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SMAD4 gene mutation predicts poor prognosis in patients undergoing resection for colorectal liver metastases.

Mizuno T, Cloyd JM, Vicente D, Omichi K, Chun YS, Kopetz SE, Maru D, Conrad C, Tzeng CD, Wei SH, Aloia TA, Vauthey JN.

Eur J Surg Oncol. 2018 May;44(5):684-692. doi: 10.1016/j.ejso.2018.02.247. Epub 2018 Mar 7.


Smad4 Loss Correlates With Higher Rates of Local and Distant Failure in Pancreatic Adenocarcinoma Patients Receiving Adjuvant Chemoradiation.

Herman JM, Jabbour SK, Lin SH, Deek MP, Hsu CC, Fishman EK, Kim S, Cameron JL, Chekmareva M, Laheru DA, Narang AK, Pawlik TM, Hruban RH, Wolfgang CL, Iacobuzio-Donahue CA.

Pancreas. 2018 Feb;47(2):208-212. doi: 10.1097/MPA.0000000000000985.


A child with Myhre syndrome presenting with corectopia and tetralogy of Fallot.

Alagia M, Cappuccio G, Pinelli M, Torella A, Brunetti-Pierri R, Simonelli F, Limongelli G, Oppido G, Nigro V, Brunetti-Pierri N; TUDP.

Am J Med Genet A. 2018 Feb;176(2):426-430. doi: 10.1002/ajmg.a.38560. Epub 2017 Dec 12.


Valproic acid inhibits epithelial‑mesenchymal transition in renal cell carcinoma by decreasing SMAD4 expression.

Mao S, Lu G, Lan X, Yuan C, Jiang W, Chen Y, Jin X, Xia Q.

Mol Med Rep. 2017 Nov;16(5):6190-6199. doi: 10.3892/mmr.2017.7394. Epub 2017 Aug 29.


SMAD4 gene mutation increases the risk of aortic dilation in patients with hereditary haemorrhagic telangiectasia.

Vorselaars VMM, Diederik A, Prabhudesai V, Velthuis S, Vos JA, Snijder RJ, Westermann CJJ, Mulder BJ, Ploos van Amstel JK, Mager JJ, Faughnan ME, Post MC.

Int J Cardiol. 2017 Oct 15;245:114-118. doi: 10.1016/j.ijcard.2017.06.059.


Functional characteristics of a novel SMAD4 mutation from thoracic aortic aneurysms (TAA).

Wu L.

Gene. 2017 Sep 10;628:129-133. doi: 10.1016/j.gene.2017.07.042. Epub 2017 Jul 14.


A Functional Variant of SMAD4 Enhances Thoracic Aortic Aneurysm and Dissection Risk through Promoting Smooth Muscle Cell Apoptosis and Proteoglycan Degradation.

Wang Y, Huang HY, Bian GL, Yu YS, Ye WX, Hua F, Chen YH, Shen ZY.

EBioMedicine. 2017 Jul;21:197-205. doi: 10.1016/j.ebiom.2017.06.022. Epub 2017 Jun 22.


Reduced Smad4 expression and DNA topoisomerase inhibitor chemosensitivity in non-small cell lung cancer.

Ziemke M, Patil T, Nolan K, Tippimanchai D, Malkoski SP.

Lung Cancer. 2017 Jul;109:28-35. doi: 10.1016/j.lungcan.2017.04.017. Epub 2017 Apr 25.


SMAD4 Loss Is Associated with Cetuximab Resistance and Induction of MAPK/JNK Activation in Head and Neck Cancer Cells.

Ozawa H, Ranaweera RS, Izumchenko E, Makarev E, Zhavoronkov A, Fertig EJ, Howard JD, Markovic A, Bedi A, Ravi R, Perez J, Le QT, Kong CS, Jordan RC, Wang H, Kang H, Quon H, Sidransky D, Chung CH.

Clin Cancer Res. 2017 Sep 1;23(17):5162-5175. doi: 10.1158/1078-0432.CCR-16-1686. Epub 2017 May 18.


Prognostic value of loss of heterozygosity and sub-cellular localization of SMAD4 varies with tumor stage in colorectal cancer.

Jia X, Shanmugam C, Paluri RK, Jhala NC, Behring MP, Katkoori VR, Sugandha SP, Bae S, Samuel T, Manne U.

Oncotarget. 2017 Mar 21;8(12):20198-20212. doi: 10.18632/oncotarget.15560.


Myhre Syndrome.

Starr LJ, Lindor NM, Lin AE.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2019.
2017 Apr 13.


DPC4 gene expression in primary pancreatic ductal adenocarcinoma: relationship with CT characteristics.

Choi SH, Kim HJ, Kim KW, An S, Hong SM, Kim SC, Kim MH.

Br J Radiol. 2017 May;90(1073):20160403. doi: 10.1259/bjr.20160403. Epub 2017 Mar 24.


Predictive value of the combination of SMAD4 expression and lymphocyte infiltration in malignant transformation of oral leukoplakia.

Sakata J, Yoshida R, Matsuoka Y, Nagata M, Hirosue A, Kawahara K, Nakamura T, Nakamoto M, Hirayama M, Takahashi N, Nakashima H, Arita H, Ogi H, Hiraki A, Shinohara M, Nakayama H.

Cancer Med. 2017 Apr;6(4):730-738. doi: 10.1002/cam4.1005. Epub 2017 Mar 3.


The DPC4/SMAD4 genetic status determines recurrence patterns and treatment outcomes in resected pancreatic ductal adenocarcinoma: A prospective cohort study.

Shin SH, Kim HJ, Hwang DW, Lee JH, Song KB, Jun E, Shim IK, Hong SM, Kim HJ, Park KM, Lee YJ, Kim SC.

Oncotarget. 2017 Mar 14;8(11):17945-17959. doi: 10.18632/oncotarget.14901.


SMAD-4 gene expression in human colorectal cancer: Comparison with some clinical and pathological parameters.

Wosiak A, Wodziński D, Kolasa M, Sałagacka-Kubiak A, Balcerczak E.

Pathol Res Pract. 2017 Jan;213(1):45-49. doi: 10.1016/j.prp.2016.10.013. Epub 2016 Oct 26.


A SMAD4 mutation indicative of juvenile polyposis syndrome in a family previously diagnosed with Menetrier's disease.

Burmester JK, Bell LN, Cross D, Meyer P, Yale SH.

Dig Liver Dis. 2016 Oct;48(10):1255-9. doi: 10.1016/j.dld.2016.06.010. Epub 2016 Jun 17.


Gain-of-function mutations in SMAD4 cause a distinctive repertoire of cardiovascular phenotypes in patients with Myhre syndrome.

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.

Am J Med Genet A. 2016 Oct;170(10):2617-31. doi: 10.1002/ajmg.a.37739. Epub 2016 Jun 14. Review.


Maximum Standard Uptake Value as a Clinical Biomarker for Detecting Loss of SMAD4 Expression and Early Systemic Tumor Recurrence in Resected Left-Sided Pancreatic Cancer.

Kang CM, Hwang HK, Park J, Kim C, Cho SK, Yun M, Lee WJ.

Medicine (Baltimore). 2016 Apr;95(17):e3452. doi: 10.1097/MD.0000000000003452.


Transforming growth factor-β1 SMAD effectors and medial cell number in ascending aorta diseases.

Aparecida-Silva R, Borges LF, Kessler K, Dias RR, Moreira LFP, Kalil J, Gutierrez PS.

Cardiovasc Pathol. 2016 May-Jun;25(3):240-246. doi: 10.1016/j.carpath.2016.02.003. Epub 2016 Feb 24.


JP-HHT phenotype in Danish patients with SMAD4 mutations.

Jelsig AM, Tørring PM, Kjeldsen AD, Qvist N, Bojesen A, Jensen UB, Andersen MK, Gerdes AM, Brusgaard K, Ousager LB.

Clin Genet. 2016 Jul;90(1):55-62. doi: 10.1111/cge.12693. Epub 2015 Dec 21.


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