Mutations and polymorphisms in the human argininosuccinate synthetase (ASS1) gene.
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Suggested guidelines for the diagnosis and management of urea cycle disordersLeishmania donovani argininosuccinate synthase is an active enzyme associated with parasite pathogenesisGenetic Manipulation of Leishmania donovani to Explore the Involvement of Argininosuccinate Synthase in Oxidative Stress ManagementKinetic mutations in argininosuccinate synthetase deficiency: characterisation and in vitro correction by substrate supplementationArgininosuccinate synthase 1 is an intrinsic Akt repressor transactivated by p53Differential expression of liver proteins between obesity-prone and obesity-resistant rats in response to a high-fat diet.Two hypomorphic alleles of mouse Ass1 as a new animal model of citrullinemia type I and other hyperammonemic syndromes.Arginase I gene single-nucleotide polymorphism is associated with decreased risk of pulmonary hypertension in bronchopulmonary dysplasia.Concurrent triplication and uniparental isodisomy: evidence for microhomology-mediated break-induced replication model for genomic rearrangements.A genome-wide approach identifies that the aspartate metabolism pathway contributes to asparaginase sensitivity.Regions of homozygosity identified by oligonucleotide SNP arrays: evaluating the incidence and clinical utilityClinical outcomes of neonatal onset proximal versus distal urea cycle disorders do not differArgininosuccinate synthase conditions the response to acute and chronic ethanol-induced liver injury in miceFavorable long-term outcome following severe neonatal hyperammonemic coma in a patient with argininosuccinate synthetase deficiency.First applications of a targeted exome sequencing approach in fetuses with ultrasound abnormalities reveals an important fraction of cases with associated gene defectsArgininosuccinate synthetase regulates hepatic AMPK linking protein catabolism and ureagenesis to hepatic lipid metabolism.Argininosuccinate synthetase 1 depletion produces a metabolic state conducive to herpes simplex virus 1 infection.A metabolic synthetic lethal strategy with arginine deprivation and chloroquine leads to cell death in ASS1-deficient sarcomas.Transcriptomic profiling of TK2 deficient human skeletal muscle suggests a role for the p53 signalling pathway and identifies growth and differentiation factor-15 as a potential novel biomarker for mitochondrial myopathies.Mutations in the Human Argininosuccinate Synthetase (ASS1) Gene, Impact on Patients, Common Changes, and Structural Considerations.An update on the use of benzoate, phenylacetate and phenylbutyrate ammonia scavengers for interrogating and modifying liver nitrogen metabolism and its implications in urea cycle disorders and liver disease.The first successful live birth following preimplantation genetic diagnosis using PCR for type 1 citrullinemia.Extracellular vesicles from human liver stem cells restore argininosuccinate synthase deficiency.Profile of sodium phenylbutyrate granules for the treatment of urea-cycle disorders: patient perspectives.Molecular epidemiology of citrullinemia type I in a risk region of Argentina: a first step to preconception heterozygote detection.Citrullinemia type 1: genetic diagnosis and prenatal diagnosis in subsequent pregnancy.ASS1 tetramer:NMRAL1 dimer:NADPH transforms L-Asp and L-Cit to ARSUAGenomic variants in the ASS1 gene, involved in the nitric oxide biosynthesis and signaling pathway, predict hydroxyurea treatment efficacy in compound sickle cell disease/β-thalassemia patients.Citrullinaemia type I: a common mutation in the Pacific Island population.
P2860
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P2860
Mutations and polymorphisms in the human argininosuccinate synthetase (ASS1) gene.
description
2009 nî lūn-bûn
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2009 թուականի Մարտին հրատարակուած գիտական յօդուած
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2009 թվականի մարտին հրատարակված գիտական հոդված
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2009年の論文
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2009年論文
@yue
2009年論文
@zh-hant
2009年論文
@zh-hk
2009年論文
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2009年論文
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2009年论文
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name
Mutations and polymorphisms in the human argininosuccinate synthetase (ASS1) gene.
@ast
Mutations and polymorphisms in the human argininosuccinate synthetase (ASS1) gene.
@en
Mutations and polymorphisms in the human argininosuccinate synthetase
@nl
type
label
Mutations and polymorphisms in the human argininosuccinate synthetase (ASS1) gene.
@ast
Mutations and polymorphisms in the human argininosuccinate synthetase (ASS1) gene.
@en
Mutations and polymorphisms in the human argininosuccinate synthetase
@nl
prefLabel
Mutations and polymorphisms in the human argininosuccinate synthetase (ASS1) gene.
@ast
Mutations and polymorphisms in the human argininosuccinate synthetase (ASS1) gene.
@en
Mutations and polymorphisms in the human argininosuccinate synthetase
@nl
P2093
P2860
P356
P1433
P1476
Mutations and polymorphisms in the human argininosuccinate synthetase (ASS1) gene.
@en
P2093
Johannes Häberle
Katharina Engel
Wolfgang Höhne
P2860
P304
P356
10.1002/HUMU.20847
P577
2009-03-01T00:00:00Z