Associated Papers
A Novel Biallelic STN1 Mutation Is Associated With Adult-Onset Multisystemic Involvement: Broadening the Mutational Spectrum in Coats Plus Syndrome.
Ozen F et al.
Clinical Genetics, 2025
Molecular Dynamic Simulation of Neurexin1α Mutations Associated with Mental Disorder.
Hendam A et al.
Journal of Molecular Neuroscience : Mn, 2022
Multisystemic Manifestations in Rare Diseases: The Experience of Dyskeratosis Congenita.
Callea M et al.
Genes, 2022
Novel compound heterozygous STN1 variants are associated with Coats Plus syndrome.
Acharya T et al.
Molecular Genetics & Genomic Medicine, 2021
An Indian child with Coats plus syndrome due to mutations in STN1.
Passi GR et al.
American Journal of Medical Genetics. Part A, 2020
Structural Features of Nucleoprotein CST/Shelterin Complex Involved in the Telomere Maintenance and Its Association with Disease Mutations.
Amir M et al.
Cells, 2020
Structural Analysis and Conformational Dynamics of STN1 Gene Mutations Involved in Coat Plus Syndrome.
Amir M et al.
Frontiers in Molecular Biosciences, 2019
STN1-POLA2 interaction provides a basis for primase-pol α stimulation by human STN1.
Ganduri S et al.
Nucleic Acids Research, 2017
Mutations in STN1 cause Coats plus syndrome and are associated with genomic and telomere defects.
Simon AJ et al.
The Journal of Experimental Medicine, 2016
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