Results 71 to 80 of about 51,411 (295)

Centromere Emergence in Evolution [PDF]

Genome Research, 2001
Evolutionary centromere repositioning is a paradox we have recently discovered while studying the conservation of the phylogenetic chromosome IX in primates. Two explanations were proposed: a conservative hypothesis assuming sequential pericentric inversions, and a more challenging assumption involving centromere emergence during evolution. The complex
VENTURA, MARIO, ARCHIDIACONO, Nicoletta, ROCCHI, Mariano   +2 more
openaire   +4 more sources

Diagnostic Yield of Genome Sequencing Versus Exome Sequencing in Pediatric Patients With Rare Phenotypes: A Systematic Review and Meta‐Analysis

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Rare diseases affect 6% of Western societies and are a leading cause of pediatric mortality. The popularization of Next Generation Sequencing technologies, especially exome sequencing (ES), revolutionized the diagnosis of children with rare disease. Still, most patients face extensive diagnostic odysseys and remain undiagnosed.
Anna Luiza Braga Albuquerque, Giovanna Giovacchini dos Santos, Sara Hadj Sadok, Breno Bopp Antonello, Lorena Melo de Jesus, Maria Eduarda Andrade de Carvalho, Antonio Mutarelli, Paulo Victor Zattar Ribeiro   +7 more
wiley   +1 more source

Centromere deletion in Cryptococcus deuterogattii leads to neocentromere formation and chromosome fusions

eLife, 2020
The human fungal pathogen Cryptococcus deuterogattii is RNAi-deficient and lacks active transposons in its genome. C. deuterogattii has regional centromeres that contain only transposon relics.
Klaas Schotanus, Joseph Heitman
doaj   +1 more source

Unraveling the Genomic Architecture of Supernumerary (Iso‐)Dicentric Chromosomes in Dup15q Syndrome: Insight From a Systematic Literature‐Based Study

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Chromosomal aberrations, particularly copy‐number variations (CNVs), are prevalent in neurodevelopmental disorders (NDD) and significantly contribute to their pathogenesis. Copy‐number gains (CN gains) in 15q11‐q13, primarily consisting of a pseudo (iso‐)dicentric chromosome 15 [(i)dic(15)] or an interstitial duplication, are among the most ...
Sebastian Burkart, Markus Ries, Verena Romero, Karin Burau, Christian P. Schaaf, Maja Hempel   +5 more
wiley   +1 more source

CENP-A Ubiquitylation Is Inherited through Dimerization between Cell Divisions

Cell Reports, 2016
The presence of chromatin containing the histone H3 variant CENP-A dictates the location of the centromere in a DNA sequence-independent manner. But the mechanism by which centromere inheritance occurs is largely unknown. We previously reported that CENP-
Yohei Niikura, Risa Kitagawa, Katsumi Kitagawa   +2 more
doaj   +1 more source

Non‐Invasive Prenatal Testing by Cell‐Free DNA (cfNIPT) for Detecting Turner Syndrome With Mosaicism and Structural Variants—Prenatal Findings and Postnatal Outcomes

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Turner Syndrome (TS) is a sex chromosomal disorder associated with karyotype heterogeneity. Although TS can be associated with severe prenatal findings, most often linked to the 45, X karyotype, the majority of TS fetuses have no overt phenotype, resulting in delayed diagnosis and management.
Ivonne Bedei, Johanna Bruder, Ida C. B. Lund, Simon H. Thomsen, Ida Vogel, Andrea T. Maciel‐Guerra, Francisco Alvarez‐Nava, Melissa L. Crenshaw, Roland Axt‐Fliedner, Claus H. Gravholt, Anne Skakkebæk   +10 more
wiley   +1 more source

The budding yeast Centromere DNA Element II wraps a stable Cse4 hemisome in either orientation in vivo

eLife, 2014
In budding yeast, a single cenH3 (Cse4) nucleosome occupies the ∼120-bp functional centromere, however conflicting structural models for the particle have been proposed. To resolve this controversy, we have applied H4S47C-anchored cleavage mapping, which
Steven Henikoff, Srinivas Ramachandran, Kristina Krassovsky, Terri D Bryson, Christine A Codomo, Kristin Brogaard, Jonathan Widom, Ji-Ping Wang, Jorja G Henikoff   +8 more
doaj   +1 more source

Speciation Mediated by Centromeres [PDF]

Developmental Cell, 2013
Speciation accompanies reproductive isolation in natural populations through hybrid sterility or lethality. However, the molecular bases of hybrid lethality are mysterious. In this issue of Developmental Cell, Thomae et al. (2013) demonstrate that Drosophila speciation factors HMR and LHR form a centromeric complex and that increased dosage causes ...
openaire   +3 more sources

Comparative analysis of short‐term and long‐term LL‐37‐induced rosacea‐like mouse models: Histopathological features and inflammatory immune responses

Animal Models and Experimental Medicine, EarlyView.
The aim of this study was to improve the long‐term LL‐37 mouse model and compare the disease manifestations and pathophysiology of short‐term and long‐term LL‐37‐induced rosacea‐like models. The results show that the long‐term LL‐37 induced mouse model provides a practical animal model for further study of the pathological mechanism of severe rosacea ...
Yiling Wu, Chuanxi Zhang, Hui Jin, Ruiping Zheng, Tian Li, Fuyu Jin, Yaqian Li, Xuemin Gao, Hong Xu, Zhongqiu Wei, Jie Yang   +10 more
wiley   +1 more source

Hand Swelling and Other Non–Raynaud Phenomenon Symptoms as the Initial Presentation of Systemic Sclerosis: Prevalence and Clinical Associations in Two US Cohorts

Arthritis &Rheumatology, EarlyView.
Objective Raynaud phenomenon (RP) is often the initial clinical manifestation of systemic sclerosis (SSc), but some patients develop other manifestations first. To help elucidate the diversity of SSc presentation in its early stages, we describe the initial clinical manifestations and antinuclear antibody (ANA) profiles of patients in two early SSc ...
Iqtidar Hanif, Shervin Assassi, Maureen D. Mayes, Zsuzsanna H. McMahan, Meng Zhang, Julio Charles, John M. VanBuren, Jessica S. Alvey, Kimia Ghaffari, Elana J. Bernstein, Flavia V. Castelino, Lorinda Chung, Luke Evnin, Tracy M. Frech, Jessica K. Gordon, Faye N. Hant, Laura K. Hummers, Dinesh Khanna, Kimberly S. Lakin, Dorota Lebiedz‐Odrobina, Yiming Luo, Ashima Makol, Jerry A. Molitor, Duncan F. Moore, Carrie Richardson, Nora Sandorfi, Ami A. Shah, Ankoor Shah, Victoria K. Shanmugam, Virginia D. Steen, Elizabeth R. Volkmann, Carleigh Zahn, Brian Skaug   +32 more
wiley   +1 more source