Results 31 to 40 of about 1,069,421 (301)

Novel +90G>A Intronic Polymorphism of CYP2D6 [PDF]

Cell Journal, 2015
Objective: CYP2D6, an enzyme, metabolizes a large number of commonly prescribed drugs. Variations in CYP2D6 gene encoding this enzyme have been associated with individual differences in drug metabolism rates.
Monir Modaresi-nejad, Marzieh Shiva, Parvaneh Afsharian   +2 more
doaj  

A novel compound heterozygous variant in ALPK3 induced hypertrophic cardiomyopathy: a case report

Frontiers in Cardiovascular Medicine, 2023
BackgroundMalignant hypertrophic cardiomyopathy (HCM) phenotypes have potential risks of severe heart failure, fatal arrhythmia, and sudden cardiac death. Therefore, it is critical to predict the clinical outcomes of these patients.
Tiange Li, Tiange Li, Yuxi Jin, Rui Liu, Rui Liu, Yimin Hua, Kaiyu Zhou, Shuhua Luo, Yifei Li, Donghui Zhang   +9 more
doaj   +1 more source

Canine NAPEPLD-associated models of human myelin disorders [PDF]

, 2018
Canine leukoencephalomyelopathy (LEMP) is a juvenile-onset neurodegenerative disorder of the CNS white matter currently described in Rottweiler and Leonberger dogs. Genome-wide association study (GWAS) allowed us to map LEMP in a Leonberger cohort to dog
Bannasch, D L, Becker, D, Bellekom, S R, Cassidy, J P, Drogemuller, C, Drogemuller, M, Ekenstedt, K J, Fischer, A, Flegel, T, Furrow, E, Henke, D, Jagannathan, V, Kelly, P A, Leegwater, P A J, Letko, A, Lucot, K, Mandigers, P J J, Martineau, H, Matiasek, K, Mickelson, J R, Minor, K M, Muir, C F, Oevermann, A, Patterson, E E, Platt, S R, Priestnall, S L, Putschbach, K, Shelton, G D, Stassen, QEM   +28 more
core   +7 more sources

Expanding the mutational and clinical spectrum of Chinese intellectual disability patients with two novel CTCF variants

Frontiers in Pediatrics, 2023
CCCTC-Binding Factor (CTCF) is a protein-coding gene involved in transcriptional regulation, insulator activity, and regulation of chromatin structure, and is closely associated with intellectual developmental disorders.
Bo Tan, Sihan Liu, Xiaoshu Feng, Xin Pan, Guanhua Qian, Li Liu, Xu Zhang, Hong Yao, Xiaojing Dong   +8 more
doaj   +1 more source

A Common Variant in CLDN14 is Associated with Primary Biliary Cirrhosis and Bone Mineral Density. [PDF]

, 2016
Primary biliary cirrhosis (PBC), a chronic autoimmune liver disease, has been associated with increased incidence of osteoporosis. Intriguingly, two PBC susceptibility loci identified through genome-wide association studies are also involved in bone ...
Bian, Zhaolian, Chen, Haoyan, Gershwin, M Eric, Jiang, Xiang, Li, Enling, Li, Zhiqiang, Lian, Min, Liao, Wilson, Ma, Xiong, Miao, Qi, Seldin, Michael F, Shi, Yongyong, Tang, Ruqi, Wang, Qixia, Wang, Zhaoyue, Wei, Yiran, Yang, Fan, Yang, Yue, Zhang, Haiyan   +18 more
core   +2 more sources

Fast and scalable inference of multi-sample cancer lineages. [PDF]

, 2014
Somatic variants can be used as lineage markers for the phylogenetic reconstruction of cancer evolution. Since somatic phylogenetics is complicated by sample heterogeneity, novel specialized tree-building methods are required for cancer phylogeny ...
Batzoglou, Serafim, Hajirasouliha, Iman, Kashef-Haghighi, Dorna, Popic, Victoria, Salari, Raheleh, West, Robert B   +5 more
core   +5 more sources

Novel RNA variants in colorectal cancers

Oncotarget, 2015
With an annual estimated incidence of 1.4 million, and a five-year survival rate of 60%, colorectal cancer (CRC) is a major clinical burden. To identify novel RNA variants in CRC, we analyzed exon-level microarray expression data from a cohort of 202 CRCs.
Andreas M, Hoff, Bjarne, Johannessen, Sharmini, Alagaratnam, Sen, Zhao, Torfinn, Nome, Marthe, Løvf, Anne C, Bakken, Merete, Hektoen, Anita, Sveen, Ragnhild A, Lothe, Rolf I, Skotheim   +10 more
openaire   +3 more sources

Case Report: Successful Management of a 29-Day-Old Infant With Severe Hyperlipidemia From a Novel Homozygous Variant of GPIHBP1 Gene

Frontiers in Pediatrics, 2022
BackgroundSevere hyperlipidemia is characterized by markedly elevated blood triglyceride levels and severe early-onset cardiovascular diseases, pancreatitis, pancreatic necrosis or persistent multiple organ failure if left untreated.
Shu Liu, Zhiqing Wang, Xianhua Zheng, Ye Zhang, Sisi Wei, Haimei OuYang, Jinqun Liang, Nuan Chen, Weihong Zeng, Jianhui Jiang   +9 more
doaj   +1 more source

Novel N-Terminal Variant of Human VDR [PDF]

Molecular Endocrinology, 2001
The importance of N-terminal regions of nuclear hormone receptors in transcriptional regulation is increasingly recognized. As variant VDR gene transcripts indicated possible N-terminally extended receptors, we investigated their natural occurrence, transactivation capacity, and subcellular localization. A novel 54-kDa VDRB1 protein, in addition to the
Sunn, K. L., Cock, T. A., Crofts, L. A., Eisman, J. A., Gardiner, E. M.   +4 more
openaire   +3 more sources

Detection of novel Fabry disease‐associated pathogenic variants in Japanese patients by newborn and high‐risk screening

Molecular Genetics & Genomic Medicine, 2020
Background In Japan, newborn and high‐risk screening for Fabry disease (FD), an inherited X‐linked disorder caused by GLA mutations, using dried blood spots was initiated in 2006. In newborn screening, 599,711 newborns were screened by December 2018, and
Takaaki Sawada, Jun Kido, Keishin Sugawara, Shirou Matsumoto, Fumio Takada, Kazuya Tsuboi, Akira Ohtake, Fumio Endo, Kimitoshi Nakamura   +8 more
doaj   +1 more source