Results 161 to 170 of about 76,435 (221)

Monoallelic POLR3A Variants Cause Early‐Onset Peripheral Neuropathy

Annals of Neurology, EarlyView.
Objective Biallelic variants in genes encoding the RNA polymerase III complex (Pol III) cause a spectrum of neurological disorders primarily affecting the central nervous system. Monoallelic variants have been reported in the POLR3B subunit only, associated with neurodevelopmental disorder, epilepsy, and peripheral neuropathy.
Luiza L. P. Ramos, Jevin M. Parmar, Robin Wijngaard, Bianca R. Grosz, Tamas Lazar, Ligia Mateiu, Steve Vucic, Kishore R. Kumar, Dennis Yeow, Laura I. Rudaks, Lonneke de Boer, Annemarie de Vreugd, David A. Koolen, Thatjana Gardeitchik, Anita Cairns, Krishnan Iyengar, Fernando Kok, Fernanda Barbosa Figueiredo, Alzira Alves de Siqueira Carvalho, Luiz S. Mageste Barbosa, Rodrigo Rezende Arantes, Tyler Rehbein, Jordan E. Bontrager, Elizabeth P. Wood, Janet E. Sowden, Gavin Monahan, Meutia Kumaheri, Ivy Cuijt, Melina Ellis, Gonzalo Perez‐Siles, Elyshia McNamara, Ronald van Beek, Celine B. Meijers, Ivaylo Tournev, Stephan Zuchner, Shoshana J. Wodak, Clara D. M. van Karnebeek, Nigel Laing, Liana N. Semcesen, David A. Stroud, David N. Herrmann, Velina Guergueltcheva, Marina L. Kennerson, Machteld M. Oud, Gianina Ravenscroft, Ayse Candayan, Albena Jordanova   +46 more
wiley   +1 more source

Inverted Alu repeats in loop-out exon skipping across hominoid evolution. [PDF]

Nucleic Acids Res
Denisko D, Kim J, Ku J, Zhao B, Lee EA.
europepmc   +1 more source

Appraisal of a Hypothesis on Embryo Fusion and Individuation. [PDF]

Biology (Basel)
O'Keeffe FJ, Mendz GL.
europepmc   +1 more source

Sexing chicken embryos by real-time PCR using primers for the KCMF gene located on the W chromosome. [PDF]

Poult Sci
Bernardet N, Gérard C, Réhault-Godbert S.   +2 more
europepmc   +1 more source

Previously undocumented regional variability in crab‐eating macaque skull sexual dimorphism and its implications for biological and morphometric studies

The Anatomical Record, EarlyView.
Abstract In a large sample of adult crab‐eating macaques, we quantified sexual dimorphism in size, shape, and covariance across the whole skull and among anatomical regions of the cranium and mandible. All regions showed significant mean sex differences, but the magnitude of size and shape dimorphism varied substantially.
Andrea Cardini, Paul O'Higgins
wiley   +1 more source

Genetic analyses enabled by the fourth chromosome resource project reveal unexpected mutant phenotypes and suggest new disease models. [PDF]

G3 (Bethesda)
Weasner BM, Stinchfield MJ, Weasner BP, Takada S, O'Connor MB, Kumar JP, Newfeld SJ.   +6 more
europepmc   +1 more source

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

Mitotic chromatin compaction tethers extrachromosomal DNA to chromosomes and prevents their mis-segregation into micronuclei. [PDF]

J Biol Chem
Yang LM.
europepmc   +1 more source

Co‐Infection of Brucella canis and Brucella melitensis in a Domestic Dog With Zoonotic Transmission to Human, China

Animal Research and One Health, EarlyView.
Source attribution figure for human and dogs Brucella canis infections. ABSTRACT We report a rare occurrence of genetic material from both Brucella canis and B. melitensis detected in a domesticated dog from Jiangsu Province, China. The detection was confirmed through serological assays, quantitative PCR (qPCR), metagenomic and genomic sequencing ...
Shengxin Ge, Jian Xu, Qingchun Shen, Jiabo Ding, Xiaowen Yang   +4 more
wiley   +1 more source

Assembling unmapped reads reveals hidden variation in South Asian genomes. [PDF]

Nat Commun
Das A, Biddanda A, McCoy RC, Schatz MC.
europepmc   +1 more source