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Showing results for myrf
Search for Myrfl instead (1 results)
MYRF-Related Cardiac Urogenital Syndrome.
Kaplan JD, Stewart B, Prasov L, Pyle LC. Kaplan JD, et al. 2022 Nov 10. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. 2022 Nov 10. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. PMID: 36375006 Free Books & Documents. Review.
DIAGNOSIS/TESTING: The diagnosis of MYRF-CUGS is established in a proband with suggestive findings and a heterozygous pathogenic (or likely pathogenic) variant in MYRF identified by molecular genetic testing. ...Each child of an individual with MYRF-CUGS has …
DIAGNOSIS/TESTING: The diagnosis of MYRF-CUGS is established in a proband with suggestive findings and a heterozygous pathogenic (or …
MYRF: A unique transmembrane transcription factor- from proteolytic self-processing to its multifaceted roles in animal development.
Qi YB, Xu Z, Shen S, Wang Z, Wang Z. Qi YB, et al. Bioessays. 2024 Apr;46(4):e2300209. doi: 10.1002/bies.202300209. Epub 2024 Mar 15. Bioessays. 2024. PMID: 38488284 Review.
The Myelin Regulator Factor (MYRF) is a master regulator governing myelin formation and maintenance in the central nervous system. ...Loss of MYRF results in developmental lethality in both invertebrates and vertebrates, and MYRF haploinsufficiency in humans …
The Myelin Regulator Factor (MYRF) is a master regulator governing myelin formation and maintenance in the central nervous system. .. …
Microglia-derived exosomes modulate myelin regeneration via miR-615-5p/MYRF axis.
Ji XY, Guo YX, Wang LB, Wu WC, Wang JQ, He J, Gao R, Rasouli J, Gao MY, Wang ZH, Xiao D, Zhang WF, Ciric B, Zhang Y, Li X. Ji XY, et al. J Neuroinflammation. 2024 Jan 22;21(1):29. doi: 10.1186/s12974-024-03019-5. J Neuroinflammation. 2024. PMID: 38246987 Free PMC article.
Here, we generated a transcriptional profile of exosomes from activated microglia, and found that miR-615-5p was elevated. miR-615-5p bound to 3'UTR of myelin regulator factor (MYRF), a crucial myelination transcription factor expressed in oligodendrocyte lineage cells. .. …
Here, we generated a transcriptional profile of exosomes from activated microglia, and found that miR-615-5p was elevated. miR-615-5p bound …
Review of the phenotypic spectrum associated with haploinsufficiency of MYRF.
Rossetti LZ, Glinton K, Yuan B, Liu P, Pillai N, Mizerik E, Magoulas P, Rosenfeld JA, Karaviti L, Sutton VR, Lalani SR, Scott DA. Rossetti LZ, et al. Am J Med Genet A. 2019 Jul;179(7):1376-1382. doi: 10.1002/ajmg.a.61182. Epub 2019 May 8. Am J Med Genet A. 2019. PMID: 31069960 Free PMC article. Review.
The myelin regulatory factor gene (MYRF) encodes a transcription factor that is widely expressed. There is increasing evidence that heterozygous loss-of-function variants in MYRF can lead to abnormal development of the heart, genitourinary tract, diaphragm, and lung …
The myelin regulatory factor gene (MYRF) encodes a transcription factor that is widely expressed. There is increasing evidence that h …
MYRF mutation leads to a single manifestation of sexual development and mimics partial androgen insensitivity syndrome: a case report and literature review.
Zhang D, Tian Q. Zhang D, et al. Gynecol Endocrinol. 2024 Mar 15;40(1):2331072. doi: 10.1080/09513590.2024.2331072. Epub 2024 Mar 28. Gynecol Endocrinol. 2024. PMID: 38547923 Free article. Review.
Therefore, the partial AIS was suspected, but the following whole exon sequencing indicates a pathological missense mutation in MYRF. Further investigation and surgery did not reveal any brain, heart, lung or diaphragm lesions related to MYRF, but only maldeveloped …
Therefore, the partial AIS was suspected, but the following whole exon sequencing indicates a pathological missense mutation in MYRF. …
Truncation mutations in MYRF underlie primary angle closure glaucoma.
Ouyang J, Sun W, Shen H, Liu X, Wu Y, Jiang H, Li X, Wang Y, Jiang Y, Li S, Xiao X, Hejtmancik JF, Tan Z, Zhang Q. Ouyang J, et al. Hum Genet. 2023 Jan;142(1):103-123. doi: 10.1007/s00439-022-02487-0. Epub 2022 Sep 21. Hum Genet. 2023. PMID: 36129575
Co-immunoprecipitation demonstrates a physical association of DNMT3A with MYRF. DNA methylation sequencing identifies several glaucoma-related cell events in Myrf(mut/+) retinas. The interaction between MYRF and DNMT3A underlies MYRF-associated PACG an …
Co-immunoprecipitation demonstrates a physical association of DNMT3A with MYRF. DNA methylation sequencing identifies several glaucom …
Myrf guides target gene selection of transcription factor Sox10 during oligodendroglial development.
Aprato J, Sock E, Weider M, Elsesser O, Fröb F, Wegner M. Aprato J, et al. Nucleic Acids Res. 2020 Feb 20;48(3):1254-1270. doi: 10.1093/nar/gkz1158. Nucleic Acids Res. 2020. PMID: 31828317 Free PMC article.
By characterization of the exact DNA-binding requirements of Myrf, we furthermore show that cooperative activation is a consequence of joint binding of Sox10 and Myrf to the same regulatory regions. In contrast, inhibition of Sox10-dependent gene activation occurs o …
By characterization of the exact DNA-binding requirements of Myrf, we furthermore show that cooperative activation is a consequence o …
Nanophthalmos-Associated MYRF Gene Mutation Causes Ciliary Zonule Defects in Mice.
Yu X, Sun N, Yang X, Zhao Z, Su X, Zhang J, He Y, Lin Y, Ge J, Fan Z. Yu X, et al. Invest Ophthalmol Vis Sci. 2021 Mar 1;62(3):1. doi: 10.1167/iovs.62.3.1. Invest Ophthalmol Vis Sci. 2021. PMID: 33646289 Free PMC article.
METHODS: Human MYRF nanophthalmos frameshift mutation was generated in mouse using the CRISPR-Cas9 system. ...ACD was reduced in MYRF mutant mice (MYRFmut/+) compared with that in littermate control mice (MYRF+/+). ...
METHODS: Human MYRF nanophthalmos frameshift mutation was generated in mouse using the CRISPR-Cas9 system. ...ACD was reduced in M …
Functional mechanisms of MYRF DNA-binding domain mutations implicated in birth defects.
Fan C, An H, Sharif M, Kim D, Park Y. Fan C, et al. J Biol Chem. 2021 Jan-Jun;296:100612. doi: 10.1016/j.jbc.2021.100612. Epub 2021 Mar 30. J Biol Chem. 2021. PMID: 33798553 Free PMC article.
It remains unknown whether and how these four mutations alter the transcription factor function of MYRF. Here, we studied them by introducing homologous mutations to the mouse Myrf protein. ...We observed that one copy of Myrf-F387S, Myrf-Q403H, or …
It remains unknown whether and how these four mutations alter the transcription factor function of MYRF. Here, we studied them by int …
MYRF haploinsufficiency causes 46,XY and 46,XX disorders of sex development: bioinformatics consideration.
Hamanaka K, Takata A, Uchiyama Y, Miyatake S, Miyake N, Mitsuhashi S, Iwama K, Fujita A, Imagawa E, Alkanaq AN, Koshimizu E, Azuma Y, Nakashima M, Mizuguchi T, Saitsu H, Wada Y, Minami S, Katoh-Fukui Y, Masunaga Y, Fukami M, Hasegawa T, Ogata T, Matsumoto N. Hamanaka K, et al. Hum Mol Genet. 2019 Jul 15;28(14):2319-2329. doi: 10.1093/hmg/ddz066. Hum Mol Genet. 2019. PMID: 30985895
Reanalysis of public chromatin immunoprecipitation sequencing data for rat Myrf showed that genes regulating proliferation and migration were enriched among putative target genes of Myrf. These results suggested that MYRF is a novel causative gene of 46,XY an …
Reanalysis of public chromatin immunoprecipitation sequencing data for rat Myrf showed that genes regulating proliferation and migrat …
153 results