Associated Papers
Clinical applications of and molecular insights from RNA sequencing in a rare disease cohort.
Stark JC et al.
Genome Medicine, 2025
A primary microcephaly-associated sas-6 mutation perturbs centrosome duplication, dendrite morphogenesis, and ciliogenesis in Caenorhabditis elegans.
Bergwell M et al.
Genetics, 2023
Case Report: Prenatal Recurrent Microcephaly and Corpus Callosum Abnormalities in a Chinese Family with Novel Biallelic SASS6 Mutations.
Wah YMI et al.
Fetal Diagnosis and Therapy, 2023
E2F4's cytoplasmic role in multiciliogenesis is mediated via an N-terminal domain that binds two components of the centriole replication machinery, Deup1 and SAS6.
Hazan R et al.
Molecular Biology of the Cell, 2021
CCDC84 Acetylation Oscillation Regulates Centrosome Duplication by Modulating HsSAS-6 Degradation.
Wang T et al.
Cell Reports, 2019
Novel SASS6 compound heterozygous mutations in a Chinese family with primary autosomal recessive microcephaly.
Zhang Y et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2019
A missense mutation in the PISA domain of HsSAS-6 causes autosomal recessive primary microcephaly in a large consanguineous Pakistani family.
Khan MA et al.
Human Molecular Genetics, 2014
Select a paper to view details