Literature DB >> 26912637

Severe axonal Charcot-Marie-Tooth disease with proximal weakness caused by de novo mutation in the MORC2 gene.

Petra Laššuthová1, Dana Šafka Brožková2, Marcela Krůtová2, Radim Mazanec3, Stephan Züchner4, Michael A Gonzalez4, Pavel Seeman2.   

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Year:  2016        PMID： 26912637      PMCID： PMC6276929          DOI： 10.1093/brain/awv411

Source DB:  PubMed          Journal:  Brain        ISSN： 0006-8950            Impact factor:   13.501


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  4 in total

1.  Innovative genomic collaboration using the GENESIS (GEM.app) platform.

Authors:  Michael Gonzalez; Marni J Falk; Xiaowu Gai; Richard Postrel; Rebecca Schüle; Stephan Zuchner
Journal:  Hum Mutat       Date:  2015-08-12       Impact factor: 4.878

2.  Mutations in the MORC2 gene cause axonal Charcot-Marie-Tooth disease.

Authors:  Teresa Sevilla; Vincenzo Lupo; Dolores Martínez-Rubio; Paula Sancho; Rafael Sivera; María J Chumillas; Mar García-Romero; Samuel I Pascual-Pascual; Nuria Muelas; Joaquín Dopazo; Juan J Vílchez; Francesc Palau; Carmen Espinós
Journal:  Brain       Date:  2015-10-24       Impact factor: 13.501

3.  Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Authors:  Sue Richards; Nazneen Aziz; Sherri Bale; David Bick; Soma Das; Julie Gastier-Foster; Wayne W Grody; Madhuri Hegde; Elaine Lyon; Elaine Spector; Karl Voelkerding; Heidi L Rehm
Journal:  Genet Med       Date:  2015-03-05       Impact factor: 8.822

4.  Guidelines for investigating causality of sequence variants in human disease.

Authors:  D G MacArthur; T A Manolio; D P Dimmock; H L Rehm; J Shendure; G R Abecasis; D R Adams; R B Altman; S E Antonarakis; E A Ashley; J C Barrett; L G Biesecker; D F Conrad; G M Cooper; N J Cox; M J Daly; M B Gerstein; D B Goldstein; J N Hirschhorn; S M Leal; L A Pennacchio; J A Stamatoyannopoulos; S R Sunyaev; D Valle; B F Voight; W Winckler; C Gunter
Journal:  Nature       Date:  2014-04-24       Impact factor: 49.962
  4 in total
  8 in total

1.  Hyperactivation of HUSH complex function by Charcot-Marie-Tooth disease mutation in MORC2.

Authors:  Iva A Tchasovnikarova; Richard T Timms; Christopher H Douse; Rhys C Roberts; Gordon Dougan; Robert E Kingston; Yorgo Modis; Paul J Lehner
Journal:  Nat Genet       Date:  2017-06-05       Impact factor: 38.330

2.  MORC2/β-catenin signaling axis promotes proliferation and migration of breast cancer cells.

Authors:  Himanshu Singh Saroha; Rohith Kumar Guddeti; Jasmine P Jacob; Kiran Kumar Pulukuri; Prashanthi Karyala; Suresh B Pakala
Journal:  Med Oncol       Date:  2022-06-21       Impact factor: 3.064

Review 3.  Microrchidia CW-Type Zinc Finger 2, a Chromatin Modifier in a Spectrum of Peripheral Neuropathies.

Authors:  Arnaud Jacquier; Simon Roubille; Patrick Lomonte; Laurent Schaeffer
Journal:  Front Cell Neurosci       Date:  2022-06-03       Impact factor: 6.147

4.  De Novo Variants in the ATPase Module of MORC2 Cause a Neurodevelopmental Disorder with Growth Retardation and Variable Craniofacial Dysmorphism.

Authors:  Maria J Guillen Sacoto; Iva A Tchasovnikarova; Erin Torti; Cara Forster; E Hallie Andrew; Irina Anselm; Kristin W Baranano; Lauren C Briere; Julie S Cohen; William J Craigen; Cheryl Cytrynbaum; Nina Ekhilevitch; Matthew J Elrick; Ali Fatemi; Jamie L Fraser; Renata C Gallagher; Andrea Guerin; Devon Haynes; Frances A High; Cara N Inglese; Courtney Kiss; Mary Kay Koenig; Joel Krier; Kristin Lindstrom; Michael Marble; Hannah Meddaugh; Ellen S Moran; Chantal F Morel; Weiyi Mu; Eric A Muller; Jessica Nance; Marvin R Natowicz; Adam L Numis; Bridget Ostrem; John Pappas; Carl E Stafstrom; Haley Streff; David A Sweetser; Marta Szybowska; Melissa A Walker; Wei Wang; Karin Weiss; Rosanna Weksberg; Patricia G Wheeler; Grace Yoon; Robert E Kingston; Jane Juusola
Journal:  Am J Hum Genet       Date:  2020-07-20       Impact factor: 11.025

5.  Neuropathic MORC2 mutations perturb GHKL ATPase dimerization dynamics and epigenetic silencing by multiple structural mechanisms.

Authors:  Christopher H Douse; Stuart Bloor; Yangci Liu; Maria Shamin; Iva A Tchasovnikarova; Richard T Timms; Paul J Lehner; Yorgo Modis
Journal:  Nat Commun       Date:  2018-02-13       Impact factor: 14.919

6.  MORC2, a novel oncogene, is upregulated in liver cancer and contributes to proliferation, metastasis and chemoresistance.

Authors:  Zhihong Pan; Qianshan Ding; Qian Guo; Yong Guo; Lianlian Wu; Lu Wu; Meng Tang; Honggang Yu; Fuxiang Zhou
Journal:  Int J Oncol       Date:  2018-03-27       Impact factor: 5.650

Review 7.  The Role of Small Heat Shock Proteins in Protein Misfolding Associated Motoneuron Diseases.

Authors:  Barbara Tedesco; Veronica Ferrari; Marta Cozzi; Marta Chierichetti; Elena Casarotto; Paola Pramaggiore; Francesco Mina; Mariarita Galbiati; Paola Rusmini; Valeria Crippa; Riccardo Cristofani; Angelo Poletti
Journal:  Int J Mol Sci       Date:  2022-10-04       Impact factor: 6.208

8.  Characterization of genotype-phenotype correlation with MORC2 mutated Axonal Charcot-Marie-Tooth disease in a cohort of Chinese patients.

Authors:  Xiaohui Duan; Xiaoxuan Liu; Guochun Wang; Weihong Gu; Min Xu; Ying Hao; Mingrui Dong; Qing Sun; Shaojie Sun; Yuanyuan Chen; Wei Wang; Jing Li; Yuting Zhang; Zhenhua Cao; Dongsheng Fan; Renbin Wang; Yuwei Da
Journal:  Orphanet J Rare Dis       Date:  2021-05-31       Impact factor: 4.123
  8 in total

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