Results 101 to 110 of about 1,791,159 (252)

Genetic Diversity, Adaptation, Wild Introgression, and Coat Color Mutation of Golden Yak

Animal Research and One Health, EarlyView.
Genetic diversity, adaptation, wild introgression, and coat color mutation of golden yak from two populations on the Qinghai‐Xizang Plateau. ABSTRACT The golden yak lives on the Qinghai‐Xizang Plateau with a golden coat and adapts to high altitudes and strong ultraviolet environment. The golden coat is a prominent phenotype in many domesticated species,
Huixuan Yan, Jialei Chen, Chuzhao Lei, Fengwei Zhang, Shunzhong He, Weiru Song, Hongyan Ma, Shuling Li, Guomei Li, Laba Yongcuo, Jianlin Han, Johannes A. Lenstra, Qiang Zhang, Rende Song, Basang Wangdui, Ningbo Chen   +15 more
wiley   +1 more source

Integrated Bayesian analysis of rare exonic variants to identify risk genes for schizophrenia and neurodevelopmental disorders

Genome Medicine, 2017
Integrating rare variation from trio family and case–control studies has successfully implicated specific genes contributing to risk of neurodevelopmental disorders (NDDs) including autism spectrum disorders (ASD), intellectual disability (ID ...
Hoang T. Nguyen, Julien Bryois, April Kim, Amanda Dobbyn, L. Huckins, A. B. Muñoz-Manchado, D. Ruderfer, G. Genovese, M. Fromer, Xinyi Xu, D. Pinto, S. Linnarsson, M. Verhage, A. Smit, J. Hjerling-Leffler, J. Buxbaum, C. Hultman, P. Sklar, S. Purcell, K. Lage, Xin He, P. Sullivan, E. Stahl   +22 more
semanticscholar   +1 more source

A Variant Branching Pattern of the Aortic Arch: A Case Report. [PDF]

, 2011
Variant aortic arch branching pattern may occur with different embryological mechanisms. We report on a variant aortic arch branching in a 41-year old Tanzanian male cadaver during dissection practice.
Rambau, Peter, Japhet Gilyoma, Mange Manyama, Peter Rambau, Manyama, Mange, Rambau Peter, Manyama Mange, Gilyoma Japhet, Mahalu William, Mahalu, William, Gilyoma, Japhet, William Mahalu   +11 more
core   +2 more sources

Sheep Horn Development Revealed by Multi‐Tissue and Cross‐Species Transcriptomic Analysis

Animal Research and One Health, EarlyView.
Multi‐tissue and cross‐species transcriptomics with allele‐specific expression show sheep horns are a composite organ integrating epidermal and osteogenic programs. Conserved horn gene modules and cis‐regulatory variation fine‐tune expression networks underlying horn development and size (small scurs vs. large spiral horns).
Hao Li, Yuchen He, Yangshuo Hu, Naominggaowa, Huaiqiang Yang, Zhu Meng, Fei Liu, Shiwen Zhang, Yi Jin, Mingxing Chu, Zhangyuan Pan   +10 more
wiley   +1 more source

SINE Insertion in LAMA3 in Dogs With Junctional Epidermolysis Bullosa. [PDF]

Anim Genet
ABSTRACT Junctional epidermolysis bullosa (JEB) is a hereditary skin disorder caused by defects in proteins responsible for dermal‐epidermal adhesion. We investigated the genetic cause of JEB in three related mixed‐breed puppies presenting with congenital skin blistering and ulceration. Whole‐genome sequencing of one affected dog followed by comparison
Kiener S, Kaufmann R, Brenner O, Jagannathan V, Leeb T.   +4 more
europepmc   +2 more sources

Genic and exonic CNVs identified.

, 2019
Genic and exonic CNVs identified.
Jong Rak Choi (586230), Soo-Jeong Kim (313402), Yoo Hong Min (519765), Jieun Jang (5245817), June-Won Cheong (519759), Borahm Kim (6429224), Hyeonah Lee (6429227), Seung-Tae Lee (834820), Chuhl Joo Lyu (2609773)   +8 more
core   +1 more source

Peripheral Blood DNA Methylation Changes Precede Lymphoma Diagnosis in Primary Sjögren's Disease

Arthritis &Rheumatology, EarlyView.
Objective Primary Sjögren's disease (SjD) is a systemic autoimmune disease associated with an increased risk of lymphoma. The molecular mechanisms underlying lymphomagenesis remain poorly understood, and sensitive biomarkers for early identification of patients at high risk of developing lymphoma are lacking.
Hanna Lidberg, Cecilia Fugmann, Juliana Imgenberg‐Kreuz   +2 more
wiley   +1 more source

Exonic mutations and exon skipping: lessons learned from DFNA5

Human Mutation, 2018
Dysregulation of splicing is a common factor underlying many inherited diseases including deafness. For one deafness‐associated gene, DFNA5, perturbation of exon 8 splicing results in a constitutively active truncated protein.
Kevin T. A. Booth, Hela Azaiez, K. Kahrizi, Donghong Wang, Yuzhou Zhang, K. Frees, C. Nishimura, H. Najmabadi, Richard J. H. Smith   +8 more
semanticscholar   +1 more source

Increased Insulin Action, Glucose Metabolism and Muscle Function in Supervillin‐Knockout and Supervillin‐Mutant Mice

Cytoskeleton, EarlyView.
ABSTRACT We here describe mouse models with complementary homozygous Svil mutations. In skeletal muscle, Svil‐Mut mice express the Svil‐encoded N‐terminus fused to the βgal‐neo gene‐trap tag and lack the highly conserved archvillin C‐terminus; Svil‐KO mice lack expression of all known Svil‐encoded proteins; and Svil‐LoxP mice contain loxP sites for ...
Tara C. Smith, Lauren A. Tauer, Randall H. Friedline, Xiaodi Hu, Duy Tran, Yangyi E. Luo, Nacima Hadjout‐Rabi, Elisabeth R. Barton, Jason K. Kim, Elizabeth J. Luna   +9 more
wiley   +1 more source

SYNE1 Exonic Variant rs9479297 Contributes to Concurrent Hepatocellular and Transitional Cell Carcinoma Double Primary Cancer. [PDF]

Biomedicines, 2021
Chu YD, Kee KM, Lin WR, Lai MW, Lu SN, Chung WH, Pang ST, Yeh CT.   +7 more
europepmc   +1 more source