Results 31 to 40 of about 1,144,628 (153)

alms1 mutant zebrafish do not show hair cell phenotypes seen in other cilia mutants.

PLoS ONE, 2021
Multiple cilia-associated genes have been shown to affect hair cells in zebrafish (Danio rerio), including the human deafness gene dcdc2, the radial spoke gene rsph9, and multiple intraflagellar transport (IFT) and transition zone genes.
Lauren Parkinson, Tamara M Stawicki
doaj   +1 more source

Theory-of-mind in individuals with Alström syndrome is related to Executive functions, and verbal ability

Frontiers in Psychology, 2015
Objective: This study focuses on cognitive prerequisites for the development of Theory-of-mind (ToM), the ability to impute mental states to self and others in young adults with Alström syndrome (AS).
Hans-Erik Ivert Frölander, Hans-Erik Ivert Frölander, Hans-Erik Ivert Frölander, Hans-Erik Ivert Frölander, Hans-Erik Ivert Frölander, Claes eMöller, Claes eMöller, Claes eMöller, Claes eMöller, Claes eMöller, Mary eRudner, Mary eRudner, Mary eRudner, Sushmit eMishra, Jan D Marshall, Jan D Marshall, Heather Marie Piacentini, Björn eLyxell, Björn eLyxell, Björn eLyxell   +19 more
doaj   +1 more source

Novel Mutations in the MKKS, BBS7, and ALMS1 Genes in Iranian Children with Clinically Suspected Bardet–Biedl Syndrome

Case Reports in Ophthalmological Medicine, 2022
Bardet–Biedl syndrome is a rare autosomal recessive form of syndromic obesity which is characterized by retinal degeneration, obesity, polydactyly, cognitive impairment, and renal and urogenital anomalies.
Roghayeh Dehghan, Mahdiyeh Behnam, Mansoor Salehi, Roya Kelishadi   +3 more
doaj   +1 more source

GLUT4 defects in adipose tissue are early signs of metabolic alterations in Alms1GT/GT, a mouse model for obesity and insulin resistance. [PDF]

PLoS ONE, 2014
Dysregulation of signaling pathways in adipose tissue leading to insulin resistance can contribute to the development of obesity-related metabolic disorders.
Francesca Favaretto, Gabriella Milan, Gayle B Collin, Jan D Marshall, Fabio Stasi, Pietro Maffei, Roberto Vettor, Jürgen K Naggert   +7 more
doaj   +1 more source

Female Alms1-deficient mice develop echocardiographic features of adult but not infantile Alström syndrome cardiomyopathy [PDF]

Disease Models & Mechanisms
Eleanor J. McKay, Ineke Luijten, Sophie Broadway-Stringer, Adrian Thomson, Xiong Weng, Katya Gehmlich, Gillian A. Gray, Robert K. Semple   +7 more
doaj   +2 more sources

Translational readthrough of ciliopathy genes BBS2 and ALMS1 restores protein, ciliogenesis and function in patient fibroblasts

EBioMedicine, 2021
Background: Ciliary dysfunction underlies a range of genetic disorders collectively termed ciliopathies, for which there are no treatments available. Bardet-Biedl syndrome (BBS) is characterised by multisystemic involvement, including rod-cone dystrophy ...
Jonathan Eintracht, Elizabeth Forsythe, Helen May-Simera, Mariya Moosajee   +3 more
doaj   +1 more source

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

[Alström-syndrome: a missed diagnosis with consequences]

, 2003
BACKGROUND: Alström-syndrome (OMIM: 203 800) is a rare disease with autosomal recessive inheritance. Characteristic features are retinal degeneration, truncal obesity, diabetes mellitus and sensorineural hearing loss.
Baumeister, FA;Sadowski, B;Schmitz, T;Grübl, A
core   +1 more source

Characterization of Alstrom Syndrome 1 (ALMS1) Transcript Variants in Hodgkin Lymphoma Cells. [PDF]

PLoS ONE, 2017
The Alstrom syndrome gene (ALMS1) is one of the largest disease associated genes identified today in the human genome and is implicated in cell cycle control, ciliogenesis, endosome recycling and intracellular transport mechanisms.
Katarina Braune, Ines Volkmer, Martin S Staege   +2 more
doaj   +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