Wilson1, Colin Macdonald2, Tharin M. A. Blumenschein2, Geoffrey R. Moore2 & Jonathan A. R. Worrall1 Thrombocytopenia 4 is an inherited autosomal dominant thrombocytopenia, which occurs due to mutations in the human gene for cytochrome c that results in enhanced ...
It encodes the pore-forming human CaV3.3 α1 subunit, a subtype of voltage-gated calcium channel that contributes to T-type currents. Recently, two de novo missense variations, T797M and R1346H, of hCaV3.3 were identified in individuals with schizophrenia. Here we show that R1346H, but ...
a potentially error-free pathway of homologous recombination (HR). Some BRCA1 missense mutations (encoding point mutant proteins) are known to be either neutral or pathogenic. However, most missense mutants—termed “variants of
Parkinson’s disease (PD) is a multifactorial, chronic, and progressive neurodegenerative disorder inducing movement alterations as a result of the loss of dopaminergic (DAergic) neurons of the pars compacta in the substantia nigra and protein aggregates
Further analyses were performed using the UCSC Genome Browser (http://genome.ucsc.edu/, accessed on 24 July 2020) and associated links on the human GRCh38/hg38 genome assembly. Multiplex ligation-dependent probe amplification (MLPA) analysis (MRC Holland probemix P017) was performed according ...
Lilis has orange-red skin, copper-colored hair and green eyes; she looks like a short, plump, well-preserved human female of middle age, except for the hue of her skin, her tiny orange-red horns, long red nails, forked tail, wings, and delicate cloven black hooves. ...
In addition, five other variants associated with human diseases (PTCH2, POMGNT1, EPRS1, TREX1, HCLS) were identified. However, by screening the database Infevers for the PLCG2 variant only, similar clinical features to those observed in the family of the case series were previously ...
Dogs may also suffer from various forms of CLE, some of which resemble or are identical to their human homologs [4]. The so-called exfoliative cutaneous lupus erythematosus (ECLE) is a dog-specific variant of chronic CLE that has a very strong hereditary component and appears to be ...
www.nature.com/scientificreports OPEN Human GPR42 is a transcribed multisite variant that exhibits copy number polymorphism and received: 17 March 2015 accepted: 13 July 2015 Published: 11 August 2015 is functional when heterologously expressed Henry L. Puhl III, Yu-Jin Won†, Van B...
High expression was seen in the human heart, lung, skeletal muscle, pancreas, testis, small intestine, and stomach, but no expression was detected in the brain [9]. The association of loss-of-function mutations in the CASZ1 gene with increased susceptibility to CHD may be partly ascribed ...