Results 81 to 90 of about 62,782 (280)

Retinitis pigmentosa‐1 due to an RP1 mutation in a consanguineous Iranian family: Report of a novel mutation

Clinical Case Reports
Key Clinical Message The identification of a novel RP1 gene mutation highlights the importance of precise variant identification for retinitis pigmentosa prognosis and genetic consultations, emphasizing comprehensive genetic analysis for personalized ...
Mostafa Neissi, Motahareh Sheikh‐Hosseini, Javad Mohammadi‐Asl   +2 more
doaj   +1 more source

Bardet Biedl syndrome – report of a very rare case

National Journal of Clinical Anatomy, 2016
Bardet Biedl Syndrome is a autosomal recessive condition with a wide spectrum of clinical features. The principal manifestations of the syndrome are Post axial Polydactyly, Retinitis Pigmentosa, truncal obesity, hypogonadism & renal dysfunction.
Asha Shirahatti, Daksha Dixit, Harshavardhan Pati   +2 more
doaj   +1 more source

Autosomal Dominant Retinal Dystrophies Caused by a Founder Splice Site Mutation, c.828+3A>T, in PRPH2 and Protein Haplotypes in trans as Modifiers. [PDF]

, 2016
PurposeWe determined the phenotypic variation, disease progression, and potential modifiers of autosomal dominant retinal dystrophies caused by a splice site founder mutation, c.828+3A>T, in the PRPH2 gene.MethodsA total of 62 individuals (19 families)
Birch, David G, Bowne, Sara J, Conneely, Karen N, Daiger, Stephen P, Hughbanks-Wheaton, Dianna K, Shankar, Suma P, Stone, Edwin M, Sullivan, Lori S   +7 more
core  

Disruption of the basal body protein POC1B results in autosomal-recessive cone-rod dystrophy [PDF]

, 2014
Exome sequencing revealed a homozygous missense mutation (c.317C>G [p.Arg106Pro]) in POC1B, encoding POC1 centriolar protein B, in three siblings with autosomal-recessive cone dystrophy or cone-rod dystrophy and compound-heterozygous POC1B mutations (c ...
Arts, Heleen H, Coppieters, Frauke, Cremers, Frans PM, De Baere, Elfride, de Vrieze, Erik, den Hollander, Anneke I, Hetterschijt, Lisette, Hoyng, Carel B, Kremer, Hannie, Lambertus, Stanley, Lamers, Ideke JC, Letteboer, Stef JF, Peters, Theo A, POC1B Study Group, the, Roepman, Ronald, Roosing, Susanne, van den Born, L Ingeborgh, van Wijk, Erwin   +17 more
core   +2 more sources

Molecular insights into electroreceptor ribbon synapses from differential gene expression in sturgeon lateral line organs

Journal of Anatomy, EarlyView.
The expression of various genes involved in synapse development, stability and/or function was studied in developing mechanosensory neuromasts and electrosensory ampullary organs in sterlet sturgeon. Most were shared, including Slc17a8, Slc1a3 and Nrxn3, but Cbln18 was neuromast‐restricted and Tulp1 was ampullary organ‐restricted.
Alexander S. Campbell, Martin Minařík, David Buckley, Tanmay Anand, David Gela, Martin Pšenička, Clare V. H. Baker   +6 more
wiley   +1 more source

Midlife diagnosis of Refsum Disease in siblings with Retinitis Pigmentosa – the footprint is the clue: a case report

Journal of Medical Case Reports, 2008
Introduction Refsum disease is a potentially lethal and disabling condition associated with retinitis pigmentosa in which early treatment can prevent some of the systemic manifestations.
Jayaram Hari, Downes Susan M
doaj   +1 more source

Homozygosity Mapping and Genetic Analysis of Autosomal Recessive Retinal Dystrophies in 144 Consanguineous Pakistani Families. [PDF]

, 2017
PurposeThe Pakistan Punjab population has been a rich source for identifying genes causing or contributing to autosomal recessive retinal degenerations (arRD).
Akram, Javed, Ayyagari, Radha, Cabrera, Patricia E, Chen, Jianjun, Chen, Yabin, Govindarajan, Gowthaman, Gupta, Nikhil, Hejtmancik, J Fielding, Huang, Li, Jiang, Dan, Jiao, Xiaodong, Jin, Chongfei, Khan, Shaheen N, Li, Jiali, Li, Lin, M'hamdi, Oussama, Ma, Xiaoyin, Ma, Yan, Ma, Zhiwei, Naeem, Muhammad Asif, Riazuddin, S Amer, Riazuddin, Sheikh, Sieving, Paul A, Sun, Wenmin, Tanwar, Mukesh   +24 more
core   +1 more source

Frequency responses of human magnetophosphene perception thresholds during dark adaptation point to rod modulation

Experimental Physiology, EarlyView.
Abstract Magnetophosphenes are flickering lights perceived when an extremely low frequency magnetic field generates a sufficiently strong electric field in the head. Understanding how phosphenes are produced is crucial, as they form the basis for international safety standards and guidelines for both workers and the general population.
Nicolas Bouisset, Andres Carvallo, Sebastien Villard, Ilkka Laakso, Alexandre Legros   +4 more
wiley   +1 more source

The Role of the Endothelin System in the Vascular Dysregulation Involved in Retinitis Pigmentosa

Journal of Ophthalmology, 2015
Retinitis pigmentosa is a clinical and genetic group of inherited retinal disorders characterized by alterations of photoreceptors and retinal pigment epithelium leading to a progressive concentric visual field restriction, which may bring about severe ...
Francesco Saverio Sorrentino, Claudio Bonifazzi, Paolo Perri   +2 more
doaj   +1 more source

Targeted Next‐Generation Sequencing of the Leptin‐Melanocortin Pathway in Severe Obesity

Obesity, Volume 34, Issue 2, Page 499-511, February 2026.
ABSTRACT Objective Pathogenic variants in five established leptin‐melanocortin pathway genes (LEP, LEPR, MC4R, PCSK1, POMC) are associated with severe early‐onset obesity and are targets for emerging treatments. However, these variants are rare in these patients, suggesting the involvement of additional genes interacting with this pathway. Methods Next‐
Nathan Faccioli, Chrisitne Poitou, Mathieu Georget, Françoise Bertin, Ahlam Azar‐Kolakez, Claire Carette, Pauline Faucher, Blandine Gatta‐Cherifi, Julie Gonneau‐Lejeune, Agnès Linglart, Karine Clément, Johanne Le Beyec‐Le Bihan, Béatrice Dubern   +12 more
wiley   +1 more source