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2. Search for genetic modifiers of IRF6 and genotype-phenotype correlations in Van der Woude and popliteal pterygium syndromes. Leslie EJ; Mancuso JL; Schutte BC; Cooper ME; Durda KM; L'Heureux J; Zucchero TM; Marazita ML; Murray JC Am J Med Genet A; 2013 Oct; 161A(10):2535-2544. PubMed ID: 23949966 [TBL] [Abstract][Full Text] [Related]
3. Novel Mutations in the IRF6 Gene on the Background of Known Polymorphisms in Polish Patients With Orofacial Clefting. Charzewska A; Obersztyn E; Hoffman-Zacharska D; Lenart J; Poznański J; Bal J Cleft Palate Craniofac J; 2015 Sep; 52(5):e161-7. PubMed ID: 25489771 [TBL] [Abstract][Full Text] [Related]
4. Van der Woude and Popliteal Pterygium Syndromes: Broad intrafamilial variability in a three generation family with mutation in IRF6. Busche A; Hehr U; Sieg P; Gillessen-Kaesbach G Am J Med Genet A; 2016 Sep; 170(9):2404-7. PubMed ID: 27286731 [TBL] [Abstract][Full Text] [Related]
5. Association and Mutation Analyses of the IRF6 Gene in Families With Nonsyndromic and Syndromic Cleft Lip and/or Cleft Palate. Pegelow M; Koillinen H; Magnusson M; Fransson I; Unneberg P; Kere J; Karsten A; Peyrard-Janvid M Cleft Palate Craniofac J; 2014 Jan; 51(1):49-55. PubMed ID: 23394314 [TBL] [Abstract][Full Text] [Related]
6. Comparative analysis of IRF6 variants in families with Van der Woude syndrome and popliteal pterygium syndrome using public whole-exome databases. Leslie EJ; Standley J; Compton J; Bale S; Schutte BC; Murray JC Genet Med; 2013 May; 15(5):338-44. PubMed ID: 23154523 [TBL] [Abstract][Full Text] [Related]
7. Toward an orofacial gene regulatory network. Kousa YA; Schutte BC Dev Dyn; 2016 Mar; 245(3):220-32. PubMed ID: 26332872 [TBL] [Abstract][Full Text] [Related]
8. The RIPK4-IRF6 signalling axis safeguards epidermal differentiation and barrier function. Oberbeck N; Pham VC; Webster JD; Reja R; Huang CS; Zhang Y; Roose-Girma M; Warming S; Li Q; Birnberg A; Wong W; Sandoval W; Kőműves LG; Yu K; Dugger DL; Maltzman A; Newton K; Dixit VM Nature; 2019 Oct; 574(7777):249-253. PubMed ID: 31578523 [TBL] [Abstract][Full Text] [Related]
9. A novel RIPK4-IRF6 connection is required to prevent epithelial fusions characteristic for popliteal pterygium syndromes. De Groote P; Tran HT; Fransen M; Tanghe G; Urwyler C; De Craene B; Leurs K; Gilbert B; Van Imschoot G; De Rycke R; Guérin CJ; Holland P; Berx G; Vandenabeele P; Lippens S; Vleminckx K; Declercq W Cell Death Differ; 2015 Jun; 22(6):1012-24. PubMed ID: 25430793 [TBL] [Abstract][Full Text] [Related]
10. Expanding the genetic and phenotypic spectrum of popliteal pterygium disorders. Leslie EJ; O'Sullivan J; Cunningham ML; Singh A; Goudy SL; Ababneh F; Alsubaie L; Ch'ng GS; van der Laar IM; Hoogeboom AJ; Dunnwald M; Kapoor S; Jiramongkolchai P; Standley J; Manak JR; Murray JC; Dixon MJ Am J Med Genet A; 2015 Mar; 167A(3):545-52. PubMed ID: 25691407 [TBL] [Abstract][Full Text] [Related]
11. IRF6 and SPRY4 Signaling Interact in Periderm Development. Kousa YA; Roushangar R; Patel N; Walter A; Marangoni P; Krumlauf R; Klein OD; Schutte BC J Dent Res; 2017 Oct; 96(11):1306-1313. PubMed ID: 28732181 [TBL] [Abstract][Full Text] [Related]
12. An etiologic regulatory mutation in IRF6 with loss- and gain-of-function effects. Fakhouri WD; Rahimov F; Attanasio C; Kouwenhoven EN; Ferreira De Lima RL; Felix TM; Nitschke L; Huver D; Barrons J; Kousa YA; Leslie E; Pennacchio LA; Van Bokhoven H; Visel A; Zhou H; Murray JC; Schutte BC Hum Mol Genet; 2014 May; 23(10):2711-20. PubMed ID: 24442519 [TBL] [Abstract][Full Text] [Related]
13. Van der Woude and Popliteal Pterygium Syndromes. Bennun RD; Stefano E; Moggi LE J Craniofac Surg; 2018 Sep; 29(6):1434-1436. PubMed ID: 29916977 [TBL] [Abstract][Full Text] [Related]
14. MCS9.7 enhancer activity is highly, but not completely, associated with expression of Irf6 and p63. Fakhouri WD; Rhea L; Du T; Sweezer E; Morrison H; Fitzpatrick D; Yang B; Dunnwald M; Schutte BC Dev Dyn; 2012 Feb; 241(2):340-9. PubMed ID: 22113860 [TBL] [Abstract][Full Text] [Related]
15. Non-random distribution of deleterious mutations in the DNA and protein-binding domains of IRF6 are associated with Van Der Woude syndrome. Alade AA; Buxo-Martinez CJ; Mossey PA; Gowans LJJ; Eshete MA; Adeyemo WL; Naicker T; Awotoye WA; Adeleke C; Busch T; Toraño AM; Bello CA; Soto M; Soto M; Ledesma R; Marquez M; Cordero JF; Lopez-Del Valle LM; Salcedo MI; Debs N; Li M; Petrin A; Olotu J; Aldous C; Olutayo J; Ogunlewe MO; Abate F; Hailu T; Muhammed I; Gravem P; Deribew M; Gesses M; Hassan M; Pape J; Adeniyan OA; Obiri-Yeboah S; Arthur FKN; Oti AA; Olatosi O; Miller SE; Donkor P; Dunnwald MM; Marazita ML; Adeyemo AA; Murray JC; Butali A Mol Genet Genomic Med; 2020 Aug; 8(8):e1355. PubMed ID: 32558391 [TBL] [Abstract][Full Text] [Related]
16. Interferon Regulatory Factor 6 Controls Proliferation of Keratinocytes From Children With Van der Woude Syndrome. Hixon K; Rhea L; Standley J; Canady FJ; Canady JW; Dunnwald M Cleft Palate Craniofac J; 2017 May; 54(3):281-286. PubMed ID: 27115562 [TBL] [Abstract][Full Text] [Related]
18. Altered regulation of cell migration in IRF6-mutated orofacial cleft patients-derived primary cells reveals a novel role of Rho GTPases in cleft/lip palate development. Ghassibe-Sabbagh M; El Hajj J; Al Saneh M; El Baba N; Abou Issa J; Al Haddad M; El Atat O; Sabbagh J; Abou Chebel N; El-Sibai M Cells Dev; 2021 Jun; 166():203674. PubMed ID: 33994351 [TBL] [Abstract][Full Text] [Related]
19. A novel homozygous RIPK4 variant in a family with severe Bartsocas-Papas syndrome. Dinçer T; Gümüş E; Toraman B; Er İ; Yildiz G; Yüksel Z; Kalay E Am J Med Genet A; 2021 Jun; 185(6):1691-1699. PubMed ID: 33713555 [TBL] [Abstract][Full Text] [Related]
20. Van der Woude Syndrome With a Novel Mutation in the IRF6 Gene. Ural A; Bilgen F; Çakmakli S; Bekerecioğlu M J Craniofac Surg; 2019 Jul; 30(5):e465-e467. PubMed ID: 31299817 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]