(Q29347536)

11 April 2017

Loss-of-Function Mutations in YY1AP1 Lead to Grange Syndrome and a Fibromuscular Dysplasia-Like Vascular Disease (English)

1 reference

11 April 2017

YY1 associated protein 1

1 reference

GOA release 2020-03-11

1 reference

1 reference

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27939641%20AND%20SRC:MED&resulttype=core&format=json

7 June 2020

Xuetong Shen

12

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27939641%20AND%20SRC:MED&resulttype=core&format=json

University of Washington Center for Mendelian Genomics

7 June 2020

14

object named as

University of Washington Center for Mendelian Genomics

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27939641%20AND%20SRC:MED&resulttype=core&format=json

7 June 2020

16

Deborah A Nickerson

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27939641%20AND%20SRC:MED&resulttype=core&format=json

7 June 2020

20

Dorothy K Grange

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27939641%20AND%20SRC:MED&resulttype=core&format=json

7 June 2020

9

Rolph Pfundt

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27939641%20AND%20SRC:MED&resulttype=core&format=json

7 June 2020

8

Bert B A de Vries

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27939641%20AND%20SRC:MED&resulttype=core&format=json

7 June 2020

author name string

Dong-Chuan Guo

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27939641%20AND%20SRC:MED&resulttype=core&format=json

7 June 2020

Xue-Yan Duan

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27939641%20AND%20SRC:MED&resulttype=core&format=json

7 June 2020

Ellen S Regalado

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27939641%20AND%20SRC:MED&resulttype=core&format=json

7 June 2020

Lauren Mellor-Crummey

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27939641%20AND%20SRC:MED&resulttype=core&format=json

7 June 2020

Callie S Kwartler

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27939641%20AND%20SRC:MED&resulttype=core&format=json

7 June 2020

Kenneth Lieberman

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27939641%20AND%20SRC:MED&resulttype=core&format=json

7 June 2020

Albert Schinzel

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27939641%20AND%20SRC:MED&resulttype=core&format=json

7 June 2020

Dieter Kotzot

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27939641%20AND%20SRC:MED&resulttype=core&format=json

7 June 2020

Min-Lee Yang

13

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27939641%20AND%20SRC:MED&resulttype=core&format=json

7 June 2020

Michael J Bamshad

15

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27939641%20AND%20SRC:MED&resulttype=core&format=json

7 June 2020

Heather L Gornik

17

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27939641%20AND%20SRC:MED&resulttype=core&format=json

7 June 2020

Santhi K Ganesh

18

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27939641%20AND%20SRC:MED&resulttype=core&format=json

7 June 2020

Alan C Braverman

19

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27939641%20AND%20SRC:MED&resulttype=core&format=json

7 June 2020

Dianna M Milewicz

21

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27939641%20AND%20SRC:MED&resulttype=core&format=json

7 June 2020

language of work or name

English

0 references

publication date

2 December 2016

1 reference

American Journal of Human Genetics

11 April 2017

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27939641%20AND%20SRC:MED&resulttype=core&format=json

7 June 2020

volume

100

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27939641%20AND%20SRC:MED&resulttype=core&format=json

7 June 2020

page(s)

21-30

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27939641%20AND%20SRC:MED&resulttype=core&format=json

7 June 2020

issue

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27939641%20AND%20SRC:MED&resulttype=core&format=json

Mutations in smooth muscle alpha-actin (ACTA2) cause coronary artery disease, stroke, and Moyamoya disease, along with thoracic aortic disease

7 June 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5223026

Negative Regulation of p21Waf1/Cip1 by Human INO80 Chromatin Remodeling Complex Is Implicated in Cell Cycle Phase G2/M Arrest and Abnormal Chromosome Stability

11 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5223026

Integrative genomics identifies YY1AP1 as an oncogenic driver in EpCAM(+) AFP(+) hepatocellular carcinoma

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5223026

Mechanisms of nuclear actin in chromatin-remodeling complexes.

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5223026

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

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5223026

Smooth muscle hyperplasia due to loss of smooth muscle α-actin is driven by activation of focal adhesion kinase, altered p53 localization and increased levels of platelet-derived growth factor receptor-β.

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5223026

TGFB2 mutations cause familial thoracic aortic aneurysms and dissections associated with mild systemic features of Marfan syndrome

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5223026

Thoracic aortic disease in tuberous sclerosis complex: molecular pathogenesis and potential therapies in Tsc2+/- mice

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5223026

The INO80 chromatin remodeling complex in transcription, replication and repair

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5223026

YY1 functions with INO80 to activate transcription

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5223026

Regulation of vascular smooth muscle cell differentiation

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5223026

Multiple repressor pathways contribute to phenotypic switching of vascular smooth muscle cells

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5223026

YY1AP, a novel co-activator of YY1.

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5223026

Isolation, immortalization, and characterization of a human breast epithelial cell line with stem cell properties

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5223026

p107 is a suppressor of retinoblastoma development in pRb-deficient mice

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5223026

Immortalization of distinct human mammary epithelial cell types by human papilloma virus 16 E6 or E7.

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5223026

A pathologic-arteriographic correlation of renal arterial disease

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5223026

Exome sequencing in seven families and gene-based association studies indicate genetic heterogeneity and suggest possible candidates for fibromuscular dysplasia.

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5223026

Whole exome sequencing implicates an INO80D mutation in a syndrome of aortic hypoplasia, premature atherosclerosis, and arterial stiffness.

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5223026

Association between 2 angiographic subtypes of renal artery fibromuscular dysplasia and clinical characteristics.

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5223026

Grange syndrome: an identifiable cause of stroke in young adults

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5223026

A de novo paradigm for mental retardation.

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5223026

De novo ACTA2 mutation causes a novel syndrome of multisystemic smooth muscle dysfunction

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5223026

NF1 regulates a Ras-dependent vascular smooth muscle proliferative injury response.

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5223026

A new case of Grange syndrome without cardiac findings

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5223026

Severe arterial occlusive disorder and brachysyndactyly in a boy: a further case of Grange syndrome?

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5223026

Familial syndrome of progressive arterial occlusive disease consistent with fibromuscular dysplasia, hypertension, congenital cardiac defects, bone fragility, brachysyndactyly, and learning disabilities.

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5223026

Fibromuscular dysplasia: state of the science and critical unanswered questions: a scientific statement from the American Heart Association

26 November 2018

1 reference

12 December 2020

Is fibromuscular dysplasia a single disease?

1 reference

12 December 2020

Possible familial origin of multifocal renal artery fibromuscular dysplasia

1 reference

12 December 2020

Arterial fibrodysplasia. Histopathologic character and current etiologic concepts

1 reference

12 December 2020

10.1016/J.AJHG.2016.11.008

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27939641%20AND%20SRC:MED&resulttype=core&format=json

7 June 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27939641%20AND%20SRC:MED&resulttype=core&format=json

7 June 2020

1 reference