Results 131 to 140 of about 503,355 (348)
Genetic diversity and population structure of the Taigan dog breed
FEBS Open Bio, EarlyView.The Taigan is a rare sighthound from the mountains of Kyrgyzstan. We used DNA markers to study its genetic diversity and compare it with other sighthound breeds. Our findings show that the Taigan shares close genetic ties with the Kazakh Tazy, suggesting a common ancestry shaped by nomadic traditions and regional adaptation.
Kira Bespalova +10 more
wiley +1 more source
Mitochondrial DNA disorders in neuromuscular diseases in diverse populations
Annals of Clinical and Translational Neurology, EarlyView.Abstract Neuromuscular features are common in mitochondrial DNA (mtDNA) disorders. The genetic architecture of mtDNA disorders in diverse populations is poorly understood. We analysed mtDNA variants from whole‐exome sequencing data in neuromuscular patients from South Africa, Brazil, India, Turkey and Zambia. In 998 individuals, there were two definite
Fei Gao +34 more
wiley +1 more source
Stem Cell Reports, 2018 Summary: It is highly desirable to specify human developmental principles in an appropriate human model with advanced genetic tools. However, genetically engineering human cells with lineage-tracing systems has not been achieved.
Zhenyu Chen +12 more
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Genetic variations on the Y chromosome in the Japanese population and implications for modern human Y chromosome lineage [PDF]
, 1999 Toshikatsu Shinka +9 more
openalex +1 more source
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT C‐truncating variants in the charged multivesicular body protein 2B (CHMP2B) gene are a rare cause of frontotemporal lobar degeneration (FTLD), previously identified only in Denmark, Belgium, and China. We report a novel CHMP2B splice‐site variant (c.35‐1G>A) associated with familial FTLD in Spain. The cases were two monozygotic male twins who
Sara Rubio‐Guerra +17 more
wiley +1 more source
A Novel Genetic Pathway for Sudden Cardiac Death via Defects in the Transition between Ventricular and Conduction System Cell Lineages [PDF]
, 2000 Vân Nguyên-Trân +15 more
openalex +1 more source
Compound Heterozygous MRPS14 Variants Associated With Leigh Syndrome
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT MRPS14 (uS14m) is a nuclear‐encoded ribosomal protein important for mitochondria‐specific translation. To date, only a single individual with a recessive MRPS14‐related disorder (also known as COXPD38) has been reported. We report an additional subject possessing novel compound heterozygous MRPS14 variants (p.Asp37Asn, p.Asn60Asp). The subject
Maria Gabriela Otero +15 more
wiley +1 more source
A PANoptosis‐Based Signature for Survival and Immune Predication in Glioblastoma Multiforme
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective PANoptosis is a concept of total cell death characterized by pyroptosis, apoptosis, and necroptosis. We aimed to explore the clinical significance of PANoptosis‐related genes (PARGs) in glioblastoma multiforme (GBM). Methods Expression profiles of GBM were downloaded from the XENA database as a training dataset to construct a ...
Jun Yang +4 more
wiley +1 more source
Coffee Consumption Is Associated With Later Age‐at‐Onset of Parkinson's Disease
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Observation studies suggest that coffee consumption may lower the risk and delay the age‐at‐onset (AAO) of Parkinson's disease (PD). The aim of this study was to explore the causal relationship and genetic association between coffee consumption and the AAO, risk, and progression of PD. Using Mendelian randomization, we identified a significant
Dariia Kuzovenkova +3 more
wiley +1 more source
A stochastic and dynamical view of pluripotency in mouse embryonic stem cells
, 2017 Pluripotent embryonic stem cells are of paramount importance for biomedical research thanks to their innate ability for self-renewal and differentiation into all major cell lines.
Hufton, Peter G. +3 more
core +3 more sources