(Q36017136)

11 August 2017

Cantú syndrome is caused by mutations in ABCC9. (English)

1 reference

11 August 2017

1 reference

5

Hülya Kayserili

0 references

Martine Le Merrer

12

Martine Le Merrer

0 references

Stephen Robertson

Stephen P Robertson

18

0 references

Christian Gilissen

Christian Gilissen

2

0 references

Joris A Veltman

Joris A Veltman

17

0 references

Alexander Hoischen

21

Alexander Hoischen

1 reference

11 August 2017

19

Han G Brunner

1 reference

11 August 2017

4

Raoul C M Hennekam

1 reference

11 August 2017

3

Dorothy K Grange

1 reference

11 August 2017

6

Hartmut Engels

1 reference

11 August 2017

1

Bregje W M van Bon

1 reference

11 August 2017

16

Marloes Steehouwer

1 reference

11 August 2017

14

Nienke Wieskamp

1 reference

11 August 2017

Heiko Reutter

7

1 reference

11 August 2017

John R Ostergaard

8

1 reference

11 August 2017

Eva Morava

9

1 reference

11 August 2017

Konstantinos Tsiakas

10

1 reference

11 August 2017

Bertrand Isidor

11

1 reference

11 August 2017

Metin Eser

13

1 reference

11 August 2017

Petra de Vries

15

1 reference

11 August 2017

Bert B A de Vries

20

1 reference

11 August 2017

language of work or name

English

0 references

publication date

17 May 2012

1 reference

American Journal of Human Genetics

11 August 2017

1 reference

11 August 2017

90

1 reference

11 August 2017

6

1 reference

11 August 2017

1094-1101

1 reference

Copy number variations on chromosome 4q26-27 are associated with Cantu syndrome

11 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3370286

Calcium signaling dysfunction in heart disease

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3370286

Permanent neonatal diabetes due to activating mutations in ABCC8 and KCNJ11.

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3370286

Muscle KATP channels: recent insights to energy sensing and myoprotection

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3370286

Automated identification of conserved synteny after whole-genome duplication

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3370286

Increased ATPase activity produced by mutations at arginine-1380 in nucleotide-binding domain 2 of ABCC8 causes neonatal diabetes

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3370286

ABCC8 and ABCC9: ABC transporters that regulate K+ channels

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3370286

Activating mutations in the ABCC8 gene in neonatal diabetes mellitus

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3370286

KATP channels as molecular sensors of cellular metabolism

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3370286

ABCC9 mutations identified in human dilated cardiomyopathy disrupt catalytic KATP channel gating

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3370286

Minoxidil: mechanisms of action on hair growth

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3370286

Binding and effect of K ATP channel openers in the absence of Mg2+

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3370286

Dilated cardiomyopathy and heart failure caused by a mutation in phospholamban

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3370286

Further case of Cantú syndrome: exclusion of cryptic subtelomeric chromosome aberrations

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3370286

ABC transporters: physiology, structure and mechanism--an overview

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3370286

Autosomal dominant inheritance in Cantú syndrome (congenital hypertrichosis, osteochondrodysplasia, and cardiomegaly).

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3370286

Three patients with the osteochondrodysplasia and hypertrichosis syndrome--Cantu syndrome

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3370286

A distinct osteochondrodysplasia with hypertrichosis- Individualization of a probable autosomal recessive entity.

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3370286

De novo nonsense mutations in ASXL1 cause Bohring-Opitz syndrome

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3370286

A de novo paradigm for mental retardation.

23 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3370286

Cantu syndrome and lymphoedema.

23 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3370286

The ATPase activities of sulfonylurea receptor 2A and sulfonylurea receptor 2B are influenced by the C-terminal 42 amino acids

23 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3370286

De novo mutations of SETBP1 cause Schinzel-Giedion syndrome

23 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3370286

Anesthetic experience in a patient with Cantú syndrome.

23 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3370286

Glyburide blocks the relaxation response to BRL 34915 (cromakalim), minoxidil sulfate and diazoxide in vascular smooth muscle.

23 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3370286

Minoxidil stimulates elastin expression in aortic smooth muscle cells

23 September 2018

1 reference

12 December 2020

Congenital hypertrichosis, osteochondrodysplasia, and cardiomegaly: further delineation of a new genetic syndrome

1 reference

12 December 2020

Congenital hypertrichosis, osteochondrodysplasia, and cardiomegaly: Cantú syndrome

1 reference

12 December 2020

A patient with monosomy 1p36, atypical features and phenotypic similarities with Cantu syndrome

1 reference

12 December 2020

Cantu syndrome in a woman and her two daughters: Further confirmation of autosomal dominant inheritance and review of the cardiac manifestations

1 reference

12 December 2020

Cantú syndrome: Report of nine new cases and expansion of the clinical phenotype

1 reference

12 December 2020

Calcium and heart failure: the cycle game

1 reference

12 December 2020

Mechanism of action of minoxidil sulfate-induced vasodilation: a role for increased K+ permeability

1 reference

12 December 2020

10.1016/J.AJHG.2012.04.014

Identifiers

DOI

1 reference

11 August 2017

1 reference

11 August 2017

1 reference