Results 71 to 80 of about 6,753,476 (214)

Derivation of cochlear cells from pathological or isogenic human iPSCs for modeling hereditary hearing loss [PDF]

, 2016
Alström Syndrome (AS) is a human autosomal recessive genetic disorder characterized by numerous clinical symptoms including deafness. AS is caused by mutations in the ALMS1 gene encoding for ALMS1 protein expressed at the basal body and implicated in ...
Czajkowski, Amandine, Delacroix, Laurence, Grobarczyk, Benjamin, Hanon, Kevin, LEFEBVRE, Philippe, Malgrange, Brigitte   +5 more
core  

Expression of ALMS1 in podocytes: possible role in filtration function

The FASEB Journal, 2022
Previously, we identified Alstrom Syndrome 1 (ALMS1) as an interacting partner of NKCC2 in the Thick Ascending limb of the loop of Henle (TAL). Mutations in the ALMS1 gene in humans cause Alström syndrome, characterized by progressive metabolic ...
Dipak Maskey, Ankita Jayakumar, Sumit R Monu, P. Ortiz   +3 more
semanticscholar   +1 more source

Clinical exome sequencing facilitates the understanding of genetic heterogeneity in Leber congenital amaurosis patients with variable phenotype in southern India

Eye and Vision, 2021
Background Leber congenital amaurosis (LCA), primarily characterized by retinal degeneration is the most severe form of inherited retinal dystrophy (IRD) responsible for congenital blindness.
Sriee Viswarubhiny, Rupa Anjanamurthy, Ayyasamy Vanniarajan, Devarajan Bharanidharan, Vijayalakshmi Perumalsamy, Periasamy Sundaresan   +5 more
doaj   +1 more source

Alström Syndrome: Four Case Reports [PDF]

, 2009
A Síndrome de Alström (SA, MIM# 203800) é uma doença hereditária, de transmissão autossómica recessiva, descrita pela primeira vez em 1959, por Alström. O gene ALMS1, causador da doença, foi identificado em 2002 e localiza-se no cromossoma 2p13.
Fonseca, G, Kay, T, Lopes, L, Lourenço, T, Melo, A, Pina, R, Santa Marta, I, Xavier, A   +7 more
core  

A systems-biology approach to understanding the ciliopathy disorders. [PDF]

, 2011
'Ciliopathies' are an emerging class of genetic multisystemic human disorders that are caused by a multitude of largely unrelated genes that affect ciliary structure/function.
Gleeson, Joseph G, Lee, Ji Eun
core   +1 more source

Decoding the Genetic Puzzle of Inherited Retinal Dystrophies: Novel Insights From a Turkish Cohort

Clinical Genetics, Volume 108, Issue 5, Page 532-552, November 2025.
This study analyzes 94 IRD patients from a Turkish cohort using a 141‐gene NGS panel, achieving a 74% diagnostic yield. The identification of 28 novel variants highlights the genetic diversity of IRDs in Türkiye and underscores the value of population‐specific molecular testing.
Şenol Demir, Esra Arslan Ateş, Orkun Sevik, Bengisu Sözer, Tuğba Köse, Özlem Şahin, Ahmet Arman, Bilgen Bilge Geçkinli   +7 more
wiley   +1 more source

A case report of two siblings with Alstrom syndrome without hearing loss associated with two new ALMS1 variants

BMC Ophthalmology, 2019
Background Alström syndrome (AS) is a rare monogenic disorder characterized by progressive multi-organ pathology including retinal degeneration, hearing impairment and type 2 diabetes.
Maria F. Shurygina, Maria A. Parker, Catie L. Schlechter, Rui Chen, Yumei Li, Richard G. Weleber, Paul Yang, Mark E. Pennesi   +7 more
doaj   +1 more source

Mutation identification and prediction for severe cardiomyopathy in Alström syndrome, and review of the literature for cardiomyopathy

Orphanet Journal of Rare Diseases, 2022
Objective Alström syndrome (ALMS) is a rare autosomal recessive genetic disorder that is caused by homozygous or compound heterozygous mutation in the ALMS1 gene. Dilated cardiomyopathy (DCM) is one of the well-recognized features of the syndrome ranging
Savas Dedeoglu, Elif Dede, Funda Oztunc, Asuman Gedikbasi, Gozde Yesil, Reyhan Dedeoglu   +5 more
doaj   +1 more source

Chromophore supply modulates cone function and survival in retinitis pigmentosa mouse models. [PDF]

, 2023
Retinitis pigmentosa (RP) is an ocular disease characterized by the loss of night vision, followed by the loss of daylight vision. Daylight vision is initiated in the retina by cone photoreceptors, which are gradually lost in RP, often as bystanders in a
Cepko, Constance L, Collin, Gayle B, Kefalov, Vladimir J, Sun, Xiaomei, Wang, Sean K, Xue, Yunlu   +5 more
core   +2 more sources

The role of an ophthalmologist in the Alström syndrome diagnosis [PDF]

Vojnosanitetski Pregled, 2019
Introduction. The Alström syndrome (AS) is an extremely rare autosomal recessive genetic disorder, affecting fewer than 1: 1,000,000 people globally. It is a single gene disorder due to the mutation of ALMS1 on chromosome 2 (2p13).
Karadžić Jelena, Pantelić Jelica, Kovačević Igor, Trenkić-Božinović Marija   +3 more
doaj   +1 more source