Results 101 to 110 of about 1,783 (168)

Relative expression level of ALMS1 and ALMS1-IT1 related transcripts in HL cell lines.

, 2017
Presented are results from qRT-PCR analyses with the indicated primer combinations. The following primer pairs were used: A) primer combination no. 36 from Table 1.
Martin S. Staege (281214), Ines Volkmer (526575), Katarina Braune (3704791)   +2 more
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Additional file 3: of Whole genome sequencing identifies a novel ALMS1 gene mutation in two Chinese siblings with AlstrĂśm syndrome

, 2017
Summary of InDels identification in the family. (DOCX 16 kb)
Yang, Lin, Zixiu Li, Mei, Mei, Xiaomei Fan, Guodong Zhan, Huijun Wang, Guoying Huang, Mingbang Wang, Weidong Tian, Wenhao Zhou   +9 more
openaire   +1 more source

Mutation of ALMS1, a large gene with a tandem repeat encoding 47 amino acids, causes Alstrom syndrome

Alstrom syndrome (OMIM 203800) is an autosomal recessive disease, characterized by cone-rod retinal dystrophy, cardiomyopathy and type 2 diabetes mellitus, that has been mapped to chromosome 2p13 (refs 1-5).
Walker M; Hanley NA; Renforth GL; Wilson DI; Piper K; Connolly V; Hearn T; Spalluto C; Brickwood S; White C; Taylor JFN; Russell-Eggitt I; Bonneau D
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Mutations in ALMS1 cause obesity, type 2 diabetes and neurosensory degeneration in Alstrom syndrome.

, 2002
Alstrom syndrome is a homogeneous autosomal recessive disorder that is characterized by childhood obesity associated with hyperinsulinemia, chronic hyperglycemia and neurosensory deficits.
Maffei, P, Martin, M, Russell, Eggitt I, Naggert, J K, So, W V, Boerkoel, C F, Sicolo, N, Marshall, J D, Ikeda, A, Collin, G B, Beck, S, Nishina, P M   +11 more
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Spectrum of ALMS1 variants and evaluation of genotype-phenotype correlations in Alström syndrome

, 2007
Alstrom 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 ...
Martin, Mitchell, Hinman, Elizabeth G., Wilson, David I., Marshall, Jan D., Hearn, Tom, Beck, Sebastian, Veronese, Caterina, Maffei, Pietro, Naggert, Jürgen K., Zhang, Weidong, Tavares, Purificação, Collin, Gayle B., Nishina, Patsy M., Cerqueira, Rita, So, W. Venus, Milan, Gabriella, Vettor, Roberto   +16 more
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Testing for Endothelial Dysfunction in Children with Rare Genetic Variants of Obesity

Endocrines
Background: Endothelial dysfunction (ED), an early indicator of atherosclerosis, is a well-established predictor of cardiovascular disease. This study investigates ED in children with rare genetic variants linked to obesity and explores the prevalence of
Ilham Farhat, Vivian L. Chin
doaj   +1 more source

Subcellular localization of ALMS1 supports involvement of centrosome and basal body dysfunction in the pathogenesis of obesity, insulin resistance, and type 2 diabetes

, 2005
Alström syndrome is a rare autosomal recessive disorder caused by mutations in a novel gene of unknown function, ALMS1. Central features of Alström syndrome include obesity, insulin resistance, and type 2 diabetes, and therefore investigating ALMS1 ...
Hanley, Neil A., Phillips, Victoria J., Phillips, Victoria, Renforth, Glenn L., Wilson, David I., Hearn, Tom, Spalluto, Cosma, Copin, Nane   +7 more
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Common variations in the ALMS1 gene do not contribute to susceptibility to type 2 diabetes in a large white UK population

Aims/hypothesis: Alström syndrome is a rare monogenic disorder characterised by retinal dystrophy, deafness and obesity. Patients also have insulin resistance, central obesity and dyslipidaemia, thus showing similarities with type 2 diabetes.
McCarthy MI, Minton JAL, Walker M, Weedon MN, Hitman GA, Hattersley AT, Patel S, Barrett TG, Ricketts C, Frayling TM   +9 more
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CD1d affects the proliferation, migration, and apoptosis of human papillary thyroid carcinoma TPC-1 cells via regulating MAPK/NF-κB signaling pathway

Open Medicine
The study aimed to investigate the effect of CD1d down-regulation on the proliferation, migration, and apoptosis of papillary thyroid carcinoma cells and explore the underlying mechanism.
Liu Qingyuan, Zhai Tong, Ma Lei, Liu Qilun   +3 more
doaj   +1 more source

Deletion of ALMS1 (alstrom syndrome 1) enhances salt-sensitive hypertension, and induces insulin resistance and obesity in rats

, 2017
The Na/K/2Cl cotransporter NKCC2 mediates NaCl absorption by the Thick Ascending Limb (TAL). Increased NKCC2 activity and apical trafficking are associated with salt sensitive hypertension in rodents and humans.
Ortiz, Pablo A, Jaykumar, Ankita B, Caceres, Paulo S, Beierwaltes, William H, Henson, Emily L   +4 more
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