A historical perspective on Lionel Penrose: Scientist, geneticist and dedicated opponent of eugenics
Abstract The paper explores Lionel Penrose's scientific work. Penrose investigated the causes of mental disorders from clinical and genetic points of view. His investigations on phenylketonuria and Down syndrome helped to demonstrate the heterogenous character of mental disorders, whose causes can range from genetic with high penetrance, to largely ...
Maria Kiladi
wiley +1 more source
Sgo1 interacts with CENP-A to guide accurate chromosome segregation in mitosis. [PDF]
Wu F+12 more
europepmc +1 more source
Persistence of Ancestral KhoeSan Mitochondrial Patterns in Contemporary South African Populations
Abstract Introduction Southern Africa has been inhabited by hunter‐gatherers for at least 20,000 years and has received diverse immigration flows in the last 2000 years. The original inhabitants have interacted with the pastoralist migrants from Eastern Africa (∼2000 ybp), followed by the southern Bantu migration arriving some 1000 ybp, and more ...
Maria Eugenia D'Amato+7 more
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Acetylation of Rec8 cohesin complexes regulates reductional chromosome segregation in meiosis. [PDF]
Li Z, Liu Y, Jones AW, Watanabe Y.
europepmc +1 more source
Genetic Determinants of the Familial Hypercholesterolaemia Phenotype
ABSTRACT Individuals with familial hypercholesterolaemia (FH) have severely elevated plasma concentrations of low‐density lipoprotein cholesterol (LDL‐C) from birth and as a consequence have an elevated morbidity and mortality due to the development of coronary heart disease (CHD).
Steve Eric Humphries, Marta Futema
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Aurora B promotes the CENP-T-CENP-W interaction to guide accurate chromosome segregation in mitosis. [PDF]
Liu W+15 more
europepmc +1 more source
Investigating the diagnostic potential and functional role of CDCA genes in breast cancer. ABSTRACT Background The cell division cycle‐associated (CDCA) genes regulate key cellular processes like cell cycle progression and division. This study evaluates the diagnostic and clinical relevance of CDCA genes in breast cancer.
Yongsheng Zhao, Xiaocha Ma, Jun Zhou
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Chromosome Segregation-1-like Gene Participates in Ferroptosis in Human Ovarian Granulosa Cells via Nucleocytoplasmic Transport. [PDF]
Hu L+10 more
europepmc +1 more source
Genomic technologies and the diagnosis of 46, XY differences of sex development
Abstract Differences/disorders of sex development can be caused by disruptions to the molecular and cellular mechanisms that control development and sex determination of the reproductive organs with 1:100 live births affected. Multiple genes are associated with 46, XY differences/disorders of sex development that can cause varying clinical phenotypes ...
Firman Idris+2 more
wiley +1 more source
Chromosome segregation during spermatogenesis occurs through a unique center-kinetic mechanism in holocentric moth species. [PDF]
Hockens C+4 more
europepmc +1 more source