Presentation is loading. Please wait.

Presentation is loading. Please wait.

Pediatric Mastocytosis Is a Clonal Disease Associated with D816V and Other Activating c-KIT Mutations  Christine Bodemer, Olivier Hermine, Fabienne Palmérini,

Published byEdith Rancourt Modified over 5 years ago

Similar presentations

Presentation on theme: "Pediatric Mastocytosis Is a Clonal Disease Associated with D816V and Other Activating c-KIT Mutations  Christine Bodemer, Olivier Hermine, Fabienne Palmérini,"— Presentation transcript:

1 Pediatric Mastocytosis Is a Clonal Disease Associated with D816V and Other Activating c-KIT Mutations  Christine Bodemer, Olivier Hermine, Fabienne Palmérini, Ying Yang, Catherine Grandpeix-Guyodo, Phillip S. Leventhal, Smail Hadj- Rabia, Laurent Nasca, Sophie Georgin-Lavialle, Annick Cohen-Akenine, Jean-Marie Launay, Stéphane Barete, Frédéric Feger, Michel Arock, Benoît Catteau, Beatrix Sans, Jean François Stalder, Francois Skowron, Luc Thomas, Gérard Lorette, Patrice Plantin, Pierre Bordigoni, Olivier Lortholary, Yves de Prost, Alain Moussy, Hagay Sobol, Patrice Dubreuil  Journal of Investigative Dermatology  Volume 130, Issue 3, Pages (March 2010) DOI: /jid Copyright © 2010 The Society for Investigative Dermatology, Inc Terms and Conditions

2 Figure 1 Summary of c-KIT mutations found in the patients with childhood mastocytosis. Schematic diagram of the KIT receptor protein and the corresponding location of the 21-exon coding sequence. The exon numbers are shown in boxes, and specific mutations are indicated in the corresponding regions. The numbers of identical mutations found in this study appear in parentheses. Also shown is a schematic map of PCR products (primers used are listed in Supplementary Table 1). The position of GNNK+ isoform is indicated at the end of exon 9. Ig, Ig loop-like domain; JM, juxtamembrane intracellular domain; TK1 and TK2, tyrosine kinase domain regions 1 and 2, respectively; TM, transmembrane domain. Journal of Investigative Dermatology  , DOI: ( /jid ) Copyright © 2010 The Society for Investigative Dermatology, Inc Terms and Conditions

3 Figure 2 Ligand-independent autophosphorylation of KIT. Cos cells were transiently transfected with pcDNA plasmids for expressing wild type or mutants of KIT and treated with (+) or without (-) 250ngml−1 stem cell factor (SCF). Western blotting was carried out using an antibody against KIT phosphorylated on Tyr719 (anti-PY719 KIT) or with an anti-c-KIT antibody (anti-KIT). Journal of Investigative Dermatology  , DOI: ( /jid ) Copyright © 2010 The Society for Investigative Dermatology, Inc Terms and Conditions

Download ppt "Pediatric Mastocytosis Is a Clonal Disease Associated with D816V and Other Activating c-KIT Mutations  Christine Bodemer, Olivier Hermine, Fabienne Palmérini,"

Similar presentations

A Novel XPA Gene Mutation and its Functional Analysis in a Japanese Patient with Xeroderma Pigmentosum Group A  Miki Tanioka, Arief Budiyant, Takahiro.

A Novel XPA Gene Mutation and its Functional Analysis in a Japanese Patient with Xeroderma Pigmentosum Group A  Miki Tanioka, Arief Budiyant, Takahiro.
Implications of somatic mutations in the AML1 gene in radiation-associated and therapy-related myelodysplastic syndrome/acute myeloid leukemia by Hironori.

Implications of somatic mutations in the AML1 gene in radiation-associated and therapy-related myelodysplastic syndrome/acute myeloid leukemia by Hironori.
Crucial Roles of MZF1 and Sp1 in the Transcriptional Regulation of the Peptidylarginine Deiminase Type I Gene (PADI1) in Human Keratinocytes  Sijun Dong,

Crucial Roles of MZF1 and Sp1 in the Transcriptional Regulation of the Peptidylarginine Deiminase Type I Gene (PADI1) in Human Keratinocytes  Sijun Dong,
Rethinking bioactivity of FLT3 inhibitors

Rethinking bioactivity of FLT3 inhibitors
Blood CD34−c-Kit+ cell rate correlates with aggressive forms of systemic mastocytosis and behaves like a mast cell precursor by Sophie Georgin-Lavialle,

Blood CD34−c-Kit+ cell rate correlates with aggressive forms of systemic mastocytosis and behaves like a mast cell precursor by Sophie Georgin-Lavialle,
Next-Generation Sequencing for Mutation Detection in Heritable Skin Diseases: The Paradigm of Pseudoxanthoma Elasticum  Andrew P. South, Qiaoli Li, Jouni.

Next-Generation Sequencing for Mutation Detection in Heritable Skin Diseases: The Paradigm of Pseudoxanthoma Elasticum  Andrew P. South, Qiaoli Li, Jouni.
Volume 125, Issue 3, Pages (September 2003)

Volume 125, Issue 3, Pages (September 2003)
Next-Generation Sequencing: Methodology and Application

Next-Generation Sequencing: Methodology and Application
Volume 127, Issue 5, Pages (November 2004)

Volume 127, Issue 5, Pages (November 2004)
IFN-γ Upregulates Expression of the Mouse Complement C1rA Gene in Keratinocytes via IFN-Regulatory Factor-1  Sung June Byun, Ik-Soo Jeon, Hyangkyu Lee,

IFN-γ Upregulates Expression of the Mouse Complement C1rA Gene in Keratinocytes via IFN-Regulatory Factor-1  Sung June Byun, Ik-Soo Jeon, Hyangkyu Lee,
A New Lamin A Mutation Associated with Acrogeria Syndrome

A New Lamin A Mutation Associated with Acrogeria Syndrome
Ying-Hong Feng, Lingyin Zhou, Yan Sun, Janice G. Douglas 

Ying-Hong Feng, Lingyin Zhou, Yan Sun, Janice G. Douglas 
North, South, or East? Blotting Techniques

North, South, or East? Blotting Techniques
Transcriptional Control of the Mouse Col7a1 Gene in Keratinocytes: Basal and Transforming Growth Factor-β Regulated Expression  Michael Naso, Jouni Uitto,

Transcriptional Control of the Mouse Col7a1 Gene in Keratinocytes: Basal and Transforming Growth Factor-β Regulated Expression  Michael Naso, Jouni Uitto,
Tomoyasu Hattori, Lukasz Stawski, Sashidhar S

Tomoyasu Hattori, Lukasz Stawski, Sashidhar S
Hailey–Hailey Disease: Identification of Novel Mutations in ATP2C1 and Effect of Missense Mutation A528P on Protein Expression Levels  Rebecca J. Fairclough,

Hailey–Hailey Disease: Identification of Novel Mutations in ATP2C1 and Effect of Missense Mutation A528P on Protein Expression Levels  Rebecca J. Fairclough,
MiTF Regulates Cellular Response to Reactive Oxygen Species through Transcriptional Regulation of APE-1/Ref-1  Feng Liu, Yan Fu, Frank L. Meyskens  Journal.

MiTF Regulates Cellular Response to Reactive Oxygen Species through Transcriptional Regulation of APE-1/Ref-1  Feng Liu, Yan Fu, Frank L. Meyskens  Journal.
Gastrointestinal manifestations in mastocytosis: A study of 83 patients  Harry Sokol, MD, PhD, Sophie Georgin-Lavialle, MD, PhD, Danielle Canioni, MD,

Gastrointestinal manifestations in mastocytosis: A study of 83 patients  Harry Sokol, MD, PhD, Sophie Georgin-Lavialle, MD, PhD, Danielle Canioni, MD,
Kavitha K. Reddy  Journal of Investigative Dermatology 

Kavitha K. Reddy  Journal of Investigative Dermatology 
Alexander J. Lakhter, Ravi P. Sahu, Yang Sun, William K

Alexander J. Lakhter, Ravi P. Sahu, Yang Sun, William K

Similar presentations

Ads by Google