Associated Papers
Regulation of canonical Wnt signalling by the ciliopathy protein MKS1 and the E2 ubiquitin-conjugating enzyme UBE2E1.
Szymanska K et al.
Elife, 2022
Meckel-Gruber Syndrome: An Update on Diagnosis, Clinical Management, and Research Advances.
Hartill V et al.
Frontiers in Pediatrics, 2017
Clinical utility gene card for: Meckel syndrome.
Salonen R et al.
European Journal of Human Genetics : Ejhg, 2011
Molecular genetics and pathogenic mechanisms for the severe ciliopathies: insights into neurodevelopment and pathogenesis of neural tube defects.
Logan CV et al.
Molecular Neurobiology, 2011
Mutation spectrum of Meckel syndrome genes: one group of syndromes or several distinct groups?
Tallila J et al.
Human Mutation, 2009
Molecular diagnostics of Meckel-Gruber syndrome highlights phenotypic differences between MKS1 and MKS3.
Consugar MB et al.
Human Genetics, 2007
Aberrant splicing is a common mutational mechanism in MKS1, a key player in Meckel-Gruber syndrome.
Frank V et al.
Human Mutation, 2007
Spectrum of MKS1 and MKS3 mutations in Meckel syndrome: a genotype-phenotype correlation. Mutation in brief #960. Online.
Khaddour R et al.
Human Mutation, 2007
MKS1, encoding a component of the flagellar apparatus basal body proteome, is mutated in Meckel syndrome.
Kyttälä M et al.
Nature Genetics, 2006
Select a paper to view details