Results 181 to 190 of about 58,343 (309)

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

Placental mosaicism in prenatal diagnosis. [PDF]

Med Genet
Döttelmayer P, Fauth C.
europepmc   +1 more source

Live births after simultaneous avoidance of monogenic diseases and chromosome abnormality by next-generation sequencing with linkage analyses. [PDF]

Proc Natl Acad Sci U S A, 2015
Yan L, Huang L, Xu L, Huang J, Ma F, Zhu X, Tang Y, Liu M, Lian Y, Liu P, Li R, Lu S, Tang F, Qiao J, Xie XS.   +14 more
europepmc   +1 more source

Elements of Chromosome Abnormalities [PDF]

Postgraduate Medical Journal, 1964
openaire   +2 more sources

Determining the timeline of gonadal and genital differentiation in male and female equine fetuses allows for early detection and intervention in malformations

The Anatomical Record, EarlyView.
Abstract Sexual differentiation in the equine fetus involves coordinated morphogenetic processes that shape both the gonads and the genital ducts. Although the formation of testes and ovaries has been relatively well documented, the temporal dynamics and morphometric patterns of the mesonephric (Wolffian) and paramesonephric (Müllerian) ducts remain ...
Tais Harumi de Castro Sasahara, Silvio Pires Gomes, Fabio Cesar Magioli Abdala, Bruno Cesar Schimming, Maria Angelica Miglino   +4 more
wiley   +1 more source

Prenatal diagnosis strategies and pregnancy outcomes in the Luohe region of China in the context of increasing maternal age. [PDF]

Sci Rep
Yang S, Li R, Gong Z, Xin S, He Y, Teng S, Gao Y, Fu X.   +7 more
europepmc   +1 more source

Reduction of Ribonucleotide Reductase Subunit RRM2 Potentially Impairs Gut Function of Woody Breast Broilers

Animal Research and One Health, EarlyView.
Woody breast compromises meat quality leading to reduced consumer appeal. Although its causes are unclear, improvements observed with certain dietary supplements suggest that gut health may influence woody breast development. Ribonucleotide reductase subunit RRM2 is vital for mitochondrial function and gastrointestinal integrity, and alteration in its ...
Majid Shakeri, Elizabeth Ziabtchenko, Janghan Choi, Caitlin E. Harris, Richard J. Buhr, Trevor R. Mitchell, Byungwhi Kong, Hong Zhuang, Brian Bowker   +8 more
wiley   +1 more source

A comprehensive foundation model for generalizable cytogenetics in precision oncology with CHROMA. [PDF]

NPJ Precis Oncol
Yang C, Dai W, Zhang Y, Chen S, Hu J, Su J, Chen Y, Xu A, Li N, Gao X, Yu Y.   +10 more
europepmc   +1 more source

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

Pharmacokinetic profiling of imatinib in relation to CYP3A4 activity in leukaemia patients

British Journal of Clinical Pharmacology, EarlyView.
Aim Imatinib pharmacokinetics exhibit large interindividual variability because of differences in CYP3A4 activity—the main imatinib‐metabolizing enzyme. While therapeutic drug monitoring is effective, it requires steady‐state conditions and frequent sampling.
Anna Sofie Buhl Rasmussen, Mathilde Rønne Koch, Cecilie Utke Rank, Christen Lykkegaard Andersen, Allan Weimann, Maria Thastrup, Tianwu Yang, Trine Meldgaard Lund, Ib Jarle Christensen, Flemming Nielsen, Tore Bjerregaard Stage, Sara Bisgaard Jensen, Mette Klarskov Andersen, Kjeld Schmiegelow, Kim Dalhoff   +14 more
wiley   +1 more source