Results 61 to 70 of about 109,513 (348)
Bezmiâlem Science, 2020 Mutations in genes encoding the formation of ion channels may cause epileptic syndromes. These epileptic syndromes are generally divided into generalized and partial epilepsies.
Halil Aziz VELİOĞLU +1 more
doaj +1 more source
Environmental Factors Can Influence Mitochondrial Inheritance in the Saccharomyces Yeast Hybrids. [PDF]
PLoS ONE, 2017 Mitochondria play a critical role in the generation of metabolic energy and are crucial for eukaryotic cell survival and proliferation. In most sexual eukaryotes, mitochondrial DNA (mtDNA) is inherited from only one parent in non-Mendelian inheritance in
Yu-Yi Hsu, Jui-Yu Chou
doaj +1 more source
Curvature inheritance symmetry on M-projectively flat spacetimes [PDF]
International Journal of Geometric Methods in Modern Physics(2023), 2022 The paper aims to investigate curvature inheritance symmetry in M-projectively flat spacetimes. It is shown that the curvature inheritance symmetry in M-projectively flat spacetime is a conformal motion. We have proved that M- projective curvature tensor follows the symmetry inheritance property along a vector field $\xi$, when spacetime admits the ...
arxiv +1 more source
An heuristic filtering tool to identify phenotype-associated genetic variants applied to human intellectual disability and canine coat colors [PDF]
, 2015 Background: Identification of one or several disease causing variant(s) from the large collection of variants present in an individual is often achieved by the sequential use of heuristic filters.
Bosmans, Tim +8 more
core +5 more sources
Hepatology, EarlyView., 2022 A deleterious variant of FCHSD1 results in mTOR pathway overactivation and may cause porto‐sinusoidal vascular disorder (PSVD). The pedigree of the family demonstrated an autosomal dominant disease with variable expressivity. Whole‐genome sequencing and Sanger sequencing both validated the existence of the FCHSD1 variant and the heterozygosity of c ...
Jingxuan Shan +19 more
wiley +1 more source
Genetics of Childhood Epilepsy
Pediatric Neurology Briefs, 2000 Genetic epilepsies are classified according to the mechanism of inheritance in three major groups: 1) Mendelian idiopathic epilepsies; 2) Non-Mendelian or “complex” epilepsies; and 3) Chromosomal disorders.
J Gordon Millichap
doaj +1 more source
Chromosome drives via CRISPR-Cas9 in yeast
Nature Communications, 2020 Self-propagating drives allow for non-Mendelian inheritance. Here the authors use CRISPR to build a chromosome drive, showing elimination of entire chromosomes, endoreduplication of desired chromosomes and enabling preferential transmissions of complex ...
Hui Xu +5 more
doaj +1 more source
Efficient allelic-drive in Drosophila. [PDF]
, 2019 Gene-drive systems developed in several organisms result in super-Mendelian inheritance of transgenic insertions. Here, we generalize this "active genetic" approach to preferentially transmit allelic variants (allelic-drive) resulting from only a single ...
Berni, Mateus +9 more
core +3 more sources
Human Mutation, Volume 43, Issue 12, Page 1844-1851, December 2022., 2022 Abstract TATA‐binding protein associated factor 4 (TAF4) is a subunit of the Transcription Factor IID (TFIID) complex, a central player in transcription initiation. Other members of this multimeric complex have been implicated previously as monogenic disease genes in human developmental disorders.
Beau D. E. Janssen +20 more
wiley +1 more source
Frontiers in Neurology, 2021 Parkinson disease (PD) is a complex neurodegenerative disorder, usually with multifactorial etiology. It is characterized by prominent movement disorders and non-motor symptoms.
Daniele Guadagnolo +7 more
doaj +1 more source