Results 41 to 50 of about 2,862 (212)
Truncation of POC1A associated with short stature and extreme insulin resistance [PDF]
, 2015 We describe a female proband with primordial dwarfism, skeletal dysplasia, facial dysmorphism, extreme dyslipidaemic insulin resistance and fatty liver associated with a novel homozygous frameshift mutation in POC1A, predicted to affect two of the three ...
Adams, Claire +29 more
core +8 more sources
Contemporary Clinical Trials Communications, 2021 Background: A phase 2 trial has suggested that treatment with the melanocortin-4 receptor (MC4R) agonist setmelanotide is associated with a decrease in hunger and weight-related outcomes in participants with Bardet-Biedl syndrome (BBS) and Alström ...
Robert M. Haws +5 more
doaj +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
Six-year mortality in a street-recruited cohort of homeless youth in San Francisco, California. [PDF]
, 2016 Objectives. The mortality rate of a street-recruited homeless youth cohort in the United States has not yet been reported. We examined the six-year mortality rate for a cohort of street youth recruited from San Francisco street venues in 2004.
Auerswald, Colette +2 more
core +3 more sources
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
Evaluation of Genetic Causes of Cardiomyopathy in Childhood [PDF]
, 2015 Cardiomyopathy frequently has a genetic basis. In adults, mutations in genes encoding components of the sarcomere, cytoskeleton, or desmosome are frequent genetic causes of cardiomyopathy.
Ware, Stephanie M.
core +1 more source
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
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.
F, Koray +6 more
openaire +3 more sources
Mutations in CEP78 Cause Cone-Rod Dystrophy and Hearing Loss Associated with Primary-Cilia Defects. [PDF]
, 2016 Cone-rod degeneration (CRD) belongs to the disease spectrum of retinal degenerations, a group of hereditary disorders characterized by an extreme clinical and genetic heterogeneity.
Andréasson, S. +26 more
core +2 more sources