Literature DB >> 29396090

Generalized dystonia associated with mutation in the histone methyltransferase gene KMT2B (DYT28) and white matter abnormalities.

José Fidel Baizabal-Carvallo1, Marlene Alonso-Juarez2.   

Abstract

Entities:  

Keywords:  DYT28; Dystonia; Hereditary

Mesh：

Substances：

Year:  2018        PMID： 29396090     DOI： 10.1016/j.parkreldis.2018.01.016

Source DB:  PubMed          Journal:  Parkinsonism Relat Disord        ISSN： 1353-8020            Impact factor:   4.891


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  7 in total

Review 1.  Update on KMT2B-Related Dystonia.

Authors:  Michael Zech; Daniel D Lam; Juliane Winkelmann
Journal:  Curr Neurol Neurosci Rep       Date:  2019-11-25       Impact factor: 5.081

2.  Identification of a novel de novo KMT2B variant in a Greek dystonia patient via exome sequencing genotype-phenotype correlations of all published cases.

Authors:  Chrysoula Marogianni; Despoina Georgouli; Katerina Dadouli; Panagiotis Ntellas; Dimitrios Rikos; Georgios M Hadjigeorgiou; Cleanthi Spanaki; Georgia Xiromerisiou
Journal:  Mol Biol Rep       Date:  2020-12-09       Impact factor: 2.316

3.  A pathogenic DYT-THAP1 dystonia mutation causes hypomyelination and loss of YY1 binding.

Authors:  Dhananjay Yellajoshyula; Abigail E Rogers; Audrey J Kim; Sumin Kim; Samuel S Pappas; William T Dauer
Journal:  Hum Mol Genet       Date:  2022-03-31       Impact factor: 5.121

4.  Dystonia-specific mutations in THAP1 alter transcription of genes associated with neurodevelopment and myelin.

Authors:  Aloysius Domingo; Rachita Yadav; Shivangi Shah; William T Hendriks; Serkan Erdin; Dadi Gao; Kathryn O'Keefe; Benjamin Currall; James F Gusella; Nutan Sharma; Laurie J Ozelius; Michelle E Ehrlich; Michael E Talkowski; D Cristopher Bragg
Journal:  Am J Hum Genet       Date:  2021-10-20       Impact factor: 11.025

5.  KMT2B-related disorders: expansion of the phenotypic spectrum and long-term efficacy of deep brain stimulation.

Authors:  Laura Cif; Diane Demailly; Jean-Pierre Lin; Katy E Barwick; Mario Sa; Lucia Abela; Sony Malhotra; Wui K Chong; Dora Steel; Alba Sanchis-Juan; Adeline Ngoh; Natalie Trump; Esther Meyer; Xavier Vasques; Julia Rankin; Meredith W Allain; Carolyn D Applegate; Sanaz Attaripour Isfahani; Julien Baleine; Bettina Balint; Jennifer A Bassetti; Emma L Baple; Kailash P Bhatia; Catherine Blanchet; Lydie Burglen; Gilles Cambonie; Emilie Chan Seng; Sandra Chantot Bastaraud; Fabienne Cyprien; Christine Coubes; Vincent d'Hardemare; Asif Doja; Nathalie Dorison; Diane Doummar; Marisela E Dy-Hollins; Ellyn Farrelly; David R Fitzpatrick; Conor Fearon; Elizabeth L Fieg; Brent L Fogel; Eva B Forman; Rachel G Fox; William A Gahl; Serena Galosi; Victoria Gonzalez; Tracey D Graves; Allison Gregory; Mark Hallett; Harutomo Hasegawa; Susan J Hayflick; Ada Hamosh; Marie Hully; Sandra Jansen; Suh Young Jeong; Joel B Krier; Sidney Krystal; Kishore R Kumar; Chloé Laurencin; Hane Lee; Gaetan Lesca; Laurence Lion François; Timothy Lynch; Neil Mahant; Julian A Martinez-Agosto; Christophe Milesi; Kelly A Mills; Michel Mondain; Hugo Morales-Briceno; John R Ostergaard; Swasti Pal; Juan C Pallais; Frédérique Pavillard; Pierre-Francois Perrigault; Andrea K Petersen; Gustavo Polo; Gaetan Poulen; Tuula Rinne; Thomas Roujeau; Caleb Rogers; Agathe Roubertie; Michelle Sahagian; Elise Schaefer; Laila Selim; Richard Selway; Nutan Sharma; Rebecca Signer; Ariane G Soldatos; David A Stevenson; Fiona Stewart; Michel Tchan; Ishwar C Verma; Bert B A de Vries; Jenny L Wilson; Derek A Wong; Raghda Zaitoun; Dolly Zhen; Anna Znaczko; Russell C Dale; Claudio M de Gusmão; Jennifer Friedman; Victor S C Fung; Mary D King; Shekeeb S Mohammad; Luis Rohena; Jeff L Waugh; Camilo Toro; F Lucy Raymond; Maya Topf; Philippe Coubes; Kathleen M Gorman; Manju A Kurian
Journal:  Brain       Date:  2020-12-05       Impact factor: 13.501

6.  Failure to thrive - an overlooked manifestation of KMT2B-related dystonia: a case presentation.

Authors:  Andrew Ng; Serena Galosi; Lisa Salz; Terence Wong; Caitlin Schwager; Shivarajan Amudhavalli; Rose Gelineau-Morel; Shimul Chowdhury; Jennifer Friedman
Journal:  BMC Neurol       Date:  2020-06-16       Impact factor: 2.474

7.  KMT2C, a histone methyltransferase, is mutated in a family segregating non-syndromic primary failure of tooth eruption.

Authors:  Ali A Assiry; Alia M Albalawi; Muhammad S Zafar; Siraj D Khan; Anhar Ullah; Ahmed Almatrafi; Khushnooda Ramzan; Sulman Basit
Journal:  Sci Rep       Date:  2019-11-11       Impact factor: 4.379
  7 in total

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