MYLK pathogenic variants aortic disease presentation, pregnancy risk, and characterization of pathogenic missense variants (Q89171004)

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1 April 2020

title

MYLK pathogenic variants aortic disease presentation, pregnancy risk, and characterization of pathogenic missense variants (English)

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1 April 2020

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11

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1 April 2020

Kwanghyuk Lee

12

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1 April 2020

13

Suzanne M Leal

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1 April 2020

author name string

Stephanie E Wallace

1

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1 April 2020

Ellen S Regalado

2

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1 April 2020

Limin Gong

3

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1 April 2020

Alexandra L Janda

4

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1 April 2020

Dong-Chuan Guo

5

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1 April 2020

Claudio F Russo

6

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1 April 2020

Richard J Kulmacz

7

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1 April 2020

Nadine Hanna

8

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1 April 2020

Guillaume Jondeau

9

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1 April 2020

Catherine Boileau

10

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1 April 2020

Matias Hannuksela

14

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1 April 2020

Bo Carlberg

15

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1 April 2020

Tami Johnston

16

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1 April 2020

Christian Antolik

17

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1 April 2020

Ellen M Hostetler

18

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1 April 2020

Roberto Colombo

19

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1 April 2020

Dianna M Milewicz

20

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publication date

20 June 2018

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1 April 2020

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1 April 2020

volume

21

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1 April 2020

issue

1

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1 April 2020

page(s)

144-151

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Mutations in smooth muscle alpha-actin (ACTA2) lead to thoracic aortic aneurysms and dissections.

1 April 2020

cites work

1 reference

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7 January 2021

Risk of dissection in thoracic aneurysms associated with mutations of smooth muscle alpha-actin 2 (ACTA2)

1 reference

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7 January 2021

Recurrent gain-of-function mutation in PRKG1 causes thoracic aortic aneurysms and acute aortic dissections

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https://api.crossref.org/works/10.1038%2FS41436-018-0038-0

7 January 2021

Mutations in myosin light chain kinase cause familial aortic dissections

1 reference

https://api.crossref.org/works/10.1038%2FS41436-018-0038-0

7 January 2021

MYH11 mutations result in a distinct vascular pathology driven by insulin-like growth factor 1 and angiotensin II

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https://api.crossref.org/works/10.1038%2FS41436-018-0038-0

7 January 2021

Signaling through myosin light chain kinase in smooth muscles.

1 reference

https://api.crossref.org/works/10.1038%2FS41436-018-0038-0

7 January 2021

Two novel MYLK nonsense mutations causing thoracic aortic aneurysms/dissections in patients without apparent family history.

1 reference

https://api.crossref.org/works/10.1038%2FS41436-018-0038-0

7 January 2021

A novel variant in MYLK causes thoracic aortic dissections: genotypic and phenotypic description.

1 reference

https://api.crossref.org/works/10.1038%2FS41436-018-0038-0

7 January 2021

Routine Genetic Testing for Thoracic Aortic Aneurysm and Dissection in a Clinical Setting.

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7 January 2021

Online system for faster multipoint linkage analysis via parallel execution on thousands of personal computers

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7 January 2021

How does the ascending aorta geometry change when it dissects?

1 reference

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7 January 2021

COL3A1 haploinsufficiency results in a variety of Ehlers-Danlos syndrome type IV with delayed onset of complications and longer life expectancy

1 reference

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7 January 2021

International Registry of Patients Carrying TGFBR1 or TGFBR2 Mutations: Results of the MAC (Montalcino Aortic Consortium).

1 reference

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7 January 2021

Myosin light chain kinase ( MYLK) coding polymorphisms modulate human lung endothelial cell barrier responses via altered tyrosine phosphorylation, spatial localization, and lamellipodial protrusions.

1 reference

https://api.crossref.org/works/10.1038%2FS41436-018-0038-0

7 January 2021

Abl tyrosine kinase phosphorylates nonmuscle Myosin light chain kinase to regulate endothelial barrier function

1 reference

https://api.crossref.org/works/10.1038%2FS41436-018-0038-0

7 January 2021

Aneurysm syndromes caused by mutations in the TGF-beta receptor

1 reference

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7 January 2021

Increasing incidence of breast cancer in family with BRCA1 mutation

1 reference

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7 January 2021

Acute type B aortic dissection: insights from the International Registry of Acute Aortic Dissection

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/29925964

12 December 2020

inferred from PubMed ID database lookup

Identifiers

DOI

10.1038/S41436-018-0038-0

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29925964%20AND%20SRC:MED&resulttype=core&format=json

1 April 2020

1 reference

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1 April 2020

PubMed publication ID

29925964

1 reference