TRMT10A dysfunction is associated with abnormalities in glucose homeostasis, short stature and microcephaly (Q24301270)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25053765%20AND%20SRC:MED&resulttype=core&format=json

10 March 2020

title

TRMT10A dysfunction is associated with abnormalities in glucose homeostasis, short stature and microcephaly (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25053765%20AND%20SRC:MED&resulttype=core&format=json

10 March 2020

0 references

0 references

TRNA methyltransferase 10A

1 reference

GOA release 2020-03-11

tRNA methylation

1 reference

GOA release 2020-03-11

author

Jane E Jackman

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25053765%20AND%20SRC:MED&resulttype=core&format=json

10 March 2020

author name string

David Gillis

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25053765%20AND%20SRC:MED&resulttype=core&format=json

10 March 2020

Aiswarya Krishnamohan

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25053765%20AND%20SRC:MED&resulttype=core&format=json

10 March 2020

Barak Yaacov

3

1 reference

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10 March 2020

Avraham Shaag

4

1 reference

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10 March 2020

Orly Elpeleg

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25053765%20AND%20SRC:MED&resulttype=core&format=json

10 March 2020

language of work or name

English

0 references

publication date

22 July 2014

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25053765%20AND%20SRC:MED&resulttype=core&format=json

Journal of Medical Genetics

10 March 2020

published in

1 reference

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10 March 2020

volume

51

1 reference

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10 March 2020

issue

9

1 reference

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10 March 2020

page(s)

581-586

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25053765%20AND%20SRC:MED&resulttype=core&format=json

MODOMICS: a database of RNA modification pathways--2013 update

10 March 2020

cites work

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2014-102282

Transfer RNA modifications: nature's combinatorial chemistry playground.

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2014-102282

tRNA biology charges to the front

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2014-102282

Identification of the yeast gene encoding the tRNA m1G methyltransferase responsible for modification at position 9.

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2014-102282

New archaeal methyltransferases forming 1-methyladenosine or 1-methyladenosine and 1-methylguanosine at position 9 of tRNA.

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2014-102282

RNase P without RNA: identification and functional reconstitution of the human mitochondrial tRNA processing enzyme

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2014-102282

A subcomplex of human mitochondrial RNase P is a bifunctional methyltransferase--extensive moonlighting in mitochondrial tRNA biogenesis

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2014-102282

Unexpected expansion of tRNA substrate recognition by the yeast m1G9 methyltransferase Trm10.

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2014-102282

MutationTaster evaluates disease-causing potential of sequence alterations

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2014-102282

Crystal structure of tRNA m1G9 methyltransferase Trm10: insight into the catalytic mechanism and recognition of tRNA substrate

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2014-102282

tRNA methyltransferase homolog gene TRMT10A mutation in young onset diabetes and primary microcephaly in humans

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2014-102282

Heterogeneity of persistent hyperinsulinaemic hypoglycaemia. A series of 175 cases

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2014-102282

Dysregulation of insulin secretion in children with congenital hyperinsulinism due to sulfonylurea receptor mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2014-102282

Novel de novo mutation in sulfonylurea receptor 1 presenting as hyperinsulinism in infancy followed by overt diabetes in early adolescence

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2014-102282

Glucose metabolism in 105 children and adolescents after pancreatectomy for congenital hyperinsulinism

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2014-102282

Hyperinsulinism presenting in childhood and treatment by conservative pancreatectomy

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2014-102282

Hyperinsulinism in developmental syndromes

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2014-102282

Single-molecule FRET reveals a cooperative effect of two methyl group modifications in the folding of human mitochondrial tRNA(Lys).

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2014-102282

Evidence that tRNA modifying enzymes are important in vivo targets for 5-fluorouracil in yeast

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2014-102282

A high-throughput quantitative approach reveals more small RNA modifications in mouse liver and their correlation with diabetes

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2014-102282

Beta-cell proliferation and apoptosis in the developing normal human pancreas and in hyperinsulinism of infancy

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2014-102282

A Methyl Group Controls Conformational Equilibrium in Human Mitochondrial tRNALys

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2014-102282

Abnormal Neurodevelopmental Outcomes are Common in Children with Transient Congenital Hyperinsulinism

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2014-102282

inferred from DOI database lookup

7 January 2021

based on heuristic

Identifiers

DOI

10.1136/JMEDGENET-2014-102282

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25053765%20AND%20SRC:MED&resulttype=core&format=json

release_znz3qlzal5g2fcvsn7luekz2a4

10 March 2020

Fatcat ID

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/znz3qlzal5g2fcvsn7luekz2a4

mapped directly with Wikidata item

24 November 2022

based on heuristic

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25053765%20AND%20SRC:MED&resulttype=core&format=json