Results 71 to 80 of about 1,000,004 (376)

Genetic analysis and prenatal diagnosis of a pedigree with developmental retardation due to paternal 8q/18q translocation

Clinical Case Reports, 2023
Key Clinical Message Balanced reciprocal chromosomal translocation carriers will have greater risk to experience recurrent miscarriages, embryonic death, and infertility. We show the pedigree carrying a paternal karyotype which was reported first.
Chunyan Jin, Xuefang Li, Jiao Chen, Zhiping Gu, Tianhui Xu   +4 more
doaj   +1 more source

Case Report: Balanced Reciprocal Translocation t (17; 22) (p11.2; q11.2) and 10q23.31 Microduplication in an Infertile Male Patient Suffering From Teratozoospermia

Frontiers in Genetics, 2022
Two chromosomal abnormalities are described in an infertile man suffering from teratozoospermia: balanced reciprocal translocation t (17; 22) (p11.2; q11.2) and a microduplication in the region 10q23.31.
Shan Huang, Huiling Wu, Yunwei Qi, Liqiang Wei, Xiaodan Lv, Yu He   +5 more
doaj   +1 more source

Seven-fluorochrome mouse M-FISH for high-resolution analysis of interchromosomal rearrangements [PDF]

, 2003
The mouse has evolved to be the primary mammalian genetic model organism. Important applications include the modeling of human cancer and cloning experiments. In both settings, a detailed analysis of the mouse genome is essential.
Geigl, J., Jentsch, I., Klein, C. A., Speicher, M. R.   +3 more
core   +1 more source

YAP1::TFE3 mediates endothelial‐to‐mesenchymal plasticity in epithelioid hemangioendothelioma

Molecular Oncology, EarlyView.
The YAP1::TFE3 fusion protein drives endothelial‐to‐mesenchymal transition (EndMT) plasticity, resulting in the loss of endothelial characteristics and gain of mesenchymal‐like properties, including resistance to anoikis, increased migratory capacity, and loss of contact growth inhibition in endothelial cells.
Ant Murphy, Samuel Hartzler, Paula A. Vargas Carranza, Shyaman Jayasundara, Madison E. Yates, Nimod D. Janson, Bozhi Liu, Annaleigh Benton, Majid Kazemian, Jason A. Hanna   +9 more
wiley   +1 more source

Balanced Chromosomal Translocations of Parents in Relation to Spontaneous Abortions [PDF]

Journal of Sciences, Islamic Republic of Iran, 2005
The most significant complication of pregnancy is recurrent miscarriage. Numerous factors have been described as associations with recurrent wastage such as: uterine abnormalities, immunological factors, endocrinologic imbalance and chromosomal defects ...
doaj  

Sex chromosomal dimorphisms narrated by X-chromosome translocation in a spiny frog (Quasipaa boulengeri)

Frontiers in Zoology, 2018
Background In the general model of sex chromosome evolution for diploid dioecious organisms, the Y (or W) chromosome is derived, while the homogametic sex presumably represents the ancestral condition.
Xiuyun Yuan, Yun Xia, Xiaomao Zeng
doaj   +1 more source

Dual targeting of RET and SRC synergizes in RET fusion‐positive cancer cells

Molecular Oncology, EarlyView.
Despite the strong activity of selective RET tyrosine kinase inhibitors (TKIs), resistance of RET fusion‐positive (RET+) lung cancer and thyroid cancer frequently occurs and is mainly driven by RET‐independent bypass mechanisms. Son et al. show that SRC TKIs significantly inhibit PAK and AKT survival signaling and enhance the efficacy of RET TKIs in ...
Juhyeon Son, Lily L. Remsing Rix, Bin Fang, Eric A. Welsh, Nicole V. Bremer, Valentina Foglizzo, Paola Roa, Nickole Sigcha‐Coello, Yi Liao, Eric B. Haura, Alexander Drilon, John M. Koomen, Emiliano Cocco, Uwe Rix   +13 more
wiley   +1 more source

A feasible strategy of preimplantation genetic diagnosis for carriers with chromosomal translocation: Using blastocyst biopsy and array comparative genomic hybridization

Journal of the Formosan Medical Association, 2013
Patients with chromosomal translocation are highly vulnerable to produce unbalanced gametes that result in recurrent miscarriages, affected offspring, or infertility.
Chu-Chun Huang, Li-Jung Chang, Yi-Yi Tsai, Chia-Cheng Hung, Mei-Ya Fang, Yi-Ning Su, Hsin-Fu Chen, Shee-Uan Chen   +7 more
doaj   +1 more source

A balanced chromosomal translocation disrupting ARHGEF9 is associated with epilepsy, anxiety, aggression, and mental retardation

Human Mutation, 2009
Clustering of inhibitory γ‐aminobutyric acidA (GABAA) and glycine receptors at synapses is thought to involve key interactions between the receptors, a “scaffolding” protein known as gephyrin and the RhoGEF collybistin.
V. Kalscheuer, L. Musante, Cheng Fang, K. Hoffmann, C. Fuchs, E. Carta, E. Deas, K. Venkateswarlu, C. Menzel, R. Ullmann, N. Tommerup, L. Dalprà, A. Tzschach, A. Selicorni, B. Lüscher, H. Ropers, K. Harvey, R. Harvey   +17 more
semanticscholar   +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