(Q24631099)

English

Mutations within a furin consensus sequence block proteolytic release of ectodysplasin-A and cause X-linked hypohidrotic ectodermal dysplasia

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scholarly article

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Mutations within a furin consensus sequence block proteolytic release of ectodysplasin-A and cause X-linked hypohidrotic ectodermal dysplasia (English)

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1 reference

based on heuristic

inferred from title

hypohidrotic ectodermal dysplasia

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based on heuristic

inferred from title

author name string

Y Chen

1

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S S Molloy

2

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L Thomas

3

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J Gambee

4

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H P Bächinger

5

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B Ferguson

6

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J Zonana

7

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G Thomas

8

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N P Morris

9

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language of work or name

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publication date

19 June 2001

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Proceedings of the National Academy of Sciences of the United States of America

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98

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7218-23

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13

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A novel X-linked disorder of immune deficiency and hypohidrotic ectodermal dysplasia is allelic to incontinentia pigmenti and due to mutations in IKK-gamma (NEMO)

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=34649

7 April 2017

Two-amino acid molecular switch in an epithelial morphogen that regulates binding to two distinct receptors

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=34649

7 April 2017

Ectodysplasin is a collagenous trimeric type II membrane protein with a tumor necrosis factor-like domain and co-localizes with cytoskeletal structures at lateral and apical surfaces of cells

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=34649

7 April 2017

Mutations in the human homologue of mouse dl cause autosomal recessive and dominant hypohidrotic ectodermal dysplasia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=34649

7 April 2017

BAFF, a novel ligand of the tumor necrosis factor family, stimulates B cell growth

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=34649

7 April 2017

Identification of a new splice form of the EDA1 gene permits detection of nearly all X-linked hypohidrotic ectodermal dysplasia mutations

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=34649

7 April 2017

Furin: a mammalian subtilisin/Kex2p-like endoprotease involved in processing of a wide variety of precursor proteins

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=34649

7 April 2017

Cloning of a disintegrin metalloproteinase that processes precursor tumour-necrosis factor-alpha

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=34649

7 April 2017

Isolation of the human PC6 gene encoding the putative host protease for HIV-1 gp160 processing in CD4+ T lymphocytes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=34649

7 April 2017

X-linked anhidrotic (hypohidrotic) ectodermal dysplasia is caused by mutation in a novel transmembrane protein

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=34649

7 April 2017

Intracellular trafficking and activation of the furin proprotein convertase: localization to the TGN and recycling from the cell surface

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=34649

7 April 2017

The crystal structure of a complement-1q family protein suggests an evolutionary link to tumor necrosis factor

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=34649

7 April 2017

Crystal structure of the soluble human 55 kd TNF receptor-human TNF beta complex: implications for TNF receptor activation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=34649

7 April 2017

The structure of tumor necrosis factor-alpha at 2.6 A resolution. Implications for receptor binding

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=34649

7 April 2017

Human fur gene encodes a yeast KEX2-like endoprotease that cleaves pro-beta-NGF in vivo

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=34649

7 April 2017

The anhidrotic ectodermal dysplasia gene (EDA) undergoes alternative splicing and encodes ectodysplasin-A with deletion mutations in collagenous repeats

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=34649

7 April 2017

A metalloproteinase disintegrin that releases tumour-necrosis factor-alpha from cells

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=34649

7 April 2017

The ectodermal dysplasia receptor activates the nuclear factor-kappaB, JNK, and cell death pathways and binds to ectodysplasin A

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=34649

7 April 2017

Proprotein and prohormone convertases: a family of subtilases generating diverse bioactive polypeptides

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=34649

7 April 2017

Ectodysplasin, a protein required for epithelial morphogenesis, is a novel TNF homologue and promotes cell-matrix adhesion

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=34649

7 April 2017

The gene defective in anhidrotic ectodermal dysplasia is expressed in the developing epithelium, neuroectoderm, thymus, and bone

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=34649

7 April 2017

A mutation of furin causes the lack of precursor-processing activity in human colon carcinoma LoVo cells

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=34649

7 April 2017

Human furin is a calcium-dependent serine endoprotease that recognizes the sequence Arg-X-X-Arg and efficiently cleaves anthrax toxin protective antigen

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=34649

7 April 2017

Bi-cycling the furin pathway: from TGN localization to pathogen activation and embryogenesis

2 references

https://api.crossref.org/works/10.1073%2FPNAS.131076098

22 April 2017

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=34649

27 September 2017

TNF signaling via the ligand-receptor pair ectodysplasin and edar controls the function of epithelial signaling centers and is regulated by Wnt and activin during tooth organogenesis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=34649

27 September 2017

Edar/Eda interactions regulate enamel knot formation in tooth morphogenesis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=34649

27 September 2017

BMP-4 is proteolytically activated by furin and/or PC6 during vertebrate embryonic development

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=34649

27 September 2017

alpha1-Antitrypsin Portland, a bioengineered serpin highly selective for furin: application as an antipathogenic agent

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=34649

27 September 2017

The Tabby phenotype is caused by mutation in a mouse homologue of the EDA gene that reveals novel mouse and human exons and encodes a protein (ectodysplasin-A) with collagenous domains

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=34649

27 September 2017

Cloning of Tabby, the murine homolog of the human EDA gene: evidence for a membrane-associated protein with a short collagenous domain.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=34649

27 September 2017

SPC4, SPC6, and the novel protease SPC7 are coexpressed with bone morphogenetic proteins at distinct sites during embryogenesis.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=34649

27 September 2017

Modulation of furin-mediated proprotein processing activity by site-directed mutagenesis.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=34649

27 September 2017

Clinical aspects of X-linked hypohidrotic ectodermal dysplasia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=34649

27 September 2017

Kex2-like endoproteases PC2 and PC3 accurately cleave a model prohormone in mammalian cells: evidence for a common core of neuroendocrine processing enzymes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=34649

27 September 2017

Methylation, mutation and cancer

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=34649

27 September 2017

Membrane protein secretases

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=34649

27 September 2017

Cusp patterning defect in Tabby mouse teeth and its partial rescue by FGF.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=34649

30 May 2018

An internally quenched fluorogenic substrate of prohormone convertase 1 and furin leads to a potent prohormone convertase inhibitor

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=34649

30 May 2018

Structure of tumour necrosis factor

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=34649

30 May 2018

Involvement of a novel Tnf receptor homologue in hair follicle induction.

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.131076098

21 January 2018

A cellular striptease act.

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.131076098

21 January 2018

How important is DNA replication for mutagenesis?

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.131076098

21 January 2018

Subtilisin-like proprotein convertase PACE4 (SPC4) is a candidate processing enzyme of bone morphogenetic proteins during tooth formation.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=34649

28 November 2018

Role of amino acid sequences flanking dibasic cleavage sites in precursor proteolytic processing. The importance of the first residue C-terminal of the cleavage site

1 reference

https://pubmed.ncbi.nlm.nih.gov/11416205

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The collagen-like peptide (GER)15GPCCG forms pH-dependent covalently linked triple helical trimers

1 reference

https://pubmed.ncbi.nlm.nih.gov/11416205

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A novel arginine-->Serine mutation in EDA1 in a Japanese family with X-linked anhidrotic ectodermal dysplasia

1 reference

https://pubmed.ncbi.nlm.nih.gov/11416205

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Use of a mixture of proteinase-free collagenases for the specific assay of radioactive collagen in the presence of other proteins

1 reference

https://pubmed.ncbi.nlm.nih.gov/11416205

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

L-ascorbic acid 2-phosphate stimulates collagen accumulation, cell proliferation, and formation of a three-dimensional tissuelike substance by skin fibroblasts

1 reference

https://pubmed.ncbi.nlm.nih.gov/11416205

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Temporal and spatial expression of alternative splice-forms of the alpha1(XI) collagen gene in fetal rat cartilage

1 reference

https://pubmed.ncbi.nlm.nih.gov/11416205

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

An essential role for ectodomain shedding in mammalian development

1 reference

https://pubmed.ncbi.nlm.nih.gov/11416205

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The gene for X-linked anhidrotic ectodermal dysplasia encodes a TNF-like domain

1 reference

https://pubmed.ncbi.nlm.nih.gov/11416205

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Quantitative characterization of furin specificity. Energetics of substrate discrimination using an internally consistent set of hexapeptidyl methylcoumarinamides

1 reference

https://pubmed.ncbi.nlm.nih.gov/11416205

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1073/PNAS.131076098

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

2001PNAS...98.7218C

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OpenCitations bibliographic resource ID

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

ResearchGate publication ID

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