(Q52085176)

21 April 2018

title

KCNJ11 activating mutations in Italian patients with permanent neonatal diabetes. (English)

1 reference

21 April 2018

0 references

0 references

Ottavia Porzio

11

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Fabrizio Barbetti

object named as

Fabrizio Barbetti

17

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Anna Gloyn

object named as

Anna L Gloyn

4

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Andrew Tym Hattersley

5

object named as

Andrew T Hattersley

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21 April 2018

Ornella Massa

1

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21 April 2018

Dario Iafusco

2

1 reference

21 April 2018

Elena D'Amato

3

1 reference

21 April 2018

Bruno Pasquino

6

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21 April 2018

Giorgio Tonini

7

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21 April 2018

Francesco Dammacco

8

1 reference

21 April 2018

Giorgio Zanette

9

1 reference

21 April 2018

Franco Meschi

10

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21 April 2018

Gianfranco Bottazzo

12

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21 April 2018

Antonino Crinó

13

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21 April 2018

Renata Lorini

14

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21 April 2018

Franco Cerutti

15

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21 April 2018

Maurizio Vanelli

16

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21 April 2018

Early Onset Diabetes Study Group of the Italian Society of Pediatric Endocrinology and Diabetology

18

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21 April 2018

publication date

1 January 2005

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21 April 2018

published in

Human Mutation

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21 April 2018

volume

25

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21 April 2018

page(s)

22-27

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21 April 2018

issue

1

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21 April 2018

Of mice and men: K(ATP) channels and insulin secretion

cites work

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20124

The immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome (IPEX) is caused by mutations of FOXP3

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20124

EIF2AK3, encoding translation initiation factor 2-alpha kinase 3, is mutated in patients with Wolcott-Rallison syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20124

Activating mutations in the gene encoding the ATP-sensitive potassium-channel subunit Kir6.2 and permanent neonatal diabetes

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20124

Transgenic knockouts reveal a critical requirement for pancreatic beta cell glucokinase in maintaining glucose homeostasis

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20124

Molecular mechanism for ATP-dependent closure of the K+ channel Kir6.2

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20124

Targeted Overactivity of β Cell KATP Channels Induces Profound Neonatal Diabetes

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20124

Crystal structure of the potassium channel KirBac1.1 in the closed state

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20124

Structure and dynamics of the pore of inwardly rectifying K(ATP) channels.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20124

Neonatal diabetes mellitus due to complete glucokinase deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20124

Involvement of the N-terminus of Kir6.2 in the inhibition of the KATP channel by ATP.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20124

Agenesis of human pancreas due to decreased half-life of insulin promoter factor 1.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20124

Neonatal diabetes: new insights into aetiology and implications

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20124

Pancreatic agenesis attributable to a single nucleotide deletion in the human IPF1 gene coding sequence

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20124

Long-term course of neonatal diabetes.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20124

X-linked neonatal diabetes mellitus, enteropathy and endocrinopathy syndrome is the human equivalent of mouse scurfy

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20124

Direct Photoaffinity Labeling of the Kir6.2 Subunit of the ATP-sensitive K+Channel by 8-Azido-ATP

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20124

Loss of kinase activity in a patient with Wolcott-Rallison syndrome caused by a novel mutation in the EIF2AK3 gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20124

7 January 2021

Association and stoichiometry of K(ATP) channel subunits

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20124

7 January 2021

Permanent diabetes mellitus in the first year of life

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20124

7 January 2021

Permanent neonatal diabetes caused by glucokinase deficiency: inborn error of the glucose-insulin signaling pathway

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20124

7 January 2021

Transient neonatal diabetes: widening the understanding of the etiopathogenesis of diabetes

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20124

7 January 2021

Clinical and molecular characterization of a dominant form of congenital hyperinsulinism caused by a mutation in the high-affinity sulfonylurea receptor

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20124

7 January 2021

Identifiers

DOI

10.1002/HUMU.20124

1 reference

21 April 2018

PubMed ID

15580558

1 reference

21 April 2018