Medical genetics: advances in brief: Hemizygosity at the elastin locus in a developmental disorder, Williams syndrome [PDF]
, 1994 Andrew O.M. Wilkie
openalex +1 more source
Transcriptome‐wide analysis of circRNA and RBP profiles and their molecular relevance for GBM
Molecular Oncology, EarlyView.CircRNAs are differentially expressed in glioblastoma primary tumors and might serve as therapeutic targets and diagnostic markers. The investigation of circRNA and RNA‐binding proteins (RBPs) interactions shows that distinct RBPs play a role in circRNA biogenesis and function.
Julia Latowska‐Łysiak +14 more
wiley +1 more source
The clinical spectrum of SMA‐PME and in vitro normalization of its cellular ceramide profile
Annals of Clinical and Translational Neurology, Volume 9, Issue 12, Page 1941-1952, December 2022., 2022 Abstract Objective The objectives of this study were to define the clinical and biochemical spectrum of spinal muscular atrophy with progressive myoclonic epilepsy (SMA‐PME) and to determine if aberrant cellular ceramide accumulation could be normalized by enzyme replacement.
Michelle M. Lee +16 more
wiley +1 more source
Extracting Epistatic Interactions in Type 2 Diabetes Genome-Wide Data Using Stacked Autoencoder [PDF]
arXiv, 2018 2 Diabetes is a leading worldwide public health concern, and its increasing prevalence has significant health and economic importance in all nations. The condition is a multifactorial disorder with a complex aetiology. The genetic determinants remain largely elusive, with only a handful of identified candidate genes.
arxiv
Applications of Single Locus Minlsatellite DNA Probes to the Study of Atlantic Salmon (Salmo salar L.) Population Genetics [PDF]
, 1997 J P egrave rez +3 more
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Molecular Oncology, EarlyView.Loss of the frequently mutated chromatin remodeler ARID1A, a subunit of the SWI/SNF cBAF complex, results in less open chromatin, alternative splicing, and the failure to stop cells from progressing through the cell cycle after DNA damage in bladder (cancer) cells. Created in BioRender. Epigenetic regulators, such as the SWI/SNF complex, with important
Rebecca M. Schlösser +11 more
wiley +1 more source
COVID‐19 and the risk of Alzheimer's disease, amyotrophic lateral sclerosis, and multiple sclerosis
Annals of Clinical and Translational Neurology, Volume 9, Issue 12, Page 1953-1961, December 2022., 2022 Abstract Background The coronavirus disease 2019 (COVID‐19) pandemic has had an unprecedented impact on the healthcare system, economy, and society. Studies have reported that COVID‐19 may cause various neurologic symptoms, including cognitive impairment.
Hanyu Zhang, Zengyuan Zhou
wiley +1 more source
Physiology and genetics of the "ribonucleic acid control" locus in escherichia coli [PDF]
, 1968 Gordon Edlin, Paul Broda
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Characterization of 13 microsatellite loci developed from Meconopsis horridula
Genetics and Molecular Biology, 2010 Meconopsis horridula is one of the eight most famous flowers in Chinese province of Yunnan. In this study, a modified biotin-streptavidin capture method was used to detect 13 microsatellite markers in the genome of M. horridula.
Yu Zhao +3 more
doaj
Genetic determinants of gut microbiota composition and bile acid profiles in mice.
PLoS Genetics, 2019 The microbial communities that inhabit the distal gut of humans and other mammals exhibit large inter-individual variation. While host genetics is a known factor that influences gut microbiota composition, the mechanisms underlying this variation remain ...
Julia H Kemis +17 more
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