Results 71 to 80 of about 2,432,280 (329)

Male infertility and cytogenetics

Journal of Marine Medical Society, 2013
Genetic factors are found to play a major role in male infertility. Inf act, it has been suggested that a linear correlation exists between seminal defects and chromosomal abnormalities.
Pankaj Talwar, Bhavni Oberoi, Rana Bhim Sen, Sushil Kumar   +3 more
doaj   +1 more source

A 57‐Year‐Old Male With Behavioral Variant Frontotemporal Dementia and MATR3 and NOS3 Mutations

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT This report presents a case of behavioral variant frontotemporal dementia caused by mutations in the MATR3 and NOS3 genes, aiming to analyze its clinical manifestations and genetic characteristics. For a case presenting with personality changes and gait abnormalities as the initial symptoms, this study conducted a comprehensive analysis of its
Feifei Lin, Saie Huang
wiley   +1 more source

Recent progress in identifying genetic and epigenetic contributions to epilepsy

Reproductive and Developmental Medicine, 2017
Epilepsy is a serious disorder of the central nervous system characterized by recurrent seizures. There are many known causes of epilepsy, including genetic factors, brain damage, and environmental factors, but the pathogenic mechanisms are largely ...
Zi-Ying Hu, Hong-Yan Wang, Yi Wang
doaj   +1 more source

Retrospective Evaluation of Amniocentesis Cases

Gynecology Obstetrics & Reproductive Medicine, 2009
OBJECTIVE: The aim of this study is to evaluate retrospectively the indications, karyotype results and complications of amniocentesis that we performed in our clinic.
Ayhan Coşkun, Deniz Cemgil Arıkan, Gürkan Kıran, Melih Atahan Güven, Bülent Köstü, Sedar Ceylaner   +5 more
doaj  

Chromosomal Instability Drives Glioblastoma Heterogeneity and Therapeutic Opportunities

Advanced Science, EarlyView.
ABSTRACT Glioblastoma, the most aggressive and lethal form of brain cancer, is defined by profound genomic instability, with Chromosomal Instability (CIN) playing a central role in driving tumor progression, therapy resistance, and poor prognosis. CIN is characterized by numerical and structural alterations, is driven by mechanisms such as mitotic ...
Amarnath Pal, Milan Patra, Rianita Mondal, Shubhasis Haldar   +3 more
wiley   +1 more source

Nuclear organisation of sperm remains remarkably unaffected in the presence of defective spermatogenesis [PDF]

, 2011
Organisation of chromosome territories in interphase nuclei has been studied in many systems and positional alterations have been associated with disease phenotypes (e.g. laminopathies, cancer) in somatic cells.
Ellis, Michael, Dimitris Ioannou, Meershoek, Eric J., Dimitra Christopikou, Eric J. Meershoek, Thornhill, Alan R., Michael Ellis, Darren Karl Griffin, Ioannou, Dimitris, Christopikou, Dimitra, Griffin, Darren K., Alan R. Thornhill   +11 more
core   +1 more source

Unraveling the Molecular Mechanisms Underlying Spontaneous Multipolar Mitosis Through CIN‐seq

Advanced Science, EarlyView.
Multipolar mitosis, a hallmark of chromosomal instability (CIN), drives tumor heterogeneity but is challenging to study in live cells. Using CIN‐seq, a single‐cell multiomics method, we profiled rare CIN events and identified mechanisms associated with viable multipolar mitosis, including PTEN attenuation, Rho GTPase‐driven cytokinesis failure, and ...
Pin‐Rui Su, Ting‐Chun Chou, Maria Teresa López‐Cascales, Junfeng Huang, Tsai‐Ying Chen, Sjoukje van Wieren, Chan Li, Cecile Beerens, Li You, Jelle Storteboom, Miao‐Ping Chien   +10 more
wiley   +1 more source

Fluorescence In Situ Hybridization on Early Porcine Embryos [PDF]

, 2010
Insight into the normal and abnormal function of an interphase nucleus can be revealed by using fluorescence in situ hybridization (FISH) to determine chromosome copy number and/or the nuclear position of loci or chromosome territories.
Sturmey, Roger G., Paula J. Stokes, Foster, Helen A., Bridger, Joanna M., Henry J. Leese, Leese, Henry J., Roger G. Sturmey, Joanna M. Bridger, Darren K. Griffin, Helen A. Foster, Griffin, Darren K., Stokes, Paula J.   +11 more
core   +1 more source

A rare case of acute myeloid leukemia with t(12;19)(q13;q13)

Leukemia Research Reports, 2020
Acute myeloid leukemia (AML) is characterized by chromosomal abnormalities affecting both prognosis and course of treatment. While most AML patients have well described chromosomal aberrations, around 10% present with rare chromosomal abnormalities.We ...
Alain Chebly, Fady Gh Haddad, Josiane Bassil, Tony Yammine, Rima Korban, Warde Semaan, Fady El Karak, Hampig Raphael Kourie, Chantal Farra   +8 more
doaj   +1 more source

Zinc Exposure Causes Disulfidptosis to Induce Miscarriage by Up‐Regulating GATA1/METTL1/SLC7A11 Axis

Advanced Science, EarlyView.
Zn exposure up‐regulates GATA1, promoting GATA1‐mediated METTL1 and SLC7A11 transcription. It also enhances METTL1‐mediated m7G modification on SLC7A11 mRNA, increasing SLC7A11 mRNA stability. Ultimately, Zn exposure up‐regulates SLC7A11 at both transcriptional and post‐transcriptional levels, causing disulfidptosis. Knockdown of murine Slc7a11, Gata1,
Wenxin Huang, Yi Sun, Yanxin Wang, Haijun Yan, Xiaoping Yue, Weidong Wu, Xueyu Chen, Jinfang Zhang, Yanbing Lin, Qiong Lei, Nan Ji, Shuaishuai Xing, Liqin Zeng, Qingzheng Kang, Depeng Zhao, Geng Guo, Huidong Zhang   +16 more
wiley   +1 more source