A
Andreas Gal
Researcher at University of Hamburg
Publications - 241
Citations - 15288
Andreas Gal is an academic researcher from University of Hamburg. The author has contributed to research in topics: Retinitis pigmentosa & Gene. The author has an hindex of 66, co-authored 241 publications receiving 14467 citations. Previous affiliations of Andreas Gal include University of Lübeck & University of Michigan.
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Journal ArticleDOI
Mutations in MERTK, the human orthologue of the RCS rat retinal dystrophy gene, cause retinitis pigmentosa.
Andreas Gal,Yun Li,Debra A. Thompson,Jessica Weir,Ulrike Orth,Samuel G. Jacobson,Eckart Apfelstedt-Sylla,Douglas Vollrath +7 more
TL;DR: These findings are the first conclusive evidence implicating the RPE phagocytosis pathway in human retinal disease.
Journal ArticleDOI
Mutations in RPE65 cause autosomal recessive childhood-onset severe retinal dystrophy.
Sumin Gu,Debra A. Thompson,C. R.Srisailapathy Srikumari,Birgit Lorenz,Ulrich Finckh,Aileen Nicoletti,K. R. Murthy,Michaela Rathmann,Govindasamy Kumaramanickavel,Michael J. Denton,Andreas Gal +10 more
TL;DR: The analysis of RPE65 in a collection of about 100 unselected retinal-dystrophy patients of different ethnic origin revealed five that are likely to be pathogenic mutations, including a missense mutation, two point mutations affecting splicing and two small re-arrangements on a total of nine alleles of five patients with arCSRD.
Journal ArticleDOI
Mutation of CDH23, encoding a new member of the cadherin gene family, causes Usher syndrome type 1D
Hanno J. Bolz,von Brederlow B,Alfredo Ramirez,Elizabeth C. Bryda,Kerstin Kutsche,Hans Gerd Nothwang,Mathias W. Seeliger,del C-Salcedó Cabrera M,Vila Mc,Molina Op,Andreas Gal,Christian Kubisch +11 more
TL;DR: The data show that different mutations in CDH23 result in USH1D with a variable retinal phenotype, and it is shown that mutations in the mouse ortholog cause disorganization of inner ear stereocilia and deafness in the waltzer mouse.
Journal ArticleDOI
A defect in harmonin, a PDZ domain-containing protein expressed in the inner ear sensory hair cells, underlies Usher syndrome type 1C.
Elisabeth Verpy,Michel Leibovici,Ingrid Zwaenepoel,Xue Zhong Liu,Andreas Gal,Nabiha Salem,Ahmad M. Mansour,Stéphane Blanchard,Ichiro Kobayashi,Bronya J.B. Keats,Rima Slim,Christine Petit +11 more
TL;DR: A gene underlying USH1C is identified, encoding a PDZ-domain–containing protein, harmonin, in a subtracted mouse cDNA library derived from inner ear sensory areas, and it is proposed that Ush1C also underlies the DFNB18 form of isolated deafness.
Journal ArticleDOI
Mutations in ARHGEF6 , encoding a guanine nucleotide exchange factor for Rho GTPases, in patients with X-linked mental retardation
Kerstin Kutsche,Helger G. Yntema,A. Brandt,I. Jantke,Hans Gerd Nothwang,Ulrike Orth,M.G. Boavida,D. David,Jamel Chelly,J. P. Fryns,Claude Moraine,H.H. Ropers,B.C.J. Hamel,J.H.L.M. van Bokhoven,Andreas Gal +14 more
TL;DR: The identification of a new MRX gene, ARHGEF6 (also known as αPIX or Cool-2), encoding a protein with homology to guanine nucleotide exchange factors for Rho GTPases (Rho GEF).