a restricted spectrum of mutations in the smad4 tumor-suppressor gene underlies myhre syndrome...

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A Restricted Spectrum of Mutations in the SMAD4 Tumor-Suppressor Gene Underlies Myhre Syndrome Viviana Caputo, Luciano Cianetti, Marcello Niceta, Claudio Carta, Andrea Ciolﬁ, Gianfranco Bocchinfuso, Eugenio Carrani, Maria Lisa Dentici, Elisa Biamino, Elga Belligni, Livia Garavelli, Loredana Boccone, Daniela Melis, Generoso Andria, Bruce D. Gelb, Lorenzo Stella, Margherita Silengo, Bruno Dallapiccola, Marco Tartaglia The American Journal of Human Genetics Volume 90, Issue 1, Pages 161-169 (January 2012) DOI: 10.1016/j.ajhg.2011.12.011 Copyright © 2012 The American Society of Human Genetics Terms and Conditions

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Page 1: A Restricted Spectrum of Mutations in the SMAD4 Tumor-Suppressor Gene Underlies Myhre Syndrome Viviana Caputo, Luciano Cianetti, Marcello Niceta, Claudio

A Restricted Spectrum of Mutations in the SMAD4 Tumor-Suppressor Gene Underlies Myhre Syndrome

Viviana Caputo, Luciano Cianetti, Marcello Niceta, Claudio Carta, Andrea Ciolfi, Gianfranco Bocchinfuso, Eugenio Carrani, Maria Lisa Dentici, Elisa Biamino, Elga Belligni, Livia Garavelli, Loredana Boccone, Daniela Melis, Generoso Andria, Bruce D. Gelb, Lorenzo Stella,

Margherita Silengo, Bruno Dallapiccola, Marco Tartaglia

The American Journal of Human Genetics Volume 90, Issue 1, Pages 161-169 (January 2012)

DOI: 10.1016/j.ajhg.2011.12.011

Copyright © 2012 The American Society of Human Genetics Terms and Conditions

http://www.elsevier.com/termsandconditions

Page 2: A Restricted Spectrum of Mutations in the SMAD4 Tumor-Suppressor Gene Underlies Myhre Syndrome Viviana Caputo, Luciano Cianetti, Marcello Niceta, Claudio

Figure 1

The American Journal of Human Genetics 2012 90, 161-169DOI: (10.1016/j.ajhg.2011.12.011) Copyright © 2012 The American Society of Human Genetics Terms and Conditions

http://www.elsevier.com/termsandconditions

Page 3: A Restricted Spectrum of Mutations in the SMAD4 Tumor-Suppressor Gene Underlies Myhre Syndrome Viviana Caputo, Luciano Cianetti, Marcello Niceta, Claudio

Figure 2

The American Journal of Human Genetics 2012 90, 161-169DOI: (10.1016/j.ajhg.2011.12.011) Copyright © 2012 The American Society of Human Genetics Terms and Conditions

http://www.elsevier.com/termsandconditions

S Figure 1. Microarray SMAD4 immunohistochemical staining in

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Investigating the Role of SMAD4 in ... - Rutgers University

FLAG-PAWS1 HA-SMAD1 BMP GFP-SMAD4 +-+++--- ----++++ +++--+++ +--+++-- IP: GFP IB: HA IB: FLAG IB: P-SMAD1 S206 IB: GFP IB: P-SMAD1 S206 IB: HA IB: FLAG

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and SMAD4 Mutations in Colorectal Cancer · 10.01.2013 · facilitates nuclear import, DNA and transcriptional coregu-lator binding, and negatively regulates the MH2 domain (14,

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SMAD4-mediated WNT signaling controls the fate of cranial ...dev.biologists.org/content/develop/early/2011/04/13/dev.061341... · 3Department of Stomatology, Beijing Friendship Hospital,

Smad6 inhibits BMP/Smad1 signaling by specifically ...genesdev.cshlp.org/content/12/2/186.full.pdf · Smad6 inhibits BMP/Smad1 signaling by specifically competing with the Smad4 tumor

BMC Cancer BioMed Central€¦ · Loss of nuclear Smad4 expression in tumor was associated wi th presence of lymph node metastasis, but no influence on prognosis could be demonstrated

“The Complexity of Susceptibility to Cancer”collaboration.aacr.org/sites/CPS/Shared Documents/Session 14... · NF2 NBS1 SDHD SDHC SDHB STK11 APC BMPR1A SMAD4 MUTYH FH MET RB1

· PDF file11-11-2017 · — Sr. Niceta M. Vargas, OSA the ot after the so that yoe tan actively in celebration . THE RITES EntranCe Antiph

Smad4 is dispensable for normal pancreas …genesdev.cshlp.org/content/20/22/3130.full.pdfSmad4 is dispensable for normal pancreas development yet critical in progression and tumor

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Forensic investigations of falls using Adams...Multibody Dynamics Forensic investigations of falls using Adams By Giulia Pascoletti, Paolo Conti , Filippo Cianetti, Elisabetta M. Zanetti,

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Mechanisms of Hormone Action: Peptide Hormones pdfs/FRE-MHA Peptide.pdfSmads Mutations in many cancers, including Smad4 mutation seminoma testicular germ cell tumor Transcription Factors

Smad4 (Dpc4) in Colon Cancer

Megakaryocytic Smad4 Regulates Platelet Function through ...molpharm.aspetjournals.org/content/molpharm/92/3/285.full.pdf · thiazole orange (100 ng/ml) and a CD41-PE antibody at

Epithelial-MesenchymalTransitioninOral SquamousCellCarcinoma · Kaiso Kaiso TCF Smad4 Smad4 Smad2/3 Smad2/3 MEK Unknown? GSK3 β TGFβ TGFβRII TGFβRI Figure 1: The pivotal role

Pancreatic Cancer: Pathogenesis and Diagnosis · Pancreas is an important retroperitoneal organ with ... SMAD4/DPC loss). 1) ... http:dx.doi.org10.7314APCP.2015.16.14.5619

lncRNA THAP9-AS1 Promotes Pancreatic Ductal Adenocarcinoma ... · Pancreatic ductal adenocarcinoma (PDAC) ... TP53, and SMAD4 cancer suppressor genes, PDAC evolves through a series

Niceta, Laudatio Sanctorum Archangelorum Michaelis Et Gabrielis, Tolosae 1637

Smad4-Dependent Transcription by Triggering Signal-Induced SnoN Degradation

SUPPLEMENTARY INFORMATION INFORMATION 5 FIGURE S5 a SMAD4 JP Polyp Lkb1 PJ Polyp Yap1 ABL2 MID1 FST SLC16A6 ACAT2 MIR622 GADD45A SLC2A3 ACLY MYBL1 GADD45B

pneumonia against bacterial dissemination during€¦ · During inflammation, hepcidin is induced as an acute-phase reactant by IL-6 and Activin B via STAT3 and SMAD4, respectively

A network including TGF/Smad4, Gata2 and p57 regulates ...lup.lub.lu.se/search/ws/files/11246171/Elsevier_Billing_et_al.pdfMatilda Billing1, Emma Rörby1, Gillian May2, Alex J. Tipping2,

UNDERSTANDING THE ROLE OF SMAD4 IN INTESTINAL …etd.library.vanderbilt.edu/available/etd-07292014-141638/unrestricted/Freeman.pdfUNDERSTANDING THE ROLE OF SMAD4 IN INTESTINAL HOMEOSTASIS

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Characterization and Genomic Localization of a SMAD4 ...eprints.whiterose.ac.uk/121101/1/1-s2.0-S... · Carr IM, Charlton R, Bonthron DT, Characterization and Genomic Localization

Cell, Vol. 121, 87–99, April 8, 2005, Copyright ©2005 by ...courses.bio.unc.edu/2012fall/biol624/conlon/Induction 2011/piccolo... · genic effects of Smad4 in tumor cells. We propose

-Smad4-Fgf6 signaling cascade controls ... - Development · functions of the tongue, little is known about the regulatory mechanisms of tongue muscle development. TGF family members

FAM/USP9x, a Deubiquitinating Enzyme …snewfeld.lab.asu.edu/pdf/newfeld_fam_print.pdfFAM/USP9x, a Deubiquitinating Enzyme Essential for TGFb Signaling, Controls Smad4 Monoubiquitination