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Journal Abstract Search

232 related items for PubMed ID: 22197489

  • 1. Mutations in RIPK4 cause the autosomal-recessive form of popliteal pterygium syndrome.
    Kalay E, Sezgin O, Chellappa V, Mutlu M, Morsy H, Kayserili H, Kreiger E, Cansu A, Toraman B, Abdalla EM, Aslan Y, Pillai S, Akarsu NA.
    Am J Hum Genet; 2012 Jan 13; 90(1):76-85. PubMed ID: 22197489
    [Abstract] [Full Text] [Related]

  • 2. Exome sequence identifies RIPK4 as the Bartsocas-Papas syndrome locus.
    Mitchell K, O'Sullivan J, Missero C, Blair E, Richardson R, Anderson B, Antonini D, Murray JC, Shanske AL, Schutte BC, Romano RA, Sinha S, Bhaskar SS, Black GC, Dixon J, Dixon MJ.
    Am J Hum Genet; 2012 Jan 13; 90(1):69-75. PubMed ID: 22197488
    [Abstract] [Full Text] [Related]

  • 3. 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 13; 167A(3):545-52. PubMed ID: 25691407
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  • 7. 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 13; 22(6):1012-24. PubMed ID: 25430793
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  • 8. Receptor-interacting protein kinase 4 and interferon regulatory factor 6 function as a signaling axis to regulate keratinocyte differentiation.
    Kwa MQ, Huynh J, Aw J, Zhang L, Nguyen T, Reynolds EC, Sweet MJ, Hamilton JA, Scholz GM.
    J Biol Chem; 2014 Nov 07; 289(45):31077-87. PubMed ID: 25246526
    [Abstract] [Full Text] [Related]

  • 9. [The role of RIPK4 in epidermis physiology].
    Wolnicka-Głubisz A, Madej E, Lisek A.
    Postepy Biochem; 2021 Mar 31; 67(1):64-71. PubMed ID: 34378900
    [Abstract] [Full Text] [Related]

  • 10. Exome analysis in clinical practice: expanding the phenotype of Bartsocas-Papas syndrome.
    Gripp KW, Ennis S, Napoli J.
    Am J Med Genet A; 2013 May 31; 161A(5):1058-63. PubMed ID: 23610050
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  • 11. Novel heterozygous pathogenic variants in CHUK in a patient with AEC-like phenotype, immune deficiencies and 1q21.1 microdeletion syndrome: a case report.
    Cadieux-Dion M, Safina NP, Engleman K, Saunders C, Repnikova E, Raje N, Canty K, Farrow E, Miller N, Zellmer L, Thiffault I.
    BMC Med Genet; 2018 Mar 09; 19(1):41. PubMed ID: 29523099
    [Abstract] [Full Text] [Related]

  • 12. Disease-associated mutations in IRF6 and RIPK4 dysregulate their signalling functions.
    Kwa MQ, Huynh J, Reynolds EC, Hamilton JA, Scholz GM.
    Cell Signal; 2015 Jul 09; 27(7):1509-16. PubMed ID: 25784454
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  • 13. 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 09; 170(9):2404-7. PubMed ID: 27286731
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  • 14. Keratinocyte-Specific Ablation of RIPK4 Allows Epidermal Cornification but Impairs Skin Barrier Formation.
    Urwyler-Rösselet C, Tanghe G, Leurs K, Gilbert B, De Rycke R, De Bruyne M, Lippens S, Bartunkova S, De Groote P, Niessen C, Haftek M, Vandenabeele P, Declercq W.
    J Invest Dermatol; 2018 Jun 09; 138(6):1268-1278. PubMed ID: 29317263
    [Abstract] [Full Text] [Related]

  • 15. Mutations in IRF6 do not cause Bartsocas-Papas syndrome in a family with two affected sibs.
    Shanske AL, Hoper SA, Krahn K, Schutte BC.
    Am J Med Genet A; 2004 Aug 01; 128A(4):431-3. PubMed ID: 15264293
    [No Abstract] [Full Text] [Related]

  • 16. Crystal Structure of Ripk4 Reveals Dimerization-Dependent Kinase Activity.
    Huang CS, Oberbeck N, Hsiao YC, Liu P, Johnson AR, Dixit VM, Hymowitz SG.
    Structure; 2018 May 01; 26(5):767-777.e5. PubMed ID: 29706531
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  • 17. Popliteal pterygium syndrome: a phenotypic and genetic analysis.
    Escobar V, Weaver D.
    J Med Genet; 1978 Feb 01; 15(1):35-42. PubMed ID: 633318
    [Abstract] [Full Text] [Related]

  • 18. 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 01; 52(5):e161-7. PubMed ID: 25489771
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  • 19. The facio-genito-popliteal syndrome.
    Escobar V, Weaver DD.
    Birth Defects Orig Artic Ser; 1978 Sep 01; 14(6B):185-92. PubMed ID: 728559
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  • 20. A family with the popliteal pterygium syndrome.
    Pashayan HM, Lewis MB.
    Cleft Palate J; 1980 Jan 01; 17(1):48-51. PubMed ID: 6928117
    [Abstract] [Full Text] [Related]

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