Results 141 to 150 of about 98,180 (299)

On the possibility of yet a third kinetochore system in the protist phylum Euglenozoa

mBio
Transmission of genetic material from one generation to the next is a fundamental feature of all living cells. In eukaryotes, a macromolecular complex called the kinetochore plays crucial roles during chromosome segregation by linking chromosomes to ...
Corinna Benz, Maximilian W. D. Raas, Pragya Tripathi, Drahomíra Faktorová, Eelco C. Tromer, Bungo Akiyoshi, Julius Lukeš   +6 more
doaj   +1 more source

Clinical and molecular features of PRCD‐associated retinopathy

Acta Ophthalmologica, EarlyView.
Abstract Purpose To describe the clinical and genetic characteristics of patients with biallelic disease‐causing variants in the PRCD (Progressive Rod‐Cone Degeneration) gene. Methods Multicentre, retrospective cohort study of 19 patients from 13 families across nine reference centres in six countries.
Vasil Kostin, Karolina Kaminska, Marco Cattaneo, Enrico Ambrosini, Carmen Ayuso, Almudena Ávila‐Fernández, Béatrice Bocquet, Luisa Coutinho‐Santos, Benedetto Falsini, Lidia Fernandez‐Caballero Palomeque, Bohdan Kousal, Petra Liskova, Inmaculada Martín‐Mérida, María Juliana Ballesta‐Martínez, Daan Panneman, Susanne Roosing, Isabelle Meunier, José M. Millán, Monika Pankievič, Irene Perea‐Romero, Virginie Peter, Giorgio Placidi, Cristina Santos, Francesca Simonelli, Ana Berta Sousa, Francesco Testa, Marie Vajter, Marianna Weener, Mathieu Quinodoz, Carlo Rivolta, Giacomo Calzetti   +30 more
wiley   +1 more source

Chromosomal and immune dysregulation underlying granular mitosis in glioblastoma

Brain Pathology, EarlyView.
Granular mitosis (GM) morphology is linked to PI3K/PTEN pathway alterations, chromosomal disorganization, and impaired innate immunity. Cells exhibiting GM morphology are associated with localized immune responses within their immediate spatial microenvironment.
Rachel Barboza, Xuan Wang, August Lin, Eric Liu, Pramath Kakodkar, Yayuan Zhao, Quinn Le, Christina A. Castellani, Qi Zhang   +8 more
wiley   +1 more source

Immunohistochemistry as a tool for identifying PDGFRA amplification in central nervous system tumors

Brain Pathology, EarlyView.
PDGFRA gene amplification is now recognized as a diagnostically and prognostically relevant molecular alteration in central nervous system tumors. Herein, we demonstrated that PDGFRA immunohistochemistry is a highly specific and sensitive biomarker for identifying PDGFRA amplification and should be part of the neuropathologist's routine panel of ...
Arnault Tauziède‐Espariat, Guilhem Amargos, Farah Sassi, Lauren Hasty, Alice Métais, Pascale Varlet   +5 more
wiley   +1 more source

Keeping kinetochores on track

European Journal of Cell Biology, 2012
The multiple functions of kinetochores are reflected in their complex composition, with over a hundred different proteins, which self-associate in several functional subcomplexes. Most of these kinetochore proteins were identified over the last 10-12 years using a combination of genetic, cell biological, biochemical, and bioinformatic approaches in ...
openaire   +5 more sources

Notoginsenoside‐Fa mitigates vascular endothelial permeability via targeting SUGT1 to stabilize NLRP3 in a resting state

British Journal of Pharmacology, EarlyView.
Background and Purpose Notoginsenoside‐Fa (Noto‐Fa) is an emerging active compound derived from notoginseng with promise in treating cardiovascular diseases. The development of cardiovascular diseases is intricately linked to the damage of vascular endothelium and it is widely acknowledged that numerous chronic inflammation pathways, especially the ...
Xiao‐Ying Yu, Da‐Hao Mai, Xing‐Ming Zhong, Li‐Ting Huang, Lan‐Ting Fu, He‐Cai Wang, Ke Wang, Hai‐Yan Li, Qiu‐He Chen, Yang Chen   +9 more
wiley   +1 more source

Meiosis-specific distal cohesion site decoupled from the kinetochore

Nature Communications
Primary constriction of the M-phase chromosome serves as a marker for the kinetochore position. Underlying this observation is the concept that the kinetochore is spatially linked with the pericentromere where sister-chromatids are cohered. Here, we find
Bo Pan, Melania Bruno, Todd S. Macfarlan, Takashi Akera   +3 more
doaj   +1 more source

Ionizing Radiation and Ultraviolet Light Irradiation‐Associated DNA Damage Increasing Genomic Instability Risk

Cancer Science, EarlyView.
UV irradiation induces two major types of pyrimidine dimers, CPDs and 6–4PPs. Whereas 6–4PPs efficiently induce cell‐cycle arrest, CPDs do not and frequently persist into S phase. As a result, DSBs can arise in the presence of unrepaired CPDs after 6–4PPs have been repaired, increasing the risk of genomic instability.
Ken‐ichi Yoshioka, Yusuke Matsuno, Rika Kusumoto‐Matsuo   +2 more
wiley   +1 more source

Pathogenicity of NUSAP1 Variants Is Defined by NMD‐Escape: Evidence From Two Novel Cases and Systematic Population‐Based Variant Analysis

Clinical Genetics, EarlyView.
Heterozygous de novo nonsense variants in the penultimate and last exons of NUSAP1 were identified in two unrelated individuals, predicted to escape NMD. In population data, nonsense variants were observed in exons 1–9 (of 11) in NUSAP1 but were absent from its 3′‐terminal region.
Maureen Jacob, Susann Badmann, Stefania Bigoni, Maria Iascone, Ilaria Vivaldi, Katharina Mayerhanser, Robert Kopajtich, Holger Prokisch, Cristina Forest, Sebastian Eck, Michael Zech, Elisabeth Graf, Matias Wagner, Juliane Winkelmann, Theresa Brunet, Melanie Brugger   +15 more
wiley   +1 more source

Chromosome instability and kinetochore dysfunction [PDF]

, 2007
Chromosomal instability (CIN) has been recognized as a hallmark of human cancer and is caused by continuous chromosome missegregation during mitosis.
Tomonaga, T., Nomura, F.
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