Below are the most recent publications written about "Smad4 Protein" by people in Profiles.
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Bertrand-Chapel A, Caligaris C, Fenouil T, Savary C, Aires S, Martel S, Huched? P, Chassot C, Chauvet V, Cardot-Ruffino V, Morel AP, Subtil F, Mohkam K, Mabrut JY, Tonon L, Viari A, Cassier P, Hervieu V, Castets M, Mauviel A, Sentis S, Bartholin L. SMAD2/3 mediate oncogenic effects of TGF-? in the absence of SMAD4. Commun Biol. 2022 10 07; 5(1):1068.
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Gheewalla GM, Luther J, Das S, Kreher JB, Scimone ER, Wong AW, Lindsay ME, Lin AE. An additional patient with SMAD4-Juvenile Polyposis-Hereditary hemorrhagic telangiectasia and connective tissue abnormalities: SMAD4 loss-of-function and gain-of-function pathogenic variants result in contrasting phenotypes. Am J Med Genet A. 2022 Oct; 188(10):3084-3088.
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Cappuccio G, Brunetti-Pierri N, Clift P, Learn C, Dykes JC, Mercer CL, Callewaert B, Meerschaut I, Spinelli AM, Bruno I, Gillespie MJ, Dorfman AT, Grimberg A, Lindsay ME, Lin AE. Expanded cardiovascular phenotype of Myhre syndrome includes tetralogy of Fallot suggesting a role for SMAD4 in human neural crest defects. Am J Med Genet A. 2022 05; 188(5):1384-1395.
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Lin AE, Brunetti-Pierri N, Callewaert B, Cormier-Daire V, Douzgou S, Kinane TB, Lindsay ME, Starr LJ. Lack of resemblance between Myhre syndrome and other "segmental progeroid" syndromes warrants restraint in applying this classification. Geroscience. 2021 04; 43(2):459-461.
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Lenkiewicz E, Malasi S, Hogenson TL, Flores LF, Barham W, Phillips WJ, Roesler AS, Chambers KR, Rajbhandari N, Hayashi A, Antal CE, Downes M, Grandgenett PM, Hollingsworth MA, Cridebring D, Xiong Y, Lee JH, Ye Z, Yan H, Hernandez MC, Leiting JL, Evans RM, Ordog T, Truty MJ, Borad MJ, Reya T, Von Hoff DD, Fernandez-Zapico ME, Barrett MT. Genomic and Epigenomic Landscaping Defines New Therapeutic Targets for Adenosquamous Carcinoma of the Pancreas. Cancer Res. 2020 10 15; 80(20):4324-4334.
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Lin AE, Alali A, Starr LJ, Shah N, Beavis A, Pereira EM, Lindsay ME, Klugman S. Gain-of-function pathogenic variants in SMAD4 are associated with neoplasia in Myhre syndrome. Am J Med Genet A. 2020 02; 182(2):328-337.
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Barrett MT, Deiotte R, Lenkiewicz E, Malasi S, Holley T, Evers L, Posner RG, Jones T, Han H, Sausen M, Velculescu VE, Drebin J, O'Dwyer P, Jameson G, Ramanathan RK, Von Hoff DD. Clinical study of genomic drivers in pancreatic ductal adenocarcinoma. Br J Cancer. 2017 Aug 08; 117(4):572-582.
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Lin AE, Michot C, Cormier-Daire V, L'Ecuyer TJ, Matherne GP, Barnes BH, Humberson JB, Edmondson AC, Zackai E, O'Connor MJ, Kaplan JD, Ebeid MR, Krier J, Krieg E, Ghoshhajra B, Lindsay ME. Gain-of-function mutations in SMAD4 cause a distinctive repertoire of cardiovascular phenotypes in patients with Myhre syndrome. Am J Med Genet A. 2016 10; 170(10):2617-31.
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Michot C, Le Goff C, Mahaut C, Afenjar A, Brooks AS, Campeau PM, Destree A, Di Rocco M, Donnai D, Hennekam R, Heron D, Jacquemont S, Kannu P, Lin AE, Manouvrier-Hanu S, Mansour S, Marlin S, McGowan R, Murphy H, Raas-Rothschild A, Rio M, Simon M, Stolte-Dijkstra I, Stone JR, Sznajer Y, Tolmie J, Touraine R, van den Ende J, Van der Aa N, van Essen T, Verloes A, Munnich A, Cormier-Daire V. Myhre and LAPS syndromes: clinical and molecular review of 32 patients. Eur J Hum Genet. 2014 Nov; 22(11):1272-7.
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Teekakirikul P, Milewicz DM, Miller DT, Lacro RV, Regalado ES, Rosales AM, Ryan DP, Toler TL, Lin AE. Thoracic aortic disease in two patients with juvenile polyposis syndrome and SMAD4 mutations. Am J Med Genet A. 2013 Jan; 161A(1):185-91.