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3.4.2 Gene studies (33)
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Display all abstracts in classification 3.4.2 Gene studies
Search within classification 3.4.2 Gene studies25275 OPA1 increases the risk of normal but not high tension glaucoma
Yu-Wai-Man P; Stewart J D; Hudson G; Andrews R M; Griffiths P G; Birch M K; Chinnery P F
Journal of Medical Genetics 2010; 47: 120-125
25253 Homozygous Mutations in ADAMTS10 and ADAMTS17 Cause Lenticular Myopia, Ectopia Lentis, Glaucoma, Spherophakia, and Short Stature
Morales J; Al-Sharif L; Khalil D S; Shinwari J M A; Bavi P; Al-Mahrouqi R A; Al-Rajhi A; Alkuraya F S; Meyer B F; Al Tassan N
American Journal of Human Genetics 2009; 85: 558-568
25090 Variable clinical spectrum of the myocilin Gln368X mutation in a Dutch family with primary open angle glaucoma
Hogewind BF; Mukhopadhyay A; Theelen T; Hollander AI; Hoyng CB
Current Eye Research 2010; 35: 31-36
25184 Heterozygous loss-of-function variants in CYP1B1 predispose to primary open-angle glaucoma
Pasutto F; Chavarria-Soley G; Mardin CY; Michels-Rautenstrauss K; Ingelman-Sundberg M; Fernández-MartÃnez L; Weber BH; Rautenstrauss B; Reis A
Investigative Ophthalmology and Visual Science 2010; 51: 249-254
25264 Functional analysis of CYP1B1 mutations and association of heterozygous hypomorphic alleles with primary open-angle glaucoma
Lopez-Garrido M -P; Blanco-Marchite C; Sanchez-Sanchez F; Lopez-Sanchez E; Chaques-Alepuz V; Campos-Mollo E; Salinas-Sanchez A S; Escribano J
Clinical Genetics 2010; 77: 70-78
25015 Prevalence of myocilin gene mutations in a novel UK cohort of POAG patients
Ennis S; Gibson J; Griffiths H; Bunyan D; Cree AJ; Robinson D; Self J; Macleod A; Lotery A
Eye 2010; 24: 328-333
25366 Seed based systematic discovery of specific transcription factor target genes
Mrowka R; Bluthgen N; Kielbasa S; Persson P B; Fahling M
FASEB Journal 2009; 23: 275: 3178-3192
25208 Replication of a Glaucoma Candidate Gene on 5q22.1 for Intraocular Pressure in Mongolian Populations: The GENDISCAN Project
Lee MK; Woo SJ; Kim JI; Cho SI; Kim H; Sung J; Seo JS; Kim DM
Investigative Ophthalmology and Visual Science 2010; 51: 1335-1340
25113 Congenital glaucoma: CYP1B1 mutations in Israeli Bedouin kindreds
Bar-Yosef U; Levy J; Elbedour K; Ofir R; Carmi R; Birk OS
Journal of Glaucoma 2010; 19: 35-38
25410 LTBP2 null mutations in an autosomal recessive ocular syndrome with megalocornea, spherophakia, and secondary glaucoma
Desir J; Sznajer Y; Depasse F; Roulez F; Schrooyen M; Meire F; Abramowicz M
European Journal of Human Genetics 2010;
25433 Genotyping results of Iranian PCG families suggests one or more PCG locus other than GCL3A, GCL3B, and GCL3C exist.
Narooie-Nejad M; Chitsazian F; Khoramian Tusi B; Mousavi F; Houshmand M; Rohani M R; Hosseinipour A S; Rismanchian A; Elahi E
Molecular Vision 2009; 15: 2155-2161
25488 Three novel polymorphic microsatellite markers for the glaucoma locus GLC1B by datamining tetranucleotide repeats on chromosome 2p12-q12
Murga-Zamalloa C; Guevara-Fujita M L; Estrada-Cuzcano A; Fujita R
Genetics and Molecular Biology 2009; 32: 720-722
25162 Endothelial nitric oxide synthase gene variants and primary open-angle glaucoma: interactions with sex and postmenopausal hormone use
Kang JH; Wiggs JL; Rosner BA; Hankinson SE; Abdrabou W; Fan BJ; Haines J; Pasquale LR
Investigative Ophthalmology and Visual Science 2010; 51: 971-979
25434 Investigation of the association between CALCRL polymorphisms and primary angle closure glaucoma.
Cao D; Liu X; Guo X; Cong Y; Huang J; Mao Z
Molecular Vision 2009; 15: 2202-2208
25437 Evaluation of the CYP1B1 gene as a candidate gene in beagles with primary open-angle glaucoma (POAG).
Kato K; Kamida A; Sasaki N; Shastry B S
Molecular Vision 2009; 15: 2470-2474
25442 Seeing clearly: the dominant and recessive nature of FOXE3 in eye developmental anomalies.
Iseri S U; Osborne R J; Farrall M; Wyatt A W; Mirza G; Nurnberg G; Kluck C; Herbert H; Martin A; Hussain M S
Human Mutation 2009; 30: 1378-1386
25452 Investigation of the association between the GLC3A locus and normal tension glaucoma in Japanese patients by microsatellite analysis
Kamio M; Meguro A; Ota M; Nomura N; Kashiwagi K; Mabuchi F; Iijima H; Kawase K; Yamamoto T; Nakamura M
Clinical Ophthalmology 2009; 3: 183-188
25491 Novel quantitative trait loci for central corneal thickness identified by candidate gene analysis of osteogenesis imperfecta genes.
Dimasi D P; Chen J Y; Hewitt A W; Klebe S; Davey R; Stirling J; Thompson E; Forbes R; Tan T Y; Savarirayan R
Human Genetics 2010; 127: 33-44
25255 Differential effects of myocilin and optineurin, two glaucoma genes, on neurite outgrowth
Koga T; Shen X; Park J -S; Qiu Y; Park B -C; Shyam R; Yue B Y J T
American Journal of Pathology 2010; 176: 343-352
25501 Regulation of endocytic trafficking of transferrin receptor by optineurin and its impairment by a glaucoma-associated mutant
Nagabhushana A; Chalasani M L; Jain N; Radha V; Rangaraj N; Balasubramanian D; Swarup G
BMC Cell Biology 2010; 11: 4
25432 Vasospastic individuals demonstrate significant similarity to glaucoma patients as revealed by gene expression profiling in circulating leukocytes.
Yeghiazaryan K; Flammer J; Orgul S; Wunderlich K; Golubnitschaja O
Molecular Vision 2009; 15: 2339-2348
25263 Primary congenital glaucoma caused by the homozygous F261L CYP1B1 mutation and paternal isodisomy of chromosome 2
Lopez-Garrido M -P; Campos-Mollo E; Harto M-A; Escribano J
Clinical Genetics 2009; 76: 552-557
25175 Mutation spectrum of the CYP1B1 gene for congenital glaucoma in the Japanese population
Fuse N; Miyazawa A; Takahashi K; Noro M; Nakazawa T; Nishida K
Japanese Journal of Ophthalmology 2010; 54: 1-6
25409 Axenfeld-Rieger syndrome and spectrum of PITX2 and FOXC1 mutations
Tumer Z; Bach-Holm D
European Journal of Human Genetics 2009; 17: 1527-1539
25274 Human PRKC apoptosis WT1 regulator is a novel PITX2-interacting protein that regulates PITX2 transcriptional activity in ocular cells
Acharya M; Lingenfelter D J; Huang L; Gage P J; Walter M A
Journal of Biological Chemistry 2009; 284: 34829-34838
