Inheritance of ring chromosomes is reported infrequently. We report on a mother and her son both with a ring 18 chromosome, and describe the associated manifestations. The son had microcephaly, ptosis, short stature, and mental retardation; the mother was mentally retarded and had a similar facial appearance.
Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.1002/ajmg.1320240121 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
The γ-tubulin ring complex (γ-TuRC) acts as a structural template for microtubule formation at centrosomes, associating with two main compartments: the pericentriolar material and the centriole lumen. In the pericentriolar material, the γ-TuRC is involved in microtubule organization, while the function of the centriole lumenal pool remains unclear. The conformational landscape of the γ-TuRC, which is crucial for its activity, and its centrosomal anchoring mechanisms, which determine γ-TuRC activity and turnover, are not understood.
View Article and Find Full Text PDFCohesin mutations and chromatin changes in cancer.
Int J Cancer
March 2025
Department of Medical Oncology, Dana-Farber Cancer Institute, Boston, Massachusetts, USA.
The identification of recurrent mutations in genes encoding the cohesin complex in cancer was among the most unexpected findings from cancer exome sequencing studies. Cohesin is a multi-subunit protein complex that is essential for sister chromatid cohesion, three-dimensional chromosome organization, DNA damage repair, and gene regulation. It forms a ring around DNA, with four structural subunits, SMC1A, SMC3, RAD21, and either STAG1 or STAG2.
View Article and Find Full Text PDFFine mapping of stripe rust resistance gene YrAn1589 in common wheat using Wheat660K SNP array and BSR-Seq.
Theor Appl Genet
March 2025
Key Laboratory of Wheat Biology and Genetic Improvement On Southern Yellow and Huai River Valley, Ministry of Agriculture and Rural Affairs, College of Agronomy, Anhui Agricultural University, Hefei, 230036, China.
A new stripe rust resistance gene YrAn1589 in Chinese wheat Annong1589 was mapped to a 160.9-166.6 kb interval on chromosome arm 3BL and co-segregated with a marker CAPS9 developed from candidate gene TraesCS3B03G1054600.
View Article and Find Full Text PDFNuclear stiffness through lamin A/C overexpression differentially modulates chromosomal instability biomarkers.
Biol Cell
February 2025
Departament de Biomedicina, Facultat de Medicina i Ciències de la Salut, Universitat de Barcelona, Barcelona, Spain.
Background Information: Mitosis is crucial for the faithful transmission of genetic material, and disruptions can result in chromosomal instability (CIN), a hallmark of cancer. CIN is a known driver of tumor heterogeneity and anti-cancer drug resistance, thus highlighting the need to assess CIN levels in cancer cells to design effective targeted therapy. While micronuclei are widely recognized as CIN markers, we have recently identified the toroidal nucleus, a novel ring-shaped nuclear phenotype arising as well from chromosome mis-segregation.
View Article and Find Full Text PDFComplete genome sequence of Alteromonas marina OM2201, a marine bacterium degrading Ulva prolifera polysaccharides isolated from surface of the Yellow Sea.
Mar Genomics
April 2025
College of Marine Life Sciences, and Frontiers Science Center for Deep Ocean Multispheres and Earth System, Ocean University of China, Qingdao 266003, China. Electronic address:
As a consequence of marine eutrophication, there has been an exponential growth of Ulva prolifera, culminating in the yearly emergence of a massive green tide along the shores of Qingdao. This phenomenon exerts a detrimental impact on the marine ecosystem. As reported, the expression level of Alteromonas enzymes involved in U.
View Article and Find Full Text PDFWant AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!