Alstrom Syndrome

Alstrom syndrome is a rare disorder characterized by early obesity, loss of central vision, diabetes mellitus, hearing loss, and short stature. Here is the latest research.

September 10, 2020
Open Access

Reduction in MicroRNA-4488 Expression Induces NFκB Translocation in Venous Endothelial Cells Under Arterial Flow

Cardiovascular Drugs and Therapy
Shao-Yu FangChia-Ching Wu
August 29, 2020

Molecular and phenotypic investigation of a New Zealand cohort of childhood-onset retinal dystrophy

American Journal of Medical Genetics. Part C, Seminars in Medical Genetics
Sarah HullAndrea L Vincent
October 1, 2019
Open Access

Screening for ocular involvement in deaf children

The Pan African Medical Journal
Belghmaidi SarahMoutaouakil Abdeljalil
December 8, 2019
Case Report
Open Access

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

BMC Ophthalmology
Maria Fedorovna ShuryginaMark E. Pennesi
December 29, 2020
Case Report
Open Access

A rare case of pediatric cardiomyopathy: Alström syndrome identified by gene panel analysis

Clinical Case Reports
Valentina SpinelliSilvia Favilli
November 26, 2019
Open Access

Clinical characteristics of individual organ system disease in non-motile ciliopathies

Translational Science of Rare Diseases
Angela Grochowsky, Meral Gunay-Aygun
January 8, 2021

Neurocognitive assessment and DNA sequencing expand the phenotype and genotype spectrum of Alström syndrome

American Journal of Medical Genetics. Part a
Francesca DassiePietro Maffei
December 27, 2019
Open Access

MetAP2 inhibition reduces food intake and body weight in a ciliopathy mouse model of obesity

JCI Insight
Tana S PottorfPamela V Tran
November 13, 2020
Open Access

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

BioRxiv : the Preprint Server for Biology
L. Parkinson, Tamara M Stawicki
January 22, 2021
Comment / Editorial
Open Access

Adipose Tissue Malfunction Drives Metabolic Dysfunction in Alström Syndrome.

Sona Kang
November 17, 2020

Very high bone mineral density in a monogenic form of obesity-associated insulin resistance

Natascia TahaniTarekegn Geberhiwot
September 23, 2020
Open Access

Consensus clinical management guidelines for Alström syndrome

Orphanet Journal of Rare Diseases
Natascia TahaniTarekegn Geberhiwot
April 12, 2020
Open Access

Ciliary Genes in Renal Cystic Diseases

Anna Adamiok-Ostrowska, Agnieszka Piekiełko-Witkowska
August 1, 2020
Open Access

Characterization of an Artificial Liver Support System-Related Vasovagal Reaction

BioMed Research International
Shanshan MaLanjuan Li

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