Characterization of contiguous gene deletions in COL4A6 and COL4A5 in Alport syndrome-diffuse leiomyomatosis (Q47835204)

6 February 2018

http://europepmc.org/abstract/MED/28275241

title

Characterization of contiguous gene deletions in COL4A6 and COL4A5 in Alport syndrome-diffuse leiomyomatosis (English)

1 reference

6 February 2018

http://europepmc.org/abstract/MED/28275241

1 reference

2

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31 May 2020

Tomohiko Yamamura

12

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31 May 2020

Koichi Nakanishi

16

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31 May 2020

15

Ichiro Morioka

1 reference

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31 May 2020

author name string

Kandai Nozu

1

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31 May 2020

Shiro Yamada

3

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31 May 2020

Masafumi Oka

4

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31 May 2020

Motoko Yanagita

5

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31 May 2020

Naoya Morisada

6

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31 May 2020

Shuichiro Fujinaga

7

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31 May 2020

China Nagano

8

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31 May 2020

Yoshimitsu Gotoh

9

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31 May 2020

Eihiko Takahashi

10

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31 May 2020

Takahiro Morishita

11

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31 May 2020

Takeshi Ninchoji

13

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31 May 2020

Hiroshi Kaito

14

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31 May 2020

Igor Vorechovsky

17

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31 May 2020

Kazumoto Iijima

18

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31 May 2020

publication date

9 March 2017

1 reference

6 February 2018

http://europepmc.org/abstract/MED/28275241

published in

Journal of Human Genetics

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31 May 2020

volume

62

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31 May 2020

issue

7

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31 May 2020

page(s)

733-735

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Alport syndrome and leiomyomatosis: the first deletion extending beyond COL4A6 intron 2.

31 May 2020

cites work

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2017.28

Alport syndrome and diffuse leiomyomatosis with major morbid events presenting at adult age.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2017.28

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2017.28

Clonal overgrowth of esophageal smooth muscle cells in diffuse leiomyomatosis-Alport syndrome caused by partial deletion in COL4A5 and COL4A6 genes.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2017.28

LINE-1 elements at the sites of molecular rearrangements in Alport syndrome-diffuse leiomyomatosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2017.28

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2017.28

Detection by multiplex ligation-dependent probe amplification of large deletion mutations in the COL4A5 gene in female patients with Alport syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2017.28

MLPA and cDNA analysis improves COL4A5 mutation detection in X-linked Alport syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2017.28

Detection of large deletion mutations in the COL4A5 gene of female Alport syndrome patients.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2017.28

Mammalian non-LTR retrotransposons: for better or worse, in sickness and in health

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2017.28

VisualRepbase: an interface for the study of occurrences of transposable element families

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2017.28

Initial sequencing and analysis of the human genome

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2017.28

Deletion of the 5'exons of COL4A6 is not needed for the development of diffuse leiomyomatosis in patients with Alport syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2017.28

Systematic identification of gene annotation errors in the widely used yeast mutation collections.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2017.28

Deletion mapping in Alport syndrome and Alport syndrome-diffuse leiomyomatosis reveals potential mechanisms of visceral smooth muscle overgrowth

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2017.28

7 January 2021

inferred from DOI database lookup

Molecular analysis of patients with type III Bartter syndrome: picking up large heterozygous deletions with semiquantitative PCR

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2017.28

7 January 2021

inferred from DOI database lookup

Genomic deletions created upon LINE-1 retrotransposition

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2017.28

7 January 2021

inferred from DOI database lookup

Alport syndrome and thin glomerular basement membrane disease

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/28275241

12 December 2020

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

PubMed

https://pubmed.ncbi.nlm.nih.gov/28275241

12 December 2020

inferred from PubMed ID database lookup

Identifiers

DOI

10.1038/JHG.2017.28

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28275241%20AND%20SRC:MED&resulttype=core&format=json

Dimensions Publication ID

31 May 2020

1084128233

0 references

Fatcat ID

release_kkmrk25y3vgnjees23o6exgscq

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/kkmrk25y3vgnjees23o6exgscq

24 November 2022

mapped directly with Wikidata item

1 reference