Results 41 to 50 of about 153,409 (229)

Truncation of POC1A associated with short stature and extreme insulin resistance [PDF]

, 2015
We describe a female proband with primordial dwarfism, skeletal dysplasia, facial dysmorphism, extreme dyslipidaemic insulin resistance and fatty liver associated with a novel homozygous frameshift mutation in POC1A, predicted to affect two of the three ...
Adams, Claire, Barrett, Jeff, Barroso, Inês, Chen, Jian Hua, Durbin, Richard, Farooqi, Sadaf, Fitzpatrick, David, Geschwind, Daniel, Huang Doran, Isabel, Hurles, Matt, Kaye, Jane, Keane, Thomas, Kennedy, Karen, Langford, Cordelia, Mccarthy, Shane, Muddyman, Dawn, Owen, Michael, O’Rahilly, Stephen, Palotie, Aarno, Payne, Felicity, Richards, Bren, Savage, David B., SEGNI, Maria, Semple, Robert K., Sleigh, Alison, Soranzo, Nicole, Spector, Tim, Stalker, Jim, Timpson, Nic, Zeggini, Eleftheria   +29 more
core   +8 more sources

ZYG-9ch-TOG promotes the stability of acentrosomal poles via regulation of spindle microtubules in C. elegans oocyte meiosis.

PLoS Genetics, 2022
During mitosis, centrosomes serve as microtubule organizing centers that guide the formation of a bipolar spindle. However, oocytes of many species lack centrosomes; how meiotic spindles establish and maintain these acentrosomal poles remains poorly ...
Gabriel Cavin-Meza, Timothy J Mullen, Emily R Czajkowski, Ian D Wolff, Nikita S Divekar, Justin D Finkle, Sarah M Wignall   +6 more
doaj   +1 more source

Lysine demethylase 4A is a centrosome-associated protein required for centrosome integrity and genomic stability. [PDF]

FEBS J
KDM4A, a chromatin eraser, localizes to the centrosomes. Its demethylase activity is essential for maintaining centrosome number and integrity, independent of gene expression changes. Loss of KDM4A leads to centrosome amplification, pseudo‐bipolar spindle formation, and chromosome segregation errors, including micronuclei and chromatin bridges.
Chowdhury P, Wang X, Han RI, Motrapu M, Boice AG, Nakatani Y, Vargas-Hernandez S, Love JF, Chew C, Grimm SL, Mezquita D, Mason FM, Martinez ED, Coarfa C, Walker CL, Gustavsson AK, Dere R.   +16 more
europepmc   +2 more sources

MULTIPOLAR SPINDLE 1 (MPS1), a novel coiled-coil protein of Arabidopsis thaliana, is required for meiotic spindle organization. [PDF]

The Plant Journal, 2009
SummaryThe spindle is essential for chromosome segregation during meiosis, but the molecular mechanism of meiotic spindle organization in higher plants is still not well understood. Here, we report on the identification and characterization of a plant‐specific protein, MULTIPOLAR SPINDLE 1 (MPS1), which is involved in spindle organization in meiocytes ...
Hua Jiang, Fen-Fei Wang, Yu-Ting Wu, Xiaoping Zhou, Xue-Yong Huang, Jun Zhu, Ju Gao, Rui Dong, K. Cao, Zhongnan Yang   +9 more
semanticscholar   +3 more sources

Parental genomes segregate into distinct blastomeres during multipolar zygotic divisions leading to mixoploid and chimeric blastocysts

Genome Biology, 2022
Background During normal zygotic division, two haploid parental genomes replicate, unite and segregate into two biparental diploid blastomeres. Results Contrary to this fundamental biological tenet, we demonstrate here that parental genomes can segregate
Tine De Coster, Heleen Masset, Olga Tšuiko, Maaike Catteeuw, Yan Zhao, Nicolas Dierckxsens, Ainhoa Larreategui Aparicio, Eftychia Dimitriadou, Sophie Debrock, Karen Peeraer, Marta de Ruijter-Villani, Katrien Smits, Ann Van Soom, Joris Robert Vermeesch   +13 more
doaj   +1 more source

Astrin is required for the maintenance of sister chromatid cohesion and centrosome integrity [PDF]

, 2007
Faithful chromosome segregation in mitosis requires the formation of a bipolar mitotic spindle with stably attached chromosomes. Once all of the chromosomes are aligned, the connection between the sister chromatids is severed by the cysteine protease ...
Gruneberg, Ulrike, Kleylein-Sohn, Julia, Nigg, Erich A., Thein, Kerstin H.   +3 more
core   +3 more sources

CLASPs prevent irreversible multipolarity by ensuring spindle-pole resistance to traction forces during chromosome alignment

Nature Cell Biology, 2012
Loss of spindle-pole integrity during mitosis leads to multipolarity independent of centrosome amplification. Multipolar-spindle conformation favours incorrect kinetochore-microtubule attachments, compromising faithful chromosome segregation and daughter-cell viability. Spindle-pole organization influences and is influenced by kinetochore activity, but
Elsa Logarinho, Stefano Maffini, Marin Barišić, Andrea Marques, Alberto Toso, Patrick Meraldi, Hélder Maiato   +6 more
openalex   +6 more sources

A selective LIS1 requirement for mitotic spindle assembly discriminates distinct T-cell division mechanisms within the T-cell lineage

eLife, 2022
The ability to proliferate is a common feature of most T-cell populations. However, proliferation follows different cell-cycle dynamics and is coupled to different functional outcomes according to T-cell subsets.
Jérémy Argenty, Nelly Rouquié, Cyrielle Bories, Suzanne Mélique, Valérie Duplan-Eche, Abdelhadi Saoudi, Nicolas Fazilleau, Renaud Lesourne   +7 more
doaj   +1 more source

Ewing sarcoma protein ewsr1 maintains mitotic integrity and proneural cell survival in the zebrafish embryo. [PDF]

PLoS ONE, 2007
BACKGROUND:The Ewing sarcoma breakpoint region 1 gene (EWSR1), also known as EWS, is fused to a number of different partner genes as a result of chromosomal translocation in diverse sarcomas.
Mizuki Azuma, Lisa J Embree, Hatem Sabaawy, Dennis D Hickstein   +3 more
doaj   +1 more source

Induction of robust de novo centrosome amplification, high-grade spindle multipolarity and metaphase catastrophe: a novel chemotherapeutic approach [PDF]

Cell Death & Disease, 2012
Centrosome amplification (CA) and resultant chromosomal instability have long been associated with tumorigenesis. However, exacerbation of CA and relentless centrosome declustering engender robust spindle multipolarity (SM) during mitosis and may induce cell death. Recently, we demonstrated that a noscapinoid member, reduced bromonoscapine, (S)-3-(R)-9-
Vaishali Pannu, P C G Rida, Angela Ogden, Robert Clewley, Anthony Cheng, PRIYAMBADA KARNA, Manu Lopus, Ram Chandra Mishra, Jun Zhou, Ritu Aneja   +9 more
openalex   +3 more sources