RNA Sequencing Resolves Cryptic Pathogenic Variants in Mitochondrial Disease
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Mitochondrial diseases are the most common inherited metabolic disorders, characterized by pronounced clinical and genetic heterogeneity that complicates molecular diagnosis. Although DNA‐based sequencing approaches have become standard in genetic testing, up to half of patients remain without a definitive diagnosis.
Zhimei Liu +21 more
wiley +1 more source
Heterozygous diploid and interspecies SCRaMbLEing
, 2018 SCRaMbLE (Synthetic Chromosome Rearrangement and Modification by LoxP-mediated Evolution) is a genome restructuring technique that can be used in synthetic genomes such as that of Sc2.0, the synthetic yeast genome, which contains hundreds to thousands of
Xiao Zhou +13 more
core +1 more source
Early Clinical, Imaging, and Pathological Characteristics of SRPK3/TTN‐Digenic Myopathy
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective SRPK3/TTN‐digenic myopathy was recently established as a skeletal muscle myopathy caused by digenic inheritance. This study characterizes the early clinical presentation of SRPK3/TTN‐digenic myopathy in one previously reported and seven newly identified pediatric patients.
Rotem Orbach +23 more
wiley +1 more source
Gene Frequency of ABO Blood Group and Rh Factor Allele among the People of Sylhet, Bangladesh. [PDF]
Journal of EpigeneticsKnowledge of blood grouping is very important, especially for safer blood transfusions. The blood group and Rh factor of an individual is determined by the presence or absence of different antigens and Rh factor on the surface of the RBC, respectively ...
Sharmin Akter +3 more
doaj +1 more source
Compound heterozygous mutations affect protein folding and function in patients with congenital sucrase-isomaltase deficiency [PDF]
, 2009 BACKGROUND & AIMS: Congenital sucrase-isomaltase (SI) deficiency is an autosomal-recessive intestinal disorder characterized by a drastic reduction or absence of sucrase and isomaltase activities.
Alfalah, Marwan +4 more
core +1 more source
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Variants in SLC6A1, encoding the GABA transporter 1 (GAT‐1), cause epilepsy, autism spectrum disorder, and developmental delay via loss of GABA uptake, impaired trafficking, and ER retention. We previously found that 4‐Phenylbutyrate (PBA), an FDA‐approved drug, restores GABA uptake and reduces seizures in SLC6A1‐related disorders ...
Melissa B. DeLeeuw +5 more
wiley +1 more source
Unexpected intensities can cause false heterozygous calls.
, 2022 (A) & (C): Two examples of cluster plots displaying the summarized intensities of each sample for a given probeset in “signal contrast” vs. “signal strength” space. Each point is the summary (median polish) of two replicate probes (rep1 and rep2) for the
Adrian Bivol (4666309) +10 more
core +1 more source
Onasemnogene Abeparvovec in Patients With SMA: Interim Results of the RESTORE Registry in Japan
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective There are limited real‐world data regarding the safety and effectiveness of onasemnogene abeparvovec (OA; Zolgensma) infusion, a one‐time gene replacement therapy, for Japanese patients with spinal muscular atrophy (SMA). We aimed to improve understanding of the real‐world outcomes for OA in Japan.
Kayoko Saito +8 more
wiley +1 more source
A novel heterozygous pathogenic AIRE variant causing autoimmunity but not infectious susceptibilityNovel heterozygous AIRE variant causing autosomal dominant APECED [PDF]
We describe a novel heterozygous variant in AIRE in 3 individuals with mild APECED. This variant was validated as being pathogenic by a mechanism of negative dominance.
Stuart G. Tangye +26 more
core +2 more sources
Identification of a novel heterozygous mutation in exon 50 of the COL1A1 gene manifesting clinically as osteogenesis imperfecta [PDF]
, 2013 A 19-year-old woman was diagnosed with osteogenesis imperfecta (OI). She had sustained numerous low-trauma fractures throughout her childhood, including a recent pelvic fracture (superior and inferior ramus) following a low-impact fall.
Barber, T. M. +15 more
core +1 more source