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PYROXD1 gene

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

Papers overview

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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
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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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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
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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
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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
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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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2011
2011
Estimación de la proteína no degradable en el rumen de pastos de la Montaña Leonesa empleando el CNCPS (Cornell)
6 paginas, 3 tablas.-- Trabajo presentado a la 50a Reunion Cientifica de la Sociedad Espanola para el Estudio de los Pastos… 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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1986
1986
[Genetic analysis of Escherichia coli K-12 mutants defective for the structural and regulatory genes for second purine nucleoside phosphorylase].
Two types of mutants lacking the second purine nucleoside phosphorylase (PNPase 2) activity were isolated using the Escherichia… Expand
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