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Homogentisate 1,2-dioxygenase

HGD, Homogentisate 1,2-Dioxygenase, HGO, homogentisic acid oxidase, AKU
This gene encodes the enzyme homogentisate 1,2 dioxygenase. This enzyme is involved in the catabolism of the amino acids tyrosine and phenylalanine. Mutations in this gene are the cause of the autosomal recessive metabolism disorder alkaptonuria.[provided by RefSeq, May 2010] (from NCBI)
Top mentioned proteins: ACID, HAD, CAN, p53, Insulin
Papers on HGD
IMP3 Immunoreactivity is More Sensitive Than AMACR in Detecting Dysplastic Epithelium and Early Adenocarcinoma in Barrett Esophagus.
New
Ligato et al., Hartford, United States. In Appl Immunohistochem Mol Morphol, Feb 2016
DESIGN: A total of 98 cases [BE negative for dysplasia, n=24; indefinite for dysplasia (BE-IND), n=18; low-grade dysplasia (LGD), n=24; high-grade dysplasia (HGD), n=16; and EAC, n=16] were immunostained for AMACR and IMP3 and evaluated for the degree, the extent, and the intensity of staining.
Molecular-Guided Endoscopy Targeting Vascular Endothelial Growth Factor A for Improved Colorectal Polyp Detection.
New
Nagengast et al., Groningen, Netherlands. In J Nucl Med, Jan 2016
METHODS: VEGF-A and EGFR expression was determined by immunohistochemistry on a large subset of human colorectal tissue samples: 48 sessile serrated adenomas/polyps (SSA/P), 70 sporadic high-grade dysplastic (HGD) adenomas, 19 hyperplastic polyps (HP) and tissue derived from patients with Lynch syndrome (LS): 78 low-grade dysplastic (LGD) adenomas, 57 HGD adenomas and 31 colon cancer samples.
Acute fatal metabolic complications in alkaptonuria.
New
Ranganath et al., Liverpool, United Kingdom. In J Inherit Metab Dis, Dec 2015
UNASSIGNED: Alkaptonuria (AKU) is a rare inherited metabolic disorder of tyrosine metabolism that results from a defect in an enzyme called homogentisate 1,2-dioxygenase.
A Systematic Review of Esophageal MicroRNA Markers for Diagnosis and Monitoring of Barrett's Esophagus.
New
Bansal et al., Minneapolis, United States. In Dig Dis Sci, Dec 2015
Publications reporting microRNA comparisons of normal, non-dysplastic BE, BE with high-grade dysplasia (HGD), and EAC tissues using both unbiased discovery and independent validation phases were reviewed.
Oxidative stress and mechanisms of ochronosis in alkaptonuria.
Review
New
Santucci et al., Siena, Italy. In Free Radic Biol Med, Nov 2015
Alkaptonuria (AKU) is a rare metabolic disease due to a deficient activity of the enzyme homogentisate 1,2-dioxygenase (HGD), involved in Phe and Tyr catabolism.
Pancreatic cyst fluid concentration of high-mobility group A2 protein acts as a differential biomarker of dysplasia in intraductal papillary mucinous neoplasm.
New
Allen et al., New York City, United States. In Gastrointest Endosc, Oct 2015
HGD, 4.2 (IQR 1.7-9.2) (P < .05).
Old treatments for new insights and strategies: proposed management in adults and children with alkaptonuria.
Review
New
de Lonlay et al., Paris, France. In J Inherit Metab Dis, Sep 2015
Alkaptonuria (AKU) is caused by deficiency of the enzyme homogentisate 1,2 dioxygenase.
Amyloidosis in alkaptonuria.
Review
New
Santucci et al., Siena, Italy. In J Inherit Metab Dis, Sep 2015
Alkaptonuria (AKU) is an ultra-rare inborn error of metabolism developed from the lack of homogentisic acid oxidase activity, causing homogentisic acid (HGA) accumulation that produces an HGA-melanin ochronotic pigment, of hitherto unknown composition.
Effect of Passivation on the Electrical Properties of Au/Hg3In2Te6 Schottky Contact.
New
Sun et al., In J Nanosci Nanotechnol, Sep 2015
Moreover, Te(2-) changed into Te(0) and HgO formed on the surface of Hg3In2Te6 at the same time.
Antireflux surgery for dysplastic Barrett.
Review
New
Patti et al., Torino, Italy. In World J Surg, Mar 2015
This condition can progress to low-grade (LGD) and high-grade dysplasia (HGD) and eventually to adenocarcinoma.
Site-Specific Impact of a Regional Hydrodynamic Injection: Computed Tomography Study during Hydrodynamic Injection Targeting the Swine Liver.
Terai et al., Niigata, Japan. In Pharmaceutics, 2014
A hemodynamic study of hydrodynamic gene delivery (HGD) from the tail vein in rodents has inspired a mechanism and an approach to further improve the efficacy of this procedure.
Proteomic analysis of Chromobacterium violaceum and its adaptability to stress.
Orlandi et al., Manaus, Brazil. In Bmc Microbiol, 2014
Stress-related expression changes were noted for C. violaceum proteins related to the previously characterized bacterial proteins: DnaK, GroEL-2, Rhs, EF-Tu, EF-P; MCP, homogentisate 1,2-dioxygenase, Arginine deiminase and the ATP synthase β-subunit protein as well as for the ribosomal protein subunits L1, L3, L5 and L6.
Alkaptonuria.
Review
Taylor et al., Lancaster, United Kingdom. In Rare Dis, 2012
Alkaptonuria (AKU) is a rare disorder of autosomal recessive inheritance.
Homogentisate 1,2 dioxygenase is expressed in human osteoarticular cells: implications in alkaptonuria.
GeneRIF
Santucci et al., Siena, Italy. In J Cell Physiol, 2012
The observed increase of HGD expression in Alkaptonuria cells is probably due to a compensatory mechanism to overcome the almost null catalytic activity of the deficient enzyme
An update on molecular genetics of Alkaptonuria (AKU).
GeneRIF
Zatkova, Bratislava, Slovakia. In J Inherit Metab Dis, 2011
An update on molecular genetics of Alkaptonuria (AKU).(review)
Familiar ochronotic arthropathy-caused by a gene mutation traced three hundred years.
GeneRIF
Szabó et al., Szeged, Hungary. In Joint Bone Spine, 2010
Familiar ochronotic arthropathy is caused by a gene mutation of the homogentisic acid 1,2-dioxygenase (HGD) gene traced three hundred years in a Hungarian family.
Meat quality and carcass traits in relation to HGD-BstXI and HGD-HaeIII PCR-RFLP polymorphism in Chinese red cattle.
GeneRIF
Jin et al., Harbin, China. In Meat Sci, 2010
The effects of polymorphisims in the restriction sites for HGD-BstXI and HGD-HaeIII on meat quality and body composition of Chinese red cattle are reported.
Mutation spectrum of homogentisic acid oxidase (HGD) in alkaptonuria.
GeneRIF
Gahl et al., Bethesda, United States. In Hum Mutat, 2009
A comprehensive mutation analysis of 93 patients enrolled in this study, as well as an extensive update of all previously published HGD mutations associated with alkaptonuria, is reported.
Natural history of alkaptonuria.
Impact
Gahl et al., Bethesda, United States. In N Engl J Med, 2003
BACKGROUND: Alkaptonuria, caused by mutations in the HGO gene and a deficiency of homogentisate 1,2-dioxygenase, results in an accumulation of homogentisic acid (HGA), ochronosis, and destruction of connective tissue.
The molecular basis of alkaptonuria.
Impact
Rodríguez de Córdoba et al., Madrid, Spain. In Nat Genet, 1996
Alkaptonuria is a rare metabolic disorder resulting from loss of homogentisate 1,2 dioxygenase (HGO) activity.
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