Associated Papers
Functional Validation of Noncoding Variants Associated With Nonsyndromic Orofacial Cleft.
Zhu S et al.
Human Mutation, 2025
40918684 (PubMed )
Supplement: 6824122.f3.xlsx › Table_S3
Investigating gene functions and single-cell expression profiles of de novo variants in orofacial clefts.
Itai T et al.
Hgg Advances, 2024
38807368 (PubMed )
Supplement: mmc2.xlsx › Table_S3
Engineering of a high-fidelity Cas12a nuclease variant capable of allele-specific editing.
Wei J et al.
Plos Biology, 2024
38865309 (PubMed )
Supplement: pbio.3002680.s016.xlsx › ClinVar
Prioritization of non-coding elements involved in non-syndromic cleft lip with/without cleft palate through genome-wide analysis of de novo mutations.
Zieger HK et al.
Hgg Advances, 2023
36589413 (PubMed )
Supplement: mmc2.xlsx › Table_S15
The Role of the Disrupted Podosome Adaptor Protein (SH3PXD2B) in Frank-Ter Haar Syndrome.
Massadeh S et al.
Genes, 2022
Novel SH3PXD2B variant identified by whole-exome sequencing in a Turkish newborn with Frank-Ter Haar Syndrome.
Türkyilmaz A et al.
Clinical Dysmorphology, 2022
Accumulation of the PX domain mutant Frank-ter Haar syndrome protein Tks4 in aggresomes.
Ádám C et al.
Cell Communication and Signaling : Ccs, 2015
Frank-ter Haar syndrome protein Tks4 regulates epidermal growth factor-dependent cell migration.
Bögel G et al.
The Journal of Biological Chemistry, 2012
Disruption of the podosome adaptor protein TKS4 (SH3PXD2B) causes the skeletal dysplasia, eye, and cardiac abnormalities of Frank-Ter Haar Syndrome.
Iqbal Z et al.
American Journal of Human Genetics, 2010
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