present in Gene: NPC1
present in Chromosome: 18
Position on Chromosome: 23556358
Alleles of this Variant: C/T
rs139751448 in
NPC1 gene and
Niemann-Pick Disease, Type C
PMID 12955717 2003 Identification of 58 novel mutations in Niemann-Pick disease type C: correlation with biochemical phenotype and importance of PTC1-like domains in NPC1.
PMID 11545687 2002 Clinical-biochemical correlation in molecularly characterized patients with Niemann-Pick type C.
PMID 11349231 2001 Niemann-Pick C variant detection by altered sphingolipid trafficking and correlation with mutations within a specific domain of NPC1.
PMID 19744920 2010 The National Niemann-Pick Type C1 Disease Database: correlation of lipid profiles, mutations, and biochemical phenotypes.
PMID 11333381 2001 Niemann-Pick C1 disease: correlations between NPC1 mutations, levels of NPC1 protein, and phenotypes emphasize the functional significance of the putative sterol-sensing domain and of the cysteine-rich luminal loop.
PMID 26981555 2016 Rapid Diagnosis of 83 Patients with Niemann Pick Type C Disease and Related Cholesterol Transport Disorders by Cholestantriol Screening.
rs139751448 in
NPC1 gene and
Niemann-Pick Disease, Type C1
PMID 12408188 2002 Identification of novel mutations in the NPC1 gene in German patients with Niemann-Pick C disease.
PMID 11754101 2002 NPC1: Complete genomic sequence, mutation analysis, and characterization of haplotypes.
PMID 12401890 2002 Niemann-Pick type C disease: mutations of NPC1 gene and evidence of abnormal expression of some mutant alleles in fibroblasts.
PMID 9634529 1998 The Nova Scotia (type D) form of Niemann-Pick disease is caused by a G3097-->T transversion in NPC1.
PMID 15774455 2005 Six novel NPC1 mutations in Chinese patients with Niemann-Pick disease type C.
PMID 22065762 2011 Niemann-Pick type C 1 function requires lumenal domain residues that mediate cholesterol-dependent NPC2 binding.
PMID 12554680 2003 Defective endocytic trafficking of NPC1 and NPC2 underlying infantile Niemann-Pick type C disease.
PMID 12955717 2003 Identification of 58 novel mutations in Niemann-Pick disease type C: correlation with biochemical phenotype and importance of PTC1-like domains in NPC1.
PMID 27238017 2016 Structural Insights into the Niemann-Pick C1 (NPC1)-Mediated Cholesterol Transfer and Ebola Infection.
PMID 11545687 2002 Clinical-biochemical correlation in molecularly characterized patients with Niemann-Pick type C.
PMID 16098014 2005 Identification of 25 new mutations in 40 unrelated Spanish Niemann-Pick type C patients: genotype-phenotype correlations.
PMID 26666848 2015 Observational cohort study of the natural history of Niemann-Pick disease type C in the UK: a 5-year update from the UK clinical database.
PMID 11479732 2001 Niemann-Pick type C disease: NPC1 mutations associated with severe and mild cellular cholesterol trafficking alterations.
PMID 16802107 2006 Subclinical course of adult visceral Niemann-Pick type C1 disease. A rare or underdiagnosed disorder?
PMID 9211849 1997 Niemann-Pick C1 disease gene: homology to mediators of cholesterol homeostasis.
PMID 27581084 2016 Ataxia, dystonia and myoclonus in adult patients with Niemann-Pick type C.
PMID 16126423 2006 Niemann-Pick C disease: use of denaturing high performance liquid chromatography for the detection of NPC1 and NPC2 genetic variations and impact on management of patients and families.
PMID 10521297 1999 Niemann-Pick C1 disease: the I1061T substitution is a frequent mutant allele in patients of Western European descent and correlates with a classic juvenile phenotype.
PMID 27139891 2016 Identification of novel bile acids as biomarkers for the early diagnosis of Niemann-Pick C disease.
PMID 11182931 2000 Genotype-phenotype relationship of Niemann-Pick disease type C: a possible correlation between clinical onset and levels of NPC1 protein in isolated skin fibroblasts.
PMID 11333381 2001 Niemann-Pick C1 disease: correlations between NPC1 mutations, levels of NPC1 protein, and phenotypes emphasize the functional significance of the putative sterol-sensing domain and of the cysteine-rich luminal loop.
PMID 10521290 1999 Mutations in NPC1 highlight a conserved NPC1-specific cysteine-rich domain.
PMID 10480349 1999 NPC1 gene mutations in Japanese patients with Niemann-Pick disease type C.
PMID 11349231 2001 Niemann-Pick C variant detection by altered sphingolipid trafficking and correlation with mutations within a specific domain of NPC1.
PMID 26981555 2016 Rapid Diagnosis of 83 Patients with Niemann Pick Type C Disease and Related Cholesterol Transport Disorders by Cholestantriol Screening.