Results 61 to 70 of about 237,429 (310)

Investigating transcription factor dynamics in health and disease using FRAP

FEBS Letters, EarlyView.
FRAP analysis of GFP‐tagged transcription factors reveals how molecular mobility and target engagement change in response to drug treatment. By combining live‐cell imaging, quantitative model fitting, and statistical analysis, this approach uncovers transcription factor dynamics linked to disease mechanisms, providing a powerful framework for ...
Kannan Govindaraj, Carolina Vazquez Garzon, Jose Joaquin Velasco, Janine N. Post   +3 more
wiley   +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

Tumour–host interactions in Drosophila: mechanisms in the tumour micro‐ and macroenvironment

Molecular Oncology, EarlyView.
This review examines how tumour–host crosstalk takes place at multiple levels of biological organisation, from local cell competition and immune crosstalk to organism‐wide metabolic and physiological collapse. Here, we integrate findings from Drosophila melanogaster studies that reveal conserved mechanisms through which tumours hijack host systems to ...
José Teles‐Reis, Tor Erik Rusten
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

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

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

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

Functional and molecular effects of chromosome 21 trisomy [PDF]

, 2010
Down Syndrome (DS) is the most frequent autosomal aneuploidy that is compatible with post-natal life. The DS phenotype has been attributed to overexpression of chromosome 21 (Hsa21) genes.
Izzo, Antonella
core  

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

The spectrum and prevalence of genetic pathology among children and adolescents of the northern districts of kharkiv region

Актуальні проблеми сучасної медицини, 2019
The spectrum and prevalence of genetic pathology among the population of a certain region are determined by the founder effect and microevolution factors and, therefore, are not always comparable in different countries.
Olena Fedota, Iurii Sadovnychenko, Mykola Hryshchenko, Kostiantyn Tyshchenko, Yana Hryshchenko
doaj