A Novel Loss-of-Function Mutation (N48K) in the PTEN Gene in a Spanish Patient with Cowden Disease Ana Vega, Josema Torres, María Torres, José Cameselle-teijeiro,

Slides:

Advertisements

Similar presentations

Detection of Exon 12 Mutations in the JAK2 Gene

Advertisements

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

Mutations in linker for activation of T cells (LAT) lead to a novel form of severe combined immunodeficiency Chiara Bacchelli, PhD, Federico A. Moretti,

Keratins as Susceptibility Genes for End-Stage Liver Disease

Genetic Heterogeneity of Pseudoxanthoma Elasticum: The Chinese Signature Profile of ABCC6 and ENPP1 Mutations Liang Jin, Qiujie Jiang, Zhengsheng Wu,

A Novel Mutation and Large Size Polymorphism Affecting the V2 Domain of Keratin 1 in an African-American Family with Severe, Diffuse Palmoplantar Keratoderma.

The vacuolar-ATPase B1 subunit in distal tubular acidosis: novel mutations and mechanisms for dysfunction D.G. Fuster, J. Zhang, X.-S. Xie, O.W. Moe

Constitutive Phosphorylation of Focal Adhesion Kinase Is Involved in the Myofibroblast Differentiation of Scleroderma Fibroblasts Yoshihiro Mimura, Hironobu.

Mutations in linker for activation of T cells (LAT) lead to a novel form of severe combined immunodeficiency Chiara Bacchelli, PhD, Federico A. Moretti,

Herlitz Junctional Epidermolysis Bullosa: Novel and Recurrent Mutations in the LAMB3 Gene and the Population Carrier Frequency Aoi Nakano, Ellen Pfendner,

Identification and characterization of polymorphic variations of the ataxia telangiectasia mutated (ATM) gene in childhood Hodgkin disease by Masatoshi.

Volume 87, Issue 7, Pages (December 1996)

Mutations in the Keratin 85 (KRT85/hHb5) Gene Underlie Pure Hair and Nail Ectodermal Dysplasia Yutaka Shimomura, Muhammad Wajid, Mazen Kurban, Nobuyuki.

Hongli Liu, M. D. , Ph. D. , Xiaofei Xu, M. D. , Ph. D. , Ting Han, M

Detection of Exon 12 Mutations in the JAK2 Gene

Multiple PKCδ Tyrosine Residues Are Required for PKCδ-Dependent Activation of Involucrin Expression—a Key Role of PKCδ-Y311 Ling Zhu, Chaya Brodie, Sivaprakasam.

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

Claudia D. Andl, John R. Stanley Journal of Investigative Dermatology

Splice Site and Deletion Mutations in Keratin (KRT1 and KRT10) Genes: Unusual Phenotypic Alterations in Scandinavian Patients with Epidermolytic Hyperkeratosis

Susana H. Kofman-Alfaro, Ana L. Jimenez Vaca, Sergio A

Novel Homozygous and Compound Heterozygous COL17A1 Mutations Associated with Junctional Epidermolysis Bullosa Michaela Floeth, Heike Schäcke, Nadja Hammami-Hauasli,

Synergistic Pathogenic Effects of Combined Mouse Monoclonal Anti-Desmoglein 3 IgG Antibodies on Pemphigus Vulgaris Blister Formation Hiroshi Kawasaki,

Activation of a Cryptic Splice Site of PTEN and Loss of Heterozygosity in Benign Skin Lesions in Cowden Disease Stephen J. Meltzer, Manfred Wolter Journal.

Cryptic Splicing at a Non-Consensus Splice-Donor in a Patient with a Novel Mutation in the Plakophilin-1 Gene Peter M. Steijlen, Maurice A.M. van Steensel,

Laurent Gouya Journal of Investigative Dermatology

A Homozygous Nonsense Mutation in Type XVII Collagen Gene (COL17A1) Uncovers an Alternatively Spliced mRNA Accounting for an Unusually Mild Form of Non-Herlitz.

Upregulation of Tenascin-C Expression by IL-13 in Human Dermal Fibroblasts via the Phosphoinositide 3-kinase/Akt and the Protein Kinase C Signaling Pathways

Guofang Hu, Meltem Önder, Melissa Gill, Burhan Aksakal, Murat Öztas, M

Histamine Inhibits the Production of Interferon-induced Protein of 10 kDa in Human Squamous Cell Carcinoma and Melanoma Naoko Kanda, Shinichi Watanabe

Naoko Kanda, Shinichi Watanabe Journal of Investigative Dermatology

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

Long-Range Polymerase Chain Reaction for Specific Full-Length Amplification of the Human Keratin 14 Gene and Novel Keratin 14 Mutations in Epidermolysis.

Rapid Decay of α6 Integrin Caused by a Mis-Sense Mutation in the Propeller Domain Results in Severe Junctional Epidermolysis Bullosa with Pyloric Atresia

Cyclooxygenase-2 Inhibitor Enhances Whereas Prostaglandin E2Inhibits the Production of Interferon-Induced Protein of 10 kDa in Epidermoid Carcinoma A431

Yongsheng Ma, Eric Carter, Xiaomei Wang, Chang Shu

Human Elastase 1: Evidence for Expression in the Skin and the Identification of a Frequent Frameshift Polymorphism Ulvi Talas, John Dunlop, Sahera Khalaf,

Volume 6, Issue 4, Pages (April 1996)

Minutes of the Board of Directors Meeting

Protein Kinase C-βII Represses Hepatocyte Growth Factor-Induced Invasion by Preventing the Association of Adapter Protein Gab1 and Phosphatidylinositol.

Lack of EVER2 Protein in Two Epidermodysplasia Verruciformis Patients with Skin Cancer Presenting Previously Unreported Homozygous Genetic Deletions in.

High Frequency of Hermansky–Pudlak Syndrome Type 1 (HPS1) Among Japanese Albinism Patients and Functional Analysis of HPS1 Mutant Protein Shiro Ito,

Homozygous Mutations in the 5′ Region of the JUP Gene Result in Cutaneous Disease but Normal Heart Development in Children Rita M. Cabral, Lu Liu, Carol.

A Novel Arginine→Serine Mutation in EDA1 in a Japanese Family with X-Linked Anhidrotic Ectodermal Dysplasia Noriaki Aoki, Kaoru Ito, Toshiaki Tachibana,

Barbara Marinari, Costanza Ballaro, Maranke I

PEX3 Is the Causal Gene Responsible for Peroxisome Membrane Assembly–Defective Zellweger Syndrome of Complementation Group G Kamran Ghaedi, Masanori.

Identification of Rare, Disease-Associated Variants in the Promoter Region of the RNF114 Psoriasis Susceptibility Gene Alexandros Onoufriadis, Michael.

Maternal Transmission of the 3 bp Deletion within Exon 7 of the STS Gene in Steroid Sulfatase Deficiency Margarita Valdes-Flores Journal of Investigative.

Society for Investigative Dermatology 2010 Meeting Minutes

17β-Estradiol Inhibits Oxidative Stress-Induced Apoptosis in Keratinocytes by Promoting Bcl-2 Expression Naoko Kanda, Shinichi Watanabe Journal of Investigative.

Research Snippets Journal of Investigative Dermatology

Compound Heterozygosity for Novel Splice Site Mutations in the BPAG2/COL17A1 Gene Underlies Generalized Atrophic Benign Epidermolysis Bullosa Leena Pulkkinen,

A Usual Frameshift and Delayed Termination Codon Mutation in Keratin 5 Causes a Novel Type of Epidermolysis Bullosa Simplex with Migratory Circinate Erythema

Research Snippets from the British Journal of Dermatology

Jittima Dhitavat, Leonard Dode, Natalie Leslie, Anavaj Sakuntabhai

Identification of Transglutaminase 3 Splicing Isoforms

A Promoter Sequence Variant of ZNF750 Is Linked with Familial Psoriasis Chi-Fan Yang, Wuh-Liang Hwu, Li-Cheng Yang, Wen-Hung Chung, Yin-Hsiu Chien, Chia-Fu.

Journal of Investigative Dermatology

A Lack of Birbeck Granules in Langerhans Cells Is Associated with a Naturally Occurring Point Mutation in the Human Langerin Gene Pauline Verdijk, Remco.

Autoantibody in Mucous Membrane Pemphigoid Binds to an Intracellular Epitope on Human β4 Integrin and Causes Basement Membrane Zone Separation in Oral.

Naoko Kanda, Shinichi Watanabe Journal of Investigative Dermatology

Early Death from Cardiomyopathy in a Family with Autosomal Dominant Striate Palmoplantar Keratoderma and Woolly Hair Associated with a Novel Insertion.

Anthony M. Raizis, Martin M. Ferguson, David T. Nicholls, Derek W

Loss of Novel mda-7 Splice Variant (mda-7s) Expression is Associated with Metastatic Melanoma1 Matthew Allen, Barbara Pratscher, Florian Roka, Clemens.

Naoko Kanda, Shinichi Watanabe Journal of Investigative Dermatology

A Second Leaky Splice-Site Mutation in the Spastin Gene

Novel Keratin 14 Mutations in Patients with Severe Recessive Epidermolysis Bullosa Simplex Cristina Has, Yow-Ren Chang, Andreas Volz, Doris Hoeping,

Journal of Investigative Dermatology

Mutations in NEXN, a Z-Disc Gene, Are Associated with Hypertrophic Cardiomyopathy Hu Wang, Zhaohui Li, Jizheng Wang, Kai Sun, Qiqiong Cui, Lei Song, Yubao.

Antigen Selection of Anti-DSG1 Autoantibodies During and Before the Onset of Endemic Pemphigus Foliaceus Ye Qian, Stephen H. Clarke, Valeria Aoki, Gunter.

Three Families with Autosomal Dominant Nephrogenic Diabetes Insipidus Caused by Aquaporin-2 Mutations in the C-Terminus Michio Kuwahara, Kazuyuki Iwai,

Presentation transcript:

A Novel Loss-of-Function Mutation (N48K) in the PTEN Gene in a Spanish Patient with Cowden Disease Ana Vega, Josema Torres, María Torres, José Cameselle-teijeiro, Manuel Macia, Ángel Carracedo, Rafael Pulido Journal of Investigative Dermatology Volume 121, Issue 6, Pages 1356-1359 (December 2003) DOI: 10.1111/j.1523-1747.2003.12638.x Copyright © 2003 The Society for Investigative Dermatology, Inc Terms and Conditions

Figure 1 Nucleotide sequence of a fragment of exon 2 of the PTEN gene containing the variant (arrow). (A) Wild-type sequence. (B) Heterozygous mutation N48K. Journal of Investigative Dermatology 2003 121, 1356-1359DOI: (10.1111/j.1523-1747.2003.12638.x) Copyright © 2003 The Society for Investigative Dermatology, Inc Terms and Conditions

Figure 2 PTEN protein inter and intra specific homologies. (A) PTEN phosphatase domain amino acid sequence homology across species. Sequence homologies are underlined. Aspargine at codon 48 is indicated with a verticle rectangle. In C. elegans an insertion is indicated with a line and the amino acid letter. (B) Phosphatase domain amino acid sequence homology between human PTEN and human phosphatases TPTE and TPIP. Codon 48 is indicated with an arrow. Journal of Investigative Dermatology 2003 121, 1356-1359DOI: (10.1111/j.1523-1747.2003.12638.x) Copyright © 2003 The Society for Investigative Dermatology, Inc Terms and Conditions

Figure 3 Phospho-active PKB/Akt in the presence of PTEN wild-type or mutations. U87MG cells were transfected with pSG5 HA-PKB/Akt plus pRK5 vector alone (mock) or pRK5 PTEN wild-type (w.t.) or mutations, as indicated. In lanes 5–8, pEF-BOS-Ras V12 was cotransfected. After 48 h, cells were lyzed and HA-PKB/Akt was immunoprecipitated with the anti-HA 12CA5 monoclonal antibody, followed by immunoblotting with the antiphospho-PKB (Ser473) antibody (middle panel). After stripping of the membrane, immunoblotting with anti-PKB/Akt was performed (lower panel). In the upper panel, 50 μg of total cell lysate were loaded and subjected to immunoblotting with anti-PTEN antibody. Journal of Investigative Dermatology 2003 121, 1356-1359DOI: (10.1111/j.1523-1747.2003.12638.x) Copyright © 2003 The Society for Investigative Dermatology, Inc Terms and Conditions