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PYROXD1 gene

Known as: PYRIDINE NUCLEOTIDE-DISULFIDE OXIDOREDUCTASE DOMAIN-CONTAINING PROTEIN 1, PYROXD1, DKFZp762G094 
National Institutes of Health

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2020
2020
Myopathy associated with homozygous PYROXD1 pathogenic variants detected by genome sequencing
Biallelic pathogenic variants in the gene PYROXD1 have recently been described to cause early‐onset autosomal recessive myopathy… Expand
2019
2019
Clinical, histological, and genetic characterization of PYROXD1-related myopathy
Recessive mutations in PYROXD1, encoding an oxidoreductase, were recently reported in families with congenital myopathy or limb… Expand
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2018
2018
The impact of PYROXD1 deficiency on cellular respiration and correlations with genetic analyses of limb-girdle muscular dystrophy in Saudi Arabia and Sudan.
Next generation sequencing is commonly used to screen for pathogenic mutations in families with Mendelian disorders, but due to… Expand
2018
2018
Recessive PYROXD1 mutations cause adult-onset limb-girdle-type muscular dystrophy
ObjectiveTo describe adult-onset limb-girdle-type muscular dystrophy caused by biallelic variants in the PYROXD1 gene, which has… Expand
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Review
2018
Review
2018
Myofibrillar myopathy in the genomic context
Myofibrillar myopathy (MFM) is a group of inherited muscular disorders characterized by myofibril dissolution and abnormal… Expand
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2018
2018
Evidence of evolutionary history and selective sweeps in the genome of Meishan pig reveals its genetic and phenotypic characterization
Abstract Background Meishan is a pig breed indigenous to China and famous for its high fecundity. The traits of Meishan are… Expand
2018
2018
Impact of PYROXD1 deficiency on cellular respiration and correlations with genetic analyses of limb-girdle muscular dystrophy in Saudi Arabia and Sudan.
Next-generation sequencing is commonly used to screen for pathogenic mutations in families with Mendelian disorders, but due to… Expand
2017
2017
Creating a High-Resolution Descending Motor Template Using Human Connectome Project Data
Background: Bone metastasis is common in different cancers, and increases morbidity and mortality. The goals of this study were… Expand
2016
2016
Variants in the Oxidoreductase PYROXD1 Cause Early-Onset Myopathy with Internalized Nuclei and Myofibrillar Disorganization.
This study establishes PYROXD1 variants as a cause of early-onset myopathy and uses biospecimens and cell lines, yeast, and… Expand
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Highly Cited
2006
Highly Cited
2006
Down-regulation of stem cell genes, including those in a 200-kb gene cluster at 12p13.31, is associated with in vivo differentiation of human male germ cell tumors.
Adult male germ cell tumors (GCTs) comprise distinct groups: seminomas and nonseminomas, which include pluripotent embryonal… Expand
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