Results 81 to 90 of about 615 (141)

Characterisation of infantile cardiomyopathy in Alström Syndrome using ALMS1 Knockout induced pluripotent stem cell derived cardiomyocyte model [PDF]

Alström syndrome (AS) is an inherited rare ciliopathy characterised by multi-organ dysfunction and premature cardiovascular disease. This may manifest as an infantile-onset dilated cardiomyopathy with significant associated mortality.
Geberhiwot, Tarek, Chikermane, Ashish, Steeds, Richard, Gehmlich, Katja; id_orcid, Roy, Ashwin, Rath, Phalguni, O'Shea, Christopher, Nieves, Daniel; id_orcid, Davies, Ben, Pavlovic, Davor, Hall, Caitlin, Azad, Amar, Barlow, Jonathan, Patel, Leena   +13 more
core   +1 more source

A truncating mutation of Alms1 reduces the number of hypothalamic neuronal cilia in obese mice

Developmental Neurobiology, 2012
AbstractPrimary cilia are ubiquitous cellular antennae whose dysfunction collectively causes various disorders, including vision and hearing impairment, as well as renal, skeletal, and central nervous system anomalies. One ciliopathy, Alström syndrome, is closely related to Bardet–Biedl syndrome (BBS), sharing amongst other phenotypic features morbid ...
Heydet, Deborah, Chen, Lesley X., Larter, Claire, Inglis, Chrystal, Silverman, Michael A., Farrell, Geoffrey, Leroux, Michel R.   +6 more
openaire   +3 more sources

Generation of an induced pluripotent stem cell line from an Alström Syndrome patient with ALMS1 mutation (c.3902C > A, c.6436C > T) and a gene correction isogenic iPSC line

Stem Cell Research, 2020
To develop a disease model for the human Alström Syndrome (AS), we used the episomal reprogramming system and CRISPR/Cas9 technology to generate an induced pluripotent stem cell (iPSC) line with the compound heterozygous patient mutation (ALMS1 c.3902C > 
Xiaoli Ji, Qingyuan Tang, Chuanqing Tang, Ziyan Wu, Ling Ma, Xiaohong Guo, Guoqiang Cheng, Yuejun Chen, Tong Yang, Man Xiong, Wenhao Zhou   +10 more
doaj   +1 more source

Early genetic screening and cardiac intervention in patients with cardiomyopathies in a multidisciplinary clinic

ESC Heart Failure, Volume 12, Issue 3, Page 1942-1955, June 2025.
Abstract Aims Patients with cardiomyopathies are a heterogeneous group of patients who experience high morbidity and mortality. Early cardiac assessment and intervention with access to genetic counselling in a multidisciplinary Cardiomyopathy Clinic may improve outcomes and prevent progression to advanced heart failure.
Chandu Sadasivan, Luke R. Gagnon, Deepan Hazra, Kaiming Wang, Erik Youngson, Jissy Thomas, Anita Y.M. Chan, D. Ian Paterson, Finlay A. McAlister, Tara Dzwiniel, Wayne Tymchak, Susan Christian, Gavin Y. Oudit   +12 more
wiley   +1 more source

The Alstrom Syndrome Protein, ALMS1, Interacts with alpha-Actinin and Components of the Endosome Recycling Pathway [PDF]

, 2012
Alström syndrome (ALMS) is a progressive multi-systemic disorder characterized by cone-rod dystrophy, sensorineural hearing loss, childhood obesity, insulin resistance and cardiac, renal, and hepatic dysfunction. The gene responsible for Alström syndrome,
Naggert, JK, Collin, GB, Maffei, P, Jagger, DJ, Milan, G, Marshall, JD, King, BL   +6 more
core  

Hypertension precedes metabolic syndrome in the alms1 (alstrom syndrome 1) knockout rat

, 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   +1 more source

Phosphoproteomic profiling highlights CDC42 and CDK2 as key players in the regulation of the TGF-β pathway in ALMS1 and BBS1 knockout models

Scientific Reports
The primary cilium is a sensory organelle that extends from the plasma membrane. It plays a vital role in physiological and developmental processes by controlling different signalling pathways such as WNT, Sonic hedgehog (SHh), and transforming growth ...
Brais Bea-Mascato, Girolamo Giudice, Iguaracy Pinheiro-de-Sousa, Carlos Solarat, Pablo Barbeito, Evangelia Petsalaki, Diana Valverde   +6 more
doaj   +1 more source

Identification of ACBP as a potential target in ciliopathic obesity through multi-omics network analysis

Nature Communications
Ciliopathies are genetic disorders characterized by defective primary cilia function, with obesity as a clinical manifestation in certain cases, including Alström syndrome, which is caused by ALMS1 mutations.
Yaiza Corral Nieto, Amanda Gabrielly Fernández Pereira, Laura Ventura-San Pedro, Sonia Belén Paredes, Ana Elena Pérez-Cobas, María Perez-Lanzon, Sylvere Durand, Paula Moreno-Cruz, Laura Manrique, Rocío Benítez-Fernández, Héctor Leal Lassalle, Yulia A. Nevzorova, Francisco Javier Cubero, Élida Alechaga, Oscar J. Pozo, Patricia Boya, José Manuel Fuentes, Valentina Sica, Guido Kroemer, José Manuel Bravo-San Pedro   +19 more
doaj   +1 more source

Whole genome sequencing identifies a novel ALMS1 gene mutation in two Chinese siblings with Alström syndrome

BMC Medical Genetics, 2017
Background Alström syndrome is a rare multi-systemic disorder with a broad spectrum of symptoms. This syndrome is characterized by childhood retinal degeneration; sensorineural hearing loss; obesity; type 2 diabetes mellitus; cardiomyopathy; systemic ...
Lin Yang, Zixiu Li, Mei Mei, Xiaomei Fan, Guodong Zhan, Huijun Wang, Guoying Huang, Mingbang Wang, Weidong Tian, Wenhao Zhou   +9 more
doaj   +1 more source

Adipose tissue characterization in 6 week-old Alms1^GT/GT mice.

, 2014
(a) Weight of subcutaneous (SAT) and visceral (VAT) tissues of wt (black bars) and Alms1GT/GT (white bars) mice ...
Jan D. Marshall (223480), Fabio Stasi (641679), Pietro Maffei (223489), Jürgen K. Naggert (223486), Gayle B. Collin (223482), Roberto Vettor (223495), Gabriella Milan (223492), Francesca Favaretto (223477)   +7 more
core   +1 more source