BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

313 related articles for article (PubMed ID: 33000225)

  • 1. 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.
    Hu L; Chen L; Yang L; Ye Z; Huang W; Li X; Liu Q; Qiu J; Ding X
    Mol Med Rep; 2020 Nov; 22(5):3895-3903. PubMed ID: 33000225
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Molecular basis of the scalp-ear-nipple syndrome unraveled by the characterization of disease-causing KCTD1 mutants.
    Smaldone G; Balasco N; Pirone L; Caruso D; Di Gaetano S; Pedone EM; Vitagliano L
    Sci Rep; 2019 Jul; 9(1):10519. PubMed ID: 31324836
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Mutations in KCTD1 cause scalp-ear-nipple syndrome.
    Marneros AG; Beck AE; Turner EH; McMillin MJ; Edwards MJ; Field M; de Macena Sobreira NL; Perez AB; Fortes JA; Lampe AK; Giovannucci Uzielli ML; Gordon CT; Plessis G; Le Merrer M; Amiel J; Reichenberger E; Shively KM; Cerrato F; Labow BI; Tabor HK; Smith JD; Shendure J; Nickerson DA; Bamshad MJ;
    Am J Hum Genet; 2013 Apr; 92(4):621-6. PubMed ID: 23541344
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Scalp-Ear-Nipple syndrome: first report of a Potassium channel tetramerization domain-containing 1 in-frame insertion and review of the literature.
    Butler KM; Bahrambeigi V; Merrihew A; Friez MJ; Cathey SS
    Clin Dysmorphol; 2021 Oct; 30(4):167-172. PubMed ID: 34456244
    [TBL] [Abstract][Full Text] [Related]  

  • 5. KCTD1: A novel modulator of adipogenesis through the interaction with the transcription factor AP2α.
    Pirone L; Smaldone G; Spinelli R; Barberisi M; Beguinot F; Vitagliano L; Miele C; Di Gaetano S; Raciti GA; Pedone E
    Biochim Biophys Acta Mol Cell Biol Lipids; 2019 Dec; 1864(12):158514. PubMed ID: 31465887
    [TBL] [Abstract][Full Text] [Related]  

  • 6. KCTD1 suppresses canonical Wnt signaling pathway by enhancing β-catenin degradation.
    Li X; Chen C; Wang F; Huang W; Liang Z; Xiao Y; Wei K; Wan Z; Hu X; Xiang S; Ding X; Zhang J
    PLoS One; 2014; 9(4):e94343. PubMed ID: 24736394
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Char Syndrome a novel mutation and new insights: A clinical report.
    Massaad E; Tfayli H; Awwad J; Nabulsi M; Farra C
    Eur J Med Genet; 2019 Dec; 62(12):103607. PubMed ID: 30579973
    [TBL] [Abstract][Full Text] [Related]  

  • 8. The interaction of KCTD1 with transcription factor AP-2alpha inhibits its transactivation.
    Ding X; Luo C; Zhou J; Zhong Y; Hu X; Zhou F; Ren K; Gan L; He A; Zhu J; Gao X; Zhang J
    J Cell Biochem; 2009 Feb; 106(2):285-95. PubMed ID: 19115315
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Transcription factor AP-2beta in development, differentiation and tumorigenesis.
    Raap M; Gierendt L; Kreipe HH; Christgen M
    Int J Cancer; 2021 Sep; 149(6):1221-1227. PubMed ID: 33720400
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Char syndrome, a familial form of patent ductus arteriosus, with a new finding: hypoplasia [corrected] of the 3rd finger.
    Babaoğlu K; Oruç M; Günlemez A; Gelb BD
    Anadolu Kardiyol Derg; 2012 Sep; 12(6):523-4. PubMed ID: 22728731
    [No Abstract]   [Full Text] [Related]  

  • 11. [Construction of a luciferase reporter vector containing response element of activator protein 2α and its application in study of osteogenetic differentiation].
    Gong M; Zhou J; Bi Y
    Nan Fang Yi Ke Da Xue Xue Bao; 2013 Nov; 33(11):1571-6. PubMed ID: 24273255
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Novel TFAP2B mutations that cause Char syndrome provide a genotype-phenotype correlation.
    Zhao F; Weismann CG; Satoda M; Pierpont ME; Sweeney E; Thompson EM; Gelb BD
    Am J Hum Genet; 2001 Oct; 69(4):695-703. PubMed ID: 11505339
    [TBL] [Abstract][Full Text] [Related]  

  • 13. A novel missense mutation in TFAP2B associated with Char syndrome and central diabetes insipidus.
    Edward HL; D'Gama AM; Wojcik MH; Brownstein CA; Kenna MA; Grant PE; Majzoub JA; Agrawal PB
    Am J Med Genet A; 2019 Jul; 179(7):1299-1303. PubMed ID: 31012281
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Characterization and expression of a human KCTD1 gene containing the BTB domain, which mediates transcriptional repression and homomeric interactions.
    Ding XF; Luo C; Ren KQ; Zhang J; Zhou JL; Hu X; Liu RS; Wang Y; Gao X; Zhang J
    DNA Cell Biol; 2008 May; 27(5):257-65. PubMed ID: 18358072
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Standardized, systemic phenotypic analysis reveals kidney dysfunction as main alteration of Kctd1
    Kumar S; Rathkolb B; Sabrautzki S; Krebs S; Kemter E; Becker L; Beckers J; Bekeredjian R; Brommage R; Calzada-Wack J; Garrett L; Hölter SM; Horsch M; Klingenspor M; Klopstock T; Moreth K; Neff F; Rozman J; Fuchs H; Gailus-Durner V; Hrabe de Angelis M; Wolf E; Aigner B
    J Biomed Sci; 2017 Aug; 24(1):57. PubMed ID: 28818080
    [TBL] [Abstract][Full Text] [Related]  

  • 16.
    Wang D; Trevillian P; May S; Diakumis P; Wang Y; Colville D; Bahlo M; Greferath U; Fletcher E; Young B; Mack HG; Savige J
    Ophthalmic Genet; 2023 Feb; 44(1):19-27. PubMed ID: 36579937
    [TBL] [Abstract][Full Text] [Related]  

  • 17. [Research progress of genetic research on Char syndrome].
    Zhao M; Fan L; Xiang R
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2024 Jun; 41(6):758-760. PubMed ID: 38818565
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Mutations in TFAP2B cause Char syndrome, a familial form of patent ductus arteriosus.
    Satoda M; Zhao F; Diaz GA; Burn J; Goodship J; Davidson HR; Pierpont ME; Gelb BD
    Nat Genet; 2000 May; 25(1):42-6. PubMed ID: 10802654
    [TBL] [Abstract][Full Text] [Related]  

  • 19. The AP-2 Transcription Factor APTF-2 Is Required for Neuroblast and Epidermal Morphogenesis in Caenorhabditis elegans Embryogenesis.
    Budirahardja Y; Tan PY; Doan T; Weisdepp P; Zaidel-Bar R
    PLoS Genet; 2016 May; 12(5):e1006048. PubMed ID: 27176626
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Genetic Variants in
    Ruangchan C; Ngamphiw C; Krasaesin A; Intarak N; Tongsima S; Kaewgahya M; Kawasaki K; Mahawong P; Paripurana K; Sookawat B; Jatooratthawichot P; Cox TC; Ohazama A; Ketudat Cairns JR; Porntaveetus T; Kantaputra P
    Int J Mol Sci; 2024 May; 25(10):. PubMed ID: 38791218
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 16.