Results 171 to 180 of about 2,310,607 (369)

NuSAP Safeguards Centriole Integrity to Mediate CEP57‐CEP152 Torus Recruitment for Proper Engagement

Advanced Science, EarlyView.
This study reveals a novel role for the microtubule stabilizer NuSAP at centrioles. NuSAP depletion destabilizes the centriole's tubulin structure, causing premature disengagement, PCM defects, and mis‐localization of the CEP57‐CEP63‐CEP152 complex. By reinforcing centriole architecture, NuSAP enables early CEP57 loading and initiates a newly proposed ...
Shiyu Zhang, Zemin Jiang, Qiaoyun Yang, Hong Zheng, Minghao Wang, Chennianci Zhu, Lih‐Wen Deng, Karen Carmelina Crasta, Yih‐Cherng Liou   +8 more
wiley   +1 more source

Chromosomal abnormalities in couples with recurrent spontaneous miscarriage: a 21-year retrospective study, a report of a novel insertion, and a literature review

Journal of Assisted Reproduction and Genetics, 2018
Zouhair Elkarhat, Zineb Kindil, Latifa Zarouf, Lunda Razoki, Jamila Aboulfaraj, Chadli Elbakay, Sanaa Nassereddine, B. Nasser, A. Barakat, H. Rouba   +9 more
semanticscholar   +1 more source

Meta‐GWAS of Pig Semen Quality Traits Reveals Conserved Genes Regulating Mammalian Fertility

Advanced Science, EarlyView.
This study incorporated 14 210 individuals to perform a GWAS meta‐analysis of six semen quality traits. The GWAS meta‐analysis identifies 234 GWAS loci associated with semen quality traits. The incorporation with a functional genomics resource explains potential genetic regulation of ∼40% GWAS signals underlying semen quality traits.
Qing Lin, Xiaodian Cai, Zhanming Zhong, Tingting Li, Xinyou Chen, Wondossen Ayalew, Zhiting Xu, Chen Wei, Xiaoke Zhang, Hong Cheng, Zhenyang Zhang, Xuehua Li, Yongjie Tang, Siqian Chen, Jun Zhou, Jinglei Si, Xibo Wu, Chao Ning, Qishan Wang, Yuchun Pan, Yahui Gao, Jiaqi Li, Ying Yu, Zhe Zhang, Yunxiang Zhao, Lingzhao Fang, Zhe Zhang   +26 more
wiley   +1 more source

Experience of copy number variation sequencing applied in spontaneous abortion

BMC Medical Genomics
Purpose We evaluated the value of copy number variation sequencing (CNV-seq) and quantitative fluorescence (QF)-PCR for analyzing chromosomal abnormalities (CA) in spontaneous abortion specimens.
Yi-Fang Dai, Xiao-Qing Wu, Hai-Long Huang, Shu-Qiong He, Dan-Hua Guo, Ying Li, Na Lin, Liang-Pu Xu   +7 more
doaj   +1 more source

Barnes Hospital Bulletin [PDF]

, 1967
https://digitalcommons.wustl.edu/bjc_barnes_bulletin/1023/thumbnail ...

core   +1 more source

Atypical chromosome abnormalities in acute myeloid leukemia type M4 [PDF]

, 2007
Agnes Cristina Fett‐Conte, Roseli Viscardi Estrela, Cristina B. Vendrame-Goloni, Andréa Borduchi Carvalho-Salles, Octávio Ricci-Júnior, Marileila Varella‐Garcia   +5 more
openalex   +1 more source

Mapping the Non‐Canonical Splicing Variants: Decrypting the Hidden Genetic Architecture of Idiopathic Male Infertility

Advanced Science, EarlyView.
This study highlights the significance of non‐canonical splicing variants in male infertility, a factor often overlooked during the analysis of high‐throughput sequencing data. Incorporating the non‐canonical splicing variants prioritization in the genetic analysis pipeline will increase the genetic diagnosis of patients with male infertility ...
Kuokuo Li, Yuge Chen, Dongdong Tang, Yuying Sheng, Xu Han, Hao Geng, Na Zhang, Zongliu Duan, Guanxiong Wang, Yang Gao, Rui Guo, Rong Hua, Zhiming Ding, Chuan Xu, Qunshan Shen, Zhen Yu, Bing Song, Mingrong Lv, Yuping Xu, Huan Wu, Ji Wu, Yunxia Cao, Xiaojin He   +22 more
wiley   +1 more source

Abnormal merosin in adults. A new form of late onset muscular dystrophy not linked to chromosome 6q2 [PDF]

, 1998
Kate Bushby
openalex   +1 more source

Impact of holoprosencephaly, exomphalos, megacystis and increased nuchal translucency on first‐trimester screening for chromosomal abnormalities

Ultrasound in Obstetrics and Gynecology, 2017
A. Syngelaki, L. Guerra, I. Ceccacci, T. Efeturk, K. Nicolaides   +4 more
semanticscholar   +1 more source

Connexin43 Deficiency Leads to Ventricular Arrhythmias by Reprogramming Proline Metabolism

Advanced Science, EarlyView.
The study demonstrated that connexin43 (Cx43) knockout caused arrhythmic phenotype and decreased proline content in vitro and in vivo. Mechanistically, Cx43 interacts with the amino acid transporter SNAT2 (sodium‐dependent neutral amino acid transporter), and its deficiency disrupts proline transport and metabolism.
Hangying Ying, Hangping Fan, Yunhe Wang, Ruhong Jiang, Dongsheng Cai, Hui Cheng, Hao Wang, Chenyang Jiang, Ping Liang   +8 more
wiley   +1 more source