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References from Scalp–ear–nipple syndrome: a clinical and pathogenetic review using novel artificial intelligence methodology. Local targets link to admitted publications; unresolved targets remain external evidence.
An hereditary syndrome of lumpy scalp, odd ears and rudimentary nipples
10.1111/j.1365-2133.1978.tb06182.x · 1978 · External reference
Mutations in KCTD1 cause scalp-ear-nipple syndrome
10.1016/j.ajhg.2013.03.002 · 2013 · External reference
Scalp-ear-nipple syndrome: first report of a potassium channel tetramerization domain-containing 1 in-frame insertion and review of the literature
10.1097/mcd.0000000000000387 · 2021 · 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
A novel mutation in the BTB domain impairs transcriptional repression function of KCTD1 leading to syndromic microtia
10.1016/j.gene.2024.149012 · 2025 · External reference
Scalp-ear-nipple syndrome: additional manifestations
10.1002/ajmg.1320500307 · 1994 · External reference
Scalp defect, absence of nipples, ear anomalies, renal hypoplasia: another case of Finlay–Marks syndrome
10.1111/j.1399-0004.1997.tb02553.x · 1997 · External reference
Characterization and expression of a human KCTD1 gene containing the BTB domain, which mediates transcriptional repression and homomeric interactions
10.1089/dna.2007.0662 · 2008 · External reference
The interaction of KCTD1 with transcription factor AP-2α 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
KCTD1 suppresses canonical Wnt signaling pathway by enhancing β-catenin degradation
2014 · External reference
Retraction: KCTD1 suppresses canonical Wnt signaling pathway by enhancing β-catenin degradation
2022 · External reference
KCTD1/KCTD15 complexes control ectodermal and neural crest cell functions, and their impairment causes aplasia cutis
2023 · 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
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
Pathogenic variants in KCTD1 disrupt cAMP signaling and cellular communication associated with developmental pathways
10.1016/j.jbc.2025.110813 · 2025 · External reference
KCTD1 is a new modulator of the KCASH family of Hedgehog suppressors
10.1016/j.neo.2023.100926 · 2023 · External reference
Finlay–Marks syndrome: report of two siblings and review of literature
10.1002/ajmg.a.35389 · 2012 · External reference
Aplasia cutis congenita: a clinical review and proposal for classification
10.1016/s0190-9622(86)70082-0 · 1986 · External reference
Genetic variants in KCTD1 are associated with isolated dental anomalies
10.3390/ijms25105179 · 2024 · 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
Loss-of-function, gain-of-function and dominant-negative mutations have profoundly different effects on protein structure
10.1038/s41467-022-31686-6 · 2022 · External reference
The KCTD family of proteins: structure, function, disease relevance
10.1186/2045-3701-3-45 · 2013 · External reference
KCTD1: a novel modulator of adipogenesis through the interaction with the transcription factor AP2α
2019 · External reference
BTB domain mutations perturbing KCTD15 oligomerisation cause a distinctive frontonasal dysplasia syndrome
10.1136/jmg-2023-109531 · 2024 · External reference
Cullin 3 recognition is not a universal property among KCTD proteins
10.1371/journal.pone.0126808 · 2015 · External reference
Structural insights into KCTD protein assembly and Cullin3 recognition
10.1016/j.jmb.2015.08.019 · 2016 · 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
The oncosuppressive properties of KCTD1: its role in cell growth and mobility
2023 · External reference
AP-2β/KCTD1 control distal nephron differentiation and protect against renal fibrosis
10.1016/j.devcel.2020.05.026 · 2020 · External reference
Kctd15 inhibits neural crest formation by attenuating Wnt/β-catenin signaling output
10.1242/dev.047548 · 2010 · External reference
Canonical WNT signaling promotes mammary placode development and is essential for initiation of mammary gland morphogenesis
10.1242/dev.01347 · 2004 · External reference
WNT signals are required for the initiation of hair follicle development
10.1016/s1534-5807(02)00167-3 · 2002 · External reference
Craniofacial development: neural crest in molecular embryology
10.1007/s12105-021-01301-z · 2021 · External reference
KCTD1 regulation of adenylyl cyclase type 5 adjusts striatal cAMP signalling
10.1073/pnas.2406686121 · 2024 · External reference
Aplasia cutis congenita pathomechanisms reveal key regulators of skin and skin appendage morphogenesis
10.1016/j.jid.2024.05.014 · 2024 · External reference
Standardized, systemic phenotypic analysis reveals kidney dysfunction as main alteration of Kctd1I27N mutant mice
10.1186/s12929-017-0365-5 · 2017 · External reference
