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Cellular and genomic approaches for exploring structural chromosomal rearrangements.
Chromosome Res
March 2020
Department of Pathology, Department of Cell Biology, Harold C. Simmons Comprehensive Cancer Center, University of Texas Southwestern Medical Center, Dallas, TX, USA.
Human chromosomes are arranged in a linear and conserved sequence order that undergoes further spatial folding within the three-dimensional space of the nucleus. Although structural variations in this organization are an important source of natural genetic diversity, cytogenetic aberrations can also underlie a number of human diseases and disorders. Approaches for studying chromosome structure began half a century ago with karyotyping of Giemsa-banded chromosomes and has now evolved to encompass high-resolution fluorescence microscopy, reporter-based assays, and next-generation DNA sequencing technologies.
View Article and Find Full Text PDFDynamic Bcl-xL (S49) and (S62) Phosphorylation/Dephosphorylation during Mitosis Prevents Chromosome Instability and Aneuploidy in Normal Human Diploid Fibroblasts.
PLoS One
July 2017
Centre de recherche, Centre hospitalier de l'Université de Montréal (CRCHUM), Montreal, Québec, Canada.
Bcl-xL proteins undergo dynamic phosphorylation/dephosphorylation on Ser49 and Ser62 residues during mitosis. The expression of Bcl-xL(S49A), (S62A) and dual (S49/62A) phosphorylation mutants in tumor cells lead to severe mitotic defects associated with multipolar spindle, chromosome lagging and bridging, and micro-, bi- and multi-nucleated cells. Because the above observations were made in tumor cells which already display genomic instability, we now address the question: will similar effects occur in normal human diploid cells? We studied normal human diploid BJ foreskin fibroblast cells expressing Bcl-xL (wild type), (S49A), (S49D), (S62A), (S62D) and the dual-site (S49/62A) and (S49/62D) mutants.
View Article and Find Full Text PDFClinical, cytogenetic and molecular analysis of androgen insensitivity syndromes from south Indian cohort and detection and in-silico characterization of androgen receptor gene mutations.
Clin Chim Acta
January 2016
Institute of Obstetrics and Gynecology, Madras Medical College, Government Hospital for Women and Children, Egmore, Chennai 600 008, Tamil Nadu, India.
Rare cases of 9 complete androgen insensitivity syndromes, 9 cases of partial androgen insensitivity syndromes and equal number of male control samples were selected for this study. Few strong variations in clinical features were noticed; Giemsa banded metaphase revealed a 46,XY karyotype and the frequency of chromosome aberrations were significantly higher when compared with control samples. DNA sequence analysis of the androgen receptor gene of androgen insensitivity syndromes revealed three missense mutations - c.
View Article and Find Full Text PDFPrenatal diagnosis of a de novo 9p terminal chromosomal deletion in a fetus with major congenital anomalies.
Taiwan J Obstet Gynecol
December 2014
Department of Obstetrics and Gynecology, Tri-Service General Hospital, National Defense Medical Center, Taipei, Taiwan. Electronic address:
Objective: We describe a prenatal ultrasonography diagnosis of omphalocele and symbrachydactyly in a fetus and review the literature on prenatal diagnosis of 9p terminal chromosomal deletions.
Case Report: A 31-year-old woman (gravida 3, para 1) was referred for genetic counseling because a fetal omphalocele had been detected. Prenatal ultrasonography at 17+ weeks of gestational age revealed a singleton female fetus with biometry equivalent to 18 weeks with an omphalocele.
[Screening of azoospermia factor microdeletions on Y chromosome in infertile men by QF-PCR].
Yi Chuan
June 2014
Department of Clinical Genetics, Shengjing Hospital, China Medical University, Shenyang 110004, China.
To assess the application of quantitative fluorescent polymerase chain reaction (QF-PCR) on rapid screening of azoospermia factor (AZF) microdeletions, 1218 infertile men with non-obstructive azoospermia or oligospermia were detected for 9 sequence tagged sites (STSs) in AZF region by multiplex QF-PCR combined with capillary electrophoresis. AMEL (amelogenin) as well as SRY (sex-determining region of Y chromosome) located on short arm of sex chromosome was selected as internal control. Karyotyping was performed on Giemsa-banded metaphase chromosomes of peripheral blood lymphocytes.
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