Results 151 to 160 of about 1,999 (178)

Transcriptomic profiling of select genes associated with cervical cancer and its preneoplastic lesions in Nigerian patients: an in vivo and in silico study. [PDF]

BMC Cancer
Usin SG, Olajire GA, Olumese JO, Idenyi EO, Oluwafemi O, Oluwasola TA, Salami AA, Omotuyi OI, Ogun GO, Gbadegesin MA.   +9 more
europepmc   +1 more source

Population Genomic Analysis of ALMS1 in Humans Reveals a Surprisingly Complex Evolutionary History [PDF]

Molecular Biology and Evolution, 2009
Mutations in the human gene ALMS1 result in Alström Syndrome, which presents with early childhood obesity and insulin resistance leading to Type 2 diabetes. Previous genomewide scans for selection in the HapMap data based on linkage disequilibrium and population structure suggest that ALMS1 was subject to recent positive selection.
Laura B Scheinfeldt, Shameek Biswas, Jennifer Madeoy   +2 more
exaly   +3 more sources

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ALMS1

2018
Sarwar Zahid, Dana Schlegel, Mark E Pennesi   +2 more
exaly   +2 more sources

Spectrum ofALMS1variants and evaluation of genotype-phenotype correlations in Alström syndrome

Human Mutation, 2007
Alström syndrome is a monogenic recessive disorder featuring an array of clinical manifestations, with systemic fibrosis and multiple organ involvement, including retinal degeneration, hearing loss, childhood obesity, diabetes mellitus, dilated cardiomyopathy (DCM), urological dysfunction, and pulmonary, hepatic, and renal failure. We evaluated a large
MARSHALL JD, HINMAN EG, COLLIN GB, BECK S, CERQUEIRA R, MAFFEI, PIETRO, MILAN, GABRIELLA, ZHANG W, WILSON DI, HEARN T, TAVARES P, VETTOR, ROBERTO, VERONESE C, MARTIN M, SO WV, NISHINA PM, NAGGERT JK   +16 more
openaire   +4 more sources

A novel ALMS1 homozygous mutation in two Turkish brothers with Alström syndrome

Journal of Pediatric Endocrinology and Metabolism, 2016
AbstractAlström syndrome (AS) is an extremely rare, autosomal recessive disorder characterised by multi-organ features that typically manifest within the first two decades of life. AS is caused by mutations in the Alström syndrome 1 (In the current study, two brothers from a first-cousin consanguineous family presented with a complex phenotype and were
Caley, Laxer, Sofia A, Rahman, Maha, Sherif, Sophia, Tahir, Atilla, Cayir, Huseyin, Demirbilek, Khalid, Hussain   +6 more
openaire   +2 more sources

Identification of a Novel Mutation in ALMS1 in a Chinese Patient with Monogenic Diabetic Syndrome by Whole-Exome Sequencing

Nigerian Journal of Clinical Practice, 2022
Alstrom syndrome (AS) is one type of monogenic diabetic syndromes caused by mutation in the ALMS1. Due to rare prevalence and overlaps of clinical symptoms, monogenic diabetes is often misdiagnosed. Here, we report a Chinese diabetes patient with poor blood glucose control and insulin resistance.
Zhong, Ming, Huang, Ling-Ning, Zhang, Song-Jing, Yan, Sun-Jie   +3 more
openaire   +3 more sources