Two missense mutations in KCNQ1 cause pituitary hormone deficiency and maternally inherited gingival fibromatosis. (Q47146443)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29097701%20AND%20SRC:MED&resulttype=core&format=json

8 April 2020

title

Two missense mutations in KCNQ1 cause pituitary hormone deficiency and maternally inherited gingival fibromatosis (English)

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8 April 2020

1

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8 April 2020

Thomas Jespersen

34

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8 April 2020

Taneli Raivio

35

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8 April 2020

Lasse Skibsbye

3

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8 April 2020

Xiaonan Liu

5

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8 April 2020

Emily J Lodge

6

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8 April 2020

Jorgen K. Kanters

10

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8 April 2020

Kristiina Pulli

15

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8 April 2020

Filippo Casoni

21

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8 April 2020

Paolo Giacobini

22

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Marita Lipsanen-Nyman

28

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8 April 2020

Cynthia L Andoniadou

31

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Markku Varjosalo

33

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27

Riitta Veijola

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8 April 2020

author name string

Johanna Känsäkoski

2

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8 April 2020

Kirsi Vaaralahti

4

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8 April 2020

Chuyi Tang

7

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8 April 2020

Lei Yuan

8

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Rainer Fagerholm

9

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Päivi Lahermo

11

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Riikka Keski-Filppula

13

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Sanna Vuoristo

14

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Tapani Ebeling

16

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Leena Valanne

17

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8 April 2020

Eeva-Marja Sankila

18

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Sirpa Kivirikko

19

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8 April 2020

Mitja Lääperi

20

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Franziska Phan-Hug

23

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8 April 2020

Tal Buki

24

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8 April 2020

Manuel Tena-Sempere

25

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Kari Kaunisto

29

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8 April 2020

Patrice Mollard

30

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8 April 2020

Joel A Hirsch

32

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8 April 2020

Mari Kaunisto

12

1 reference

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8 April 2020

Nelly Pitteloud

26

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language of work or name

English

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publication date

3 November 2017

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8 April 2020

published in

Nature Communications

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8 April 2020

volume

8

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8 April 2020

page(s)

1289

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8 April 2020

issue

1

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Creative Commons Attribution 4.0 International

8 April 2020

copyright license

start time

3 November 2017

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April 2022 Public Data File from Crossref

copyright status

copyrighted

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describes a project that uses

Cytoscape

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9 June 2022

https://europepmc.org/search?query=(METHODS:'Cytoscape')

inferred from PubMed Central ID database lookup

exact match

https://scigraph.springernature.com/pub.10.1038/s41467-017-01429-z

0 references

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Structural basis of a Kv7.1 potassium channel gating module: studies of the intracellular c-terminal domain in complex with calmodulin

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23 May 2018

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Insights into the molecular mechanism for type 2 diabetes susceptibility at the KCNQ1 locus from temporal changes in imprinting status in human islets.

23 May 2018

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Determinants of incomplete penetrance and variable expressivity in heritable cardiac arrhythmia syndromes

23 May 2018

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Reduced insulin exocytosis in human pancreatic β-cells with gene variants linked to type 2 diabetes

23 May 2018

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Cyclosporin a, but not FK506, induces osmotic lysis of pancreas zymogen granules, intra-acinar enzyme release, and lysosome instability by activating K+ channel

23 May 2018

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23 May 2018

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Ion channels and signaling in the pituitary gland

23 May 2018

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Cellular in vivo imaging reveals coordinated regulation of pituitary microcirculation and GH cell network function

23 May 2018

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23 May 2018

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The genetic basis of long QT and short QT syndromes: a mutation update

23 May 2018

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Kcne2 deletion uncovers its crucial role in thyroid hormone biosynthesis

23 May 2018

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23 May 2018

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Semaphorin 4D regulates gonadotropin hormone-releasing hormone-1 neuronal migration through PlexinB1-Met complex

23 May 2018

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Modulation of potassium channel function confers a hyperproliferative invasive phenotype on embryonic stem cells

23 May 2018

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Maternally inherited Birk Barel mental retardation dysmorphism syndrome caused by a mutation in the genomically imprinted potassium channel KCNK9

23 May 2018

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The KCNQ1 (Kv7.1) COOH terminus, a multitiered scaffold for subunit assembly and protein interaction

23 May 2018

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23 May 2018

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Gingival fibromatosis and growth hormone deficiency syndrome--report of a rare case and review of literature.

23 May 2018

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23 May 2018

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KCNQ1 gain-of-function mutation in familial atrial fibrillation

23 May 2018

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Hereditary gingival fibromatosis and growth retardation

23 May 2018

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M-type KCNQ2-KCNQ3 potassium channels are modulated by the KCNE2 subunit

23 May 2018

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A novel mutation in the potassium channel gene KVLQT1 causes the Jervell and Lange-Nielsen cardioauditory syndrome

23 May 2018

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K(V)LQT1 and lsK (minK) proteins associate to form the I(Ks) cardiac potassium current

23 May 2018

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Calcium currents in a pituitary cell line (AtT-20): differential roles in stimulus-secretion coupling

23 May 2018

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Positional cloning of a novel potassium channel gene: KVLQT1 mutations cause cardiac arrhythmias

23 May 2018

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Easy calculations of lod scores and genetic risks on small computers

23 May 2018

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Cryo-EM Structure of a KCNQ1/CaM Complex Reveals Insights into Congenital Long QT Syndrome.

23 May 2018

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Kcne2 deletion impairs insulin secretion and causes type 2 diabetes mellitus.

15 August 2018

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High prevalence of long QT syndrome-associated SCN5A variants in patients with early-onset lone atrial fibrillation

15 August 2018

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Identification of estradiol/ERα-regulated genes in the mouse pituitary

15 August 2018

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Expanding the spectrum of mutations in GH1 and GHRHR: genetic screening in a large cohort of patients with congenital isolated growth hormone deficiency.

15 August 2018

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Female predominance and transmission distortion in the long-QT syndrome.

15 August 2018

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KCNQ1 assembly and function is blocked by long-QT syndrome mutations that disrupt interaction with calmodulin.

15 August 2018

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Calmodulin is essential for cardiac IKS channel gating and assembly: impaired function in long-QT mutations.

15 August 2018

1 reference

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Mutation in the KCNQ1 gene leading to the short QT-interval syndrome.

15 August 2018

1 reference

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2015 ESC Guidelines for the management of patients with ventricular arrhythmias and the prevention of sudden cardiac death

15 August 2018

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Andersen-Tawil syndrome: new potassium channel mutations and possible phenotypic variation.

15 August 2018

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Fitting Linear Mixed-Effects Models Using lme4

21 January 2018

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Normal values of the electrocardiogram for ages 16–90years

21 January 2018

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Human GHRH reduces voltage-gated K+ currents via a non-cAMP-dependent but PKC-mediated pathway in human GH adenoma cells

21 January 2018

1 reference

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Hereditary gingival fibromatosis associated with growth hormone deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FS41467-017-01429-Z

7 January 2021

New normal limits for the paediatric electrocardiogram

1 reference

https://api.crossref.org/works/10.1038%2FS41467-017-01429-Z

7 January 2021

Blocking K+ channels with TEA induces plasmalemma depolarization, increased [Ca2+]i, and ACTH secretion in AtT-20 cells

1 reference

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7 January 2021

Angiogenesis in Pituitary Adenomas and the Normal Pituitary Gland

1 reference

https://api.crossref.org/works/10.1038%2FS41467-017-01429-Z

7 January 2021

[Involvement of arterial vessels in the blood supply to adenomas of the human pituitary, functional implications]

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/29097701

12 December 2020

inferred from PubMed ID database lookup

Identifiers

DOI

10.1038/S41467-017-01429-Z

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29097701%20AND%20SRC:MED&resulttype=core&format=json

8 April 2020

0 references

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29097701%20AND%20SRC:MED&resulttype=core&format=json

8 April 2020

1 reference