(Q35765036)

10 August 2017

title

Somatic deletion of the 5' ends of both the COL4A5 and COL4A6 genes in a sporadic leiomyoma of the esophagus (English)

1 reference

10 August 2017

1 reference

L Heidet

1

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10 August 2017

E Boye

2

1 reference

10 August 2017

Y Cai

3

1 reference

10 August 2017

Y Sado

4

1 reference

10 August 2017

X Zhang

5

1 reference

10 August 2017

J F Fléjou

6

1 reference

10 August 2017

F Fékété

7

1 reference

10 August 2017

Y Ninomiya

8

1 reference

10 August 2017

M C Gubler

9

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10 August 2017

C Antignac

10

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10 August 2017

language of work or name

English

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publication date

1 March 1998

1 reference

The American Journal of Pathology

10 August 2017

published in

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10 August 2017

volume

152

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10 August 2017

issue

3

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10 August 2017

page(s)

673-678

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Molecular genetics of Alport syndrome

10 August 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1858389

Homozygous somatic Wt1 point mutations in sporadic unilateral Wilms tumor

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1858389

Alteration in a new gene encoding a putative membrane-organizing protein causes neuro-fibromatosis type 2

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1858389

Deletion of the paired alpha 5(IV) and alpha 6(IV) collagen genes in inherited smooth muscle tumors

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1858389

Alport-leiomyomatosis syndrome: an update

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1858389

Complete primary structure of the sixth chain of human basement membrane collagen, alpha 6(IV). Isolation of the cDNAs for alpha 6(IV) and comparison with five other type IV collagen chains

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1858389

Somatic mutations of the von Hippel-Lindau disease tumour suppressor gene in non-familial clear cell renal carcinoma

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1858389

Sequence and tissue distribution of the human integrin alpha 8 subunit: a beta 1-associated alpha subunit expressed in smooth muscle cells

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1858389

Differential expression of two basement membrane collagen genes, COL4A6 and COL4A5, demonstrated by immunofluorescence staining using peptide-specific monoclonal antibodies

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1858389

Isolation and Structure of the COL4A6 Gene Encoding the Human α6(IV) Collagen Chain and Comparison with Other Type IV Collagen Genes

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1858389

Esophageal leiomyoma in children: two case reports and review of the literature

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1858389

Somatic mutations in the neurofibromatosis 1 gene in human tumors

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1858389

Complete amino acid sequence of the human alpha 5 (IV) collagen chain and identification of a single-base mutation in exon 23 converting glycine 521 in the collagenous domain to cysteine in an Alport syndrome patient

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1858389

A mutation in the RET proto-oncogene associated with multiple endocrine neoplasia type 2B and sporadic medullary thyroid carcinoma

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1858389

An integrated metric physical map of human chromosome 19.

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1858389

Immunochemical studies of the Alport antigen

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1858389

Somatic mutations in the neurofibromatosis 1 gene in gliomas and primitive neuroectodermal tumours.

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1858389

Esophageal squamous cell carcinoma occurring in the surface epithelium over a benign tumor

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1858389

YAC contigs mapping the human COL4A5 and COL4A6 genes and DXS118 within Xq21.3–q22

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1858389

Leiomyoma of the esophagus

25 September 2018

1 reference

12 December 2020

Diffuse leiomyomatosis associated with X-linked Alport syndrome: extracellular matrix study using immunohistochemistry and in situ hybridization

1 reference

12 December 2020

Familial multiple upper gastrointestinal leiomyoma

1 reference

12 December 2020

Achalasia due to diffuse esophageal leiomyomatosis and inherited as an autosomal dominant disorder. Report of a family study

1 reference

12 December 2020

Renal entactin (nidogen): isolation, characterization and tissue distribution

1 reference

12 December 2020

Recurrent chromosome aberrations in abdominal smooth muscle tumors

1 reference

12 December 2020

Alport syndrome and diffuse leiomyomatosis: Deletions in the 5′ end of the COL4A5 collagen gene

1 reference

12 December 2020

Somatic NF2 gene mutations in familial and non-familial vestibular schwannoma

1 reference

12 December 2020

Analysis of androgen receptor DNA reveals the independent clonal origins of uterine leiomyomata and the secondary nature of cytogenetic aberrations in the development of leiomyomata

1 reference

12 December 2020

Deletions of both alpha 5(IV) and alpha 6(IV) collagen genes in Alport syndrome and in Alport syndrome associated with smooth muscle tumours

1 reference

12 December 2020

The Coexistence of Esophageal Submucosal Tumor and Carcinoma

1 reference

12 December 2020

Smooth muscle tumors associated with X-linked Alport syndrome: carrier detection in females

1 reference

12 December 2020

Identifiers

PMC publication ID

1858389

1 reference

10 August 2017

1 reference