Results 61 to 70 of about 1,144,628 (153)
Full-field electroretinography and marked variability in clinical phenotype of Alström syndrome.
, 2008 OBJECTIVES: To characterize the clinical phenotype and to study the course of disease in patients with Alström syndrome, with an emphasis on retinal function assessed with full-field electroretinography (ERG). METHODS: Three age- and sex-matched patients
Naggert, Jürgen K +20 more
core +1 more source
Journal of Cellular and Molecular Medicine, Volume 30, Issue 8, April 2026.ABSTRACT Atherosclerosis is a major cause of mortality due to chronic and progressive low‐grade inflammation and fibroproliferative remodelling of the intima of arteries. Comprehensive understanding of the interplay between plaque biology and the mechanisms underlying plaque vulnerability and rupture is essential.
Alaa G. Alahmadi +6 more
wiley +1 more source
, 2008 OBJECTIVE: Alström syndrome, with type 2 diabetes, and blindness could confer a high risk of foot ulceration. Clinical testing for neuropathy in Alström syndrome and matched young-onset type 2 diabetic subjects was therefore undertaken.
Shield, JPH +20 more
core +1 more source
MORFAN syndrome: A rarity but a reality!
Indian Journal of Dermatology, 2019 Acanthosis nigricans (AN) describes clinically hyperpigmented skin, which most commonly affects the flexural areas such as axilla, groin and neck.
Gourab Roy, Sumit Sen, Shreya Poddar
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 +22 more
doaj +1 more source
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 +15 more
wiley +1 more source
Five novel ALMS1 gene mutations in six patients with Alström syndrome
, 2018 Background: Alström syndrome is a rare autosomal recessive inherited disorder caused by mutations in the ALMS1 gene. Methods: We describe the clinical and five novel ...
Aylin Ardagil +13 more
core +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 +6 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 +6 more
wiley +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 +12 more
wiley +1 more source