Mutations in capillary morphogenesis gene-2 result in the allelic disorders juvenile hyaline fibromatosis and infantile systemic hyalinosis (Q24532794)

4 July 2017

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Mutations in capillary morphogenesis gene-2 result in the allelic disorders juvenile hyaline fibromatosis and infantile systemic hyalinosis (English)

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Juvenile hyaline fibromatosis

4 July 2017

1 reference

1 reference

Infantile systemic hyalinosis

inferred from title

1 reference

6

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Hulya Kayserili

7

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Amy S. Paller

object named as

Amy S Paller

9

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Memnune Yüksel-Apak

8

object named as

Memnune Yuksel-Apak

1 reference

4 July 2017

Oonagh Dowling

1

1 reference

4 July 2017

Analisa Difeo

2

1 reference

4 July 2017

Maria C Ramirez

3

1 reference

4 July 2017

Turgut Tukel

4

1 reference

4 July 2017

Goutham Narla

5

1 reference

4 July 2017

Karen Norton

10

1 reference

4 July 2017

Ahmad S Teebi

11

1 reference

4 July 2017

Valerie Grum-Tokars

12

1 reference

4 July 2017

Gail S Martin

13

1 reference

4 July 2017

George E Davis

14

1 reference

4 July 2017

Marc J Glucksman

15

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4 July 2017

John A Martignetti

16

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4 July 2017

Luisa Bonafe

6

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4 July 2017

Hulya Kayserili

7

1 reference

4 July 2017

language of work or name

English

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publication date

12 September 2003

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American Journal of Human Genetics

4 July 2017

published in

1 reference

4 July 2017

volume

73

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4 July 2017

issue

4

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4 July 2017

page(s)

957-966

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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=1180616

Distribution and evolution of von Willebrand/integrin A domains: widely dispersed domains with roles in cell adhesion and elsewhere

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180616

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=1180616

Form and function: the laminin family of heterotrimers

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180616

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180616

A homozygous mutation in the integrin alpha6 gene in junctional epidermolysis bullosa with pyloric atresia

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180616

Buried water molecules contribute to the conformational stability of a protein

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180616

Raster3D: photorealistic molecular graphics

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180616

Improved methods for building protein models in electron density maps and the location of errors in these models

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180616

Integrin beta 4 mutations associated with junctional epidermolysis bullosa with pyloric atresia

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180616

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=1180616

Bone morphogenetic protein-3 is a negative regulator of bone density

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180616

FGF5 as a regulator of the hair growth cycle: evidence from targeted and spontaneous mutations

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180616

A high-resolution recombination map of the human genome

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180616

Epithelial mesenchymal interactions, the ECM and limb development

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180616

Domain structure and organisation in extracellular matrix proteins.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180616

Nonmuscle myosin heavy chain IIA mutations define a spectrum of autosomal dominant macrothrombocytopenias: May-Hegglin anomaly and Fechtner, Sebastian, Epstein, and Alport-like syndromes.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180616

Mutations in the region encoding the von Willebrand factor A domain of matrilin-3 are associated with multiple epiphyseal 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=1180616

Functional interplay between type I collagen and cell surface matrix metalloproteinase activity

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180616

Infantile systemic hyalinosis in siblings: clinical report, biochemical and ultrastructural findings, 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=1180616

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=1180616

Laminins and human disease

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180616

27 September 2017

Laminins: an overview

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180616

Mutation analysis and molecular genetics of epidermolysis bullosa

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180616

Juvenile hyaline fibromatosis: two new patients 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=1180616

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

27 September 2017

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/12973667

12 December 2020

inferred from PubMed ID database lookup

A frameshift mutation at Gly975 in the transmembrane domain of GPIIb prevents GPIIb-IIIa expression--analysis of two novel mutations in a kindred with type I glanzmann thrombasthenia

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/12973667

12 December 2020

inferred from PubMed ID database lookup

Juvenile hyaline fibromatosis: clinical heterogeneity in three patients

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/12973667

12 December 2020

inferred from PubMed ID database lookup

Identifiers

DOI

10.1086/378781

1 reference

4 July 2017

1 reference

4 July 2017

1 reference