Mutation analysis of PEX7 in 60 probands with rhizomelic chondrodysplasia punctata and functional correlations of genotype with phenotype (Q55670954)

2

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Paul Lin

3

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Cassandra Obie

4

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Gary Steel

5

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Pamela Douglas

6

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Pranesh K Chakraborty

7

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Joe T R Clarke

8

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Avihu Boneh

9

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Ann Moser

10

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Hugo Moser

11

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David Valle

Human PEX7 encodes the peroxisomal PTS2 receptor and is responsible for rhizomelic chondrodysplasia punctata

12

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language of work or name

English

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publication date

October 2002

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published in

Human Mutation

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volume

20

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page(s)

284-97

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issue

4

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cites work

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An isoform of pex5p, the human PTS1 receptor, is required for the import of PTS2 proteins into peroxisomes

21 January 2018

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PEX7 gene structure, alternative transcripts, and evidence for a founder haplotype for the frequent RCDP allele, L292ter.

21 January 2018

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Introns are cis effectors of the nonsense-codon-mediated reduction in nuclear mRNA abundance

21 January 2018

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Measurement of very long-chain fatty acids, phytanic and pristanic acid in plasma and cultured fibroblasts by gas chromatography.

21 January 2018

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Assay of plasmalogens and polyunsaturated fatty acids (PUFA) in erythrocytes and fibroblasts.

21 January 2018

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A unified nomenclature for peroxisome biogenesis factors

21 January 2018

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Peroxisomal targeting signal-1 recognition by the TPR domains of human PEX5

21 January 2018

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Mutational analysis of the N-terminal topogenic signal of watermelon glyoxysomal malate dehydrogenase using the heterologous host Hansenula polymorpha

21 January 2018

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https://api.crossref.org/works/10.1002%2FHUMU.10124

A conserved tripeptide sorts proteins to peroxisomes

21 January 2018

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Identification of a structural motif that confers specific interaction with the WD40 repeat domain of Arabidopsis COP1.

21 January 2018

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Refsum disease is caused by mutations in the phytanoyl-CoA hydroxylase gene

21 January 2018

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Selection of gbeta subunits with point mutations that fail to activate specific signaling pathways in vivo: dissecting cellular responses mediated by a heterotrimeric G protein in Dictyostelium discoideum

21 January 2018

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Residues in the WD repeats of Tup1 required for interaction with alpha2.

21 January 2018

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Compilation and analysis of sequences upstream from the translational start site in eukaryotic mRNAs

21 January 2018

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Sites for Galpha binding on the G protein beta subunit overlap with sites for regulation of phospholipase Cbeta and adenylyl cyclase

21 January 2018

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Identification of PAHX, a Refsum disease gene

21 January 2018

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https://api.crossref.org/works/10.1002%2FHUMU.10124

Differential protein import deficiencies in human peroxisome assembly disorders

21 January 2018

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https://api.crossref.org/works/10.1002%2FHUMU.10124

Rhizomelic chondrodysplasia punctata is a peroxisomal protein targeting disease caused by a non-functional PTS2 receptor

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10124

Mutational spectrum in the PEX7 gene and functional analysis of mutant alleles in 78 patients with rhizomelic chondrodysplasia punctata type 1.

21 January 2018

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Intracellular localization, function, and dysfunction of the peroxisome-targeting signal type 2 receptor, Pex7p, in mammalian cells

21 January 2018

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The ancient regulatory-protein family of WD-repeat proteins

21 January 2018

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A strategy for disease gene identification through nonsense-mediated mRNA decay inhibition

21 January 2018

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Peroxisomal protein targeting and identification of peroxisomal targeting signals in cholesterol biosynthetic enzymes

21 January 2018

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Peroxisome targeting signal type 1 (PTS1) receptor is involved in import of both PTS1 and PTS2: studies with PEX5-defective CHO cell mutants

21 January 2018

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Sites important for PLCbeta2 activation by the G protein betagamma subunit map to the sides of the beta propeller structure

21 January 2018

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https://api.crossref.org/works/10.1002%2FHUMU.10124

A new type of chondrodysplasia punctata associated with peroxisomal dysfunction

21 January 2018

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Rhizomelic chondrodysplasia punctata is caused by deficiency of human PEX7, a homologue of the yeast PTS2 receptor

21 January 2018

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21 January 2018

Sterol carrier protein-2

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RNA splice junctions of different classes of eukaryotes: sequence statistics and functional implications in gene expression

21 January 2018

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Association of a human G-protein beta3 subunit variant with hypertension

21 January 2018

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The WD repeat: a common architecture for diverse functions

21 January 2018

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Crystal structure of a G-protein beta gamma dimer at 2.1A resolution

21 January 2018

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Structure of the C-terminal domain of Tup1, a corepressor of transcription in yeast

21 January 2018

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Frameshift mutations and the genetic code. This paper is dedicated to Professor Theodosius Dobzhansky on the occasion of his 66th birthday

21 January 2018

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https://api.crossref.org/works/10.1002%2FHUMU.10124

Synthesis of plasmalogens in eye lens epithelial cells

21 January 2018

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https://api.crossref.org/works/10.1002%2FHUMU.10124

Isoprenoid biosynthesis is not compromised in a Zellweger syndrome mouse model

21 January 2018

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https://api.crossref.org/works/10.1002%2FHUMU.10124

The structure of the G protein heterotrimer Gi alpha 1 beta 1 gamma 2

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10124

Human dihydroxyacetonephosphate acyltransferase deficiency: a new peroxisomal disorder

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10124

Synthesis of mevalonate pathway lipids in fibroblasts from Zellweger and X-linked ALD patients

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10124

7 January 2021

Variant rhizomelic chondrodysplasia punctata (RCDP) with normal plasma phytanic acid: clinico-biochemical delineation of a subtype and complementation studies

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10124

7 January 2021

The skipping of constitutive exons in vivo induced by nonsense mutations

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10124

7 January 2021

Ultrastructure and immunocytochemistry of hepatic peroxisomes in rhizomelic chondrodysplasia punctata

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10124

7 January 2021

Phenotype of patients with peroxisomal disorders subdivided into sixteen complementation groups

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10124

7 January 2021

Chondrodysplasia punctata with a mild clinical course

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10124

7 January 2021

A novel nonsense mutation of the PEX7 gene in a patient with rhizomelic chondrodysplasia punctata

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10124

7 January 2021

Bone dysplasia associated with phytanic acid accumulation and deficient plasmalogen synthesis: a peroxisomal entity amenable to plasmapheresis

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https://api.crossref.org/works/10.1002%2FHUMU.10124

7 January 2021

Peroxisomal disorders: clinical and biochemical studies in 15 children and prenatal diagnosis in 7 families

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10124

7 January 2021

Human alkyldihydroxyacetonephosphate synthase deficiency: a new peroxisomal disorder

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https://api.crossref.org/works/10.1002%2FHUMU.10124

7 January 2021

Identification of genetic heterogeneity in Refsum's disease

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10124

7 January 2021