2 and FOXC1 spectrum of mutations in ocular syndromes.
Bethany A Volkmann Kloss; Linda M Reis; Dominique Brémond-Gignac; Thomas M Glaser; Elena V Semina
Analysis of FOXD3 sequence variation in human ocular disease.
Yi Liu; Elena V Semina
pitx2 Deficiency results in abnormal ocular and craniofacial development in zebrafish.

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All Publications

2012: Linda M Reis; Kala F Schilter; Ulrich Broeckel; Alex V Levin; R Brian Lowry; Jeffrey C Murray; Eliza Stroh; Rebecca C Tyler; Bethany A Volkmann Kloss; Petra J G Zwijnenburg; Elena V Semina
PITX2 and FOXC1 spectrum of mutations in ocular syndromes.
European journal of human genetics : EJHG 2012;20(12):1224-33.
2012: Bethany A Volkmann Kloss; Linda M Reis; Dominique Brémond-Gignac; Thomas M Glaser; Elena V Semina
Analysis of FOXD3 sequence variation in human ocular disease.
Molecular vision 2012;18():1740-9.
2012: Yi Liu; Elena V Semina
pitx2 Deficiency results in abnormal ocular and craniofacial development in zebrafish.
PloS one 2012;7(1):e30896.
2011: Linda M Reis; Kala F Schilter; Adele S Schneider; Omar Abdul-Rahman; Tanya M Bardakjian; Ulrich Broeckel; Jeffrey W Innis; Beth A Kozel; Edward J Lose; Donna M Martin; Rebecca C Tyler; Elena V Semina
BMP4 loss-of-function mutations in developmental eye disorders including SHORT syndrome.
Human genetics 2011;130(4):495-504.
2011: Linda M Reis; Elena V Semina
Genetics of anterior segment dysgenesis disorders.
Current opinion in ophthalmology 2011;22(5):314-24.
2011: Bethany A Volkmann; Natalya S Zinkevich; Aki Mustonen; Kala F Schilter; Dmitry V Bosenko; Linda M Reis; Ulrich Broeckel; Brian A Link; Elena V Semina
Potential novel mechanism for Axenfeld-Rieger syndrome: deletion of a distant region containing regulatory elements of PITX2.
Investigative ophthalmology & visual science 2011;52(3):1450-9.
2011: K F Schilter; A Schneider; T Bardakjian; J-F Soucy; R C Tyler; L M Reis; Elena V Semina
OTX2 microphthalmia syndrome: four novel mutations and delineation of a phenotype.
Clinical genetics 2011;79(2):158-68.
2011: Linda M Reis; Farhad Ebadi; Ariana Kariminejad; Ayesha Khan; Rebecca C Tyler; Elena V Semina
VSX2 mutations in autosomal recessive microphthalmia.
Molecular vision 2011;17():2527-32.
2011: Elena A Sorokina; Nevin Mlodik; Sanaa Muheisen; Elena V Semina
MIP/Aquaporin 0 represents a direct transcriptional target of PITX3 in the developing lens.
PloS one 2011;6(6):e21122.
2010: Linda M Reis; Rebecca C Tyler; Adele Schneider; Tanya Bardakjian; Joan M Stoler; Serge B Melancon; Elena V Semina
FOXE3 plays a significant role in autosomal recessive microphthalmia.
American journal of medical genetics. Part A 2010;152A(3):582-90.
2010: Linda M Reis; Rebecca C Tyler; Adele Schneider; Tanya Bardakjian; Elena V Semina
Examination of SOX2 in variable ocular conditions identifies a recurrent deletion in microphthalmia and lack of mutations in other phenotypes.
Molecular vision 2010;16():768-73.
2008: Linda M Reis; Rebecca C Tyler; Omar Abdul-Rahman; Pamela Trapane; Robert Wallerstein; Diane Broome; Jodi Hoffman; Aneal Khan; Christina Paradiso; Nitin Ron; Amanda Bergner; Elena V Semina
Mutation analysis of B3GALTL in Peters Plus syndrome.
American journal of medical genetics. Part A 2008;146A(20):2603-10.
2007: Satoru Sakazume; Elena Sorokina; Yoshiki Iwamoto; Elena V Semina
Functional analysis of human mutations in homeodomain transcription factor PITX3.
BMC molecular biology 2007;8():84.
2006: Elena V Semina; Dmitry Bosenko; Natalya C Zinkevich; Kelly A Soules; David R Hyde; Thomas S Vihtelic; Gregory B Willer; Ronald G Gregg; Brian A Link
Mutations in laminin alpha 1 result in complex, lens-independent ocular phenotypes in zebrafish.
Developmental biology 2006;299(1):63-77.
2006: Mark S Ruttum; Linda M Reis; Elena V Semina
Application of genetic approaches to ocular disease.
Pediatric clinics of North America 2006;53(4):751-65.
2006: Irfan Saadi; Rafael Toro; Adisa Kuburas; Elena V Semina; Jeffrey C Murray; Andrew F Russo
An unusual class of PITX2 mutations in Axenfeld-Rieger syndrome.
Birth defects research. Part A, Clinical and molecular teratology 2006;76(3):175-81.
2006: Nicole L Maciolek; Wallace L M Alward; Jeffrey C Murray; Elena V Semina; Mark T McNally
Analysis of RNA splicing defects in PITX2 mutants supports a gene dosage model of Axenfeld-Rieger syndrome.
BMC medical genetics 2006;7():59.
2006: Natalya S Zinkevich; Dmitry Bosenko; Brian A Link; Elena V Semina
laminin alpha 1 gene is essential for normal lens development in zebrafish.
BMC developmental biology 2006;6():13.
2005: Tord A Hjalt; Elena V Semina
Current molecular understanding of Axenfeld-Rieger syndrome.
Expert reviews in molecular medicine 2005;7(25):1-17.
2005: Xiaohai Shi; Dmitry Bosenko; N S Zinkevich; S Foley; David R Hyde; Elena V Semina; Thomas S Vihtelic
Zebrafish pitx3 is necessary for normal lens and retinal development.
Mechanisms of development 2005;122(4):513-27.
2005: Herbert M Espinoza; Mrudula Ganga; Usha Vadlamudi; Donna M Martin; Brian P Brooks; Elena V Semina; Jeffrey C Murray; Brad A Amendt
Protein kinase C phosphorylation modulates N- and C-terminal regulatory activities of the PITX2 homeodomain protein.
Biochemistry 2005;44(10):3942-54.
2004: Laura A Katz; Rebecca E Schultz; Elena V Semina; C P Torfs; Katherine Krahn; Jeffrey C Murray
Mutations in PITX2 may contribute to cases of omphalocele and VATER-like syndromes.
American journal of medical genetics. Part A 2004;130A(3):277-83.
2004: C McMahon; Elena V Semina; Brian A Link
Using zebrafish to study the complex genetics of glaucoma.
Comparative biochemistry and physiology. Toxicology & pharmacology : CBP 2004;138(3):343-50.
2004: Helen A Mintz-Hittner; Elena V Semina; Laura J Frishman; Thomas C Prager; Jeffrey C Murray
VSX1 (RINX) mutation with craniofacial anomalies, empty sella, corneal endothelial changes, and abnormal retinal and auditory bipolar cells.
Ophthalmology 2004;111(4):828-36.
2004: Brian P Brooks; Sayoko E Moroi; Catherine A Downs; Shannon Wiltse; Mohammad I Othman; Elena V Semina; Julia E Richards
A novel mutation in the PITX2 gene in a family with Axenfeld-Rieger syndrome.
Ophthalmic genetics 2004;25(1):57-62.
2004: Suling Zhao; Sarah Maxwell; Antonio Jimenez-Beristain; Joaquim Vives; Eva Kuehner; Jiexin Zhao; Carmel O'Brien; Carmen de Felipe; Elena V Semina; Meng Li
Generation of embryonic stem cells and transgenic mice expressing green fluorescence protein in midbrain dopaminergic neurons.
The European journal of neuroscience 2004;19(5):1133-40.
2004: Dimitri Trembath; Elena V Semina; Douglas H Jones; Shivanand R Patil; Qining Qian; Brad A Amendt; Andrew F Russo; Jeffrey C Murray
Analysis of two translocation breakpoints and identification of a negative regulatory element in patients with Rieger's syndrome.
Birth defects research. Part A, Clinical and molecular teratology 2004;70(2):82-91.
2003: Dong-Youn Hwang; Paul Ardayfio; Un Jung Kang; Elena V Semina; Kwang-Soo Kim
Selective loss of dopaminergic neurons in the substantia nigra of Pitx3-deficient aphakia mice.
Brain research. Molecular brain research 2003;114(2):123-31.
2002: Donald O Mutti; Elena V Semina; Mary L Marazita; Margaret Cooper; Jeffrey C Murray; Karla Zadnik
Genetic loci for pathological myopia are not associated with juvenile myopia.
American journal of medical genetics 2002;112(4):355-60.
2002: Donna M Martin; Frank J Probst; Sharon E Fox; Lisa A Schimmenti; Elena V Semina; Margaret A Hefner; John W Belmont; Sally A Camper
Exclusion of PITX2 mutations as a major cause of CHARGE association.
American journal of medical genetics 2002;111(1):27-30.
2002: Carol J Cox; Herbert M Espinoza; Bryan McWilliams; Kimberly Chappell; Lisa Morton; Tord A Hjalt; Elena V Semina; Brad A Amendt
Differential regulation of gene expression by PITX2 isoforms.
The Journal of biological chemistry 2002;277(28):25001-10.
2002: Elise Héon; Alex Greenberg; Kelly K Kopp; David S Rootman; Andrea L Vincent; Gail Billingsley; Megan Priston; Kimberley M Dorval; Robert L Chow; Roderick R McInnes; Godfrey Heathcote; Carol A Westall; John E Sutphin; Elena V Semina; Rod Bremner; Edwin M Stone
VSX1: a gene for posterior polymorphous dystrophy and keratoconus.
Human molecular genetics 2002;11(9):1029-36.
2002: Herbert M Espinoza; Carol J Cox; Elena V Semina; Brad A Amendt
A molecular basis for differential developmental anomalies in Axenfeld-Rieger syndrome.
Human molecular genetics 2002;11(7):743-53.
2001: Irfan Saadi; Elena V Semina; Brad A Amendt; D J Harris; K P Murphy; Jeffrey C Murray; Andrew F Russo
Identification of a dominant negative homeodomain mutation in Rieger syndrome.
The Journal of biological chemistry 2001;276(25):23034-41.
2001: Elena V Semina; Isaac Brownell; Helen A Mintz-Hittner; Jeffrey C Murray; Milan Jamrich
Mutations in the human forkhead transcription factor FOXE3 associated with anterior segment ocular dysgenesis and cataracts.
Human molecular genetics 2001;10(3):231-6.
2000: Brad A Amendt; Elena V Semina; Wallace L M Alward
Rieger syndrome: a clinical, molecular, and biochemical analysis.
Cellular and molecular life sciences : CMLS 2000;57(11):1652-66.
2000: Elena V Semina; Jeffrey C Murray; R Reiter; Ronald Hrstka; J Graw
Deletion in the promoter region and altered expression of Pitx3 homeobox gene in aphakia mice.
Human molecular genetics 2000;9(11):1575-85.
2000: Tord A Hjalt; Elena V Semina; Brad A Amendt; Jeffrey C Murray
The Pitx2 protein in mouse development.
Developmental dynamics : an official publication of the American Association of Anatomists 2000;218(1):195-200.
2000: Angela E Lin; Elena V Semina; Sandra Daack-Hirsch; Elizabeth Roeder; Cynthia J Curry; K Rosenbaum; David D Weaver; Jeffrey C Murray
Exclusion of the branchio-oto-renal syndrome locus (EYA1) from patients with branchio-oculo-facial syndrome.
American journal of medical genetics 2000;91(5):387-90.
2000: Elena V Semina; Helen A Mintz-Hittner; Jeffrey C Murray
Isolation and characterization of a novel human paired-like homeodomain-containing transcription factor gene, VSX1, expressed in ocular tissues.
Genomics 2000;63(2):289-93.
1998: Elena V Semina; M R Altherr; Jeffrey C Murray
Cloning and chromosomal localization of two novel human genes encoding LIM-domain binding factors CLIM1 and CLIM2/LDB1/NLI.
Mammalian genome : official journal of the International Mammalian Genome Society 1998;9(11):921-4.
1998: Brad A Amendt; Lillian B Sutherland; Elena V Semina; Andrew F Russo
The molecular basis of Rieger syndrome. Analysis of Pitx2 homeodomain protein activities.
The Journal of biological chemistry 1998;273(32):20066-72.
1998: Andrew C Lidral; Paul A Romitti; AM Basart; T Doetschman; N J Leysens; Sandra Daack-Hirsch; Elena V Semina; L R Johnson; Junichiro Machida; A Burds; T J Parnell; J L Rubenstein; Jeffrey C Murray
Association of MSX1 and TGFB3 with nonsyndromic clefting in humans.
American journal of human genetics 1998;63(2):557-68.
1998: Elena V Semina; R E Ferrell; Helen A Mintz-Hittner; P Bitoun; Wallace L M Alward; Rebecca S Reiter; C Funkhauser; Sandra Daack-Hirsch; Jeffrey C Murray
A novel homeobox gene PITX3 is mutated in families with autosomal-dominant cataracts and ASMD.
Nature genetics 1998;19(2):167-70.
1998: Elena V Semina; Rebecca S Reiter; Jeffrey C Murray
A new human homeobox gene OGI2X is a member of the most conserved homeobox gene family and is expressed during heart development in mouse.
Human molecular genetics 1998;7(3):415-22.
1998: Wallace L M Alward; Elena V Semina; JW Kalenak; Elise Héon; B P Sheth; Edwin M Stone; Jeffrey C Murray
Autosomal dominant iris hypoplasia is caused by a mutation in the Rieger syndrome (RIEG/PITX2) gene.
American journal of ophthalmology 1998;125(1):98-100.
1997: Elena V Semina; Rebecca S Reiter; Jeffrey C Murray
Isolation of a new homeobox gene belonging to the Pitx/Rieg family: expression during lens development and mapping to the aphakia region on mouse chromosome 19.
Human molecular genetics 1997;6(12):2109-16.
1996: Elena V Semina; Rebecca S Reiter; N J Leysens; Wallace L M Alward; K W Small; N A Datson; J Siegel-Bartelt; D Bierke-Nelson; P Bitoun; B U Zabel; J C Carey; Jeffrey C Murray
Cloning and characterization of a novel bicoid-related homeobox transcription factor gene, RIEG, involved in Rieger syndrome.
Nature genetics 1996;14(4):392-9.
1996: N A Datson; Elena V Semina; A A van Staalduinen; Hans Dauwerse; E J Meershoek; J J Heus; Rune R Frants; Johan T den Dunnen; Jeffrey C Murray; Gert-Jan B van Ommen
Closing in on the Rieger syndrome gene on 4q25: mapping translocation breakpoints within a 50-kb region.
American journal of human genetics 1996;59(6):1297-305.
1996: Elena V Semina; N A Datson; N J Leysens; B U Zabel; J C Carey; Graeme I Bell; P Bitoun; C Lindgren; T Stevenson; Rune R Frants; Gert-Jan B van Ommen; Jeffrey C Murray
Exclusion of epidermal growth factor and high-resolution physical mapping across the Rieger syndrome locus.
American journal of human genetics 1996;59(6):1288-96.