Results 51 to 60 of about 615 (141)
The FASEB Journal, Volume 40, Issue 14, 31 July 2026.The identification of a patient carrying a novel homozygous p.(Gln206Ter) POC5 variant revealed a metabolic phenotype associated with POC5 deficiency. POC5 deficiency disrupts centriolar architecture and ciliary organization, leading to impaired proliferation, premature cellular senescence, and reduced insulin signaling.
Valeria Pistorio +10 more
wiley +1 more source
Alstrom syndrome (OMIM 203800): a case report and literature review
Orphanet Journal of Rare Diseases, 2007 Background Alstrom syndrome (AS) is a rare autosomal recessive disease characterized by multiorgan dysfunction. The key features are childhood obesity, blindness due to congenital retinal dystrophy, and sensorineural hearing loss.
Hegele Robert A +6 more
doaj +1 more source
A child resides within a young adult: The first reported case of Alström syndrome in Bangladesh
Clinical Case Reports, 2022 A 32‐year‐old male case with short stature presented to us with audio‐visual impairment, obesity, impaired glucose tolerance, dyslipidemia, and hypogonadism. The single‐gene genetic analysis revealed an ALMS1 gene mutation.
Mushfiq Newaz Ahmed +6 more
doaj +1 more source
PM&R, Volume 18, Issue 4, Page 426-442, April 2026.Abstract Background Osteoporosis fractures pose a significant public health concern, leading to substantial morbidity and mortality rates. The emerging evidence on the potential link between gut microbiota, proteins, and osteoporosis fractures suggests a complex relationship that warrants further investigation.
Qiong Wang +6 more
wiley +1 more source
A very early diagnosis of Alstrӧm syndrome by next generation sequencing
BMC Medical Genetics, 2020 Background Alström syndrome is a rare recessively inherited disorder caused by variants in the ALMS1 gene. It is characterized by multiple organ dysfunction, including cone-rod retinal dystrophy, dilated cardiomyopathy, hearing loss, obesity, insulin ...
Leonardo Gatticchi +12 more
doaj +1 more source
DNA microarray signal intensities of ALMS1, ALMS1P, and ALMS1-IT1 specific probe sets.
, 2017 DNA microarray data from a panel of normal tissues, HL biopsies, micro-dissected HL cells, and HL cell lines [6,27–33] were analyzed for expression of ALMS1 (probe sets 214707_x_at, 214220_s_at, and 214221_at), ALMS1P (probe set 1552576_at), and ALMS1 ...
Martin S. Staege (281214) +2 more
core +1 more source
Case Reports in Ophthalmological Medicine, 2022 Bardet–Biedl syndrome is a rare autosomal recessive form of syndromic obesity which is characterized by retinal degeneration, obesity, polydactyly, cognitive impairment, and renal and urogenital anomalies.
Roghayeh Dehghan +3 more
doaj +1 more source
Liver Fibrosis and Steatosis in Alström Syndrome: A Genetic Model for Metabolic Syndrome
Diagnostics, 2021 Alström syndrome (ALMS) is an ultra-rare monogenic disease characterized by insulin resistance, multi-organ fibrosis, obesity, type 2 diabetes mellitus (T2DM), and hypertriglyceridemia with high and early incidence of non-alcoholic fatty liver disease ...
Silvia Bettini +13 more
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 +12 more
wiley +1 more source
Kidney Abnormalities in Alms1 Mutant Mice
, 2013 (A) H&E-stained kidney sections of a 6-mo-old Alms1L2131X/L2131X mouse showing dilated cortex tubules compared with an age-matched wild-type control. Lack of kidney cilia is observed in some tubules in the cortex of Alms1L2131X/L2131X kidney, whereas ...
Guochun Li (273973) +8 more
core +1 more source