Results 61 to 70 of about 1,912 (196)

Novel Unreported Variants in Alstrom Syndrome 1 Gene Causing Alstrom Syndrome

Journal of Ophthalmological Society of West Bengal
Abstract We report a case of Alstrom Syndrome (ALMS) due to mutation in ALMS1 and EYS gene caused by an unreported variant. The case revealed a heterozygous variant c.3298del on exon8 and c.11250del on exon16 of the ALMS1 gene. It is a rare syndrome that has a variable presentation, and discovering new variants can help in better ...
Sarang Nikhil Gokhale, Puja Chowdhury, Bhagyashree Verma, Aarzoo Juneja, Ahana Sen, Rupak Roy   +5 more
openaire   +1 more source

Setmelanotide in Bardet‐Biedl Syndrome: A 52‐Week Comparison of Phase 3 Trial Participants With a Matched Registry Cohort

Obesity, Volume 34, Issue 3, Page 579-587, March 2026.
ABSTRACT Objective This analysis aimed to assess the efficacy of setmelanotide over 52 weeks in patients with Bardet‐Biedl syndrome (BBS) compared with an external natural history cohort from the international Clinical Registry Investigating BBS (CRIBBS).
Jesús Argente, Andrea M. Haqq, Jan Luca Schorfheide, Nicolas Touchot, Caroline Huber, Urs Wiedemann, Jeremy Pomeroy, on behalf of the Phase 3 BBS Trial Investigators, Wendy Chung, Karine Clément, Hélène Dollfus, Elizabeth Forsythe, Robert M. Haws, Gabriel Á. Martos‐Moreno, Christine Poitou, Jack A. Yanovski   +15 more
wiley   +1 more source

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   +1 more source

Alms1 KO Rat: A New Model of Cardiometabolic Syndrome With Spontaneous Hypertension

Acta Physiologica, Volume 242, Issue 3, March 2026.
ABSTRACT Alström syndrome 1 (ALMS1) is a protein linked to Alström syndrome, a rare genetic disorder characterized by obesity, insulin resistance, hyperinsulinemia, and hypertension. Genetic studies have further associated Alms1 with hypertension in human populations. However, the precise mechanisms by which ALMS1 regulates metabolic and cardiovascular
Ankita B. Jaykumar, Sumit R. Monu, Jiang Xu, Mariela Mendez, Xiao‐Ping Yang, Nour‐Eddine Rhaleb, Pablo A. Ortiz   +6 more
wiley   +1 more source

Early diagnosis of Bardet-Biedl syndrome associated with obesity

Ожирение и метаболизм, 2008
One of the urgent problems of modern health care is the increase in the prevalence of obesity among children and adolescents. Late diagnosis and delayed initiation of treatment lead to serious complications such as hypertension, type 2 diabetes mellitus.

doaj   +1 more source

Targeted Next‐Generation Sequencing of the Leptin‐Melanocortin Pathway in Severe Obesity

Obesity, Volume 34, Issue 2, Page 499-511, February 2026.
ABSTRACT Objective Pathogenic variants in five established leptin‐melanocortin pathway genes (LEP, LEPR, MC4R, PCSK1, POMC) are associated with severe early‐onset obesity and are targets for emerging treatments. However, these variants are rare in these patients, suggesting the involvement of additional genes interacting with this pathway. Methods Next‐
Nathan Faccioli, Chrisitne Poitou, Mathieu Georget, Françoise Bertin, Ahlam Azar‐Kolakez, Claire Carette, Pauline Faucher, Blandine Gatta‐Cherifi, Julie Gonneau‐Lejeune, Agnès Linglart, Karine Clément, Johanne Le Beyec‐Le Bihan, Béatrice Dubern   +12 more
wiley   +1 more source

Cardiac manifestations of Alstrom syndrome: echocardiographic findings. [PDF]

, 2007
BACKGROUND: Alstrom syndrome is an extremely rare autosomal recessive genetic disorder characterized by infantile-onset cardiomyopathy (CMP), blindness, hearing impairment/loss, and obesity.
Makaryus, A N, Mangion, J R, Marshall, J D, Zubrow, M E, Gillam, L D   +4 more
core  

Brain involvement in Alström syndrome

Orphanet Journal of Rare Diseases, 2013
Background Alström Syndrome (AS) is a rare ciliopathy characterized by cone–rod retinal dystrophy, sensorineural hearing loss, obesity, type 2 diabetes mellitus and cardiomyopathy.
Citton Valentina, Favaro Angela, Bettini Vera, Gabrieli Joseph, Milan Gabriella, Greggio Nella Augusta, Marshall Jan D, Naggert Jürgen K, Manara Renzo, Maffei Pietro   +9 more
doaj   +1 more source

Consensus clinical management guidelines for Alström syndrome

Orphanet Journal of Rare Diseases, 2020
Alström Syndrome (ALMS) is an ultra-rare multisystem genetic disorder caused by autosomal recessive variants in the ALMS1 gene, which is located on chromosome 2p13.
Natascia Tahani, Pietro Maffei, Hélène Dollfus, Richard Paisey, Diana Valverde, Gabriella Milan, Joan C. Han, Francesca Favaretto, Shyam C. Madathil, Charlotte Dawson, Matthew J. Armstrong, Adrian T. Warfield, Selma Düzenli, Clair A. Francomano, Meral Gunay-Aygun, Francesca Dassie, Vincent Marion, Marina Valenti, Kerry Leeson-Beevers, Ann Chivers, Richard Steeds, Timothy Barrett, Tarekegn Geberhiwot   +22 more
doaj   +1 more source

The Alström syndrome protein, ALMS1, interacts with α-actinin and components of the endosome recycling pathway. [PDF]

PLoS ONE, 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,
Gayle B Collin, Jan D Marshall, Benjamin L King, Gabriella Milan, Pietro Maffei, Daniel J Jagger, Jürgen K Naggert   +6 more
doaj   +1 more source