Associated Papers
In silico characterization and identification of compound heterozygous variants in H/ACA Ribonucleoprotein Assembly Factor (SHQ1) from Indian population.
Gowda VK et al.
Journal of Family Medicine and Primary Care, 2024
Biallelic SHQ1 variants in early infantile hypotonia and paroxysmal dystonia as the leading manifestation.
Chi CS et al.
Human Genetics, 2023
SHQ1-associated neurodevelopmental disorder: Report of the first homozygous variant in unrelated patients and review of the literature.
AlHargan A et al.
Human Genome Variation, 2023
Human SHQ1 variants R335C and A426V lead to severe ribosome biogenesis defects when expressed in yeast.
Alidou-D'Anjou I et al.
Frontiers in Genetics, 2023
Compound heterozygous variants in SHQ1 are associated with a spectrum of neurological features, including early-onset dystonia.
Sleiman S et al.
Human Molecular Genetics, 2022
Inherited SHQ1 mutations impair interaction with NAP57/dyskerin, a major target in dyskeratosis congenita.
Bizarro J et al.
Molecular Genetics & Genomic Medicine, 2017
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