Functional mechanism and pathogenic potential of MYRF ICA domain mutations implicated in birth defects

scientific article published on 21 January 2020

Functional mechanism and pathogenic potential of MYRF ICA domain mutations implicated in birth defects is …
instance of (P31):
scholarly articleQ13442814

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P356DOI10.1038/S41598-020-57593-8
P932PMC publication ID6972908
P698PubMed publication ID31964908

P50authorYungki ParkQ91239781
P2093author name stringChuandong Fan
Yannick Poitelon
Mohamed Sharif
Dongkyeong Kim
Hongjoo An
P2860cites workStructure of the DNA-binding domain of human myelin-gene regulatory factor reveals its potential protein-DNA recognition modeQ88576428
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MYRF haploinsufficiency causes 46,XY and 46,XX disorders of sex development: bioinformatics considerationQ93096698
MYRF is a membrane-associated transcription factor that autoproteolytically cleaves to directly activate myelin genesQ21090170
An orthologue of the Myelin-gene Regulatory Transcription Factor regulates Dictyostelium prestalk differentiationQ24612888
Myelin gene regulatory factor is a critical transcriptional regulator required for CNS myelinationQ24657511
A global reference for human genetic variationQ25909434
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Crystal structure of an intramolecular chaperone mediating triple-beta-helix foldingQ27659320
Myelin gene regulatory factor is required for maintenance of myelin and mature oligodendrocyte identity in the adult CNSQ28274507
A Bacteriophage tailspike domain promotes self-cleavage of a human membrane-bound transcription factor, the myelin regulatory factor MYRFQ28535280
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Regulation of the C. elegans molt by pqn-47.Q30538454
Myrf ER-Bound Transcription Factors Drive C. elegans Synaptic Plasticity via Cleavage-Dependent Nuclear TranslocationQ32874792
Homo-trimerization is essential for the transcription factor function of Myrf for oligodendrocyte differentiationQ33701686
Crystal structure of the DNA-binding domain of Myelin-gene Regulatory FactorQ33807969
An RNA-sequencing transcriptome and splicing database of glia, neurons, and vascular cells of the cerebral cortex.Q34123789
Myelin regulatory factor drives remyelination in multiple sclerosisQ38718081
Lines of murine oligodendroglial precursor cells immortalized by an activated neu tyrosine kinase show distinct degrees of interaction with axons in vitro and in vivo.Q41341474
A new kind of membrane-tethered eukaryotic transcription factor that shares an auto-proteolytic processing mechanism with bacteriophage tail-spike proteinsQ42268648
Proteolytic processing and oligomerization of bacteriophage-derived endosialidasesQ42693827
Purification of oligodendrocyte lineage cells from mouse cortices by immunopanningQ44731877
Contribution of rare inherited and de novo variants in 2,871 congenital heart disease probands.Q46564299
Motor skill learning requires active central myelination.Q48482406
MYRF is associated with encephalopathy with reversible myelin vacuolizationQ50424245
De novo variants in Myelin regulatory factor (MYRF) as candidates of a new syndrome of cardiac and urogenital anomalies.Q52694801
Characterization of a novel intramolecular chaperone domain conserved in endosialidases and other bacteriophage tail spike and fiber proteins.Q53583830
De novo variants in congenital diaphragmatic hernia identify MYRF as a new syndrome and reveal genetic overlaps with other developmental disordersQ60907127
Variants in myelin regulatory factor (MYRF) cause autosomal dominant and syndromic nanophthalmos in humans and retinal degeneration in mice.Q64885738
P433issue1
P304page(s)814
P577publication date2020-01-21
P1433published inScientific ReportsQ2261792
P1476titleFunctional mechanism and pathogenic potential of MYRF ICA domain mutations implicated in birth defects
P478volume10