(Q51852497)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20412111%20AND%20SRC:MED&resulttype=core&format=json

31 January 2020

title

Novel missense mutations in the ubiquitination-related gene UBE2A cause a recognizable X-linked mental retardation syndrome (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20412111%20AND%20SRC:MED&resulttype=core&format=json

31 January 2020

main subject

protein ubiquitination

1 reference

1

1 reference

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31 January 2020

Magdalena Badura-Stronka

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20412111%20AND%20SRC:MED&resulttype=core&format=json

31 January 2020

6

A Latos-Bielenska

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20412111%20AND%20SRC:MED&resulttype=core&format=json

31 January 2020

3

A Materna-Kiryluk

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20412111%20AND%20SRC:MED&resulttype=core&format=json

31 January 2020

author name string

A Tzschach

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20412111%20AND%20SRC:MED&resulttype=core&format=json

31 January 2020

M Raynaud

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20412111%20AND%20SRC:MED&resulttype=core&format=json

31 January 2020

H H Ropers

7

1 reference

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31 January 2020

publication date

19 April 2010

1 reference

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31 January 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20412111%20AND%20SRC:MED&resulttype=core&format=json

31 January 2020

volume

77

1 reference

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31 January 2020

issue

6

1 reference

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31 January 2020

page(s)

541-551

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20412111%20AND%20SRC:MED&resulttype=core&format=json

UBE2A, which encodes a ubiquitin-conjugating enzyme, is mutated in a novel X-linked mental retardation syndrome

31 January 2020

cites work

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2010.01429.X

Genetics of intellectual disability

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2010.01429.X

21 January 2018

XLMR genes: update 2007.

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2010.01429.X

Mutations in CUL4B, which encodes a ubiquitin E3 ligase subunit, cause an X-linked mental retardation syndrome associated with aggressive outbursts, seizures, relative macrocephaly, central obesity, hypogonadism, pes cavus, and tremor

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2010.01429.X

Mutation in CUL4B, which encodes a member of cullin-RING ubiquitin ligase complex, causes X-linked mental retardation

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2010.01429.X

A novel X-linked recessive mental retardation syndrome comprising macrocephaly and ciliary dysfunction is allelic to oral-facial-digital type I syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2010.01429.X

An assay for X inactivation based on differential methylation at the fragile X locus, FMR1.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2010.01429.X

Ubiquitin conjugating enzymes participate in polyglutamine protein aggregation

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2010.01429.X

Structural and functional conservation of two human homologs of the yeast DNA repair gene RAD6

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2010.01429.X

Expression of the ubiquitin-conjugating DNA repair enzymes HHR6A and B suggests a role in spermatogenesis and chromatin modification.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2010.01429.X

Inactivation of the HR6B ubiquitin-conjugating DNA repair enzyme in mice causes male sterility associated with chromatin modification.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2010.01429.X

The ubiquitin-conjugating DNA repair enzyme HR6A is a maternal factor essential for early embryonic development in mice

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2010.01429.X

Loss of HR6B ubiquitin-conjugating activity results in damaged synaptonemal complex structure and increased crossing-over frequency during the male meiotic prophase

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2010.01429.X

10.1111/J.1399-0004.2010.01429.X

21 January 2018

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20412111%20AND%20SRC:MED&resulttype=core&format=json

31 January 2020

1 reference