about
Genome-wide matching of genes to cellular roles using guilt-by-association models derived from single sample analysisThe molecular basis of 3-methylcrotonylglycinuria, a disorder of leucine catabolismInherited metabolic disease in companion animals: searching for nature's mistakesHuman genetic basis of interindividual variability in the course of infectionCharacterization of a fungal maleylacetoacetate isomerase gene and identification of its human homologueOchronotic osteoarthropathy in a mouse model of alkaptonuria, and its inhibition by nitisinoneAre we ready to try to cure alkaptonuria?The homogentisate pathway: a central catabolic pathway involved in the degradation of L-phenylalanine, L-tyrosine, and 3-hydroxyphenylacetate in Pseudomonas putida.First report of a deletion encompassing an entire exon in the homogentisate 1,2-dioxygenase gene causing alkaptonuria.Mutation spectrum of homogentisic acid oxidase (HGD) in alkaptonuria.Alkaptonuric ochronosis with aortic valve and joint replacements and femoral fracture: a case report and literature review.An update on molecular genetics of Alkaptonuria (AKU).Maleylacetoacetate isomerase (MAAI/GSTZ)-deficient mice reveal a glutathione-dependent nonenzymatic bypass in tyrosine catabolism.Molecular genetics of pseudoxanthoma elasticum.Proteomic analysis of native hepatocyte nuclear factor-4α (HNF4α) isoforms, phosphorylation status, and interactive cofactors.High frequency of alkaptonuria in Slovakia: evidence for the appearance of multiple mutations in HGO involving different mutational hot spots.Ocular ochronosis in alkaptonuria patients carrying mutations in the homogentisate 1,2-dioxygenase gene.In vivo suppressor mutations correct a murine model of hereditary tyrosinemia type I.Analysis of HGD Gene Mutations in Patients with Alkaptonuria from the United Kingdom: Identification of Novel MutationsMetabolic Effects of Increasing Doses of Nitisinone in the Treatment of Alkaptonuria.Biochemical and proteomic characterization of alkaptonuric chondrocytes.Chromosomal aberrations in squamous cell carcinomas of the upper aerodigestive tract: biologic insights and clinical opportunities.Alkaptonuric ochronosis: Report of a case and brief review.Identification of 11 Novel Homogentisate 1,2 Dioxygenase Variants in Alkaptonuria Patients and Establishment of a Novel LOVD-Based HGD Mutation DatabaseThe Distribution of Ochronosis in Osteoarthritic Articular Cartilage in a KneeNMR-based metabolomics of urine in a mouse model of Alzheimer's disease: identification of oxidative stress biomarkers.Twelve novel HGD gene variants identified in 99 alkaptonuria patients: focus on 'black bone disease' in Italy.Alkaptonuria--a review of surgical and autopsy pathology.Alkaptonuria in a middle-aged female.Early diagnosis of co-existent ß-thalassemia and alkaptonuria.Closing the gap: inverting the genetics curriculum to ensure an informed public.A Founder Effect for the HGD G360R Mutation in Italy: Implications for a Regional Screening of Alkaptonuria.A Case of Alkaptonuria with Degenerative Collagenous Plaques and Foot Drop.Detection of novel visible-light region absorbance peaks in the urine after alkalization in patients with alkaptonuria.Alkaptonuria in France: past experience and lessons for the future.Shoulder arthroplasty in alkaptonuric arthropathy: a clinical case report and literature review.Searching for gold beyond mitosis: Mining intracellular membrane traffic in Aspergillus nidulans.The application of next-generation sequencing in the autozygosity mapping of human recessive diseases.Redox proteomics gives insights into the role of oxidative stress in alkaptonuria.A two-electron-shell game: intermediates of the extradiol-cleaving catechol dioxygenases.
P2860
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P2860
description
1996 թուականի Սեպտեմբերին հրատարակուած գիտական յօդուած
@hyw
1996 թվականի սեպտեմբերին հրատարակված գիտական հոդված
@hy
articolo scientifico
@it
artículu científicu espublizáu en 1996
@ast
im September 1996 veröffentlichter wissenschaftlicher Artikel
@de
scientific journal article
@en
vedecký článok (publikovaný 1996/09/01)
@sk
vědecký článek publikovaný v roce 1996
@cs
wetenschappelijk artikel (gepubliceerd op 1996/09/01)
@nl
наукова стаття, опублікована у вересні 1996
@uk
name
The molecular basis of alkaptonuria
@ast
The molecular basis of alkaptonuria
@en
The molecular basis of alkaptonuria
@nl
type
label
The molecular basis of alkaptonuria
@ast
The molecular basis of alkaptonuria
@en
The molecular basis of alkaptonuria
@nl
prefLabel
The molecular basis of alkaptonuria
@ast
The molecular basis of alkaptonuria
@en
The molecular basis of alkaptonuria
@nl
P2093
P2860
P356
P1433
P1476
The molecular basis of alkaptonuria
@en
P2093
B. Granadino
D. Beltrán-Valero de Bernabé
E. Fernández-Ruiz
J. M. Fernández-Cañón
M. A. Peñalva
S. Rodríguez de Córdoba
P2860
P2888
P356
10.1038/NG0996-19
P407
P577
1996-09-01T00:00:00Z