(Q39125751)

English

Identification of 58 novel mutations in Niemann-Pick disease type C: correlation with biochemical phenotype and importance of PTC1-like domains in NPC1.

scientific article published on October 2003

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Europe PubMed Central

PubMed publication ID

9 September 2017

Identification of 58 novel mutations in Niemann-Pick disease type C: correlation with biochemical phenotype and importance of PTC1-like domains in NPC1. (English)

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Europe PubMed Central

PubMed publication ID

9 September 2017

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Niemann-Pick disease

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Niemann-Pick disease, type C1

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Marc C. Patterson

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9 September 2017

author name string

Walter D Park

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9 September 2017

John F O'Brien

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9 September 2017

Patrick A Lundquist

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9 September 2017

Daniel L Kraft

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9 September 2017

Cate Walsh Vockley

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9 September 2017

Pamela S Karnes

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9 September 2017

Karen Snow

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9 September 2017

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1 October 2003

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9 September 2017

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9 September 2017

22

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9 September 2017

4

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9 September 2017

313-325

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9 September 2017

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Nine cases of sphingomyelin lipidosis, a new variant in Spanish-American Children. Juvenile variant of Niemann-Pick Disease with foamy and sea-blue histiocytes

1 reference

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21 January 2018

Identification of mutations in the human PATCHED gene in sporadic basal cell carcinomas and in patients with the basal cell nevus syndrome

1 reference

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7 January 2021

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NPC1: Complete genomic sequence, mutation analysis, and characterization of haplotypes

1 reference

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7 January 2021

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Defective endocytic trafficking of NPC1 and NPC2 underlying infantile Niemann-Pick type C disease

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7 January 2021

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The metabolism of sphingomyelin. II. Evidence of an enzymatic deficiency in Niemann-Pick diseae

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7 January 2021

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Niemann-Pick C1 disease gene: homology to mediators of cholesterol homeostasis

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https://api.crossref.org/works/10.1002%2FHUMU.10255

7 January 2021

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Niemann-Pick disease: a review of eighteen patients.

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Evidence for a Niemann-pick C (NPC) gene family: identification and characterization of NPC1L1.

1 reference

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7 January 2021

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1 reference

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7 January 2021

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Transmembrane molecular pump activity of Niemann-Pick C1 protein

1 reference

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Mutation nomenclature extensions and suggestions to describe complex mutations: a discussion

1 reference

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7 January 2021

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Genetic testing: the problems and the promise

1 reference

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7 January 2021

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Conformation-sensitive gel electrophoresis for rapid detection of single-base differences in double-stranded PCR products and DNA fragments: evidence for solvent-induced bends in DNA heteroduplexes

1 reference

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7 January 2021

based on heuristic

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The Nova Scotia (type D) form of Niemann-Pick disease is caused by a G3097-->T transversion in NPC1.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10255

7 January 2021

based on heuristic

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Mutations in NPC1 highlight a conserved NPC1-specific cysteine-rich domain

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10255

7 January 2021

based on heuristic

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Identification of novel mutations in the NPC1 gene in German patients with Niemann-Pick C disease

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10255

7 January 2021

based on heuristic

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A mutation in CFTR produces different phenotypes depending on chromosomal background

1 reference

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7 January 2021

based on heuristic

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Frontal lobe atrophy due to a mutation in the cholesterol binding protein HE1/NPC2.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10255

7 January 2021

based on heuristic

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Comparison of conformation-sensitive gel electrophoresis and single-strand conformation polymorphism analysis for detection of mutations in the BRCA1 gene using optimized conformation analysis protocols

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10255

7 January 2021

based on heuristic

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Clinical-biochemical correlation in molecularly characterized patients with Niemann-Pick type C.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10255

7 January 2021

based on heuristic

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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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10255

7 January 2021

based on heuristic

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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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10255

7 January 2021

based on heuristic

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Niemann-Pick disease type C: spectrum of HE1 mutations and genotype/phenotype correlations in the NPC2 group

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10255

7 January 2021

based on heuristic

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The genomic organization and polymorphism analysis of the human Niemann-Pick C1 gene

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10255

7 January 2021

based on heuristic

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Identification of HE1 as the second gene of Niemann-Pick C disease

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10255

7 January 2021

based on heuristic

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Analysis of any point mutation in DNA. The amplification refractory mutation system (ARMS)

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10255

7 January 2021

based on heuristic

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Niemann-Pick type C disease: NPC1 mutations associated with severe and mild cellular cholesterol trafficking alterations

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10255

7 January 2021

based on heuristic

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Niemann-Pick C variant detection by altered sphingolipid trafficking and correlation with mutations within a specific domain of NPC1.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10255

7 January 2021

based on heuristic

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Niemann-Pick type C disease: mutations of NPC1 gene and evidence of abnormal expression of some mutant alleles in fibroblasts.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10255

7 January 2021

based on heuristic

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Correction of sphingomyelinase deficiency in Niemann-Pick type C fibroblasts by removal of lipoprotein fraction from culture media

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10255

7 January 2021

based on heuristic

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Recent advances in elucidating Niemann-Pick C disease

1 reference

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7 January 2021

based on heuristic

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Determinants of NPC1 expression and action: key promoter regions, posttranscriptional control, and the importance of a "cysteine-rich" loop

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10255

7 January 2021

based on heuristic

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Genotype-phenotype relationship of Niemann-Pick disease type C: a possible correlation between clinical onset and levels of NPC1 protein in isolated skin fibroblasts

1 reference

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7 January 2021

based on heuristic

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Identifiers

10.1002/HUMU.10255

1 reference

Europe PubMed Central

PubMed publication ID

9 September 2017

release_baicc4hmirclrekp4ftr4t6odu

1 reference

https://api.fatcat.wiki/v0/release/baicc4hmirclrekp4ftr4t6odu

24 November 2022

based on heuristic

mapped directly with Wikidata item

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

9 September 2017

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