(Q36553475)

14 August 2017

Continued lessons from the INS gene: an intronic mutation causing diabetes through a novel mechanism (English)

1 reference

14 August 2017

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26101329%20AND%20SRC:MED&resulttype=core&format=json

13 June 2020

6

Heather M Highland

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26101329%20AND%20SRC:MED&resulttype=core&format=json

13 June 2020

9

Graeme I Bell

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26101329%20AND%20SRC:MED&resulttype=core&format=json

13 June 2020

author name string

Soo-Young Park

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26101329%20AND%20SRC:MED&resulttype=core&format=json

13 June 2020

Honggang Ye

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26101329%20AND%20SRC:MED&resulttype=core&format=json

13 June 2020

Marie E Perrone

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26101329%20AND%20SRC:MED&resulttype=core&format=json

13 June 2020

G Alkorta-Aranburu

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26101329%20AND%20SRC:MED&resulttype=core&format=json

13 June 2020

Craig L Hanis

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26101329%20AND%20SRC:MED&resulttype=core&format=json

13 June 2020

Louis H Philipson

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26101329%20AND%20SRC:MED&resulttype=core&format=json

13 June 2020

Siri Atma W Greeley

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26101329%20AND%20SRC:MED&resulttype=core&format=json

13 June 2020

language of work or name

English

0 references

publication date

22 June 2015

1 reference

Journal of Medical Genetics

14 August 2017

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26101329%20AND%20SRC:MED&resulttype=core&format=json

13 June 2020

volume

52

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26101329%20AND%20SRC:MED&resulttype=core&format=json

13 June 2020

page(s)

612-616

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26101329%20AND%20SRC:MED&resulttype=core&format=json

13 June 2020

issue

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26101329%20AND%20SRC:MED&resulttype=core&format=json

Phenotypic heterogeneity in monogenic diabetes: the clinical and diagnostic utility of a gene panel-based next-generation sequencing approach

13 June 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4744477

Generation of functional human pancreatic β cells in vitro

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4744477

Sulfonylurea treatment before genetic testing in neonatal diabetes: pros and cons

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4744477

Next-generation sequencing reveals deep intronic cryptic ABCC8 and HADH splicing founder mutations causing hyperinsulinism by pseudoexon activation

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4744477

Degradation of mRNAs that lack a stop codon: a decade of nonstop progress

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4744477

An integrative variant analysis suite for whole exome next-generation sequencing data

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4744477

Permanent neonatal diabetes caused by creation of an ectopic splice site within the INS gene

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4744477

Neonatal diabetes: an expanding list of genes allows for improved diagnosis and treatment

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4744477

Creation of the Web-based University of Chicago Monogenic Diabetes Registry: using technology to facilitate longitudinal study of rare subtypes of diabetes

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4744477

Clinical and molecular genetics of neonatal diabetes due to mutations in the insulin gene

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4744477

Permanent neonatal diabetes due to activating mutations in ABCC8 and KCNJ11.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4744477

Recessive mutations in the INS gene result in neonatal diabetes through reduced insulin biosynthesis

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4744477

Mutant proinsulin proteins associated with neonatal diabetes are retained in the endoplasmic reticulum and not efficiently secreted

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4744477

Fast and accurate short read alignment with Burrows-Wheeler transform

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4744477

Seven mutations in the human insulin gene linked to permanent neonatal/infancy-onset diabetes mellitus

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4744477

Insulin gene mutations as a cause of permanent neonatal diabetes

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4744477

Pramlintide for the treatment of insulin-requiring diabetes mellitus: rationale and review of clinical data

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4744477

Diabetes caused by insulin gene (INS) deletion: clinical characteristics of homozygous and heterozygous individuals.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4744477

Isolation and immortalization of lymphocytes.

21 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4744477

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

21 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4744477

10.1136/JMEDGENET-2015-103220

21 September 2018

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26101329%20AND%20SRC:MED&resulttype=core&format=json

13 June 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26101329%20AND%20SRC:MED&resulttype=core&format=json

13 June 2020

1 reference