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References from KCTD1 p.Gly62Asp Variant in Scalp-Ear-Nipple Syndrome: Phenotypic and Structural Insights. Local targets link to admitted publications; unresolved targets remain external evidence.
Scalp-ear-nipple syndrome: additional manifestations
10.1002/ajmg.1320500307 · 1994 · External reference
Mutations in KCTD1 cause scalp-ear-nipple syndrome
10.1016/j.ajhg.2013.03.002 · 2013 · External reference
The interaction of KCTD1 with transcription factor AP-2alpha inhibits its transactivation
10.1002/jcb.22002 · 2009 · External reference
KCTD1/KCTD15-mediated repression of AP-2α/AP-2β is required for proper skin appendage development and epidermal homeostasis
10.1016/j.jid.2025.09.371 · 2026 · External reference
AP-2β/KCTD1 control distal nephron differentiation and protect against renal fibrosis
10.1016/j.devcel.2020.05.026 · 2020 · External reference
Scalp-ear-nipple (Finlay-Marks) syndrome: a familial case with renal involvement
10.1034/j.1399-0004.1999.560216.x · 1999 · External reference
SMART v10: three decades of the protein domain annotation resource
10.1093/nar/gkaf1023 · 2025 · External reference
IBS 2.0: an upgraded illustrator for the visualization of biological sequences
10.1093/nar/gkac373 · 2022 · External reference
Predicting functional effect of human missense mutations using PolyPhen-2
2013 · External reference
Accurate structure prediction of biomolecular interactions with AlphaFold 3
10.1038/s41586-024-07487-w · 2024 · External reference
DynaMut2: assessing changes in stability and flexibility upon single and multiple point missense mutations
10.1002/pro.3942 · 2021 · External reference
Molecular basis of the scalp-ear-nipple syndrome unraveled by the characterization of disease-causing KCTD1 mutants
10.1038/s41598-019-46911-4 · 2019 · External reference
A BTB extension and ion-binding domain contribute to the pentameric structure and TFAP2A binding of KCTD1
10.1016/j.str.2024.07.023 · 2024 · External reference
KCTD1 mutants in scalp-ear-nipple syndrome and AP-2α P59A in Char syndrome reciprocally abrogate their interactions, but can regulate Wnt/β-catenin signaling
2020 · External reference
Structural studies of KCTD1 and its disease-causing mutant P20S provide insights into the protein function and misfunction
10.1016/j.ijbiomac.2024.134390 · 2024 · External reference
KCTD1 and Scalp-Ear-Nipple (‘Finlay-Marks’) syndrome may be associated with myopia and Thin basement membrane nephropathy through an effect on the collagen IV α3 and α4 chains
10.1080/13816810.2022.2144900 · 2023 · External reference
