Results 261 to 270 of about 287,824 (375)

Should ITSN1 be considered as a Mendelian Parkinson's disease gene? Description of three novel families. [PDF]

NPJ Parkinsons Dis
Cogan G, Tesson C, Welment L, Clot F, LeGuern E, Lanore A, Dürr A, Cormier-Dequaire F, Debilly B, Planes M, Mangone G, Lesage S, Brice A.   +12 more
europepmc   +1 more source

The use of genomic coancestry matrices in the optimization of contributions for maintaining diversity at specific regions of the genome [PDF]

, 2014
Fernandez, Jesus, Gómez-Romano, Fernando, Pong-Wong, Ricardo, Villanueva, Beatriz, Woolliams, John   +4 more
core  

Integrative linkage and recombination analysis of 25 X-STRs across 7 linkage groups using pedigree-based and SNP-based strategies [PDF]

Jinglei Qian, Xiaoqin Qian, Qiqi Ji, Zhimin Li, Chengchen Shao, Hongmei Xu, Fan Yang, Jianhui Xie   +7 more
openalex   +1 more source

ROS Activated NETosis of Bone Marrow CD55+ Intermediate Mature Neutrophils Through HIF1α‐PADI4 Pathway to Initiate Bone Aging

Advanced Science, EarlyView.
In this study, we find CD55+ neutrophils show activated NETosis within bone marrow, induce BMSC senescence and osteogenesis inhibition, finally leading to bone aging initiation. Mechanistically, ROS synergizes with the CD55‐driven HIF1α‐PADI4 pathway to promote NETosis.
Yutong Guo, Shengjie Cui, Xi Wen, Yidi Wang, Ben Wu, Yixiang Wang, Yan Gu   +6 more
wiley   +1 more source

A pedigree with homocystinuria caused by a novel homozygous CBS gene mutation: A case report. [PDF]

J Int Med Res
Xu X, He Z, Shen Y, Zhao J, Geng Y.
europepmc   +1 more source

The kinship2 R Package for Pedigree Data

Human Heredity, 2014
J. Sinnwell, T. Therneau, D. Schaid
semanticscholar   +1 more source

Genome‐Wide by Lifetime Environment Interaction Studies of Brain Imaging Phenotypes

Advanced Science, EarlyView.
This study explores genome‐wide by lifetime environment interactions on brain imaging phenotypes. Gene‐environment interactions explain more phenotypic variance than main effects, pinpoint regulatory variants, and reveal exposure‐specific biological pathways.
Sijia Wang, Meiyun Wang, Peng Zhang, Jingliang Cheng, Longjiang Zhang, Wenzhen Zhu, Shijun Qiu, Zuojun Geng, Guangbin Cui, Yongqiang Yu, Weihua Liao, Xi‐Nian Zuo, Hui Zhang, Bo Gao, Xiaojun Xu, Tong Han, Zhenwei Yao, Quan Zhang, Feng Liu, Qiang Xu, Jiayuan Xu, Jilian Fu, Nana Liu, Yuan Ji, Jie Tang, Lining Guo, Mengge Liu, Xiaoxiao Xiao, Xiaoxuan Liu, Wei Li, Caihong Wang, Wei Wei, Dapeng Shi, Su Lui, Zhihan Yan, Feng Chen, Jing Zhang, Wen Shen, Yanwei Miao, Dawei Wang, Jia‐Hong Gao, Yunjun Yang, Kai Xu, Junfang Xian, Bing Zhang, Xiaochu Zhang, Zhaoxiang Ye, Le Yu, Wen Qin, Meng Liang, Chunshui Yu, the CHIMGEN Consortium   +51 more
wiley   +1 more source

RUNX1-FPDMM in families with mild thrombocytopenia and platelet function anomalies: a case series. [PDF]

Front Med (Lausanne)
Glonnegger H, Boeckelmann D, Wiedenhöfer R, Hassenpflug WA, Ripperger T, Lebrecht D, Knöfler R, Tiebel O, Koehler U, Wehr C, Sirb H, Sparber-Sauer M, Reinsberger K, Yoshimi A, Strahm B, Zieger B.   +15 more
europepmc   +1 more source

IL1R2 Marks and Sorts a Spermatogonial Stem Cell Population Critical for Restoring Spermatogenesis Upon Interruption in Mammals

Advanced Science, EarlyView.
Spermatogonial stem cells (SSCs) provide critical support to spermatogenesis. Here, the author established Il1r2 as a sorting marker for SSCs, with which further insights into the SSC heterogeneity and dynamic features can be obtained. They also confirmed findings in both mouse and human, thus validating IL1R2 as the surface marker for isolating and ...
Pengyu Li, Zexuan Zhang, Zihan Xie, Cheng Jin, Zhipeng Wang, Changwei Yuan, Jun Zhu, Jielin Tang, Mengzhen Li, Dingfeng Zou, Xinyu Mang, Jun Liu, Dingyao Chen, Qi Geng, Yan Lu, Ning Zhang, Shiying Miao, Jing Peng, Kai Li, Wei Song   +19 more
wiley   +1 more source