Results 51 to 60 of about 2,469,352 (177)
The Lancet Diabetes and Endocrinology, 2022 SUMMARY Background: Impaired cilial signaling in the melanocortin-4 receptor (MC4R) pathway may contribute to obesity in Bardet-Biedl syndrome (BBS) or Alström syndrome, rare genetic diseases associated with hyperphagia and early-onset, severe obesity ...
A. Haqq +11 more
semanticscholar +1 more source
alms1 mutant zebrafish do not show hair cell phenotypes seen in other cilia mutants.
PLoS ONE, 2021 Multiple cilia-associated genes have been shown to affect hair cells in zebrafish (Danio rerio), including the human deafness gene dcdc2, the radial spoke gene rsph9, and multiple intraflagellar transport (IFT) and transition zone genes.
Lauren Parkinson, Tamara M Stawicki
doaj +1 more source
Alström Syndrome with Acute Pancreatitis: A Case Report
Kaohsiung Journal of Medical Sciences, 2003 We report the case of a 21-year-old female with Alström syndrome who also suffered from acute pancreatitis of obscure manifestation. The patient had underlying cone-rod dystrophy of the retinas, nystagmus, obesity, progressive sensorineural hearing ...
Wen-Chih Wu +9 more
doaj +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
Alstrom syndrome: A case report.
Journal of Oral Science, 2001 Alstrom syndrome is a rare disorder characterized by early obesity, loss of central vision, diabetes mellitus, hearing loss and short stature. Previous studies, have reported no information regarding oral findings. This article describes oral findings in two cases of Alstrom syndrome.
Koray, Fatma +6 more
openaire +3 more sources
GLUT4 defects in adipose tissue are early signs of metabolic alterations in Alms1GT/GT, a mouse model for obesity and insulin resistance. [PDF]
PLoS ONE, 2014 Dysregulation of signaling pathways in adipose tissue leading to insulin resistance can contribute to the development of obesity-related metabolic disorders.
Francesca Favaretto +7 more
doaj +1 more source
The role of an ophthalmologist in the Alström syndrome diagnosis [PDF]
Vojnosanitetski Pregled, 2019 Introduction. The Alström syndrome (AS) is an extremely rare autosomal recessive genetic disorder, affecting fewer than 1: 1,000,000 people globally. It is a single gene disorder due to the mutation of ALMS1 on chromosome 2 (2p13).
Karadžić Jelena +3 more
doaj +1 more source
, 2023 Alström disease is a condition of autosomal recessive trait disorders that are characterized. At the same time, cone-rod spinal muscular atrophy, hearing impairment, adolescent upper abdominal overweight, insulin sensitivity but also insulin production, insulin-dependent, hypercholesterolemia, present approximately through sexual maturity, myocardial ...
openaire +1 more source
EBioMedicine, 2021 Background: Ciliary dysfunction underlies a range of genetic disorders collectively termed ciliopathies, for which there are no treatments available. Bardet-Biedl syndrome (BBS) is characterised by multisystemic involvement, including rod-cone dystrophy ...
Jonathan Eintracht +3 more
doaj +1 more source
Alstrom Syndrome with a Mutation in Exon8 (C.4746C > A) of Alstrom Syndrome Protein 1 Gene: The First Case Report and Literature Review [PDF]
Journal of Diabetes and Obesity, 2017 exaly +2 more sources