Associated Papers
Persistent Leukoencephalopathy Following H1N1 Infection Associated With a Novel MYRF Variant (p.Gly735Asp).
Hu J et al.
Annals of Clinical and Translational Neurology, 2025
Fetal Presentation of MYRF-Related Cardiac Urogenital Syndrome: An Emerging and Challenging Prenatal Diagnosis.
Favier M et al.
Prenatal Diagnosis, 2024
MYRF-related mild encephalopathy with reversible myelin vacuolization: a case report and literature review.
Yao S et al.
Frontiers in Genetics, 2023
Clinical study of recurrent mild encephalitis/encephalopathy with a reversible splenial lesion in two cases.
Xue J et al.
Bmc Pediatrics, 2022
Case report: Mild encephalitis with a reversible splenial lesion associated with SARS-CoV-2 infection in a patient with MYRF variant.
Saito M et al.
Frontiers in Pediatrics, 2022
Case Report: De novo variant in myelin regulatory factor in a Chinese child with 46,XY disorder/difference of sex development, cardiac and urogenital anomalies, and short stature.
Wang H et al.
Frontiers in Pediatrics, 2022
Crystal structure of the MyRF ICA domain with its upstream β-helical stalk reveals the molecular mechanisms underlying its trimerization and self-cleavage.
Wu P et al.
International Journal of Biological Sciences, 2021
Novel truncation mutations in MYRF cause autosomal dominant high hyperopia mapped to 11p12-q13.3.
Xiao X et al.
Human Genetics, 2019
MYRF haploinsufficiency causes 46,XY and 46,XX disorders of sex development: bioinformatics consideration.
Hamanaka K et al.
Human Molecular Genetics, 2019
Review of the phenotypic spectrum associated with haploinsufficiency of MYRF.
Rossetti LZ et al.
American Journal of Medical Genetics. Part A, 2019
De novo variants in congenital diaphragmatic hernia identify MYRF as a new syndrome and reveal genetic overlaps with other developmental disorders.
Qi H et al.
Plos Genetics, 2018
MYRF is associated with encephalopathy with reversible myelin vacuolization.
Kurahashi H et al.
Annals of Neurology, 2018
Functional mechanisms of MYRF DNA-binding domain mutations implicated in birth defects.
Fan C et al.
The Journal of Biological Chemistry, 0
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