Topoisomerase I and II consensus sequences in a 17-kb deletion junction of the COL4A5 and COL4A6 genes and immunohistochemical analysis of esophageal leiomyomatosis associated with Alport syndrome (Q34384421)

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English	Topoisomerase I and II consensus sequences in a 17-kb deletion junction of the COL4A5 and COL4A6 genes and immunohistochemical analysis of esophageal leiomyomatosis associated with Alport syndrome	scientific article

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scholarly article

1 reference

Europe PubMed Central

1 August 2017

Topoisomerase I and II consensus sequences in a 17-kb deletion junction of the COL4A5 and COL4A6 genes and immunohistochemical analysis of esophageal leiomyomatosis associated with Alport syndrome (English)

1 reference

Europe PubMed Central

1 August 2017

immunohistochemistry

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based on heuristic

inferred from title

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based on heuristic

inferred from title

Alport syndrome

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based on heuristic

inferred from title

author name string

Ueki Y

1

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Europe PubMed Central

1 August 2017

Naito I

2

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Europe PubMed Central

1 August 2017

Oohashi T

3

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Europe PubMed Central

1 August 2017

Sugimoto M

4

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Europe PubMed Central

1 August 2017

Seki T

5

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Europe PubMed Central

1 August 2017

Yoshioka H

6

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Europe PubMed Central

1 August 2017

Sado Y

7

1 reference

Europe PubMed Central

1 August 2017

Sato H

8

1 reference

Europe PubMed Central

1 August 2017

Sawai T

9

1 reference

Europe PubMed Central

1 August 2017

Sasaki F

10

1 reference

Europe PubMed Central

1 August 2017

Matsuoka M

11

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Europe PubMed Central

1 August 2017

Fukuda S

12

1 reference

Europe PubMed Central

1 August 2017

Ninomiya Y

13

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Europe PubMed Central

1 August 2017

language of work or name

0 references

publication date

1 February 1998

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Europe PubMed Central

1 August 2017

American Journal of Human Genetics

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Europe PubMed Central

1 August 2017

62

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Europe PubMed Central

1 August 2017

2

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Europe PubMed Central

1 August 2017

253-261

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Europe PubMed Central

1 August 2017

Spectrum of mutations in the COL4A5 collagen gene in X-linked Alport syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1376880

6 July 2018

X-linked Alport syndrome: an SSCP-based mutation survey over all 51 exons of the COL4A5 gene.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1376880

6 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1376880

6 July 2018

Homologous recombination among three intragene Alu sequences causes an inversion-deletion resulting in the hereditary bleeding disorder Glanzmann thrombasthenia.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1376880

6 July 2018

Alport-leiomyomatosis syndrome: an update

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1376880

6 July 2018

Identification of a new collagen IV chain, alpha 6(IV), by cDNA isolation and assignment of the gene to chromosome Xq22, which is the same locus for COL4A5

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1376880

6 July 2018

Identification of mutations in the alpha 3(IV) and alpha 4(IV) collagen genes in autosomal recessive Alport syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1376880

6 July 2018

Mutations in the type IV collagen alpha 3 (COL4A3) gene in autosomal recessive Alport syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1376880

6 July 2018

The genes COL4A5 and COL4A6, coding for basement membrane collagen chains alpha 5(IV) and alpha 6(IV), are located head-to-head in close proximity on human chromosome Xq22 and COL4A6 is transcribed from two alternative promoters

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1376880

6 July 2018

Association between X-linked mixed deafness and mutations in the POU domain gene POU3F4

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1376880

6 July 2018

Recurrent rearrangements in the high mobility group protein gene, HMGI-C, in benign mesenchymal tumours

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1376880

6 July 2018

Sequence analysis of the breakpoint regions of an X;5 translocation in a female with Duchenne muscular dystrophy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1376880

6 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1376880

6 July 2018

Isolation and structure of the COL4A6 gene encoding the human alpha 6(IV) collagen chain and comparison with other type IV collagen genes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1376880

6 July 2018

The structure and evolution of the human beta-globin gene family

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1376880

6 July 2018

Nucleotide sequence preference at rat liver and wheat germ type 1 DNA topoisomerase breakage sites in duplex SV40 DNA

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1376880

6 July 2018

The deletion in a type of δ0-β0-thalassaemia begins in an inverted AluI repeat

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1376880

6 July 2018

Origin of the human L1 elements: proposed progenitor genes deduced from a consensus DNA sequence

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1376880

6 July 2018

Sources and evolution of human Alu repeated sequences

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1376880

6 July 2018

Mutation in LDL receptor: Alu-Alu recombination deletes exons encoding transmembrane and cytoplasmic domains

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1376880

6 July 2018

Exon-Alu recombination deletes 5 kilobases from the low density lipoprotein receptor gene, producing a null phenotype in familial hypercholesterolemia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1376880

6 July 2018

A consensus sequence for cleavage by vertebrate DNA topoisomerase II.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1376880

6 July 2018

Illegitimate recombination mediated by calf thymus DNA topoisomerase II in vitro

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1376880

6 July 2018

Molecular studies of deletions at the human steroid sulfatase locus

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1376880

6 July 2018

Molecular analysis of deletions in the human beta-globin gene cluster: deletion junctions and locations of breakpoints.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1376880

6 July 2018

Molecular analysis of X-autosome translocations in females with Duchenne muscular dystrophy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1376880

6 July 2018

Hydrated autoclave pretreatment enhances tau immunoreactivity in formalin-fixed normal and Alzheimer's disease brain tissues.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1376880

6 July 2018

Medium reiteration frequency repetitive sequences in the human genome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1376880

6 July 2018

Mechanisms of tandem duplication in the Duchenne muscular dystrophy gene include both homologous and nonhomologous intrachromosomal recombination

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1376880

6 July 2018

A Complete YAC Contig and Cosmid Interval Map Covering the Entirety of Human Xq21.33 to Xq22.3 from DXS3 to DXS287

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1376880

27 October 2018

On the formation of spontaneous deletions: The importance of short sequence homologies in the generation of large deletions

1 reference

https://pubmed.ncbi.nlm.nih.gov/9463311

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mosaicism for an intragenic deletion in a boy with mild ornithine transcarbamylase deficiency

1 reference

https://pubmed.ncbi.nlm.nih.gov/9463311

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

https://pubmed.ncbi.nlm.nih.gov/9463311

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Relationship between COL4A5 gene mutation and distribution of type IV collagen in male X-linked Alport syndrome. Japanese Alport Network

1 reference

https://pubmed.ncbi.nlm.nih.gov/9463311

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identification of a hot spot for microdeletions in patients with X- linked deafness type 3 (DFN3) 900 kb proximal to the DFN3 gene POU3F4

1 reference

https://pubmed.ncbi.nlm.nih.gov/9463311

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/9463311

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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Europe PubMed Central

1 August 2017

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Europe PubMed Central

1 August 2017

1 reference

Europe PubMed Central

1 August 2017

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