Results 81 to 90 of about 88,605 (330)

SUMO control of centromere homeostasis

Frontiers in Cell and Developmental Biology, 2023
Centromeres are unique chromosomal loci that form the anchorage point for the mitotic spindle during mitosis and meiosis. Their position and function are specified by a unique chromatin domain featuring the histone H3 variant CENP-A.
Sebastiaan J. W. van den Berg, Sebastiaan J. W. van den Berg, Lars E. T. Jansen   +2 more
doaj   +1 more source

An asymmetric centromeric nucleosome

eLife, 2018
Nucleosomes contain two copies of each core histone, held together by a naturally symmetric, homodimeric histone H3-H3 interface. This symmetry has complicated efforts to determine the regulatory potential of this architecture. Through molecular design and in vivo selection, we recently generated obligately heterodimeric H3s, providing a powerful tool ...
Yuichi Ichikawa, Noriko Saitoh, Paul D Kaufman   +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

A genome-wide study of Hardy–Weinberg equilibrium with next generation sequence data [PDF]

, 2017
Statistical tests for Hardy–Weinberg equilibrium have been an important tool for detecting genotyping errors in the past, and remain important in the quality control of next generation sequence data.
AM Veerappa, Bruce Weir, BS Weir, Deepti Jain, DL Hartl, G Benson, I Gomes, J Graffelman, J Graffelman, J Graffelman, JA Bailey, JA Traherne, Jan Graffelman, JE Wigginton, JF Crow, JS Beckmann, L Crooks, L Hosking, R Nielsen, RV Rohlfs, SM Leal, TH Emigh, The MHC sequencing consortium, YY Teo   +23 more
core   +3 more sources

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

Sister centromere fusion during meiosis I depends on maintaining cohesins and destabilizing microtubule attachments.

PLoS Genetics, 2019
Sister centromere fusion is a process unique to meiosis that promotes co-orientation of the sister kinetochores, ensuring they attach to microtubules from the same pole during metaphase I.
Lin-Ing Wang, Arunika Das, Kim S McKim
doaj   +1 more source

Assembly of specialised chromatin at Fission Yeast Centromeres [PDF]

, 2015
Despite the conserved essential function of centromeres, centromeric DNA is not conserved between species. There is strong evidence indicating that centromeres are epigenetically regulated. Although centromeres normally assemble on preferred sequences,
Pidoux, Alison L.
core  

A family case of fertile human 45,X,psu dic(15;Y) males [PDF]

, 2006
We report on a familial case including four male probands from three generations with a 45,X,psu dic(15;Y)(p11.2;q12) karyotype. 45,X is usually associated with a female phenotype and only rarely with maleness, due to translocation of small Y chromosomal
Andersson M, Baumstark A, Buonadonna AL, C.S. Nagarajappa, Callen DF, Charchar FJ, Fracarro M, Freije D, Gal A, Haaf T, Hsu TC, I. Hansmann, I. Palaniappan, Koiffmann CP, Ma NS, Maserati E, Matthey R, N. Chandra, P.M. Gopinath, R. Wimmer, Ried T, Schempp W, Schiebel K, Schmid M, Siffroi JP, Subrt I, Tiemeier DC, W. Schempp, Weber B, White LM   +29 more
core   +1 more source

Centromeres in nuclear architecture [PDF]

Cell Cycle, 2013
The centromere is a unique region of the chromosome that defines the site of kinetochore assembly and is essential for the faithful segregation of the sister chromatids into the 2 daughter cells. While the kinetochore only forms as a transient structure during mitosis, the centromere persists as a stable domain throughout the cell cycle, bound by ...
Patrick Heun, Jan Padeken
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