(Q34276103)

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1 February 2020

title

Dominant missense mutations in ABCC9 cause Cantú syndrome (English)

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1 February 2020

7

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1 February 2020

Edwin P. Kirk

9

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1 February 2020

Hanka Venselaar

15

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1 February 2020

Marcel van der Heyden

19

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1 February 2020

Folkert Asselbergs

20

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1 February 2020

Isaac J Nijman

27

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1 February 2020

Gijs van Haaften

30

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1 February 2020

author name string

Magdalena Harakalova

1

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1 February 2020

Jeske J T van Harssel

2

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1 February 2020

Paulien A Terhal

3

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1 February 2020

Stef van Lieshout

4

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1 February 2020

Karen Duran

5

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1 February 2020

Ivo Renkens

6

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1 February 2020

Louise C Wilson

8

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1 February 2020

Claire L S Turner

10

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1 February 2020

Debbie Shears

11

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1 February 2020

Sixto Garcia-Minaur

12

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1 February 2020

Melissa M Lees

13

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1 February 2020

Alison Ross

14

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1 February 2020

Gert Vriend

16

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Hiroki Takanari

17

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1 February 2020

Martin B Rook

18

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1 February 2020

Hans M Breur

21

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1 February 2020

Marielle E Swinkels

22

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1 February 2020

Ingrid J Scurr

23

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1 February 2020

Sarah F Smithson

24

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1 February 2020

Nine V Knoers

25

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1 February 2020

Jasper J van der Smagt

26

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1 February 2020

Wigard P Kloosterman

28

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1 February 2020

Mieke M van Haelst

29

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Edwin Cuppen

31

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1 February 2020

language of work or name

English

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publication date

18 May 2012

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1 February 2020

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1 February 2020

volume

44

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1 February 2020

page(s)

793-796

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1 February 2020

issue

7

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https://scigraph.springernature.com/pub.10.1038/ng.2324

1 February 2020

exact match

0 references

cites work

Short-term follow-up of a Brazilian patient with Cantú syndrome

1 reference

12 December 2020

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

1 reference

12 December 2020

Function and distribution of the SUR isoforms and splice variants

1 reference

12 December 2020

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

1 reference

12 December 2020

SUR, ABC proteins targeted by KATP channel openers.

1 reference

12 December 2020

Muscle KATP channels: recent insights to energy sensing and myoprotection

1 reference

12 December 2020

KATP channel mutation confers risk for vein of Marshall adrenergic atrial fibrillation

1 reference

12 December 2020

Two modes of polyamine block regulating the cardiac inward rectifier K+ current IK1 as revealed by a study of the Kir2.1 channel expressed in a human cell line

1 reference

12 December 2020

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

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

Effective treatment with oral sulfonylureas in patients with diabetes due to sulfonylurea receptor 1 (SUR1) mutations.

1 reference

12 December 2020

Congenital hypertrichosis, cardiomegaly, and osteochondrodysplasia (Cantú syndrome): a new case with unusual radiological findings

1 reference

12 December 2020

KATP channels as molecular sensors of cellular metabolism

1 reference

12 December 2020

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

1 reference

12 December 2020

Sur domains that associate with and gate KATP pores define a novel gatekeeper

1 reference

12 December 2020

Multiplexed array-based and in-solution genomic enrichment for flexible and cost-effective targeted next-generation sequencing

1 reference

12 December 2020

Mutation discovery by targeted genomic enrichment of multiplexed barcoded samples

1 reference

12 December 2020

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

1 reference

12 December 2020

Potassium channel openers require ATP to bind to and act through sulfonylurea receptors

1 reference

12 December 2020

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

1 reference

12 December 2020

Congenital hypertrichosis, cardiomegaly and mild osteochondrodysplasia

1 reference

12 December 2020

Human hair follicles contain two forms of ATP-sensitive potassium channels, only one of which is sensitive to minoxidil

1 reference

12 December 2020

3-D structural and functional characterization of the purified KATP channel complex Kir6.2-SUR1.

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Accurate SNP and mutation detection by targeted custom microarray-based genomic enrichment of short-fragment sequencing libraries

1 reference

12 December 2020

Fast and accurate short read alignment with Burrows-Wheeler transform

1 reference

12 December 2020

Congenital hypertrichosis, osteochondrodysplasia, and cardiomegaly: Cantú syndrome

1 reference

12 December 2020