Clinical and functional characterization of the Pro1198Leu ABCC8 gene mutation associated with permanent neonatal diabetes mellitus (Q33588879)

28 July 2017

title

Clinical and functional characterization of the Pro1198Leu ABCC8 gene mutation associated with permanent neonatal diabetes mellitus (English)

1 reference

permanent neonatal diabetes mellitus

28 July 2017

main subject

1 reference

Nobuya Inagaki

11

0 references

Hiroto Furuta

2

object named as

Hiroto Furuta

1 reference

28 July 2017

4

Kazuaki Nagashima

1 reference

28 July 2017

Tomoyuki Takagi

1

1 reference

28 July 2017

Masakazu Miyawaki

3

1 reference

28 July 2017

Takeshi Shimada

5

1 reference

28 July 2017

Asako Doi

6

1 reference

28 July 2017

Shohei Matsuno

7

1 reference

28 July 2017

Daisuke Tanaka

8

1 reference

28 July 2017

Masahiro Nishi

9

1 reference

28 July 2017

Hideyuki Sasaki

10

1 reference

28 July 2017

Norishige Yoshikawa

12

1 reference

28 July 2017

Kishio Nanjo

13

1 reference

28 July 2017

Takashi Akamizu

14

1 reference

28 July 2017

publication date

11 March 2013

1 reference

Journal of Diabetes Investigation

28 July 2017

published in

1 reference

28 July 2017

volume

4

1 reference

28 July 2017

issue

3

1 reference

28 July 2017

page(s)

269-273

1 reference

International clinical harmonization of glycated hemoglobin in Japan: From Japan Diabetes Society to National Glycohemoglobin Standardization Program values

28 July 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4015663

Genetics and pathophysiology of neonatal diabetes mellitus

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4015663

The cost-effectiveness of personalized genetic medicine: the case of genetic testing in neonatal diabetes

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4015663

Permanent neonatal diabetes caused by dominant, recessive, or compound heterozygous SUR1 mutations with opposite functional effects

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4015663

Activating mutations in the ABCC8 gene in neonatal diabetes mellitus

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4015663

Molecular structure of the glibenclamide binding site of the beta-cell K(ATP) channel

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4015663

PKA-mediated phosphorylation of the human K(ATP) channel: separate roles of Kir6.2 and SUR1 subunit phosphorylation.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4015663

Reconstitution of IKATP: an inward rectifier subunit plus the sulfonylurea receptor

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4015663

Molecular basis of neonatal diabetes in Japanese patients.

21 June 2018

1 reference

Insulin mutation screening in 1,044 patients with diabetes: mutations in the INS gene are a common cause of neonatal diabetes but a rare cause of diabetes diagnosed in childhood or adulthood

21 January 2018

1 reference

Switching from insulin to oral sulfonylureas in patients with diabetes due to Kir6.2 mutations.

21 January 2018

1 reference

Successful sulfonylurea treatment of a neonate with neonatal diabetes mellitus due to a novel missense mutation, p.P1199L, in the ABCC8 gene.

21 January 2018

1 reference

Identification of the high-affinity tolbutamide site on the SUR1 subunit of the K(ATP) channel.

21 January 2018

1 reference

Mutations in the ABCC8 gene encoding the SUR1 subunit of the KATP channel cause transient neonatal diabetes, permanent neonatal diabetes or permanent diabetes diagnosed outside the neonatal period

21 January 2018

1 reference

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

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/24843665

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Mutations in ATP-Sensitive K+ Channel Genes Cause Transient Neonatal Diabetes and Permanent Diabetes in Childhood or Adulthood

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/24843665

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1111/JDI.12049

1 reference

28 July 2017

1 reference

28 July 2017

1 reference