(Q24532773)

4 July 2017

title

Mutations in the gene encoding capillary morphogenesis protein 2 cause juvenile hyaline fibromatosis and infantile systemic hyalinosis (English)

1 reference

Juvenile hyaline fibromatosis

4 July 2017

1 reference

1 reference

Infantile systemic hyalinosis

inferred from title

1 reference

21

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4 July 2017

19

Andrea Superti-Furga

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Laura Arbour

object named as

Laura Arbour

4

0 references

P. Andrew Futreal

20

object named as

P Andrew Futreal

1 reference

4 July 2017

Arti Nanda

15

1 reference

ORCID Public Data File 2021

Dawn Teare

16

object named as

M Dawn Teare

2 references

ORCID Public Data File 2021

4 July 2017

Sandra Hanks

1

1 reference

4 July 2017

Sarah Adams

2

1 reference

4 July 2017

Jenny Douglas

3

1 reference

4 July 2017

David J Atherton

5

1 reference

4 July 2017

Sevim Balci

6

1 reference

4 July 2017

Harald Bode

7

1 reference

4 July 2017

Mary E Campbell

8

1 reference

4 July 2017

Murray Feingold

9

1 reference

4 July 2017

Gökhan Keser

10

1 reference

4 July 2017

Wim Kleijer

11

1 reference

4 July 2017

Grazia Mancini

12

1 reference

4 July 2017

John A McGrath

13

1 reference

4 July 2017

Matthew Warman

17

1 reference

4 July 2017

F Michael Pope

18

1 reference

4 July 2017

Francesco Muntoni

14

1 reference

4 July 2017

language of work or name

English

0 references

publication date

21 August 2003

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4 July 2017

number of pages

10

1 reference

American Journal of Human Genetics

inferred from page(s)

published in

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4 July 2017

volume

73

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4 July 2017

issue

4

1 reference

4 July 2017

page(s)

791-800

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Human capillary morphogenesis protein 2 functions as an anthrax toxin receptor

4 July 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180602

The gene for juvenile hyaline fibromatosis maps to chromosome 4q21

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180602

Genes expressed in human tumor endothelium

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180602

Identification of the cellular receptor for anthrax toxin

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180602

Differential gene expression during capillary morphogenesis in 3D collagen matrices: regulated expression of genes involved in basement membrane matrix assembly, cell cycle progression, cellular differentiation and G-protein signaling

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180602

Infantile systemic hyalinosis in siblings: clinical report, biochemical and ultrastructural findings, and review of the literature

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180602

Two siblings with juvenile hyaline fibromatosis: case reports and review of the literature

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180602

Juvenile hyaline fibromatosis: impaired collagen metabolism in human skin fibroblasts

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180602

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

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180602

Infantile systemic hyalinosis in a black infant

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180602

Skin collagen defects in a patient with juvenile hyaline fibromatosis

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180602

Systemic hyalinosis (juvenile hyaline fibromatosis). Ultrastructure of the hyaline with particular reference to the cross-banded structure

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180602

Painful disseminated fibromatosis (systemic hyalinosis): a new hereditary collagen dysplasia

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180602

Two cases of juvenile hyalin fibromatosis. Some histological, electron microscopic, and tissue culture observations.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180602

Juvenile hyaline fibromatosis. A histologic and histochemical study

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180602

Selected case from the Arkadi M. Rywlin International Pathology Slide Seminar: hyaline fibromatosis.

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180602

Infantile systemic hyalinosis: newly recognized disorder of collagen?

29 November 2018

1 reference

12 December 2020

Clinical, histologic, and ultrastructural findings in two cases of infantile systemic hyalinosis

1 reference

12 December 2020

Juvenile hyaline fibromatosis: clinical heterogeneity in three patients

1 reference

12 December 2020

Systemic hyalinosis or juvenile hyaline fibromatosis. Ultrastructural and biochemical study of cultured skin fibroblasts

1 reference

12 December 2020

Fibromatosis hyalinica multiplex (juvenile hyalin fibromatosis). Light microscopic, electron microscopic, immunohistochemical, and biochemical findings

1 reference

12 December 2020

Infantile systemic hyalinosis: report of four cases of a disease, fatal in infancy, apparently different from juvenile systemic hyalinosis

1 reference

12 December 2020

Identifiers

DOI

10.1086/378418

1 reference

4 July 2017

1 reference

4 July 2017

1 reference