Cutis Laxa
|
0.660 |
GeneticVariation
|
disease |
BEFREE |
Clinical data pointed out that homozygotic or heterozygotic mutation in the pyrroline-5-carboxylate reductase 1 (<i>PYCR1</i>) gene in humans caused cutis laxa (ARCL) disease, with progeroid appearance, lax and wrinkled skin, joint laxity, osteopenia, and mental retardation phenotypes.
|
31091804 |
2019 |
Cutis Laxa
|
0.660 |
GeneticVariation
|
disease |
BEFREE |
Our study provides novel insight into the deleterious effects of the R119G and G206W mutations on P5CR, and sheds light on the mechanisms by which these mutations mediate Cutis Laxa.
|
27677826 |
2017 |
Cutis Laxa
|
0.660 |
GeneticVariation
|
disease |
BEFREE |
Three of the autosomal recessive cutis laxa syndromes, namely cutis laxa IIA (ARCL2A), cutis laxa IIB (ARCL2B), and geroderma osteodysplastica (GO), have very similar clinical features, complicating accurate diagnosis.
|
28294978 |
2017 |
Cutis Laxa
|
0.660 |
GeneticVariation
|
disease |
BEFREE |
Our study provides insight into the possible role of the R119G mutation during interactions between P5CR and NAD, thus bettering our understanding of how the mutation promotes cutis laxa.
|
28095341 |
2017 |
Cutis Laxa
|
0.660 |
CausalMutation
|
disease |
CLINVAR |
Congenital Cutis Laxa Type 2 Associated With Recurrent Aspiration Pneumonia and Growth Delay: Case Report.
|
26516448 |
2015 |
Cutis Laxa
|
0.660 |
GeneticVariation
|
disease |
BEFREE |
Cutis laxa type II with mutation in the pyrroline-5-carboxylate reductase 1 gene.
|
23406396 |
2014 |
Cutis Laxa
|
0.660 |
CausalMutation
|
disease |
CLINVAR |
Genotype-phenotype spectrum of PYCR1-related autosomal recessive cutis laxa.
|
24035636 |
2013 |
Cutis Laxa
|
0.660 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Comprehensive clinical and molecular analysis of 12 families with type 1 recessive cutis laxa.
|
22829427 |
2013 |
Cutis Laxa
|
0.660 |
CausalMutation
|
disease |
CLINVAR |
Mutation in pyrroline-5-carboxylate reductase 1 gene in families with cutis laxa type 2.
|
19576563 |
2009 |
Cutis Laxa
|
0.660 |
CausalMutation
|
disease |
CLINVAR |
Mutations in PYCR1 cause cutis laxa with progeroid features.
|
19648921 |
2009 |
Cutis Laxa
|
0.660 |
Biomarker
|
disease |
CTD_human |
Mutations in PYCR1 cause cutis laxa with progeroid features.
|
19648921 |
2009 |
Cutis Laxa
|
0.660 |
GeneticVariation
|
disease |
CLINVAR |
Mutations in PYCR1 cause cutis laxa with progeroid features.
|
19648921 |
2009 |
Cutis Laxa
|
0.660 |
GeneticVariation
|
disease |
BEFREE |
Mutation in pyrroline-5-carboxylate reductase 1 gene in families with cutis laxa type 2.
|
19576563 |
2009 |
Cutis Laxa
|
0.660 |
Biomarker
|
disease |
HPO |
|
|
|