Literature DB >> 27105897

Clinico-genetics in Korean Charcot-Marie-Tooth disease type 2Z with MORC2 mutations.

Young Se Hyun1, Young Bin Hong2, Byung-Ok Choi3, Ki Wha Chung4.   

Abstract

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Year:  2016        PMID： 27105897     DOI： 10.1093/brain/aww082

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


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  9 in total

1.  Stabilization of MORC2 by estrogen and antiestrogens through GPER1- PRKACA-CMA pathway contributes to estrogen-induced proliferation and endocrine resistance of breast cancer cells.

Authors:  Fan Yang; Hong-Yan Xie; Li-Feng Yang; Lin Zhang; Fang-Lin Zhang; Hong-Yi Liu; Da-Qiang Li; Zhi-Ming Shao
Journal:  Autophagy       Date:  2019-09-06       Impact factor: 16.016

2.  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

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.  Wide phenotypic spectrum in axonal Charcot-Marie-Tooth neuropathy type 2 patients with KIF5A mutations.

Authors:  Da Eun Nam; Da Hye Yoo; Sun Seong Choi; Byung-Ok Choi; Ki Wha Chung
Journal:  Genes Genomics       Date:  2017-10-10       Impact factor: 1.839

6.  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

7.  HSP90 N-terminal inhibitors target oncoprotein MORC2 for autophagic degradation and suppress MORC2-driven breast cancer progression.

Authors:  Fan Yang; Rui Sun; Zeng Hou; Fang-Lin Zhang; Yi Xiao; Yun-Song Yang; Shao-Ying Yang; Yi-Fan Xie; Ying-Ying Liu; Cheng Luo; Guang-Yu Liu; Zhi-Min Shao; Da-Qiang Li
Journal:  Clin Transl Med       Date:  2022-05

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

9.  Morc2a p.S87L mutant mice develop peripheral and central neuropathies associated with neuronal DNA damage and apoptosis.

Authors:  Geon Seong Lee; Geon Kwak; Ji Hyun Bae; Jeong Pil Han; Soo Hyun Nam; Jeong Hyeon Lee; Sumin Song; Gap-Don Kim; Tae Sub Park; Yang Kyu Choi; Byung-Ok Choi; Su Cheong Yeom
Journal:  Dis Model Mech       Date:  2021-10-25       Impact factor: 5.758
  9 in total

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