Results 81 to 90 of about 36,631 (311)

Diversity of sex chromosome abnormalities in a cohort of 95 Indonesian patients with monosomy X

Molecular Cytogenetics, 2011
Background Monosomy × or 45,X is a cytogenetic characteristic for Turner syndrome. This chromosome anomaly is encountered in around 50% of cases, but wide variations of other anomalies have been found.
Kartapradja Hannie, Paramayuda Chrysantine, Ambarwati Debby D, Suciati Lita P, Anggaratri Helena W, Marzuki Nanis S, Pulungan Aman B, Harahap Alida   +7 more
doaj   +1 more source

Chromosomal anomalies and infertility in farm animals: a review [PDF]

, 2014
Veterinary cytogenetics is an area of genetics that deals with normal or abnormal chromosomes of animals. Chromosome abnormalities in cattle can cause significant adverse effects on fertility through failure of production of viable gametes or early ...
Yimer, Nurhusien, Yusoff, Rosnina
core  

Nuclear abnormalities in aspirated thyroid cells and chromosome aberrations in lymphocytes of residents near the Semipalatinsk Nuclear Test Site [PDF]

, 2006
Chromosomal studies in peripheral lymphocytes from 63 residents near the Semipalatinsk nuclear test site, at ages of 52–63 years old, were performed in 2001–2002.
Apsalikov, Kazbek N., Chaizhunusova, Nailya, Endo, Satoru, Harada, Yuka, Hoshi, Masaharu, Iida, Shozo, Inaba, Toshiya, Noso, Yoshihiro, Takeichi, Nobuo, Tanaka, Kenichi, Tanaka, Kimio, Zhumadilov, Zhaxybay   +11 more
core   +1 more source

SETD1A Regulates Glycolysis and Senescence of Nucleus Pulposus Cells via H3K4me3–HELZ2/PPARα‐HIF1α Axis to Drive Intervertebral Disc Degeneration

Advanced Science, EarlyView.
SETD1A is a key epigenetic regulator in NPCs during IDD. In normal NPCs, it sustains H3K4me3–HELZ2/PPARα–HIF1α signaling to maintain glycolytic energy metabolism and proliferation. In degenerated NPCs, reduced SETD1A disrupts this axis, impairing glycolysis and accelerating senescence, highlighting a promising therapeutic target for IDD.
Jiawei Fu, Xue Leng, Jiang Long, Zhengao Liao, Xiaoqin An, Xuezheng Ai, Dan Long, Changqing Li, Bo Huang, Yue Zhou, Shiwu Dong, Chencheng Feng   +11 more
wiley   +1 more source

Maternal age and the risk of fetal aneuploidy: A nationwide cohort study of more than 500 000 singleton pregnancies in Denmark from 2008 to 2017

Acta Obstetricia et Gynecologica Scandinavica
Introduction In this register‐based study of pregnancies in Denmark, we assessed the associations between maternal age and the risk of fetal aneuploidies (trisomy 21, trisomy 18, trisomy 13, triploidy, monosomy X and other sex chromosome aberrations ...
Line Elmerdahl Frederiksen, Sofie Møller Ølgaard, Laura Roos, Olav Bjørn Petersen, Line Rode, Tanja Hartwig, Charlotte Kvist Ekelund, the Danish Central Cytogenetics Registry Study Group, Ida Vogel   +8 more
doaj   +1 more source

Delineation of individual human chromosomes in metaphase and interphase cells by in situ suppression hybridization using recombinant DNA libraries [PDF]

, 1988
A method of in situ hybridization for visualizing individual human chromosomes from pter to qter, both in metaphase spreads and interphase nuclei, is reported.
B Trask, C Cremer, D Pinkel, D Pinkel, D. C. Ward, DA Agard, DJ Brigati, DJ Finney, GA Rappold, GD Johnson, GJ Brakenhoff, H Hamada, HE McDermid, HJ Cooke, J. Borden, JE Landegent, JG White, JR Gosden, JS Waye, L Hens, L Manuelidis, L Manuelidis, L Manuelidis, L Manuelidis, L Manuelidis, L. Manuelidis, LG Davis, M Schardin, MA Dilla Van, ML Mendelsohn, P. Lichter, PG Sealey, PR Langer, RJ Britten, T Cremer, T Cremer, T Cremer, T Cremer, T Maniatis, T. Cremer   +39 more
core   +1 more source

Paternal Caffeine Exposure Programs Offspring Stress Vulnerability via Sperm Dlk1‐Dio3 Imprinting‐Directed Remodeling of a Novel Neural Circuit

Advanced Science, EarlyView.
The study elucidates that paternal preconception stress can drive offspring hyperresponsivity of the stress system via hypomethylation of a specific DNA region in sperm. This key link is confirmed in a cohort of prospective fathers: the epigenetic alteration is associated with elevated stress hormone levels.
Mengxi Lu, Gaole Dai, Sen Zhu, Shuai Zhang, Tingting Wang, Yuan Meng, Fang Yang, Xiaoyi Han, Hui Wang, Hao Kou, Dan Xu   +10 more
wiley   +1 more source

Telomere protein complexes and their role in lymphoid malignancies [PDF]

, 2017
Telomeres are highly regulated and dynamic complexes that protect the genomic DNA and prevent the end of linear chromosomes from being misrecognized as a broken DNA.
Dos Santos, Patricia Carolina, Panero, Julieta, Slavutsky, Irma Rosa   +2 more
core  

Molecular monitoring of minimal residual disease in two patients with MLL-rearranged acute myeloid leukemia and haploidentical transplantation after relapse [PDF]

, 2012
This report describes the clinical courses of two acute myeloid leukemia patients. Both had MLL translocations, the first a t(10;11)(p11.2;q23) with MLL-AF10 and the second a t(11;19)(q23;p13.1) with MLL-ELL fusion.
Beyer, Jörg, Blau, Igor Wolfgang, Burmeister, Thomas, Friedrichs, Birte, Lachmann, Nils, Lohm, Gunnar, Marschalek, Rolf, Meyer, Claus, Molkentin, Mara, Schwartz, Stefan, Tietze-Bürger, Carola, Uharek, Lutz   +11 more
core   +1 more source

A Non‐Canonical Role of SMAD4 in Regulating 3D Genome Architecture to Inhibit Lung Squamous Cell Carcinoma Development

Advanced Science, EarlyView.
SMAD4 is identified as a guardian of 3D genome architecture in lung squamous cell carcinoma. Loss of SMAD4 unleashes EP300 at chromatin loop anchors, strengthening enhancer–promoter looping and H3K27ac at the SOX2 locus to drive aberrant SOX2 activation and tumor cell proliferation.
Qian Tang, Chen Lian, Xinyan Han, Xuhan Zhang, Zihan Wang, Boyu Wang, Taoyu Zhu, Xinrui Lin, Xiaolei Wang, Yaping Xu, Manyu Xiao, Zijin Wang, Junming Li, Silin Chen, Yunze Wang, Yufei Liu, Songsong Li, Zuolin Shen, Xi Lu, Xueqi Han, Yilu Zhou, Mingyang Xiao, Jiayi Ran, Xiaoran Cao, Xinyi Xu, Hugo Sámano‐Sánchez, Alfredo Rodríguez, Lian Wang, Shuifang Chen, Zhanyu Xu, Shirong Zhang, Nuo Yang, Yong Tang, Jian Liu   +33 more
wiley   +1 more source