Results 41 to 50 of about 452,570 (334)

Reciprocal translocations: tracing their meiotic behavior [PDF]

Genetics in Medicine, 2008
Segregation and interchromosomal effect studies have been performed in reciprocal translocation carriers by sperm-fluorescent in situ hybridization reporting a great heterogeneity. The divergences have been attributed to the particular cytogenetic characteristics of each rearrangement.
Ester, Anton, Francesca, Vidal, Joan, Blanco   +2 more
openaire   +2 more sources

Prenatal Diagnosis and Molecular Cytogenetic Characterization of a Small Supernumerary Marker Chromosome Derived from Chromosome 18 and Associated With a Reciprocal Translocation Involving Chromosomes 17 And 18

Taiwanese Journal of Obstetrics & Gynecology, 2010
Objective: Prenatal diagnosis of small supernumerary marker chromosomes (sSMC) gives rise to difficulties in genetic counseling, and requires molecular cytogenetic technologies such as spectral karyotyping, fluorescence in situ hybridization, multicolor ...
Chih-Ping Chen, Chyi-Chyang Lin, Yi-Ning Su, Fuu-Jen Tsai, Ju-Ting Chen, Schu-Rern Chern, Chen-Chi Lee, Dai-Dyi Town, Li-Feng Chen, Pei-Chen Wu, Wayseen Wang   +10 more
doaj   +1 more source

Complex Variant t(9;22) Chromosome Translocations in Five Cases of Chronic Myeloid Leukemia

Advances in Hematology, 2009
The Philadelphia (Ph1) chromosome arising from the reciprocal t(9;22) translocation is found in more than 90% of chronic myeloid leukemia (CML) patients and results in the formation of the chimeric fusion gene BCR-ABL.
Ana Valencia, José Cervera, Esperanza Such, Eva Barragán, Pascual Bolufer, Oscar Fuster, Rosa Collado, Jesús Martínez, Miguel A. Sanz   +8 more
doaj   +1 more source

PGT-SR: A Comprehensive Overview and a Requiem for the Interchromosomal Effect

DNA, 2023
Preimplantation genetic testing for structural rearrangements (PGT-SR) was one of the first applications of PGT, with initial cases being worked up in the Delhanty lab.
Darren K. Griffin, Cagri Ogur
doaj   +1 more source

Kinetic Analysis of Zinc/Cadmium Reciprocal Competitions Suggests a Possible Zn-Insensitive Pathway for Root-to-Shoot Cadmium Translocation in Rice

Rice, 2016
Among cereals, rice has a genetic propensity to accumulate high levels of cadmium (Cd) in grains. Xylem-mediated root-to-shoot translocation rather than root uptake has been suggested as the main physiological factor accounting for the genotypic ...
L. Fontanili, C. Lancilli, N. Suzui, B. Dendena, Yong-Gen Yin, A. Ferri, S. Ishii, N. Kawachi, G. Lucchini, S. Fujimaki, G. Sacchi, F. Nocito   +11 more
semanticscholar   +1 more source

Characteristics and clinical evaluation of X chromosome translocations

Molecular Cytogenetics, 2023
Background Individuals with X chromosomal translocations, variable phenotypes, and a high risk of live birth defects are of interest for scientific study.
Ning Huang, Jihui Zhou, Wan Lu, Laipeng Luo, Huizhen Yuan, Lu Pan, Shujun Ding, Bicheng Yang, Yanqiu Liu   +8 more
doaj   +1 more source

De novo translocation heterozygote with three reciprocal translocations. [PDF]

Journal of Medical Genetics, 1983
An extremely rare case of a child with three balanced reciprocal translocations involving six different autosomes is described. These abnormalities have apparently arisen de novo and seem to have only relatively minor phenotypic effects. The meiotic possibilities are discussed and cytogenetic markers suggest that the damage may have occurred in a ...
J L, Watt, D A, Couzin
openaire   +2 more sources

The role of histone modifications in transcription regulation upon DNA damage

FEBS Letters, EarlyView.
This review discusses the critical role of histone modifications in regulating gene expression during the DNA damage response (DDR). By modulating chromatin structure and recruiting repair factors, these post‐translational modifications fine‐tune transcriptional programmes to maintain genomic stability.
Angelina Job Kolady, Siyao Wang
wiley   +1 more source

Cell density–dependent nuclear‐cytoplasmic shuttling of SETDB1 integrates with Hippo signaling to regulate YAP1‐mediated transcription

FEBS Letters, EarlyView.
At low cell density, SETDB1 and YAP1 accumulate in the nucleus. As cell density increases, the Hippo pathway is gradually activated, and SETDB1 is associated with increased YAP1 phosphorylation. At high cell density, phosphorylated YAP1 is sequestered in the cytoplasm, while SETDB1 becomes polyubiquitinated and degraded by the ubiquitin–proteasome ...
Jaemin Eom, Jaewoong Jang, Jung Sun Park, Yong‐Kook Kang   +3 more
wiley   +1 more source

Integrated genomic and proteomic profiling reveals insights into chemoradiation resistance in cervical cancer

Molecular Oncology, EarlyView.
A comprehensive genomic and proteomic analysis of cervical cancer revealed STK11 and STX3 as a potential biomarkers of chemoradiation resistance. Our study demonstrated EGFR as a therapeutic target, paving the way for precision strategies to overcome treatment failure and the DNA repair pathway as a critical mechanism of resistance.
Janani Sambath, Irene A. George, Srikanth S. Manda, Prasanth Ariyannur, Ekta R. Dhawale, Raja Sekhar Kommu, Rajan Datar, Darshana Patil, Vinita Trivedi, Manisha Singh, Kumar Prabhash, Sewanti Limaye, Richa Chauhan, Prashant Kumar   +13 more
wiley   +1 more source