(Q28116846)

4 January 2017

title

Mutations in DCHS1 cause mitral valve prolapse (English)

1 reference

Dachsous cadherin-related 1

4 January 2017

main subject

1 reference

cell migration involved in endocardial cushion formation

GOA release 2020-03-11

1 reference

Dachsous cadherin related 1

GOA release 2020-03-11

1 reference

GOA release 2020-03-11

mitral valve prolapse

1 reference

28

0 references

Jean-Jacques Schott

31

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Thierry Le Tourneau

0 references

Leticia Fernandez-Friera

23

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Daniel Trujillano

25

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Nabila Bouatia-Naji

17

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Patrick Bruneval

Xavier Estivill i Pallejà

29

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27

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Stephan Ossowski

26

0 references

Xavier Jeunemaitre

45

Xavier Jeunemaitre

1 reference

4 January 2017

Colby Chiang

15

0 references

Jorge Solís

Jorge Solis

24

0 references

Michel Pucéat

Michel Puceat

36

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Albert Hagege

Albert Hagege

46

0 references

Ann-Marie Broome

Ann-Marie Broome

41

0 references

Christophe Tribouilloy

20

Christophe Tribouilloy

1 reference

4 January 2017

37

Yoshikazu Tsukasaki

1 reference

4 January 2017

Ronen Durst

1

1 reference

4 January 2017

Kimberly Sauls

2

1 reference

4 January 2017

David S. Peal

3

1 reference

4 January 2017

Annemarieke deVlaming

4

1 reference

4 January 2017

Katelynn Toomer

5

1 reference

4 January 2017

Maire Leyne

6

1 reference

4 January 2017

Monica Salani

7

1 reference

4 January 2017

Michael E. Talkowski

8

1 reference

4 January 2017

Harrison Brand

9

1 reference

4 January 2017

Maëlle Perrocheau

10

1 reference

4 January 2017

Charles Simpson

11

1 reference

4 January 2017

Christopher Jett

12

1 reference

4 January 2017

Matthew R. Stone

13

1 reference

4 January 2017

Florie Charles

14

1 reference

4 January 2017

Stacey N. Lynch

16

1 reference

4 January 2017

Francesca N. Delling

18

1 reference

4 January 2017

Lisa A. Freed

19

1 reference

4 January 2017

Hervé LeMarec

22

1 reference

4 January 2017

Adrian Chester

30

1 reference

4 January 2017

Kenneth D. Irvine

32

1 reference

4 January 2017

Yaopan Mao

33

1 reference

4 January 2017

Andy Wessels

34

1 reference

4 January 2017

Tahirali Motiwala

35

1 reference

4 January 2017

Donald R. Menick

38

1 reference

4 January 2017

Harinath Kasiganesan

39

1 reference

4 January 2017

Xingju Nie

40

1 reference

4 January 2017

Katherine Williams

42

1 reference

4 January 2017

Amanda Johnson

43

1 reference

4 January 2017

Roger R. Markwald

44

1 reference

4 January 2017

Robert A. Levine

47

1 reference

4 January 2017

David J. Milan

48

1 reference

4 January 2017

Russell A. Norris

49

1 reference

4 January 2017

Susan A. Slaugenhaupt

50

1 reference

4 January 2017

language of work or name

English

0 references

publication date

3 September 2015

1 reference

4 January 2017

1 reference

4 January 2017

volume

525

1 reference

4 January 2017

issue

7567

1 reference

4 January 2017

page(s)

109–113

1 reference

describes a project that uses

4 January 2017

ImageJ

1 reference

Europe PubMed Central

11 June 2022

https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4720389/fullTextXML

inferred from PubMed Central ID database lookup

cites work

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1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4720389

Exome capture reveals ZNF423 and CEP164 mutations, linking renal ciliopathies to DNA damage response signaling

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4720389

Evolutionarily conserved elements in vertebrate, insect, worm, and yeast genomes

20 March 2017

1 reference

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20 March 2017

1 reference

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A method and server for predicting damaging missense mutations

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4720389

Characterization of a Dchs1 mutant mouse reveals requirements for Dchs1-Fat4 signaling during mammalian development

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4720389

Essential roles for the FE65 amyloid precursor protein-interacting proteins in brain development

20 March 2017

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Ataxia, dementia, and hypogonadotropism caused by disordered ubiquitination

20 March 2017

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MutationTaster evaluates disease-causing potential of sequence alterations

20 March 2017

1 reference

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Distribution and intensity of constraint in mammalian genomic sequence

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4720389

Detection of nonneutral substitution rates on mammalian phylogenies

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4720389

Giant cadherins Fat and Dachsous self-bend to organize properly spaced intercellular junctions.

24 May 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4720389

miR-21 represses Pdcd4 during cardiac valvulogenesis.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4720389

Developmental basis for filamin-A-associated myxomatous mitral valve disease

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4720389

KCTD13 is a major driver of mirrored neuroanatomical phenotypes of the 16p11.2 copy number variant

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4720389

Automated and adaptable quantification of cellular alignment from microscopic images for tissue engineering applications.

29 September 2017

1 reference

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Surgery for asymptomatic degenerative aortic and mitral valve disease

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4720389

VariantClassifier: A hierarchical variant classifier for annotated genomes

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4720389

Expression of the familial cardiac valvular dystrophy gene, filamin-A, during heart morphogenesis.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4720389

Identification of deleterious mutations within three human genomes

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4720389

Periostin regulates atrioventricular valve maturation.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4720389

New locus for autosomal dominant mitral valve prolapse on chromosome 13: clinical insights from genetic studies

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4720389

Action of fat, four-jointed, dachsous and dachs in distal-to-proximal wing signaling.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4720389

A Locus for Autosomal Dominant Mitral Valve Prolapse on Chromosome 11p15.4

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4720389

Natural history of asymptomatic mitral valve prolapse in the community

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4720389

Prevalence and clinical outcome of mitral-valve prolapse.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4720389

Reconsideration of echocardiographic standards for mitral valve prolapse: lack of association between leaflet displacement isolated to the apical four chamber view and independent echocardiographic evidence of abnormality

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4720389

Epicardially derived fibroblasts preferentially contribute to the parietal leaflets of the atrioventricular valves in the murine heart.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4720389

Three-dimensional echocardiographic reconstruction of the mitral valve, with implications for the diagnosis of mitral valve prolapse.

2 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4720389

Mitral valve prolapse in the general population: the benign nature of echocardiographic features in the Framingham Heart Study.

2 June 2018

1 reference

Crossref

https://api.crossref.org/works/10.1038%2FNATURE14670

Dachsous encodes a member of the cadherin superfamily that controls imaginal disc morphogenesis in Drosophila

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1038%2FNATURE14670

Identification and detection of the periostin gene in cardiac development.

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1038%2FNATURE14670

Spatial and temporal expression of the zebrafish genome by large-scale in situ hybridization screening.

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4720389

A family study of anterior mitral leaflet thickness and mitral valve prolapse

27 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4720389

Quantification of low-copy transcripts by continuous SYBR Green I monitoring during amplification

27 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4720389

Clinical and epidemiologic issues in mitral valve prolapse: overview and perspective

27 November 2018

1 reference

12 December 2020

Frequency and significance of M-mode echocardiographic evidence of mitral valve prolapse in clinically isolated pure mitral regurgitation: analysis of 65 patients having mitral valve replacement

1 reference

12 December 2020

Evidence for progression from mild to severe mitral regurgitation in mitral valve prolapse

1 reference

12 December 2020

Leaflet concavity: a rapid visual clue to the presence and mechanism of functional mitral regurgitation

1 reference

12 December 2020

Activated interstitial myofibroblasts express catabolic enzymes and mediate matrix remodeling in myxomatous heart valves

1 reference

12 December 2020

Identifiers

DOI

10.1038/NATURE14670

1 reference

Dimensions Publication ID

1053732697

0 references

1 reference

1 reference

1 reference