Deficiency of prolidase
|
0.760 |
Biomarker
|
disease |
CTD_human |
Structural organization of the gene for human prolidase (peptidase D) and demonstration of a partial gene deletion in a patient with prolidase deficiency.
|
1972707 |
1990 |
Deficiency of prolidase
|
0.760 |
GeneticVariation
|
disease |
BEFREE |
Identification of mutations in the PEPD gene from subjects with prolidase deficiency provides further insight into the physiological role and structure-function relationship of this biologically important enzyme.
|
2010534 |
1991 |
Deficiency of prolidase
|
0.760 |
GeneticVariation
|
disease |
UNIPROT |
A single nucleotide change in the prolidase gene in fibroblasts from two patients with polypeptide positive prolidase deficiency. Expression of the mutant enzyme in NIH 3T3 cells.
|
2365824 |
1990 |
Deficiency of prolidase
|
0.760 |
GeneticVariation
|
disease |
UNIPROT |
Our results indicate that the severe form of prolidase deficiency is caused by multiple PEPD alleles.
|
8198124 |
1994 |
Deficiency of prolidase
|
0.760 |
CausalMutation
|
disease |
CLINVAR |
Our results indicate that the severe form of prolidase deficiency is caused by multiple PEPD alleles.
|
8198124 |
1994 |
Deficiency of prolidase
|
0.760 |
CausalMutation
|
disease |
CLINVAR |
Expression and molecular analysis of mutations in prolidase deficiency.
|
8900231 |
1996 |
Deficiency of prolidase
|
0.760 |
GeneticVariation
|
disease |
UNIPROT |
Expression and molecular analysis of mutations in prolidase deficiency.
|
8900231 |
1996 |
Deficiency of prolidase
|
0.760 |
CausalMutation
|
disease |
CLINVAR |
Mutation analysis of five new patients affected by prolidase deficiency: the lack of enzyme activity causes necrosis-like cell death in cultured fibroblasts.
|
12384772 |
2002 |
Deficiency of prolidase
|
0.760 |
GeneticVariation
|
disease |
UNIPROT |
Mutation analysis of five new patients affected by prolidase deficiency: the lack of enzyme activity causes necrosis-like cell death in cultured fibroblasts.
|
12384772 |
2002 |
Deficiency of prolidase
|
0.760 |
GeneticVariation
|
disease |
CLINVAR |
Characterization of a new PEPD allele causing prolidase deficiency in two unrelated patients: natural-occurrent mutations as a tool to investigate structure-function relationship.
|
15309682 |
2004 |
Deficiency of prolidase
|
0.760 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Characterization of a new PEPD allele causing prolidase deficiency in two unrelated patients: natural-occurrent mutations as a tool to investigate structure-function relationship.
|
15309682 |
2004 |
Deficiency of prolidase
|
0.760 |
Biomarker
|
disease |
CTD_human |
A nonsense mutation of PEPD in four Amish children with prolidase deficiency.
|
16470701 |
2006 |
Deficiency of prolidase
|
0.760 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
A nonsense mutation of PEPD in four Amish children with prolidase deficiency.
|
16470701 |
2006 |
Deficiency of prolidase
|
0.760 |
GeneticVariation
|
disease |
BEFREE |
A nonsense mutation of PEPD in four Amish children with prolidase deficiency.
|
16470701 |
2006 |
Deficiency of prolidase
|
0.760 |
GeneticVariation
|
disease |
BEFREE |
A homozygous missense mutation in PEPD encoding peptidase D causes prolidase deficiency associated with hyper-IgE syndrome.
|
16681595 |
2006 |
Deficiency of prolidase
|
0.760 |
GeneticVariation
|
disease |
BEFREE |
Prolidase deficiency (PD) is a rare autosomal recessive connective tissue disorder caused by mutations in the prolidase gene.
|
17142620 |
2006 |
Deficiency of prolidase
|
0.760 |
CausalMutation
|
disease |
CLINVAR |
Molecular characterisation of six patients with prolidase deficiency: identification of the first small duplication in the prolidase gene and of a mutation generating symptomatic and asymptomatic outcomes within the same family.
|
17142620 |
2006 |
Deficiency of prolidase
|
0.760 |
GeneticVariation
|
disease |
BEFREE |
Homozygous mutations in PEPD are responsible for the autosomal-recessive prolidase deficiency which resembles HIES in some aspects.
|
18000661 |
2007 |
Deficiency of prolidase
|
0.760 |
GermlineCausalMutation
|
disease |
ORPHANET |
Prolidase deficiency is a rare recessive disorder caused by mutations in the prolidase gene and characterized by severe skin lesions.
|
18340504 |
2008 |
Deficiency of prolidase
|
0.760 |
CausalMutation
|
disease |
CLINVAR |
A broad spectrum of developmental delay in a large cohort of prolidase deficiency patients demonstrates marked interfamilial and intrafamilial phenotypic variability.
|
19308961 |
2010 |
Deficiency of prolidase
|
0.760 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
A broad spectrum of developmental delay in a large cohort of prolidase deficiency patients demonstrates marked interfamilial and intrafamilial phenotypic variability.
|
19308961 |
2010 |
Deficiency of prolidase
|
0.760 |
GeneticVariation
|
disease |
BEFREE |
We report a novel 3 bp insertion in the 12th exon of the PEPD gene in two Kashmiri siblings with prolidase deficiency phenotype.
|
23287645 |
2013 |
Deficiency of prolidase
|
0.760 |
GeneticVariation
|
disease |
CLINVAR |
Kinetic and structural evidences on human prolidase pathological mutants suggest strategies for enzyme functional rescue.
|
23516557 |
2013 |
Deficiency of prolidase
|
0.760 |
CausalMutation
|
disease |
CLINVAR |
Kinetic and structural evidences on human prolidase pathological mutants suggest strategies for enzyme functional rescue.
|
23516557 |
2013 |
Deficiency of prolidase
|
0.760 |
CausalMutation
|
disease |
CLINVAR |
Hyperbaric oxygen therapy in the management of severe leg ulcers from prolidase deficiency.
|
28062424 |
2017 |