Skip to search formSkip to main contentSkip to account menu

HMBS gene

Known as: PBGD, HYDROXYMETHYLBILANE SYNTHASE, PRE-UROPORPHYRINOGEN SYNTHASE 
National Institutes of Health

Related topics

Related topics

1 relation
Hydroxymethylbilane Synthase

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
Highly Cited
2001
Highly Cited
2001
Detection of tumor-associated circulating mRNA in serum, plasma and blood cells from patients with disseminated malignant melanoma.
Reverse transcription polymerase chain reaction (RT-PCR)-based detection of tyrosinase mRNA is a frequently used method for the… 
1997
1997
Time-course of butyric acid-induced differentiation in human K562 leukemic cell line: rapid increase in γ-globin, porphobilinogen deaminase and NF-E2 mRNA levels
Butyric acid (BA) was shown to induce hemoglobinization of K562 cells in a dose- and time-dependent manner. The maximal… 
1997
1997
Diagnostic strategy, genetic diagnosis and identification of new mutations in intermittent porphyria by denaturing gradient gel electrophoresis
Acute intermittent porphyria (AIP) is an autosomal dominant inherited disease of heme metabolism caused by mutations in the… 
1996
1996
Hepatocellular carcinoma in patients from northern Sweden with acute intermittent porphyria: morphology and mutations.
More than a decade ago an association between acute intermittent porphyria (AIP) and hepatocellular carcinoma (HCC) was reported… 
1992
1992
High frequency of mutations in exon 10 of the porphobilinogen deaminase gene in patients with a CRIM-positive subtype of acute intermittent porphyria.
Acute intermittent porphyria (AIP) is an autosomal dominant disease characterized by a partial deficiency of porphobilinogen (PBG… 
Highly Cited
1991
Highly Cited
1991
Studies on the mechanism of hydroxymethylbilane synthase concerning the role of arginine residues in substrate binding.
The role of conserved arginine residues in hydroxymethylbilane synthase was investigated by replacing these residues in the… 
Highly Cited
1990
Highly Cited
1990
Synergy between the NF-E1 erythroid-specific transcription factor and the CACCC factor in the erythroid-specific promoter of the human porphobilinogen deaminase gene
A 114-base-pair promoter fragment of the human porphobilinogen deaminase gene functioned in an erythroid-specific manner in… 
Highly Cited
1989
Highly Cited
1989
The mouse porphobilinogen deaminase gene. Structural organization, sequence, and transcriptional analysis.
The porphobilinogen deaminase gene encodes the third enzyme of the heme biosynthetic pathway. This gene is expressed in a tissue… 
1988
1988
Rat porphobilinogen deaminase cDNA: nucleotide sequence of the erythropoietic form.
1986
1986
Protoporphyrinogen oxidase and porphobilinogen deaminase in variegate porphyria
Abstract. Two enzymes of the haem biosynthetic pathway were investigated in patients with variegate porphyria. Protoporphyrinogen… 
By clicking accept or continuing to use the site, you agree to the terms outlined in our Privacy Policy (opens in a new tab), Terms of Service (opens in a new tab), and Dataset License (opens in a new tab)