| Two sisters with cardiac-urogenital syndrome secondary to pathogenic splicing variant in the MYRF gene with unaffected parents: A case of gonadal mosaicism? | Two sisters with cardiac-urogenital syndrome secondary to pathogenic splicing variant in the MYRF gene with unaffected parents: A case of gonadal mosaicism?
Slaba K, Jezova M, Pokorna P, Palova H, Tuckova J, Papez J, Prochazkova D, Jabandziev P, Slaby O., Free PMC Article | 05/18/2023 |
| Truncation mutations in MYRF underlie primary angle closure glaucoma. | 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. | 01/21/2023 |
| Evaluation of MYRF as a candidate gene for primary angle closure glaucoma. | Evaluation of MYRF as a candidate gene for primary angle closure glaucoma.
Yu X, Sun N, Guo C, Zhao Z, Ye M, Zhang J, Ge J, Fan Z., Free PMC Article | 05/7/2022 |
| Functional mechanisms of MYRF DNA-binding domain mutations implicated in birth defects. | Functional mechanisms of MYRF DNA-binding domain mutations implicated in birth defects.
Fan C, An H, Sharif M, Kim D, Park Y., Free PMC Article | 10/16/2021 |
| MYRF: A Mysterious Membrane-Bound Transcription Factor Involved in Myelin Development and Human Diseases. | MYRF: A Mysterious Membrane-Bound Transcription Factor Involved in Myelin Development and Human Diseases.
Huang H, Zhou F, Zhou S, Qiu M., Free PMC Article | 09/25/2021 |
| Common Myelin Regulatory Factor Gene Variants Predisposing to Excellence in Sports. | Common Myelin Regulatory Factor Gene Variants Predisposing to Excellence in Sports.
Pepłońska B, Piestrzynska-Kajtoch A, Humińska-Lisowska K, Adamczyk JG, Siewierski M, Gurgul A, Fornal A, Michałowska-Sawczyn M, Żekanowski C, Cięszczyk P, Berdyński M., Free PMC Article | 07/24/2021 |
| The genetic and clinical landscape of nanophthalmos and posterior microphthalmos in an Australian cohort. | The genetic and clinical landscape of nanophthalmos and posterior microphthalmos in an Australian cohort.
Siggs OM, Awadalla MS, Souzeau E, Staffieri SE, Kearns LS, Laurie K, Kuot A, Qassim A, Edwards TL, Coote MA, Mancel E, Walland MJ, Dondey J, Galanopoulous A, Casson RJ, Mills RA, MacArthur DG, Ruddle JB, Burdon KP, Craig JE., Free PMC Article | 06/12/2021 |
| Pancreatic Cancer Cells Require the Transcription Factor MYRF to Maintain ER Homeostasis. | Pancreatic Cancer Cells Require the Transcription Factor MYRF to Maintain ER Homeostasis.
Milan M, Balestrieri C, Alfarano G, Polletti S, Prosperini E, Nicoli P, Spaggiari P, Zerbi A, Cirulli V, Diaferia GR, Natoli G. | 03/13/2021 |
| Functional mechanism and pathogenic potential of MYRF ICA domain mutations implicated in birth defects. | Functional mechanism and pathogenic potential of MYRF ICA domain mutations implicated in birth defects.
An H, Fan C, Sharif M, Kim D, Poitelon Y, Park Y., Free PMC Article | 12/12/2020 |
| results underline the importance of including SLC18A3 sequencing in the differential diagnostics of fetuses with arthrogryposis, FADS, or LMPS of unknown etiology | 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., Free PMC Article | 07/11/2020 |
| C-terminal variants in MYRF, which are expected to escape nonsense-mediated decay, represent a rare cause of autosomal dominant nanophthalmos with or without dextrocardia or congenital diaphragmatic hernia. | Autosomal dominant nanophthalmos and high hyperopia associated with a C-terminal frameshift variant in MYRF.
Siggs OM, Souzeau E, Breen J, Qassim A, Zhou T, Dubowsky A, Ruddle JB, Craig JE., Free PMC Article | 04/25/2020 |
| The results suggest that MYRF is a novel causative gene of 46,XY and 46,XX disorders of sex development and MYRF is a transcription factor regulating coelomic epithelium and/or coelomic epithelium derived cells proliferation and migration, which is essential for development of multiple organs. | 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. | 03/14/2020 |
| This is the first trio-based whole-genome sequencing (WGS), study for nanophthalmos, revealing the potential role of de novo mutations (DNMs) in MYRF and rare inherited genetic variants in PRSS56 and MFRP. | Detection of Clinically Relevant Genetic Variants in Chinese Patients With Nanophthalmos by Trio-Based Whole-Genome Sequencing Study.
Guo C, Zhao Z, Chen D, He S, Sun N, Li Z, Liu J, Zhang D, Zhang J, Li J, Zhang M, Ge J, Liu X, Zhang X, Fan Z. | 12/14/2019 |
| Identified a canonical splice site alteration upstream of the last exon of the gene encoding myelin regulatory factor (MYRF c.3376-1G>A), which produced a stable RNA transcript, leading to a frameshift mutation p.Gly1126Valfs*31 in the C-terminus of the protein. | Variants in myelin regulatory factor (MYRF) cause autosomal dominant and syndromic nanophthalmos in humans and retinal degeneration in mice.
Garnai SJ, Brinkmeier ML, Emery B, Aleman TS, Pyle LC, Veleva-Rotse B, Sisk RA, Rozsa FW, Ozel AB, Li JZ, Moroi SE, Archer SM, Lin CM, Sheskey S, Wiinikka-Buesser L, Eadie J, Urquhart JE, Black GCM, Othman MI, Boehnke M, Sullivan SA, Skuta GL, Pawar HS, Katz AE, Huryn LA, Hufnagel RB, Genomic Ascertainment Cohort, Camper SA, Richards JE, Prasov L., Free PMC Article | 11/30/2019 |
| These evidence all support that truncation mutations in the C-terminal region of MYRF are responsible for autosomal dominant high hyperopia in these families. | Novel truncation mutations in MYRF cause autosomal dominant high hyperopia mapped to 11p12-q13.3.
Xiao X, Sun W, Ouyang J, Li S, Jia X, Tan Z, Hejtmancik JF, Zhang Q., Free PMC Article | 10/5/2019 |
| We identified four unrelated individuals with congenital diaphragmatic hernia with damaging de novo variants in MYRF (P = 5.3x10(-8)), including one likely gene-disrupting (LGD) and three deleterious missense (D-mis) variants. Eight additional individuals with de novo LGD or missense variants were identified from our other genetic studies or from the literature. | De novo variants in congenital diaphragmatic hernia identify MYRF as a new syndrome and reveal genetic overlaps with other developmental disorders.
Qi H, Yu L, Zhou X, Wynn J, Zhao H, Guo Y, Zhu N, Kitaygorodsky A, Hernan R, Aspelund G, Lim FY, Crombleholme T, Cusick R, Azarow K, Danko ME, Chung D, Warner BW, Mychaliska GB, Potoka D, Wagner AJ, ElFiky M, Wilson JM, Nickerson D, Bamshad M, High FA, Longoni M, Donahoe PK, Chung WK, Shen Y., Free PMC Article | 03/9/2019 |
| Heterozygous variants in MYRF should be considered in patients with variants of Scimitar syndrome and urogenital anomalies. | De novo variants in Myelin regulatory factor (MYRF) as candidates of a new syndrome of cardiac and urogenital anomalies.
Pinz H, Pyle LC, Li D, Izumi K, Skraban C, Tarpinian J, Braddock SR, Telegrafi A, Monaghan KG, Zackai E, Bhoj EJ., Free PMC Article | 03/2/2019 |
| Functional defects of MYRF are likely to be causally associated with encephalopathy with extensive myelin vacuolization | MYRF is associated with encephalopathy with reversible myelin vacuolization.
Kurahashi H, Azuma Y, Masuda A, Okuno T, Nakahara E, Imamura T, Saitoh M, Mizuguchi M, Shimizu T, Ohno K, Okumura A. | 01/26/2019 |
| The relative scarcity of oligodendrocyte lineage cells expressing MYRF in demyelinated MS lesions demonstrates, for the first time, that chronic lesions lack oligodendrocytes that express this necessary transcription factor for remyelination and supports the notion that a failure to fully differentiate underlies remyelination failure. | Myelin regulatory factor drives remyelination in multiple sclerosis.
Duncan GJ, Plemel JR, Assinck P, Manesh SB, Muir FGW, Hirata R, Berson M, Liu J, Wegner M, Emery B, Moore GRW, Tetzlaff W. | 02/10/2018 |
| molecular mechanisms underlying the homo-trimerization of Myrf N-terminal fragments and the homo-trimeric DNA binding of Myrf N-terminal fragments | Homo-trimerization is essential for the transcription factor function of Myrf for oligodendrocyte differentiation.
Kim D, Choi JO, Fan C, Shearer RS, Sharif M, Busch P, Park Y., Free PMC Article | 09/2/2017 |
| A Bacteriophage tailspike domain promotes self-cleavage of a human membrane-bound transcription factor, the myelin regulatory factor MYRF. | A Bacteriophage tailspike domain promotes self-cleavage of a human membrane-bound transcription factor, the myelin regulatory factor MYRF.
Li Z, Park Y, Marcotte EM., Free PMC Article | 03/8/2014 |
| Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator) | Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
Bailey SD, Xie C, Do R, Montpetit A, Diaz R, Mohan V, Keavney B, Yusuf S, Gerstein HC, Engert JC, Anand S, DREAM investigators., Free PMC Article | 09/15/2010 |
| Observational study of gene-disease association. (HuGE Navigator) | Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.
Talmud PJ, Drenos F, Shah S, Shah T, Palmen J, Verzilli C, Gaunt TR, Pallas J, Lovering R, Li K, Casas JP, Sofat R, Kumari M, Rodriguez S, Johnson T, Newhouse SJ, Dominiczak A, Samani NJ, Caulfield M, Sever P, Stanton A, Shields DC, Padmanabhan S, Melander O, Hastie C, Delles C, Ebrahim S, Marmot MG, Smith GD, Lawlor DA, Munroe PB, Day IN, Kivimaki M, Whittaker J, Humphries SE, Hingorani AD, ASCOT investigators, NORDIL investigators, BRIGHT Consortium., Free PMC Article | 09/15/2010 |