Results 101 to 110 of about 103,950 (258)

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

A Rare RIPK3 Variant Enhances Necroptosis and Promotes Inflammation in a Still Disease–Like Autoinflammatory Syndrome

Arthritis &Rheumatology, EarlyView.
Objective Still disease represents a prototypical polygenic systemic autoinflammatory disease, characterized by recurrent systemic inflammation and dysregulation of innate immunity. Despite extensive clinical characterization, familial clustering Still disease remains unreported.
Longfang Chen, Qihua Dai, Yu Xiao, Jialin Dai, Mengyan Wang, Yuning Ma, Yujie Shen, Zhimo Xu, Jianfen Meng, Xia Chen, Da Yi, Yue Sun, Hui Shi, Honglei Liu, Xiaobing Cheng, Yutong Su, Junna Ye, Huihui Chi, Zhuochao Zhou, Tingting Liu, Jialin Teng, Chengde Yang, Jinchao Jia, Qiongyi Hu   +23 more
wiley   +1 more source

Oocyte–cumulus cell interaction: a key factor in early embryo development

Biological Reviews, EarlyView.
ABSTRACT The evaluation of oocyte competence is a fundamental step in achieving successful outcomes following assisted reproduction techniques (ART). At present, however, conventional oocyte maturation assessment is carried out by morphological observation, which is a subjective method that does not consider molecular features.
Marc Torres‐Garrido, Marc Yeste, Yentel Mateo‐Otero   +2 more
wiley   +1 more source

Effects of chromosome number reduction on mitotic and meiotic stability in fission yeast

Genome Biology
Background Genetic information is stored on multiple chromosomes in eukaryotic organisms and is passed on to offspring through cell division. How chromosome number influences cell division and chromosome segregation is not yet understood. Results In this
Yueyue Jiang, Yanze Jian, Lingyun Nie, Xin Gu, Ziyi Lu, Yongkang Chu, Xing Liu, Xuebiao Yao, Jin-Qiu Zhou, Shengnan Zheng, Chuanhai Fu   +10 more
doaj   +1 more source

Chromosome Segregation [PDF]

Developmental Cell, 2002
Weitzer, Stefan, Uhlmann, Frank
openaire   +1 more source

Heat stress in spermatogenesis: a redox‐dependent decision network linking ROS, autophagy, and regulated cell death

Biological Reviews, EarlyView.
ABSTRACT Heat stress (HS) is an increasing threat to male reproductive health, disrupting spermatogenesis through complex and interdependent cellular responses within the seminiferous epithelium. Although excessive reactive oxygen species (ROS) production is a hallmark of HS, ROS also act as central regulators of cell fate decisions beyond their role ...
Ribrio Ivan Tavares Pereira Batista
wiley   +1 more source

Microtubule Destabilizing Kinesins: A Historical Perspective and Thoughts for the Future

Cytoskeleton, EarlyView.
ABSTRACT The microtubule cytoskeleton plays critical roles in multiple cellular processes such as mitotic spindle assembly and chromosome segregation. Cells contain a number of microtubule‐associated proteins that regulate microtubule dynamics both temporally and spatially in cells. The microtubule depolymerizing kinesins include members of the Kinesin‐
Claire E. Walczak
wiley   +1 more source

COMMENT ON “A PARTIAL TRISOMY 9 CASE WITH DICENTRIC CHROMOSOME DUE TO THE ADJACENT-2 SEGREGATION OF MATERNAL RECIPROCAL TRANSLOCATION”

İstanbul Tıp Fakültesi Dergisi
Dear Editor, We have read the article entitled “A partial trisomy 9 case with dicentric chromosome due to the adjacent-2 segregation of maternal reciprocal translocation” by Urtekin et al.
Juan Pablo Meza-espınoza, Verónica Judith Pıcos-cárdenas, Evelia Leal-ugarte   +2 more
doaj   +1 more source

Chromosome Segregation and Cancer

Experimental Cell Research, 1999
S L, Holloway, J, Poruthu, K, Scata
openaire   +2 more sources

Clinical utility and genetic landscape of exome sequencing in a large pediatric epilepsy cohort: Insights from a Turkish tertiary care center

Epileptic Disorders, EarlyView.
Abstract Objective To evaluate the diagnostic utility and genetic spectrum of next‐generation sequencing (NGS) in a large, well‐phenotyped cohort of Turkish pediatric patients with epilepsy of unknown etiology. Methods Between January 2021 and December 2024, 250 children (115 female, 135 male) with unexplained epilepsy underwent either whole‐exome ...
Derya Karaer, Beste Kipçak Yüzbaşı, İpek Şahin, Olcay Güngör, Kadri Karaer   +4 more
wiley   +1 more source