Mutations in MED12 cause X-linked Ohdo syndrome (Q36666925)

15 August 2017

Mutations in MED12 cause X-linked Ohdo syndrome (English)

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15 August 2017

Christian Gilissen

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Cornelis L Harteveld

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object named as

Cornelis L Harteveld

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15 August 2017

4

Alexander Hoischen

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15 August 2017

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Han G Brunner

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15 August 2017

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Helger G Yntema

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15 August 2017

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Tjitske Kleefstra

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15 August 2017

Michèl A A P Willemsen

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object named as

Michèl A A P Willemsen

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Anneke T Vulto-van Silfhout

15 August 2017

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object named as

Anneke T Vulto-van Silfhout

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15 August 2017

18

Arjan P M de Brouwer

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15 August 2017

3

Bregje W M van Bon

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15 August 2017

15

Hans van Bokhoven

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15 August 2017

11

Ben C J Hamel

1 reference

15 August 2017

2

Bert B A de Vries

1 reference

15 August 2017

Martina Ruiterkamp-Versteeg

5

1 reference

15 August 2017

Fangjian Gao

7

1 reference

15 August 2017

Marloes van Zwam

8

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15 August 2017

Anthonie J van Essen

10

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15 August 2017

Thomas G Boyer

17

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15 August 2017

language of work or name

English

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publication date

7 February 2013

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15 August 2017

6

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American Journal of Human Genetics

inferred from page(s)

published in

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15 August 2017

92

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15 August 2017

3

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15 August 2017

401-406

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MED12 mutations link intellectual disability syndromes with dysregulated GLI3-dependent Sonic Hedgehog signaling

15 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3591845

Exome sequencing identifies recurrent SPOP, FOXA1 and MED12 mutations in prostate cancer

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3591845

Whole-exome-sequencing identifies mutations in histone acetyltransferase gene KAT6B in individuals with the Say-Barber-Biesecker variant of Ohdo syndrome

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3591845

MED12, the mediator complex subunit 12 gene, is mutated at high frequency in uterine leiomyomas

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3591845

Origins and activity of the Mediator complex

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3591845

Function and regulation of the Mediator complex

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3591845

A novel mutation in MED12 causes FG syndrome (Opitz-Kaveggia syndrome).

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3591845

A method and server for predicting damaging missense mutations

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3591845

FG syndrome, an X-linked multiple congenital anomaly syndrome: the clinical phenotype and an algorithm for diagnostic testing

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3591845

Functional annotations improve the predictive score of human disease-related mutations in proteins

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3591845

Molecular architecture of quartet MOZ/MORF histone acetyltransferase complexes

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3591845

Mediator links epigenetic silencing of neuronal gene expression with x-linked mental retardation

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3591845

Incidence, aetiology and epidemiology of uterine fibroids

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3591845

MOZ and MORF, two large MYSTic HATs in normal and cancer stem cells

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3591845

A recurrent mutation in MED12 leading to R961W causes Opitz-Kaveggia syndrome

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3591845

Mediator modulates Gli3-dependent Sonic hedgehog signaling

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3591845

Dynamic regulation of pol II transcription by the mammalian Mediator complex

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3591845

A complex of the Srb8, -9, -10, and -11 transcriptional regulatory proteins from yeast

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3591845

Evidence for a mediator of RNA polymerase II transcriptional regulation conserved from yeast to man

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3591845

Structure, function, and activator-induced conformations of the CRSP coactivator

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3591845

Predicting deleterious amino acid substitutions

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3591845

Structural organization of yeast and mammalian mediator complexes

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3591845

Two additional cases of the Ohdo blepharophimosis syndrome

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3591845

Mental retardation associated with congenital heart disease, blepharophimosis, blepharoptosis, and hypoplastic teeth

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3591845

The human CDK8 subcomplex is a molecular switch that controls Mediator coactivator function

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3591845

De novo mutations of SETBP1 cause Schinzel-Giedion syndrome

28 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3591845

Evaluating five dedicated automatic devices for haemoglobinopathy diagnostics in multi-ethnic populations

20 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3591845

A clinical and genetic study of the Say/Barber/Biesecker/Young-Simpson type of Ohdo syndrome

20 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3591845

The original Lujan syndrome family has a novel missense mutation (p.N1007S) in the MED12 gene

20 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3591845

Blepharophimosis-mental retardation (BMR) syndromes: A proposed clinical classification of the so-called Ohdo syndrome, and delineation of two new BMR syndromes, one X-linked and one autosomal recessive

20 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3591845

Mediator is a transducer of Wnt/beta-catenin signaling.

20 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3591845

Uterine leiomyomata with t(10;17) disrupt the histone acetyltransferase MORF

20 September 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/23395478

12 December 2020

inferred from PubMed ID database lookup

Involvement of 10q22 in leiomyoma

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/23395478

12 December 2020

inferred from PubMed ID database lookup

X chromosome inactivation does not define the development of premature ovarian failure in fragile X premutation carriers

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/23395478

12 December 2020

inferred from PubMed ID database lookup

Identifiers

DOI

10.1016/J.AJHG.2013.01.007

1 reference

15 August 2017

1 reference

15 August 2017

PubMed publication ID

23395478

1 reference