Results 81 to 90 of about 1,999 (178)
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 +7 more
doaj +1 more source
Comparison of the proportion of ALMS1 variant carriers in the Scottish Fold cats. [PDF]
, 2023 Comparison of the proportion of ALMS1 variant carriers in the Scottish Fold cats.
Yunosuke Yuchi (15314555) +5 more
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 +7 more
wiley +1 more source
Clusters of adaptive evolution in the human genome
Frontiers in Genetics, 2011 Considerable work has been devoted to identifying regions of the human genome that have been subjected to recent positive selection. Although detailed follow-up studies of putatively selected regions are critical for a deeper understanding of human ...
Laura B. Scheinfeldt +4 more
doaj +1 more source
Identification of Two Cases of Ciliopathy-Associated Diabetes and Their Mutation Analysis Using Whole Exome Sequencing [PDF]
Diabetes & Metabolism Journal, 2015 BackgroundAlström syndrome and Bardet-Biedl syndrome are autosomal recessively inherited ciliopathies with common characteristics of obesity, diabetes, and blindness.
Min Kyeong Kim +6 more
doaj +1 more source
Frontiers in Genetics, 2020 Alström syndrome (ALMS) is a rare autosomal recessive multi-organ syndrome considered to date as a ciliopathy and caused by variations in ALMS1. Phenotypic variability is well-documented, particularly for the systemic disease manifestations; however ...
Laura Mauring +13 more
doaj +1 more source
Hypertension precedes metabolic syndrome in the alms1 (alstrom syndrome 1) knockout rat [PDF]
, 2018 We previously found that Alstrom syndrome 1 protein (ALMS1) is expressed in the kidney where it regulates thick ascending limb (TAL) NaCl reabsorption by controlling NKCC2 endocytosis.
Ortiz, Pablo A, King-Medina, Keyona N
core
Alms1L2131X/L2131X Mice Recapitulate Human Alström Syndrome [PDF]
, 2013 (A) Alms1L2131X/L2131X mice gain more fat mass than heterozygote or wild-type controls but equivalent lean mass.(B) Histological examination of Alms1L2131X/L2131X mice and wild-type littermate control.
Guochun Li (273973) +8 more
core +1 more source
Genomic knockout of alms1 in zebrafish recapitulates Alström syndrome and provides insight into metabolic phenotypes [PDF]
Human Molecular Genetics, 2018 SCIENTIFIC ABSTRACT Alström syndrome is an autosomal recessive obesity ciliopathy caused by loss-of-function mutations in the ALMS1 gene. In addition to multi-organ dysfunction, such as cardiomyopathy, retinal degeneration, and renal dysfunction, the disorder is characterized by ...
Nesmith, Jessica E. +10 more
openaire +3 more sources
Y2H interaction domains of ALMS1 and α-actinin. [PDF]
, 2013 (A) Direct interaction tests with truncated ALMS1 constructs reveals that both constructs were sufficient for the interaction with α-actinin. However the most C-terminal construct showed the strongest interaction.
Jan D. Marshall (223480) +6 more
core +1 more source