An uncommon presentation of WAGR syndrome with persistent fetal vasculature
Aniridia is an autosomal dominant congenital malformation associated with mutations in the PAX6 gene. It can be associated with deletion in the contiguous WT1 gene, leading to WAGR syndrome, characterized by Wilm tumor, aniridia, genitourinary anomalies, and mental retardation. Persistent fetal vasculature is a developmental malformation caused by incomplete regression of hyaloid vasculature. Most cases of persistent fetal vasculature occur sporadically; however, some inherited forms are described. (Source: Journal of AAPOS)
Source: Journal of AAPOS - September 22, 2023 Category: Opthalmology Authors: Athira Devaraj, Shashikant Shetty, Nisheeta Patnaik, Haemoglobin Parida, Sneha Pandurangan Tags: Short Report Source Type: research
Identification of the expression patterns and potential prognostic role of m6A-RNA methylation regulators in Wilms Tumor
To explore the potential role of m6A methylation modification in Wilms Tumor (WT) by m6A-RNA Methylation (m6A) regulators. (Source: BMC Medical Genomics)
Source: BMC Medical Genomics - September 21, 2023 Category: Genetics & Stem Cells Authors: Changlin Jia, Hongjie Gao, Wenyue Ma, Xiaoya Liu, Mengmeng Chang and Fengyin Sun Tags: Research Source Type: research
Elucidation of binding mechanism, affinity, and complex structure between mWT1 tumor ‐associated antigen peptide and HLA‐A*24:02
AbstractWe have applied our advanced computational and experimental methodologies to investigate the complex structure and binding mechanism of a modified Wilms' Tumor 1 (mWT1) protein epitope to the understudied Asian-dominant allele HLA-A*24:02 (HLA-A24) in aqueous solution. We have applied our developed multicanonical molecular dynamics (McMD)-based dynamic docking method to analyze the binding pathway and mechanism, which we verified by comparing the highest probability structures from simulation with our experimentally solved x-ray crystal structure. Subsequent path sampling MD simulations elucidated the atomic detail...
Source: Protein Science - September 20, 2023 Category: Biochemistry Authors: Gert ‐Jan Bekker,
Nobutaka Numoto,
Maki Kawasaki,
Takahiro Hayashi,
Saaya Yabuno,
Yuko Kozono,
Takeyuki Shimizu,
Haruo Kozono,
Nobutoshi Ito,
Masayuki Oda,
Narutoshi Kamiya Tags: RESEARCH ARTICLE Source Type: research
