Results 91 to 100 of about 16,136 (213)
Clinical Genetics, EarlyView.Genetic hepatic cholestasis: NGS diagnostic yield. Over a 10‐year period, NGS (gene panel/WES) established a genetic diagnosis in 70% of 66 families with hepatic cholestasis, with a molecular yield of 62%. ABCB11 was the most mutated gene, and PFIC Type 2 was the leading diagnosis, underscoring the critical role of NGS in guiding genetic counseling and
Amal Abdmouleh +12 more
wiley +1 more source
Clinical Genetics, EarlyView.Heterozygous de novo nonsense variants in the penultimate and last exons of NUSAP1 were identified in two unrelated individuals, predicted to escape NMD. In population data, nonsense variants were observed in exons 1–9 (of 11) in NUSAP1 but were absent from its 3′‐terminal region.
Maureen Jacob +15 more
wiley +1 more source
Oral bony outgrowths: Prevalence and genetic factor influence. Study of twins
Medicina, 2015 Objective: The aim of the study was to verify the influence of a genetic factor on the etiology of oral bony outgrowths and to determine the prevalence and type of oral bony outgrowths (tori and exostoses) among a group of Lithuanian twins. Materials and
Adomas Auškalnis +5 more
doaj +1 more source
TOP1MT rs2293925 is an enhancer‐active regulatory SNP that shapes mitochondrial R‐loop dynamics
The FEBS Journal, EarlyView.This study shows how a common genetic variant of mitochondrial topoisomerase 1 (TOP1MT rs2293925) can influence mitochondrial gene regulation, DNA topology, and formation of noncanonical nucleic acid structures such as R‐loops. By linking this enhancer‐active variant to mitochondrial nucleic acid stress in cellular contexts relevant to amyotrophic ...
Dóra Varga +15 more
wiley +1 more source
Determining Zygosity With Multiplex Kompetitive Allele‐Specific PCR (mxKASP) Genotyping
Ecology and EvolutionWe introduce multiplex Kompetitive Allele‐Specific PCR (mxKASP): a modification of “classical” KASP genotyping that allows zygosity to be determined in diploid organisms. Rather than targeting a SNP associated with a single marker, mxKASP targets two non‐
Willem R. M. Meilink +4 more
doaj +1 more source
The FEBS Journal, EarlyView.FTO regulates mRNA stability and translational efficiency through its m6A‐demethylation activity. GSK3 functions as an upstream regulator of FTO, leading to its inhibition via phosphorylation. In male germ cells, FTO activity is kept in check by GSK3α.
Neha Choudhari +7 more
wiley +1 more source
Performing Large‐Scale Genetic Analysis in the Bleeding Disorders Community
Haemophilia, EarlyView.ABSTRACT Inherited bleeding disorders encompass a diverse group of conditions caused by genetic defects affecting coagulation factors, fibrinogen, von Willebrand factor, or platelet function. Despite major advances in quantitative and functional laboratory assays, a substantial diagnostic gap remains, particularly in patients with mild or atypical ...
Anna R. Blankstein +6 more
wiley +1 more source
Maturational Changes of Delta Waves in Monozygotic and Dizygotic Infant Twins
Journal of Experimental Neuroscience, 2018 Aims: To compare developmental changes of delta 1 (0.5-2.0 Hz) and delta 2 (2.25-3.75 Hz) power spectra between healthy monozygotic (MZ) and dizygotic (DZ) twin pairs and among MZ and DZ twin groups during active/REM (AS/REM) and quiet/NREM (QS/NREM ...
Mirjana Vucinovic +3 more
doaj +1 more source
Zygosity assignment by different investigators using zyFISH.
, 2012 Analysis of samples obtained from four C57/Bl6-tga20 transgenic mice with known zygosity (1–4); two slides were produced from each sample (e.g. 1.1 and 1.2).
Donal McHugh (161523) +3 more
core +1 more source