Results 61 to 70 of about 2,469,352 (177)

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

Alström syndrome: A rare cause of dilated cardiomyopathy in five Chinese children.

Gene
BACKGROUD The ALMS1 gene is predominantly localized to cilia, particularly in the photoreceptor cells of the retina, auditory neurons, kidneys, and other ciliated structures.
Yuying Qi, Jie Lu, Ningning Sun, Ziwei Wang, Yuqi Wang, Jueru Zhou, Jie Yin, Chunli Wang, Shiwei Yang   +8 more
semanticscholar   +1 more source

Glucagon‐like peptide‐1 analogues in monogenic syndromic obesity: Real‐world data from a large cohort of Alström syndrome patients

Diabetes, obesity and metabolism, 2023
To examine the real‐world efficacy of glucagon‐like peptide‐1 receptor agonists (GLP‐1 RAs) in monogenic obesity in patients with Alström syndrome (ALMS).
Sadaf Ali, S. Baig, S. Wanninayake, Gabriela da Silva Xavier, Charlotte Dawson, R. Paisey, T. Geberhiwot   +6 more
semanticscholar   +1 more source

Wolfram to Alstrom: Analysis of a Diagnostic Error

Online Journal of Health & Allied Sciences, 2021
Wolfram syndrome (DIDMOAD) and Alstrom syndrome are two rare, clinically similar diseases inherited in an autosomal recessive pattern. We report the case of a 19 year old male who presented with left upper abdominal mass and two episodes of high coloured
Annapoorna Chakrabarty, Shipra Rai, Kavitha Saravu   +2 more
doaj  

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

European Society for Pediatric Gastroenterology, Hepatology and Nutrition (ESPGHAN) position paper on screening, diagnosis and investigation of paediatric metabolic dysfunction‐associated steatotic liver disease

Journal of Pediatric Gastroenterology and Nutrition, EarlyView.
Abstract Metabolic dysfunction‐associated steatotic liver disease (MASLD) is the most common reason for elevated liver enzymes in children in Europe, affecting more than 5% of all children. Since the last iteration of this position paper, there have been substantial advances in our understanding of the disease.
Jake P. Mann, Sander Lefere, Maarten Buytaert, Anna Alisi, Cigdem Arikan, Jernej Brecelj, Rachel M. Brown, Irene Degrassi, Giulia Fiore, Emer Fitzpatrick, Sven Francque, Christian A. Hudert, Wojciech Janczyk, Lauren Johansen, Bart G. Koot, Anastasia Konidari, Eberhard Lurz, Claudia Mandato, Maria Mercadal‐Hally, Hadar Moran‐Lev, Antonella Mosca, Giusy Ranucci, Maria Rogalidou, Penelope C. Rose, Piotr Socha, Pietro Vajro, Elvira Verduci, Anita C. E. Vreugdenhil, Natalia Zavhorodnia, Aglaia Zellos, Ruth De Bruyne   +30 more
wiley   +1 more source

Identification of a Rare Exon 19 Skipping Mutation in ALMS1 Gene in Alström Syndrome Patients From Two Unrelated Saudi Families

Frontiers in Pediatrics, 2021
Background: Alström syndrome (AS) is a very rare childhood disorder characterized by cardiomyopathy, progressive hearing loss and blindness. Inherited genetic variants of ALMS1 gene are the known molecular cause of this disease.
Omar I. Saadah, Omar I. Saadah, Babajan Banaganapalli, Babajan Banaganapalli, Naglaa M. Kamal, Naglaa M. Kamal, Ahmed N. Sahly, Ahmed N. Sahly, Hadeel A. Alsufyani, Arif Mohammed, Aftab Ahmad, Khalidah Khalid Nasser, Khalidah Khalid Nasser, Jumana Y. Al-Aama, Jumana Y. Al-Aama, Noor Ahmad Shaik, Noor Ahmad Shaik, Ramu Elango, Ramu Elango   +18 more
doaj   +1 more source

Monogenic and syndromic obesity in children: Clinical recognition, genetics, and precision management

Pediatric Investigation, EarlyView.
Monogenic and syndromic obesity in children often arises from defects in the leptin–melanocortin pathway. Understanding these rare genetic causes not only clarifies mechanisms of appetite regulation but also enables precision therapies, offering hope beyond lifestyle interventions.
Hadel Khalil, Eugene Feigin, Hussein Zaitoon   +2 more
wiley   +1 more source

A Rare Syndromic Report of a Young Patient with Type 2 Diabetes Mellitus: Alstrom Syndrome

Case Reports in Clinical Practice
Alström syndrome is a rare multi-system congenital disorder with varied phenotypic presentations, including obesity, early-onset blindness, hearing loss, and various cardiac and renal manifestations.
Apoorva Suran, Jaideep Khare
doaj   +1 more source