BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

247 related articles for article (PubMed ID: 22412863)

  • 1. Deletion of Porcn in mice leads to multiple developmental defects and models human focal dermal hypoplasia (Goltz syndrome).
    Liu W; Shaver TM; Balasa A; Ljungberg MC; Wang X; Wen S; Nguyen H; Van den Veyver IB
    PLoS One; 2012; 7(3):e32331. PubMed ID: 22412863
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Deletion of mouse Porcn blocks Wnt ligand secretion and reveals an ectodermal etiology of human focal dermal hypoplasia/Goltz syndrome.
    Barrott JJ; Cash GM; Smith AP; Barrow JR; Murtaugh LC
    Proc Natl Acad Sci U S A; 2011 Aug; 108(31):12752-7. PubMed ID: 21768372
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Multiple requirements of the focal dermal hypoplasia gene porcupine during ocular morphogenesis.
    Bankhead EJ; Colasanto MP; Dyorich KM; Jamrich M; Murtaugh LC; Fuhrmann S
    Am J Pathol; 2015 Jan; 185(1):197-213. PubMed ID: 25451153
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Goltz-Gorlin (focal dermal hypoplasia) and the microphthalmia with linear skin defects (MLS) syndrome: no evidence of genetic overlap.
    Harmsen MB; Azzarello-Burri S; García González MM; Gillessen-Kaesbach G; Meinecke P; Müller D; Rauch A; Rossier E; Seemanova E; Spaich C; Steiner B; Wieczorek D; Zenker M; Kutsche K
    Eur J Hum Genet; 2009 Oct; 17(10):1207-15. PubMed ID: 19277062
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Zygotic Porcn paternal allele deletion in mice to model human focal dermal hypoplasia.
    Biechele S; Adissu HA; Cox BJ; Rossant J
    PLoS One; 2013; 8(11):e79139. PubMed ID: 24223895
    [TBL] [Abstract][Full Text] [Related]  

  • 6. A Novel PORCN Frameshift Mutation Leading to Focal Dermal Hypoplasia: A Case Report.
    Durmaz CD; McGrath J; Liu L; Karabulut HG
    Cytogenet Genome Res; 2018; 154(3):119-121. PubMed ID: 29525789
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Precise regulation of porcupine activity is required for physiological Wnt signaling.
    Proffitt KD; Virshup DM
    J Biol Chem; 2012 Oct; 287(41):34167-78. PubMed ID: 22888000
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Focal dermal hypoplasia without focal dermal hypoplasia.
    Contreras-Capetillo SN; Lombardi MP; Pinto-Escalante D; Hennekam RC
    Am J Med Genet A; 2014 Mar; 164A(3):778-81. PubMed ID: 24357603
    [TBL] [Abstract][Full Text] [Related]  

  • 9. PORCN gene mutations and the protean nature of focal dermal hypoplasia.
    Clements SE; Mellerio JE; Holden ST; McCauley J; McGrath JA
    Br J Dermatol; 2009 May; 160(5):1103-9. PubMed ID: 19292719
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Deficiency of PORCN, a regulator of Wnt signaling, is associated with focal dermal hypoplasia.
    Grzeschik KH; Bornholdt D; Oeffner F; König A; del Carmen Boente M; Enders H; Fritz B; Hertl M; Grasshoff U; Höfling K; Oji V; Paradisi M; Schuchardt C; Szalai Z; Tadini G; Traupe H; Happle R
    Nat Genet; 2007 Jul; 39(7):833-5. PubMed ID: 17546031
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Novel and recurrent PORCN gene mutations in almost unilateral and typical focal dermal hypoplasia patients.
    Nakanishi G; Hasegawa K; Oono T; Koshida S; Fujimoto N; Iwatsuki K; Tanaka H; Tanaka T
    Eur J Dermatol; 2013; 23(1):64-7. PubMed ID: 23399492
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Goltz syndrome and PORCN mosaicism.
    Stevenson DA; Chirpich M; Contreras Y; Hanson H; Dent K
    Int J Dermatol; 2014 Dec; 53(12):1481-4. PubMed ID: 25040319
    [TBL] [Abstract][Full Text] [Related]  

  • 13. A nonsense porcn mutation in severe focal dermal hypoplasia with natal teeth.
    Dias C; Basto J; Pinho O; Barbêdo C; Mártins M; Bornholdt D; Fortuna A; Grzeschik KH; Lima M
    Fetal Pediatr Pathol; 2010; 29(5):305-13. PubMed ID: 20704476
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Focal dermal hypoplasia in a male patient due to mosaicism for a novel PORCN single nucleotide deletion.
    Vreeburg M; van Geel M; van den Heuij LG; Steijlen PM; van Steensel MA
    J Eur Acad Dermatol Venereol; 2011 May; 25(5):592-5. PubMed ID: 20626533
    [TBL] [Abstract][Full Text] [Related]  

  • 15. PORCN mutations in focal dermal hypoplasia: coping with lethality.
    Bornholdt D; Oeffner F; König A; Happle R; Alanay Y; Ascherman J; Benke PJ; Boente Mdel C; van der Burgt I; Chassaing N; Ellis I; Francisco CR; Della Giovanna P; Hamel B; Has C; Heinelt K; Janecke A; Kastrup W; Loeys B; Lohrisch I; Marcelis C; Mehraein Y; Nicolas ME; Pagliarini D; Paradisi M; Patrizi A; Piccione M; Piza-Katzer H; Prager B; Prescott K; Strien J; Utine GE; Zeller MS; Grzeschik KH
    Hum Mutat; 2009 May; 30(5):E618-28. PubMed ID: 19309688
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Identification of key residues and regions important for porcupine-mediated Wnt acylation.
    Rios-Esteves J; Haugen B; Resh MD
    J Biol Chem; 2014 Jun; 289(24):17009-19. PubMed ID: 24798332
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Novel PORCN mutations in focal dermal hypoplasia.
    Froyen G; Govaerts K; Van Esch H; Verbeeck J; Tuomi ML; Heikkilä H; Torniainen S; Devriendt K; Fryns JP; Marynen P; Järvelä I; Ala-Mello S
    Clin Genet; 2009 Dec; 76(6):535-43. PubMed ID: 19863546
    [TBL] [Abstract][Full Text] [Related]  

  • 18. An
    Asciolla JJ; Miele MM; Hendrickson RC; Resh MD
    J Biol Chem; 2017 Aug; 292(33):13507-13513. PubMed ID: 28655768
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Implementation of high-resolution melting analysis of the porcupine (PORCN) gene for molecular diagnosis of focal dermal hypoplasia: Identification of a novel mutation.
    Martínez-Saucedo M; Ornelas-Fuentes C; Dedden M; Sánchez-Urbina R; Díaz-García H; Aquino-Jarquin G; Moreno-Salgado R; Granados-Riveron JT
    J Gene Med; 2020 May; 22(5):e3165. PubMed ID: 31984575
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Focal dermal hypoplasia (Goltz-Gorlin syndrome): a new case with a novel variant in the PORCN gene (c.1250T>C:p.F417S) and unusual spinal anomaly.
    Garavelli L; Simonte G; Rosato S; Wischmeijer A; Albertini E; Guareschi E; Longo C; Albertini G; Gelmini C; Greco C; Errico S; Savino G; Pavanello M; Happle R; Unger S; Superti-Furga A; Grzeschik KH
    Am J Med Genet A; 2013 Jul; 161A(7):1750-4. PubMed ID: 23696273
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 13.