Homozygous MED25 mutation implicated in eye-intellectual disability syndrome (Q38897235)

7 September 2017

Homozygous MED25 mutation implicated in eye-intellectual disability syndrome (English)

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7 September 2017

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Lina Basel-Vanagaite

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Metsada Pasmanik-Chor

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object named as

Metsada Pasmanik-Chor

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7 September 2017

Mali Salmon-Divon

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Didier Monté

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Didier Monté

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Doron M. Behar

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object named as

Doron M Behar

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7 September 2017

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Shay Tzur

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7 September 2017

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Mordechai Shohat

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7 September 2017

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Nurit Magal

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7 September 2017

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Idit Maya

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7 September 2017

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Valerie Drasinover

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7 September 2017

Pola Smirin-Yosef

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7 September 2017

Jenna Lee Essakow

3

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7 September 2017

Irina Lagovsky

5

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7 September 2017

Adva Yeheskel

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7 September 2017

Osnat Konen

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7 September 2017

Naama Orenstein

10

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7 September 2017

Monika Weisz Hubshman

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7 September 2017

Gaby Peretz Amit

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7 September 2017

Yael Zalzstein

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7 September 2017

Avraham Zeharia

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7 September 2017

Rachel Straussberg

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7 September 2017

20 March 2015

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7 September 2017

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134

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577-587

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https://scigraph.springernature.com/pub.10.1007/s00439-015-1541-x

7 September 2017

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cites work

A method and server for predicting damaging missense mutations

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The CC2D1A, a member of a new gene family with C2 domains, is involved in autosomal recessive non-syndromic mental retardation

21 January 2018

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Genetic screening for autosomal recessive nonsyndromic mental retardation in an isolated population in Israel.

21 January 2018

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21 January 2018

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QMEAN server for protein model quality estimation

21 January 2018

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Mediator-dependent recruitment of TFIIH modules in preinitiation complex

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-015-1541-X

Homozygous missense mutation in MED25 segregates with syndromic intellectual disability in a large consanguineous family

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-015-1541-X

HMMER web server: interactive sequence similarity searching

21 January 2018

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Pfam: the protein families database

21 January 2018

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InterPro in 2011: new developments in the family and domain prediction database

21 January 2018

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Consanguineous matings in an Israeli-Arab community

21 January 2018

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FFAS03: a server for profile--profile sequence alignments

21 January 2018

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MAFFT Multiple Sequence Alignment Software Version 7: Improvements in Performance and Usability

21 January 2018

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Mediator and the mechanism of transcriptional activation

21 January 2018

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Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm

21 January 2018

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A simple method for displaying the hydropathic character of a protein

21 January 2018

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ConSurf 2005: the projection of evolutionary conservation scores of residues on protein structures

21 January 2018

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Identification of the variant Ala335Val of MED25 as responsible for CMT2B2: molecular data, functional studies of the SH3 recognition motif and correlation between wild-type MED25 and PMP22 RNA levels in CMT1A animal models

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-015-1541-X

MED25 is distinct from TRAP220/MED1 in cooperating with CBP for retinoid receptor activation

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-015-1541-X

The metazoan Mediator co-activator complex as an integrative hub for transcriptional regulation

21 January 2018

1 reference

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Rapid model quality assessment for protein structure predictions using the comparison of multiple models without structural alignments.

21 January 2018

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A novel docking site on Mediator is critical for activation by VP16 in mammalian cells

21 January 2018

1 reference

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Wwp2 is essential for palatogenesis mediated by the interaction between Sox9 and mediator subunit 25

21 January 2018

1 reference

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Med25 is required for RNA polymerase II recruitment to specific promoters, thus regulating xenobiotic and lipid metabolism in human liver

21 January 2018

1 reference

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Evaluation of comparative protein modeling by MODELLER

21 January 2018

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Activities at the Universal Protein Resource (UniProt)

21 January 2018

1 reference

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The Mediator complex subunit MED25 is targeted by the N-terminal transactivation domain of the PEA3 group members

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-015-1541-X

Structure and allosteric regulation of the X 2 integrin I domain

21 January 2018

1 reference

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WHAT IF: a molecular modeling and drug design program

21 January 2018

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ProSA-web: interactive web service for the recognition of errors in three-dimensional structures of proteins

21 January 2018

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SUPERFAMILY--sophisticated comparative genomics, data mining, visualization and phylogeny

21 January 2018

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The activator-recruited cofactor/Mediator coactivator subunit ARC92 is a functionally important target of the VP16 transcriptional activator

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-015-1541-X

Trends in the frequencies of consanguineous marriages in the Israeli Arab community

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/25792360

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1007/S00439-015-1541-X

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Dimensions Publication ID

7 September 2017

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