Results 61 to 70 of about 1,546 (135)

Diagnostic Yield of Whole Exome Sequencing in Pediatric Dilated Cardiomyopathy

Journal of Cardiovascular Development and Disease, 2017
Dilated cardiomyopathy (DCM) is a heritable, genetically heterogeneous disorder characterized by progressive heart failure. DCM typically remains clinically silent until adulthood, yet symptomatic disease can develop in childhood.
Pamela A. Long, Jared M. Evans, Timothy M. Olson   +2 more
doaj   +1 more source

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 16Â 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

Additional file 5: of Whole genome sequencing identifies a novel ALMS1 gene mutation in two Chinese siblings with AlstrĂśm syndrome

, 2017
Summary of InDels identification after polymorphism in the dbSNP and 1000 Genome Project were filtered. (DOCX 15Â 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

Additional file 2: of Whole genome sequencing identifies a novel ALMS1 gene mutation in two Chinese siblings with AlstrĂśm syndrome

, 2017
Summary of SNV identification in the family. (DOCX 16Â 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

Additional file 4: of Whole genome sequencing identifies a novel ALMS1 gene mutation in two Chinese siblings with AlstrĂśm syndrome

, 2017
Summary of SNV identification after polymorphism in the dbSNP and 1000 Genome Project were filtered. (DOCX 16Â 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

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

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

Additional file 1 of Whole-exome sequencing revealed a novel mutation of the ALMS1 gene in a Chinese family with Alström syndrome: a case report

Supplementary Material 1.
Hu, Ming, Chen, Shuang, Wu, Jinyuan, Wang, Rong   +3 more
openaire   +1 more source

Alms1 KO Rat: A New Model of Cardiometabolic Syndrome With Spontaneous Hypertension. [PDF]

Acta Physiol (Oxf)
Jaykumar AB, Monu SR, Xu J, Mendez M, Yang XP, Rhaleb NE, Ortiz PA.   +6 more
europepmc   +1 more source

Phosphoproteomic profiling highlights CDC42 and CDK2 as key players in the regulation of the TGF-β pathway in ALMS1 and BBS1 knockout models. [PDF]

Sci Rep
Bea-Mascato B, Giudice G, Pinheiro-de-Sousa I, Solarat C, Barbeito P, Petsalaki E, Valverde D.   +6 more
europepmc   +1 more source