Results 61 to 70 of about 236,633 (310)

Chromosome 15 Imprinting Disorders: Genetic Laboratory Methodology and Approaches

Frontiers in Pediatrics, 2020
Chromosome 15 imprinting disorders include Prader-Willi (PWS) and Angelman (AS) syndromes, which are caused by absent expression from the paternal and maternal alleles in the chromosome 15q11. 2–q13 region, respectively.
Merlin G. Butler, Jessica Duis
doaj   +1 more source

Reading and language disorders : the importance of both quantity and quality

, 2014
Reading and language disorders are common childhood conditions that often co-occur with each other and with other neurodevelopmental impairments. There is strong evidence that disorders, such as dyslexia and Specific Language Impairment (SLI), have a ...
Newbury, Dianne F, Paracchini, Silvia, Monaco, AP, Anthony Monaco, Monaco, Anthony P, Paracchini, S, Dianne Newbury, Silvia Paracchini, Newbury, DF   +8 more
core   +1 more source

IMPDH inhibition enhances cytarabine efficacy in SAMHD1‐expressing leukaemia cells via guanine nucleotide depletion

Molecular Oncology, EarlyView.
Cytarabine is a key therapy for acute myeloid leukaemia (AML), but its efficacy is limited by the dNTPase SAMHD1, which hydrolyses its active metabolite. Screening nucleotide biosynthesis inhibitors revealed that IMPDH inhibitors selectively sensitise SAMHD1‐proficient AML cells to cytarabine.
Miriam Yagüe‐Capilla, Christopher Dirks, Caroline Eiden, Sonja K. Fesenmayer, Femke M. Hormann, Yolande Klootsema, Ingrid Lilienthal, Si Min Zhang, Nikolas Herold, Sean G. Rudd   +9 more
wiley   +1 more source

Genetic association of CDC2 with cerebrospinal fluid tau in Alzheimer's disease [PDF]

, 2005
We have recently reported that a polymorphism in the cell division cycle (CDC2) gene, designated Ex6 + 7I/D, is associated with Alzheimer's disease (AD). The CDC2 gene is located on chromosome 10q21.1 close to the marker D10S1225 linked to AD.
Prince, J. A., Blennow, Kaj,, Zetterberg, H, Hampel, Harald, Zetterberg, H., Buerger, Katharina, Zetterberg, Henrik,, Wahlund, LO, Buerger, K., Hampel, H, Blennow, K, Wahlund, Lars-Olof, Minthon, L, Blennow, K., Hampel, H., Prince, Jonathan A., Minthon, L., Buerger, K, Johansson, A., Minthon, Lennart, Johansson, Annica,, Prince, JA, Minthon, Lennart,, Johansson, A   +23 more
core   +1 more source

MITF maintains genome stability in nonmelanocyte lineages

Molecular Oncology, EarlyView.
MITF is essential for melanocyte survival and acts as an oncogene in 10%–20% of melanomas. We show that MITF depletion causes genome instability in nonmelanocytic cells, leading to LATS2‐mediated P53 activation, cell cycle arrest, and apoptosis. This study highlights the role of MITF as a genome maintenance factor beyond the melanocyte lineage. Created
Drifa H. Gudmundsdottir, Adrián López García de Lomana, Thejus B. Venkatesh, Kritika Kirty, Snaevar Sigurdsson, Linda Vidarsdottir, Ramile Dilshat, Erla Sveinbjornsdottir, Snaedis Ragnarsdottir, Daniel H Magnusson, Maria R. Bustos, Eirikur Steingrimsson, Thorkell Gudjonsson, Stefan Sigurdsson   +13 more
wiley   +1 more source

Application of trio-based whole-exome sequencing in fetal ultrasound anomalies: a single-center retrospective study of 454 cases

Frontiers in Genetics
This study assessed the diagnostic effectiveness of trio-WES compared to CMA in fetuses with ultrasound anomalies and explored optimal prenatal testing strategies. A retrospective review included 454 fetuses who underwent trio-WES and/or CMA between 2020
Dongyi Yu, Dongyi Yu, Dongyi Yu, Dairong Feng, Dairong Feng, Dairong Feng, Jiangbo Qu, Jiangbo Qu, Jiangbo Qu, Lei Nie, Qian Liu, Lu Gao, Lu Gao, Lu Gao, Wenzhen An, Na Liu, Na Liu, Na Liu, Yuying Fang, Yuying Fang, Yuying Fang   +20 more
doaj   +1 more source

A comprehensive and universal approach for embryo testing in patients with different genetic disorders

Clinical and Translational Medicine, 2021
Background In vitro fertilization (IVF) with preimplantation genetic testing (PGT) has markedly improved clinical pregnancy outcomes for carriers of gene mutations or chromosomal structural rearrangements by the selection of embryos free of disease ...
Shuo Zhang, Caixia Lei, Junping Wu, Min Xiao, Jing Zhou, Saijuan Zhu, Jing Fu, Daru Lu, Xiaoxi Sun, Congjian Xu   +9 more
doaj   +1 more source

Disorders caused by chromosome abnormalities

The Application of Clinical Genetics, 2010
Many human genetic disorders result from unbalanced chromosome abnormalities, in which there is a net gain or loss of genetic material. Such imbalances often disrupt large numbers of dosage-sensitive, developmentally important genes and result in specific and complex phenotypes.
Theisen,Aaron, Shaffer,Lisa
openaire   +4 more sources

Differences in the localization and morphology of chromosomes in the human nucleus [PDF]

, 1999
Using fluorescence in situ hybridization we show striking differences in nuclear position, chromosome morphology, and interactions with nuclear substructure for human chromosomes 18 and 19.
Perry, P, Wendy A. Bickmore, Boyle, S, Bridger, JM, Bickmore, W A, Jenny A. Croft, Bridger, J M, Paul Perry, Croft, J A, Shelagh Boyle, Croft, J, Bickmore, WA, Joanna M. Bridger, Peter Teague, Teague, P   +14 more
core   +1 more source

Automated FRAP microscopy for high‐throughput analysis of protein dynamics in chromatin organization and transcription

FEBS Open Bio, EarlyView.
RoboMic is an automated confocal microscopy pipeline for high‐throughput functional imaging in living cells. Demonstrated with fluorescence recovery after photobleaching (FRAP), it integrates AI‐driven nuclear segmentation, ROI selection, bleaching, and analysis.
Selçuk Yavuz, Bart Geverts, Johan A. Slotman, Andrea Sacchetti, Stefan Prekovic, Martin E. van Royen, Adriaan B. Houtsmuller   +6 more
wiley   +1 more source