Dominant missense mutations in ABCC9 cause Cantú syndrome. (Q34276103)

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1 February 2020

title

Dominant missense mutations in ABCC9 cause Cantú syndrome (English)

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Nine V Knoers

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language of work or name

English

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publication date

18 May 2012

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volume

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issue

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page(s)

793-796

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

1 February 2020

cites work

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12 December 2020

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

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12 December 2020

Function and distribution of the SUR isoforms and splice variants

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12 December 2020

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

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12 December 2020

SUR, ABC proteins targeted by KATP channel openers.

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12 December 2020

Muscle KATPChannels: Recent Insights to Energy Sensing and Myoprotection

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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

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12 December 2020

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

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12 December 2020

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

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12 December 2020

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

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12 December 2020

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

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12 December 2020

KATP channels as molecular sensors of cellular metabolism

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12 December 2020

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

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12 December 2020

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

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12 December 2020

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

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12 December 2020

Mutation discovery by targeted genomic enrichment of multiplexed barcoded samples

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12 December 2020

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

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12 December 2020

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

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12 December 2020

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

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12 December 2020

Congenital hypertrichosis, cardiomegaly and mild osteochondrodysplasia

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12 December 2020

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

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12 December 2020

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

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12 December 2020

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

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12 December 2020

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

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12 December 2020

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

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12 December 2020

Fast and accurate short read alignment with Burrows-Wheeler transform

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12 December 2020

Congenital hypertrichosis, osteochondrodysplasia, and cardiomegaly: Cantú syndrome

1 reference

12 December 2020