De novo variants in Myelin regulatory factor (MYRF) as candidates of a new syndrome of cardiac and urogenital anomalies.

scientific article published on 15 February 2018

De novo variants in Myelin regulatory factor (MYRF) as candidates of a new syndrome of cardiac and urogenital anomalies. is …
instance of (P31):
scholarly articleQ13442814

External links are
P356DOI10.1002/AJMG.A.38620
P932PMC publication ID5867271
P698PubMed publication ID29446546

P50authorElizabeth J BhojQ88594385
Kosuke IzumiQ89230571
P2093author name stringDong Li
Elaine Zackai
Kristin G Monaghan
Stephen R Braddock
Aida Telegrafi
Cara Skraban
Hailey Pinz
Jennifer Tarpinian
Louise C Pyle
P2860cites workMYRF is a membrane-associated transcription factor that autoproteolytically cleaves to directly activate myelin genesQ21090170
Myelin gene regulatory factor is a critical transcriptional regulator required for CNS myelinationQ24657511
The transcription factors Sox10 and Myrf define an essential regulatory network module in differentiating oligodendrocytesQ32874749
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
Congenital diaphragmatic hernia candidate genes derived from embryonic transcriptomes.Q34153404
An encyclopedia of mouse DNA elements (Mouse ENCODE).Q36377972
Analysis of the human tissue-specific expression by genome-wide integration of transcriptomics and antibody-based proteomicsQ37563863
Myelin regulatory factor drives remyelination in multiple sclerosisQ38718081
P433issue4
P407language of work or nameEnglishQ1860
P304page(s)969-972
P577publication date2018-02-15
P1433published inAmerican Journal of Medical GeneticsQ4744254
P1476titleDe novo variants in Myelin regulatory factor (MYRF) as candidates of a new syndrome of cardiac and urogenital anomalies.
P478volume176

Reverse relations

cites work (P2860)
Q60907127De novo variants in congenital diaphragmatic hernia identify MYRF as a new syndrome and reveal genetic overlaps with other developmental disorders
Q91239785Elucidating the transactivation domain of the pleiotropic transcription factor Myrf
Q92824099Functional mechanism and pathogenic potential of MYRF ICA domain mutations implicated in birth defects
Q92575313Novel truncation mutations in MYRF cause autosomal dominant high hyperopia mapped to 11p12-q13.3.
Q64885738Variants in myelin regulatory factor (MYRF) cause autosomal dominant and syndromic nanophthalmos in humans and retinal degeneration in mice.

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