Results 21 to 30 of about 2,646 (162)

Interaction Between Rec8 and Mis4 Is Required for Axis-Loop Chromatin Formation and Homologous Chromosome Recombination During Meiosis. [PDF]

Genes Cells
We identified a Mis4 cohesin loader mutant that is specifically defective in chromatin axis formation and homologous recombination while retaining normal sister chromatid cohesion. The mis4‐LR mutant, carrying the L1150S and R1159G amino acid substitutions, exhibited reduced interaction between Mis4 and Rec8, suggesting a meiosis‐specific role for the ...
Sakuno T, Murayama Y, Haraguchi T, Hiraoka Y.   +3 more
europepmc   +2 more sources

Dysregulation of NIPBL leads to impaired RUNX1 expression and haematopoietic defects [PDF]

Journal of Cellular and Molecular Medicine, 2020
AbstractThe transcription factor RUNX1, a pivotal regulator of HSCs and haematopoiesis, is a frequent target of chromosomal translocations, point mutations or altered gene/protein dosage. These modifications lead or contribute to the development of myelodysplasia, leukaemia or platelet disorders.
Mara Mazzola, Alex Pezzotta, Grazia Fazio, Alessandra Rigamonti, Erica Bresciani, Germano Gaudenzi, Maria Chiara Pelleri, Claudia Saitta, Luca Ferrari, Matteo Parma, Monica Fumagalli, Andrea Biondi, Giovanni Cazzaniga, Anna Marozzi, Anna Pistocchi   +14 more
openaire   +3 more sources

t(5;12)(p13;p13) NIPBL/ETV6 [PDF]

Atlas of Genetics and Cytogenetics in Oncology and Haematology, 2013
Review on t(5;12)(p13;p13) NIPBL/ETV6, with data on clinics, and the genes involved.
De, Braekeleer E, González, García JR, Soto, Padilla JM, Cordova, Fletes C, Morel, F, Douet-Guilbert, N, De, Braekeleer M   +6 more
openaire   +2 more sources

De novo NIPBL Mutations in Vietnamese Patients with Cornelia de Lange Syndrome

Medicina, 2020
Cornelia de Lange Syndrome (CdLS) is a rare congenital genetic disease causing abnormal unique facial phenotypes, several defects in organs and body parts, and mental disorder or intellectual disorder traits.
Duong Chi Thanh, Can Thi Bich Ngoc, Ngoc-Lan Nguyen, Chi Dung Vu, Nguyen Van Tung, Huy Hoang Nguyen   +5 more
doaj   +1 more source

Dissecting the functions of NIPBL using genome editing: The importance of the N-terminus of NIPBL in transcriptional regulation [PDF]

, 2019
ABSTRACT Cornelia de Lange syndrome (CdLS) is characterized by craniofacial dysmorphisms, intellectual disabilities, growth retardation, and several other systemic abnormalities. CdLS is caused by heterozygous germline mutations in structural and regulatory components of cohesin. Mutations in NIPBL
Izumi, Kosuke, Akiyama, Kazuhiro, Fujiki, Katsunori, Masuda, Koji, Nakato, Ryuichiro, Otsubo, Aiko, Bando, Masashige, Shirahige, Katsuhiko   +7 more
openaire   +1 more source

CTCF as a boundary factor for cohesin-mediated loop extrusion: evidence for a multi-step mechanism

Nucleus, 2020
Mammalian genome structure is closely linked to function. At the scale of kilobases to megabases, CTCF and cohesin organize the genome into chromatin loops.
Anders S. Hansen
doaj   +1 more source

The role of NIPBL during cardiac progenitor specification

Archives of Cardiovascular Diseases Supplements, 2020
Introduction Congenital heart disease can result from defects in the epigenetic events driving cardiogenesis. Little is currently known about the chromatin structural changes that occur in cardiac progenitors. We are focusing on the role of NIPBL, a cohesin complex loading partner that plays a key role in the regulation of chromatin structure, during ...
F. Boulet, A. Harrington, C. Jopling, T. Moore-Morris   +3 more
openaire   +1 more source

Molecular characterization of two novel intronic variants of NIPBL gene detected in unrelated Cornelia de Lange syndrome patients

BMC Medical Genetics, 2019
Background Cornelia de Lange syndrome (CdLS), a rare, multisystemic disorder, has been linked to genetic alterations in NIPBL, SMC1A, SMC3, HDAC8, and RAD21 genes. Approximately 60% of CdLS patients harbor various NIPBL variants.
Natalia Krawczynska, Jolanta Wierzba, Jacek Jasiecki, Bartosz Wasag   +3 more
doaj   +1 more source

Case Report: Prenatal Whole-Exome Sequencing to Identify a Novel Heterozygous Synonymous Variant in NIPBL in a Fetus With Cornelia de Lange Syndrome

Frontiers in Genetics, 2021
Cornelia de Lange syndrome (CdLS) is a genetically heterogeneous disorder characterized by a wide spectrum of abnormalities, including craniofacial dysmorphism, upper limb anomalies, pre- and post-natal growth restrictions, hirsutism and intellectual ...
Fengchang Qiao, Cuiping Zhang, Yan Wang, Gang Liu, Binbin Shao, Ping Hu, Zhengfeng Xu   +6 more
doaj   +1 more source

NIPBL+/− haploinsufficiency reveals a constellation of transcriptome disruptions in the pluripotent and cardiac states [PDF]

Scientific Reports, 2018
AbstractCornelia de Lange syndrome (CdLS) is a complex disorder with multiple structural and developmental defects caused by mutations in structural and regulatory proteins involved in the cohesin complex. NIPBL, a cohesin regulatory protein, has been identified as a critical protein responsible for the orchestration of transcriptomic regulatory ...
Mills, Jason A., Herrera, Pamela S, Kaur, Maninder, Leo, Lanfranco, McEldrew, Deborah, Tintos-Hernandez, Jesus A, Rajagopalan, Ramakrishnan, Gagne, Alyssa, Zhang, Zhe, Ortiz-Gonzalez, Xilma R., Krantz, Ian D.   +10 more
openaire   +4 more sources