(Q33901163)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8376578%20AND%20SRC:MED&resulttype=core&format=json

30 October 2019

title

Deletion of the donor splice site of intron 4 in the glucokinase gene causes maturity-onset diabetes of the young (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8376578%20AND%20SRC:MED&resulttype=core&format=json

maturity-onset diabetes of the young

30 October 2019

main subject

1 reference

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8376578%20AND%20SRC:MED&resulttype=core&format=json

30 October 2019

author name string

Sun F

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8376578%20AND%20SRC:MED&resulttype=core&format=json

30 October 2019

Knebelmann B

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8376578%20AND%20SRC:MED&resulttype=core&format=json

30 October 2019

Pueyo ME

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8376578%20AND%20SRC:MED&resulttype=core&format=json

30 October 2019

Zouali H

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8376578%20AND%20SRC:MED&resulttype=core&format=json

30 October 2019

Lesage S

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8376578%20AND%20SRC:MED&resulttype=core&format=json

30 October 2019

Vaxillaire M

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8376578%20AND%20SRC:MED&resulttype=core&format=json

30 October 2019

Passa P

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8376578%20AND%20SRC:MED&resulttype=core&format=json

30 October 2019

Cohen D

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8376578%20AND%20SRC:MED&resulttype=core&format=json

30 October 2019

Velho G

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8376578%20AND%20SRC:MED&resulttype=core&format=json

30 October 2019

language of work or name

English

0 references

publication date

1 September 1993

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8376578%20AND%20SRC:MED&resulttype=core&format=json

Journal of Clinical Investigation

30 October 2019

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8376578%20AND%20SRC:MED&resulttype=core&format=json

30 October 2019

volume

92

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8376578%20AND%20SRC:MED&resulttype=core&format=json

30 October 2019

issue

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8376578%20AND%20SRC:MED&resulttype=core&format=json

30 October 2019

page(s)

1174-1180

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8376578%20AND%20SRC:MED&resulttype=core&format=json

Glucokinase mutations associated with non-insulin-dependent (type 2) diabetes mellitus have decreased enzymatic activity: implications for structure/function relationships

30 October 2019

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=288255

Familial hyperglycemia due to mutations in glucokinase. Definition of a subtype of diabetes mellitus

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=288255

New perspectives on pancreatic islet glucokinase

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=288255

RNA splice junctions of different classes of eukaryotes: sequence statistics and functional implications in gene expression

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=288255

Rapid and sensitive detection of point mutations and DNA polymorphisms using the polymerase chain reaction

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=288255

5 July 2018

Diabetes, race and genes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=288255

Illegitimate transcription: transcription of any gene in any cell type

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=288255

Scope and heterogeneous nature of MODY.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=288255

Effect of 5' splice site mutations on splicing of the preceding intron

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=288255

Mapping genes in diabetes. Genetic epidemiological perspective

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=288255

Glucokinase as glucose sensor and metabolic signal generator in pancreatic beta-cells and hepatocytes

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=288255

Glucokinase gene structure. Functional implications of molecular genetic studies

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=288255

Exon definition may facilitate splice site selection in RNAs with multiple exons

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=288255

Anti-Müllerian hormone Bruxelles: a nonsense mutation associated with the persistent Müllerian duct syndrome

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=288255

Illegitimate transcription. Application to the analysis of truncated transcripts of the dystrophin gene in nonmuscle cultured cells from Duchenne and Becker patients

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=288255

Nonsense mutation in the glucokinase gene causes early-onset non-insulin-dependent diabetes mellitus

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=288255

Point mutations in the dystrophin gene

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=288255

Human glucokinase gene: isolation, characterization, and identification of two missense mutations linked to early-onset non-insulin-dependent (type 2) diabetes mellitus

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=288255

Substitution of arginine for glycine 325 in the collagen alpha 5 (IV) chain associated with X-linked Alport syndrome: characterization of the mutation by direct sequencing of PCR-amplified lymphoblast cDNA fragments

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=288255

Mutations away from splice site recognition sequences might cis-modulate alternative splicing of goat alpha s1-casein transcripts. Structural organization of the relevant gene

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=288255

Primary pancreatic beta-cell secretory defect caused by mutations in glucokinase gene in kindreds of maturity onset diabetes of the young.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=288255

Linkage of type 2 diabetes to the glucokinase gene

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=288255

A general method for isolation of high molecular weight DNA from eukaryotes

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=288255

Isolation of biologically active ribonucleic acid from sources enriched in ribonuclease

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=288255

DNA sequencing with chain-terminating inhibitors

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=288255

Close linkage of glucokinase locus on chromosome 7p to early-onset non-insulin-dependent diabetes mellitus

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=288255

Invariant exon skipping in the human α-galactosidase A pre-mRNA: A g+1 to t substitution in a 5′-splice site causing Fabry disease

29 October 2018

1 reference

12 December 2020

Nonsense mutation of glucokinase gene in late-onset non-insulin-dependent diabetes mellitus

1 reference

12 December 2020

Missense glucokinase mutation in maturity-onset diabetes of the young and mutation screening in late-onset diabetes

1 reference

12 December 2020

Relationship between first-phase insulin secretion and age, HLA, islet cell antibody status, and development of type I diabetes in 220 juvenile first-degree relatives of diabetic patients

1 reference

12 December 2020

Strategies for the collection of sibling-pair data for genetic studies in type 2 (non-insulin-dependent) diabetes mellitus

1 reference

12 December 2020

Identifiers

DOI

10.1172/JCI116687

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8376578%20AND%20SRC:MED&resulttype=core&format=json

30 October 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8376578%20AND%20SRC:MED&resulttype=core&format=json

30 October 2019

PubMed publication ID

8376578

1 reference