Homozygous MED25 mutation implicated in eye–intellectual disability syndrome

[1]  M. Zatz,et al.  Homozygous missense mutation in MED25 segregates with syndromic intellectual disability in a large consanguineous family , 2014, Journal of Medical Genetics.

[2]  María Martín,et al.  Activities at the Universal Protein Resource (UniProt) , 2013, Nucleic Acids Res..

[3]  V. Villeret,et al.  The Mediator complex subunit MED25 is targeted by the N-terminal transactivation domain of the PEA3 group members , 2013, Nucleic acids research.

[4]  K. Katoh,et al.  MAFFT Multiple Sequence Alignment Software Version 7: Improvements in Performance and Usability , 2013, Molecular biology and evolution.

[5]  Robert D. Finn,et al.  InterPro in 2011: new developments in the family and domain prediction database , 2011, Nucleic acids research.

[6]  Robert D. Finn,et al.  HMMER web server: interactive sequence similarity searching , 2011, Nucleic Acids Res..

[7]  John H. Postlethwait,et al.  Wwp2 is essential for palatogenesis mediated by the interaction between Sox9 and mediator subunit 25. , 2011, Nature communications.

[8]  S. Surapureddi,et al.  Med25 Is Required for RNA Polymerase II Recruitment to Specific Promoters, Thus Regulating Xenobiotic and Lipid Metabolism in Human Liver , 2010, Molecular and Cellular Biology.

[9]  Sohail Malik,et al.  The metazoan Mediator co-activator complex as an integrative hub for transcriptional regulation , 2010, Nature Reviews Genetics.

[10]  P. Bork,et al.  A method and server for predicting damaging missense mutations , 2010, Nature Methods.

[11]  Pascal Benkert,et al.  QMEAN server for protein model quality estimation , 2009, Nucleic Acids Res..

[12]  J. Lupski,et al.  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 , 2009, neurogenetics.

[13]  Cyrus Chothia,et al.  SUPERFAMILY—sophisticated comparative genomics, data mining, visualization and phylogeny , 2008, Nucleic Acids Res..

[14]  F. Holstege,et al.  Mediator-dependent recruitment of TFIIH modules in preinitiation complex. , 2008, Molecular cell.

[15]  E. Birney,et al.  Pfam: the protein families database , 2013, Nucleic Acids Res..

[16]  S. Um,et al.  MED25 is distinct from TRAP220/MED1 in cooperating with CBP for retinoid receptor activation , 2007, The EMBO journal.

[17]  Manfred J. Sippl,et al.  Thirty years of environmental health research--and growing. , 1996, Nucleic Acids Res..

[18]  J. Zlotogora,et al.  Genetic screening for autosomal recessive nonsyndromic mental retardation in an isolated population in Israel , 2007, European Journal of Human Genetics.

[19]  C. Walsh,et al.  The CC2D1A, a member of a new gene family with C2 domains, is involved in autosomal recessive non-syndromic mental retardation , 2005, Journal of Medical Genetics.

[20]  Itay Mayrose,et al.  ConSurf 2005: the projection of evolutionary conservation scores of residues on protein structures , 2005, Nucleic Acids Res..

[21]  Leszek Rychlewski,et al.  FFAS03: a server for profile–profile sequence alignments , 2005, Nucleic Acids Res..

[22]  Roger D Kornberg,et al.  Mediator and the mechanism of transcriptional activation. , 2005, Trends in biochemical sciences.

[23]  Fajun Yang,et al.  The activator-recruited cofactor/Mediator coactivator subunit ARC92 is a functionally important target of the VP16 transcriptional activator. , 2004, Proceedings of the National Academy of Sciences of the United States of America.

[24]  E. Kremmer,et al.  A novel docking site on Mediator is critical for activation by VP16 in mammalian cells , 2003, The EMBO journal.

[25]  Timothy A. Springer,et al.  Structure and allosteric regulation of the αXβ2 integrin I domain , 2003, Proceedings of the National Academy of Sciences of the United States of America.

[26]  T. Shohat,et al.  Trends in the frequencies of consanguineous marriages in the Israeli Arab community , 2000, Clinical genetics.

[27]  M. Karplus,et al.  Evaluation of comparative protein modeling by MODELLER , 1995, Proteins.

[28]  J. Bailey-Wilson,et al.  Consanguineous matings in an Israeli-Arab community. , 1994, Archives of pediatrics & adolescent medicine.

[29]  G Vriend,et al.  WHAT IF: a molecular modeling and drug design program. , 1990, Journal of molecular graphics.

[30]  R. Doolittle,et al.  A simple method for displaying the hydropathic character of a protein. , 1982, Journal of molecular biology.

[31]  Liam J. McGuffin,et al.  Rapid model quality assessment for protein structure predictions using the comparison of multiple models without structural alignments , 2010, Bioinform..

[32]  S. Henikoff,et al.  Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm , 2009, Nature Protocols.

[33]  M. Shimaoka,et al.  Structure and allosteric regulation of the alpha X beta 2 integrin I domain. , 2003, Proceedings of the National Academy of Sciences of the United States of America.