Matches in SemOpenAlex for { <https://semopenalex.org/work/W4282002057> ?p ?o ?g. }
- W4282002057 abstract "Microrchidia CW-type zinc finger 2 (MORC2) gene encodes a protein expressed in all tissues and enriched in the brain. MORC2 protein is composed of a catalytic ATPase domain, three coil-coiled domains allowing dimerization or protein complex interaction, a zinc-finger CW domain allowing DNA interaction, and a CHROMO-like (CHRromatin Organization Modifier) domain. Recently, de novo or dominantly inherited heterozygous mutations have been associated with a spectrum of disorders affecting the peripheral nervous system such as the Charcot-Marie-Tooth disease, spinal muscular atrophy-like phenotype disorder, or a neurodevelopmental syndrome associated with developmental delay, impaired growth, dysmorphic facies, and axonal neuropathy (DIGFAN). In this review, we detail the various mutations of MORC2 and their consequences on clinical manifestations. Possible genotype-phenotype correlations as well as intra and inter-family variability are discussed. MORC2 molecular functions such as transcriptional modulation, DNA damage repair, and lipid metabolism are then reviewed. We further discuss the impact of MORC2 mutations on the epigenetic landscape in the neuromuscular system and hypothesize probable pathophysiological mechanisms underlying the phenotypic variability observed." @default.
- W4282002057 created "2022-06-13" @default.
- W4282002057 creator A5013299090 @default.
- W4282002057 creator A5031444595 @default.
- W4282002057 creator A5034985530 @default.
- W4282002057 creator A5040562294 @default.
- W4282002057 date "2022-06-03" @default.
- W4282002057 modified "2023-10-16" @default.
- W4282002057 title "Microrchidia CW-Type Zinc Finger 2, a Chromatin Modifier in a Spectrum of Peripheral Neuropathies" @default.
- W4282002057 cites W1485927957 @default.
- W4282002057 cites W1758544898 @default.
- W4282002057 cites W1936193860 @default.
- W4282002057 cites W1973727692 @default.
- W4282002057 cites W2034979660 @default.
- W4282002057 cites W2035300822 @default.
- W4282002057 cites W2037708553 @default.
- W4282002057 cites W2041519802 @default.
- W4282002057 cites W2059510434 @default.
- W4282002057 cites W2059919630 @default.
- W4282002057 cites W2064713079 @default.
- W4282002057 cites W2074169344 @default.
- W4282002057 cites W2081019639 @default.
- W4282002057 cites W2104979060 @default.
- W4282002057 cites W2119742125 @default.
- W4282002057 cites W2123490990 @default.
- W4282002057 cites W2125572458 @default.
- W4282002057 cites W2125644182 @default.
- W4282002057 cites W2129328548 @default.
- W4282002057 cites W2129598403 @default.
- W4282002057 cites W2130888090 @default.
- W4282002057 cites W2130988208 @default.
- W4282002057 cites W2131172232 @default.
- W4282002057 cites W2131451310 @default.
- W4282002057 cites W2143450094 @default.
- W4282002057 cites W2144792857 @default.
- W4282002057 cites W2145200068 @default.
- W4282002057 cites W2151216008 @default.
- W4282002057 cites W2164585773 @default.
- W4282002057 cites W2168153190 @default.
- W4282002057 cites W2192419223 @default.
- W4282002057 cites W2194732961 @default.
- W4282002057 cites W2281977757 @default.
- W4282002057 cites W2289992601 @default.
- W4282002057 cites W2342218538 @default.
- W4282002057 cites W2406572795 @default.
- W4282002057 cites W2527169367 @default.
- W4282002057 cites W2542159360 @default.
- W4282002057 cites W2566189817 @default.
- W4282002057 cites W2583862156 @default.
- W4282002057 cites W2600424662 @default.
- W4282002057 cites W2605562708 @default.
- W4282002057 cites W2623515775 @default.
- W4282002057 cites W2744471231 @default.
- W4282002057 cites W2765516885 @default.
- W4282002057 cites W2775351627 @default.
- W4282002057 cites W2782741471 @default.
- W4282002057 cites W2782792409 @default.
- W4282002057 cites W2789329186 @default.
- W4282002057 cites W2791677571 @default.
- W4282002057 cites W2801545642 @default.
- W4282002057 cites W2806499828 @default.
- W4282002057 cites W2901901698 @default.
- W4282002057 cites W2909071715 @default.
- W4282002057 cites W2955481832 @default.
- W4282002057 cites W2971657117 @default.
- W4282002057 cites W2992923551 @default.
- W4282002057 cites W3007519770 @default.
- W4282002057 cites W3019781661 @default.
- W4282002057 cites W3042842091 @default.
- W4282002057 cites W3047962254 @default.
- W4282002057 cites W3049150517 @default.
- W4282002057 cites W3080732279 @default.
- W4282002057 cites W3081856342 @default.
- W4282002057 cites W3096233376 @default.
- W4282002057 cites W3111015380 @default.
- W4282002057 cites W3128384494 @default.
- W4282002057 cites W3130358607 @default.
- W4282002057 cites W3131192251 @default.
- W4282002057 cites W3139535723 @default.
- W4282002057 cites W3151212872 @default.
- W4282002057 cites W3175138605 @default.
- W4282002057 cites W3201054264 @default.
- W4282002057 cites W3209616560 @default.
- W4282002057 cites W3212761873 @default.
- W4282002057 cites W3213054967 @default.
- W4282002057 cites W3217694711 @default.
- W4282002057 cites W4206779300 @default.
- W4282002057 cites W4214648900 @default.
- W4282002057 cites W565347010 @default.
- W4282002057 doi "https://doi.org/10.3389/fncel.2022.896854" @default.
- W4282002057 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/35722617" @default.
- W4282002057 hasPublicationYear "2022" @default.
- W4282002057 type Work @default.
- W4282002057 citedByCount "4" @default.
- W4282002057 countsByYear W42820020572022 @default.
- W4282002057 countsByYear W42820020572023 @default.
- W4282002057 crossrefType "journal-article" @default.
- W4282002057 hasAuthorship W4282002057A5013299090 @default.
- W4282002057 hasAuthorship W4282002057A5031444595 @default.
- W4282002057 hasAuthorship W4282002057A5034985530 @default.