Photoreceptor Guanylate Cyclase (GUCY2D) Mutations Cause Retinal Dystrophies by Severe Malfunction of Ca2+-Dependent Cyclic GMP Synthesis

Autor: Hanna Wimberg, Dorit Lev, Keren Yosovich, Prasanthi Namburi, Eyal Banin, Dror Sharon, Karl-Wilhelm Koch

Publikováno v: Frontiers in Molecular Neuroscience, Vol 11 (2018)

Over 100 mutations in GUCY2D that encodes the photoreceptor guanylate cyclase GC-E are known to cause two major diseases: autosomal recessive Leber congenital amaurosis (arLCA) or autosomal dominant cone-rod dystrophy (adCRD) with a poorly understood

Externí odkaz: https://doaj.org/article/f970ee8f04464b5182b33936892516ca

TRPM1 Mutations are the Most Common Cause of Autosomal Recessive Congenital Stationary Night Blindness (CSNB) in the Palestinian and Israeli Populations

Autor: Karen Hendler, Claudia Yahalom, Isabelle Audo, Dror Sharon, Samer Khateb, Alaa AlTalbishi, Christina Zeitz, Prasanthi Namburi, Ruth Sheffer, Eyal Banin, Lina Zelinger

Publikováno v: Scientific Reports
Scientific Reports, Nature Publishing Group, 2019, 9, pp.12047. ⟨10.1038/s41598-019-46811-7⟩
Scientific Reports, 2019, 9, pp.12047. ⟨10.1038/s41598-019-46811-7⟩
Scientific Reports, Vol 9, Iss 1, Pp 1-6 (2019)

Precise genetic and phenotypic characterization of congenital stationary night blindness (CSNB) patients is needed for future therapeutic interventions. The aim of this study was to estimate the prevalence of CSNB in our populations and to study clin

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::366e3c7c5faeed44407c34e0bf0d8a2f
http://europepmc.org/articles/PMC6700182

Clinical and genetic characterization of a large primary open angle glaucoma pedigree

Autor: Mohideen Abdul Kader, Alan L. Robin, Subbiah. R. Krishnadas, John H. Fingert, Ben R. Roos, Sundaresan Periasamy, Prasanthi Namburi, Sarika Ramugade, Rengappa Ramakrishnan

Publikováno v: Ophthalmic Genetics. 38:222-225

To both characterize the clinical features of large primary open angle glaucoma (POAG) pedigree from a village in southern India and to investigate the genetic basis of their disease.Eighty-four members of a large pedigree received complete eye exami

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bc09002328c775003d099a8b3bcbcd86
https://doi.org/10.1080/13816810.2016.1193883

Genetic Analysis of the Rhodopsin Gene Identifies a Mosaic Dominant Retinitis Pigmentosa Mutation in a Healthy Individual

Autor: Avigail Beryozkin, Prasanthi Namburi, Anand Swaroop, Eyal Banin, Libe Gradstein, Gal Levy, Dror Sharon, Yair Morad, Segev Meyer, Anat Blumenfeld

Publikováno v: Investigative Ophthalmology & Visual Science

PURPOSE Retinitis pigmentosa (RP) is a group of clinically and genetically heterogeneous hereditary retinal diseases that result in blindness due to photoreceptor degeneration. Mutations in the rhodopsin (RHO) gene are the most common cause of autoso

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::061638f72678cf71965ff71c773004aa
https://pubmed.ncbi.nlm.nih.gov/26962691

Nonsyndromic Early-Onset Cone-Rod Dystrophy and Limb-Girdle Muscular Dystrophy in a Consanguineous Israeli Family are Caused by Two Independent yet Linked Mutations in ALMS1 and DYSF

Autor: Rinki Ratnapriya, Zohar Argov, Eli Pikarsky, Mousumi Mutsuddi, Dror Sharon, Avigail Beryozkin, Adva Kimchi, Eyal Banin, Anand Swaroop, Yakov Fellig, Alexey Obolensky, Devorah Marks-Ohana, Csilla H. Lazar, Prasanthi Namburi, Ziva Ben-Neriah, Lina Zelinger, Shiran Ben-Simhon

Publikováno v: Human mutation. 36(9)

Genetic analysis of clinical phenotypes in consanguineous families is complicated by co-inheritance of large DNA regions carrying independent variants. Here we characterized a family with early onset cone-rod dystrophy (CRD) and muscular dystrophy. H

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8fb88e1d9293d4f9a7bdf0555e6cfd6e
https://pubmed.ncbi.nlm.nih.gov/26077327