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Literature DB >> 32021594

Mutations in Mediator Complex Genes CDK8, MED12, MED13, and MEDL13 Mediate Overlapping Developmental Syndromes.

Martin Poot.

Abstract

Entities: Gene

Year: 2019 PMID： 32021594 PMCID： PMC6997798 DOI： 10.1159/000502346

Source DB: PubMed Journal: Mol Syndromol ISSN： 1661-8769

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35 in total

Review 1. Disentangling the myriad genomics of complex disorders, specifically focusing on autism, epilepsy, and schizophrenia.

Authors: M Poot; J J van der Smagt; E H Brilstra; T Bourgeron
Journal: Cytogenet Genome Res Date: 2011-11-12 Impact factor: 1.636

Review 2. Dominance and gene dosage balance in health and disease: why levels matter!

Authors: Reiner A Veitia; James A Birchler
Journal: J Pathol Date: 2010-01 Impact factor: 7.996

3. Impairment of different protein domains causes variable clinical presentation within Pitt-Hopkins syndrome and suggests intragenic molecular syndromology of TCF4.

Authors: Maria Francesca Bedeschi; Giuseppe Marangi; Maria Rosaria Calvello; Stefania Ricciardi; Francesca Pia Chiara Leone; Marco Baccarin; Silvana Guerneri; Daniela Orteschi; Marina Murdolo; Serena Lattante; Silvia Frangella; Beth Keena; Margaret H Harr; Elaine Zackai; Marcella Zollino
Journal: Eur J Med Genet Date: 2017-08-12 Impact factor: 2.708

Review 4. Impaired development of neural-crest cell-derived organs and intellectual disability caused by MED13L haploinsufficiency.

Authors: Kagistia Hana Utami; Cecilia Lanny Winata; Axel M Hillmer; Irene Aksoy; Hoang Truong Long; Herty Liany; Elaine G Y Chew; Sinnakaruppan Mathavan; Stacey K H Tay; Vladimir Korzh; Pierre Sarda; Sonia Davila; Valere Cacheux
Journal: Hum Mutat Date: 2014-09-23 Impact factor: 4.878

5. Prevention of premature fusion of calvarial suture in GLI-Kruppel family member 3 (Gli3)-deficient mice by removing one allele of Runt-related transcription factor 2 (Runx2).

Authors: Yukiho Tanimoto; Lotta Veistinen; Kirsi Alakurtti; Maarit Takatalo; David P C Rice
Journal: J Biol Chem Date: 2012-04-30 Impact factor: 5.157

Review 6. Mechanisms of Origin, Phenotypic Effects and Diagnostic Implications of Complex Chromosome Rearrangements.

Authors: Martin Poot; Thomas Haaf
Journal: Mol Syndromol Date: 2015-08-15

7. Molecular cytogenetic analysis and resequencing of contactin associated protein-like 2 in autism spectrum disorders.

Authors: Betul Bakkaloglu; Brian J O'Roak; Angeliki Louvi; Abha R Gupta; Jesse F Abelson; Thomas M Morgan; Katarzyna Chawarska; Ami Klin; A Gulhan Ercan-Sencicek; Althea A Stillman; Gamze Tanriover; Brett S Abrahams; Jackie A Duvall; Elissa M Robbins; Daniel H Geschwind; Thomas Biederer; Murat Gunel; Richard P Lifton; Matthew W State
Journal: Am J Hum Genet Date: 2008-01 Impact factor: 11.025

8. De novo mutations in moderate or severe intellectual disability.

Authors: Fadi F Hamdan; Myriam Srour; Jose-Mario Capo-Chichi; Hussein Daoud; Christina Nassif; Lysanne Patry; Christine Massicotte; Amirthagowri Ambalavanan; Dan Spiegelman; Ousmane Diallo; Edouard Henrion; Alexandre Dionne-Laporte; Anne Fougerat; Alexey V Pshezhetsky; Sunita Venkateswaran; Guy A Rouleau; Jacques L Michaud
Journal: PLoS Genet Date: 2014-10-30 Impact factor: 5.917

9. Dysregulations of sonic hedgehog signaling in MED12-related X-linked intellectual disability disorders.

Authors: Siddharth Srivastava; Tejasvi Niranjan; Melanie M May; Patrick Tarpey; William Allen; Anna Hackett; Pierre-Simon Jouk; Lucy Raymond; Slyvain Briault; Cindy Skinner; Annick Toutain; Jozef Gecz; William Heath; Roger E Stevenson; Charles E Schwartz; Tao Wang
Journal: Mol Genet Genomic Med Date: 2019-02-06 Impact factor: 2.183

10. De novo mutations in MED13, a component of the Mediator complex, are associated with a novel neurodevelopmental disorder.

Authors: Lot Snijders Blok; Susan M Hiatt; Kevin M Bowling; Jeremy W Prokop; Krysta L Engel; J Nicholas Cochran; E Martina Bebin; Emilia K Bijlsma; Claudia A L Ruivenkamp; Paulien Terhal; Marleen E H Simon; Rosemarie Smith; Jane A Hurst; Heather McLaughlin; Richard Person; Amy Crunk; Michael F Wangler; Haley Streff; Joseph D Symonds; Sameer M Zuberi; Katherine S Elliott; Victoria R Sanders; Abigail Masunga; Robert J Hopkin; Holly A Dubbs; Xilma R Ortiz-Gonzalez; Rolph Pfundt; Han G Brunner; Simon E Fisher; Tjitske Kleefstra; Gregory M Cooper
Journal: Hum Genet Date: 2018-05-08 Impact factor: 4.132

5 in total

Mutations in Mediator Complex Genes CDK8, MED12, MED13, and MEDL13 Mediate Overlapping Developmental Syndromes.

Review 1. Disentangling the myriad genomics of complex disorders, specifically focusing on autism, epilepsy, and schizophrenia.

Review 2. Dominance and gene dosage balance in health and disease: why levels matter!

3. Impairment of different protein domains causes variable clinical presentation within Pitt-Hopkins syndrome and suggests intragenic molecular syndromology of TCF4.

Review 4. Impaired development of neural-crest cell-derived organs and intellectual disability caused by MED13L haploinsufficiency.

5. Prevention of premature fusion of calvarial suture in GLI-Kruppel family member 3 (Gli3)-deficient mice by removing one allele of Runt-related transcription factor 2 (Runx2).

Review 6. Mechanisms of Origin, Phenotypic Effects and Diagnostic Implications of Complex Chromosome Rearrangements.

7. Molecular cytogenetic analysis and resequencing of contactin associated protein-like 2 in autism spectrum disorders.

8. De novo mutations in moderate or severe intellectual disability.

9. Dysregulations of sonic hedgehog signaling in MED12-related X-linked intellectual disability disorders.

10. De novo mutations in MED13, a component of the Mediator complex, are associated with a novel neurodevelopmental disorder.

Review 1. Transcription Pause and Escape in Neurodevelopmental Disorders.

Review 2. MED12-Related (Neuro)Developmental Disorders: A Question of Causality.

3. Somatic and de novo Germline Variants of MEDs in Human Neural Tube Defects.

4. Aberrant cyclin C nuclear release induces mitochondrial fragmentation and dysfunction in MED13L syndrome fibroblasts.

Review 5. Potential roles of mediator Complex Subunit 13 in Cardiac Diseases.