Results 41 to 50 of about 2,469,352 (177)

Alstrom syndrome with classical findings: a rare case report of monogenic ciliopathy co-occurrence in twins. [PDF]

Ann Med Surg (Lond)
Introduction and importance: Alstrom syndrome is one of the rarest monogenic ciliopathy belonging to autosomal recessive disorder. The pathophysiology of Alstrom syndrome is not well understood but based upon the available medical literature its ...
Ghimire S, Simkhada S, Thapa S, Ghising K.   +3 more
europepmc   +2 more sources

Generation of an induced pluripotent stem cell line from an Alström syndrome patient with biallelic ALMS1 pathogenic variants

Stem Cell Research
We report on the generation of the human iPSC line (ALMS1-STBG-1) from a patient with Alström syndrome with compound heterozygote pathogenic variants in ALMS1: c.[2822T>A];[4714_4715dup], p.[(Leu941*)];[(Ser1573Thrfs*25)].
Samira Secula, Nejla Erkilic, Cathy Obringer, Catherine Jaeger, Anne Sophie Leuvrey, Jean Muller, Vasiliki Kalatzis, Hélène Dollfus   +7 more
doaj   +2 more sources

8488 Sex-Specific Differences in an Alstrom Syndrome Mouse Model [PDF]

J Endocr Soc
Disclosure: Y. Carcamo-Bahena: None. J. Youn: None. E. Lartigue: None. S. Sisley: None. Background: Alström syndrome is a monogenic autosomal recessive disorder caused by loss of the ALMS1 gene that affects 1 in 1 million.
Y. Carcamo-Bahena, J. Youn, E. Lartigue, S. Sisley   +3 more
europepmc   +2 more sources

Alstrom Syndrome with Novel ALMS1 Mutations: A Case Report [PDF]

Experimental and Clinical Endocrinology & Diabetes Reports, 2017
Abstract Objective To report novel mutations of ALMS1 and evaluate clinical characteristics in the Chinese Child with Alstrom syndrome (ALMS). Methods The Child and his parents were examined clinically and venous blood was collected. ALMSl gene analysis was carried out using DNA Sanger sequencing.
Lanrong Liu, Hong Li, Lixin Shi
exaly   +2 more sources

Neovascularization of the optic disc and peripheral retinal ischemia in a child with a novel variant in ALMS1 (Alström syndrome)

American Journal of Ophthalmology Case Reports, 2022
Purpose: The ophthalmologic findings in Alström syndrome include cone-rod dystrophy, optic atrophy, optic disc drusen, and retinal telangiectasias with exudative retinopathy.
Melinda Y. Chang, Mark S. Borchert, Ryan Schmidt, Aaron Nagiel   +3 more
doaj   +1 more source

A Rare Case of Severe Dilated Cardiomyopathy in Early Infancy

The Thoracic & Cardiovascular Surgeon Reports, 2021
We report the case of a 3-month-old girl presenting with end-stage dilated cardiomyopathy and therapy-resistant cardiogenic shock. A left ventricular assist device (LVAD) Berlin Heart EXCOR was implanted, her organs recovered, and she was listed for ...
Meike Schwendt, Johannes Kroll, Thilo Fleck, Brigitte Stiller   +3 more
doaj   +1 more source

A role for Alström syndrome protein, alms1, in kidney ciliogenesis and cellular quiescence. [PDF]

PLoS Genetics, 2007
Premature truncation alleles in the ALMS1 gene are a frequent cause of human Alström syndrome. Alström syndrome is a rare disorder characterized by early obesity and sensory impairment, symptoms shared with other genetic diseases affecting proteins of ...
Guochun Li, Raquel Vega, Keats Nelms, Nicholas Gekakis, Christopher Goodnow, Peter McNamara, Hua Wu, Nancy A Hong, Richard Glynne   +8 more
doaj   +1 more source

Alstrom syndrome in four sibs from northern Jordan [PDF]

Annals of Saudi Medicine, 2006
Hamamy Hanan, Barham Muries, Alkhawaldeh Abd-ElKarim, Cockburn David, Snowden Helen, Ajlouni Kamel   +5 more
doaj   +3 more sources

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, Soo Heon Kwak, Shinae Kang, Hye Seung Jung, Young Min Cho, Seong Yeon Kim, Kyong Soo Park   +6 more
doaj   +1 more source

The efficacy and safety of setmelanotide in individuals with Bardet-Biedl syndrome or Alström syndrome: Phase 3 trial design

Contemporary Clinical Trials Communications, 2021
Background: A phase 2 trial has suggested that treatment with the melanocortin-4 receptor (MC4R) agonist setmelanotide is associated with a decrease in hunger and weight-related outcomes in participants with Bardet-Biedl syndrome (BBS) and Alström ...
Robert M. Haws, Gregory Gordon, Joan C. Han, Jack A. Yanovski, Guojun Yuan, Murray W. Stewart   +5 more
doaj   +1 more source