|
Acute intermittent porphyria
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Acute intermittent porphyria (AIP) is attributable to defects in the porphobilinogen deaminase (PBGD) gene.
|
8270256 |
1994 |
|
Acute intermittent porphyria
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
May 2006 update in porphobilinogen deaminase gene polymorphisms and mutations causing acute intermittent porphyria: comparison with the situation in Slavic population.
|
17298216 |
2006 |
|
Acute intermittent porphyria
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
We used heteroduplex analysis to screen for mutations in the porphobilinogen deaminase gene in 21 patients with acute intermittent porphyria (AIP).
|
7635464 |
1995 |
|
Acute intermittent porphyria
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
High frequency of mutations in exon 10 of the porphobilinogen deaminase gene in patients with a CRIM-positive subtype of acute intermittent porphyria.
|
1496994 |
1992 |
|
Acute intermittent porphyria
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
A single base insertion of C in exon 15 of the porphobilinogen deaminase (PBG-D) gene was observed in a patient with acute intermittent porphyria (AIP) by polymerase chain reaction (PCR)-direct sequencing analysis.
|
8168829 |
1994 |
|
Acute intermittent porphyria
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Previous haplotype analysis combined with genealogical data suggested a common origin of the PBGD gene mutation in the AIP families originating from northern Sweden (Lappland), where the highest prevalence of the disease (1 in 1500) is observed.
|
1961762 |
1991 |
|
Acute intermittent porphyria
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
An inherited deficiency of porphobilinogen deaminase [porphobilinogen ammonia-lyase (polymerizing), EC 4.3.1.8] in humans is responsible for the autosomal dominant disease acute intermittent porphyria.
|
2563167 |
1989 |
|
Acute intermittent porphyria
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Three splicing defects (IVS1+3G-->T, 86A-->T, IVS13-2A-->G), an insertion (416insCA), and two missense mutations (664G-->A and 833T-->G) in the porphobilinogen deaminase (PBGD) gene were identified in six unrelated Finnish patients with acute intermittent porphyria (AIP).
|
9654202 |
1998 |
|
Acute intermittent porphyria
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
To investigate the dramatically different manifestations, knock-in mice with human HD-AIP missense mutations c.500G>A (p.Arg167Glu) or c.518_519GC>AG (p.Arg173Glu), designated R167Q or R173Q mice, respectively, were generated and compared with the previously established T1/T2 mice with ~30% residual HMBS activity and the heterozygous AIP phenotype.
|
30615115 |
2019 |
|
Acute intermittent porphyria
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
The present communication encompasses the great majority of AIP kindreds in Sweden and includes a further 27 mutations within the PBGD gene.
|
12372055 |
2002 |
|
Acute intermittent porphyria
|
1.000 |
AlteredExpression
|
disease |
BEFREE |
Acute intermittent porphyria (AIP), due to half-normal hydroxymethylbilane synthase activity,is characterized by acute life-threatening neurologic attacks whose etiology remains unclear.
|
15534187 |
2004 |
|
Acute intermittent porphyria
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Porphobilinogen deaminase mutants that cause acute intermittent porphyria have been investigated as recombinant proteins expressed in Escherichia coli, yielding important insight into the mechanism of dipyrromethane cofactor assembly and tetrapyrrole chain polymerization.
|
12773194 |
2003 |
|
Acute intermittent porphyria
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Our results demonstrate the allelic heterogeneity of HMBS mutations in AIP patients of German origin.
|
10657149 |
1999 |
|
Acute intermittent porphyria
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Knowledge of the nature of the HMBS mutations causing AIP in Spanish families is very limited.
|
15469427 |
2004 |
|
Acute intermittent porphyria
|
1.000 |
GeneticVariation
|
disease |
LHGDN |
To study the origin of these common CpG mutations, eight intragenic single-nucleotide polymorphisms (SNPs) in the PBGD gene, as well as eight microsatellites flanking the gene in chromosome 11 were used to construct haplotypes in six AIP families of German, Polish and Swiss origins who carried either G111R (4707G>A) or R173Q (6391G>A) mutations.
|
15669678 |
2004 |
|
Acute intermittent porphyria
|
1.000 |
Biomarker
|
disease |
CTD_human |
Acute intermittent porphyria has hitherto been recognised as an autosomal dominant inborn error of haem metabolism characterised by a depressed activity of the enzyme uroporphyrinogen I synthase (URO.S).
|
6132132 |
1983 |
|
Acute intermittent porphyria
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Since biochemical diagnosis is problematic, the identification of hydroxymethylbilane synthase mutations has facilitated the detection of AIP heterozygotes.
|
7962538 |
1994 |
|
Acute intermittent porphyria
|
1.000 |
Biomarker
|
disease |
BEFREE |
A mouse model that is partially deficient in PBGD and biochemically mimics AIP after induction of the hepatic ALA synthase by phenobarbital was used in this study to identify the site of formation of the presumably toxic porphyrin precursors and study the effect of enzyme-replacement therapy by using recombinant human PBGD (rhPBGD).
|
15208740 |
2005 |
|
Acute intermittent porphyria
|
1.000 |
Biomarker
|
disease |
BEFREE |
The three-dimensional structures of mutants of porphobilinogen deaminase: toward an understanding of the structural basis of acute intermittent porphyria.
|
7849582 |
1994 |
|
Acute intermittent porphyria
|
1.000 |
Biomarker
|
disease |
BEFREE |
Non-viral gene transfer was also undertaken in PBGD-deficient fibroblasts established from an AIP patient.
|
12004925 |
2002 |
|
Acute intermittent porphyria
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Molecular analysis of the hydroxymethylbilane synthase (HMBS) gene in Italian patients with acute intermittent porphyria: report of four novel mutations.
|
10790212 |
2000 |
|
Acute intermittent porphyria
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Two deletion mutations in the hydroxymethylbilane synthase gene in two unrelated Japanese patients with acute intermittent porphyria.
|
10944860 |
2000 |
|
Acute intermittent porphyria
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Our results demonstrate the allelic heterogeneity of HMBS mutations in AIP patients of German origin.
|
10657149 |
1999 |
|
Acute intermittent porphyria
|
1.000 |
AlteredExpression
|
disease |
BEFREE |
Genetic regulation of the red cell uroporphyrinogen-I-synthetase level in families with acute intermittent porphyria.
|
6652953 |
1983 |
|
Acute intermittent porphyria
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
AIP is diagnosed on the basis of characteristic clinical symptoms, elevated levels of urinary porphyrin precursors aminolevulinic acid (ALA) and porphobilinogen (PBG) and a decreased erythrocytic HMBS activity, although an identifiable HMBS mutation provides the ultimate proof for AIP.
|
19138865 |
2009 |