Associated Papers
Trichohepatoenteric syndrome and cytomegalovirus infection: Case report and literature summary.
Zhu Y et al.
Sage Open Medical Case Reports, 2024
Genetic causes of isolated and severe fetal growth restriction in normal chromosomal microarray analysis.
Zhou H et al.
International Journal of Gynaecology and Obstetrics: the Official Organ of the International Federation of Gynaecology and Obstetrics, 2023
A yeast model for trichohepatoenteric syndrome suggests strong loss of Ski2 function in most causative mutations.
Orlando LJ et al.
Micropublication Biology, 2022
Case Report: Novel Compound-Heterozygous Variants of SKIV2L Gene that Cause Trichohepatoenteric Syndrome 2.
Zhang Q et al.
Frontiers in Genetics, 2021
An RNA Metabolism and Surveillance Quartet in the Major Histocompatibility Complex.
Zhou D et al.
Cells, 2019
Tricho-Hepato-Enteric Syndrome mutation update: Mutations spectrum of TTC37 and SKIV2L, clinical analysis and future prospects.
Bourgeois P et al.
Human Mutation, 2018
Genetic and Structural Analysis of a SKIV2L Mutation Causing Tricho-hepato-enteric Syndrome.
Vardi I et al.
Digestive Diseases and Sciences, 2018
The RNA exosome and RNA exosome-linked disease.
Morton DJ et al.
Rna (new York, N.y.), 2018
Trichohepatoenteric syndrome: A rare mutation in SKIV2L gene in the first Balkan reported case.
Xinias I et al.
Sage Open Medical Case Reports, 2018
Targeted next-generation sequencing identification of a novel missense mutation of the SKIV2L gene in a patient with trichohepatoenteric syndrome.
Zheng B et al.
Molecular Medicine Reports, 2016
Novel mutations in SKIV2L and TTC37 genes in Malaysian children with trichohepatoenteric syndrome.
Lee WS et al.
Gene, 2016
SKI complex: A multifaceted cytoplasmic RNA exosome cofactor in mRNA metabolism with links to disease, developmental processes, and antiviral responses.
Tomecki R et al.
Wiley Interdisciplinary Reviews. Rna, 0
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