Mutations of the Wiskott-Aldrich Syndrome Protein (WASP): hotspots, effect on transcription, and translation and phenotype/genotype correlation by Yinzhu.

Slides:

Advertisements

Similar presentations

Review of Protein Synthesis. Fig TRANSCRIPTION TRANSLATION DNA mRNA Ribosome Polypeptide (a) Bacterial cell Nuclear envelope TRANSCRIPTION RNA PROCESSING.

Advertisements

Detection of antibody-mediated reduction of annexin A5 anticoagulant activity in plasmas of patients with the antiphospholipid syndrome by Jacob H. Rand,

Protein Synthesis. One Gene – One Enzyme Protein Synthesis.

Beyond the increasing complexity of the immunomodulatory HLA-G molecule by Edgardo D. Carosella, Benoit Favier, Nathalie Rouas-Freiss, Philippe Moreau,

TCR-MHC-peptide(s): in vivo veritas

by Nancy D. Borson, Martha Q. Lacy, and Peter J. Wettstein

by Taizo Wada, Shepherd H. Schurman, G

Mutations of Chk2 in primary hematopoietic neoplasms

Follicular lymphoma with a novel t(14;18) breakpoint involving the immunoglobulin heavy chain switch mu region indicates an origin from germinal center.

Incidence and prognostic relevance of genetic variations in T-cell lymphoblastic lymphoma in childhood and adolescence by Bettina R. Bonn, Marius Rohde,

COX-1 and known variants.

Rapid Identification Of Compound Mutations In Patients With Ph-Positive Leukemias By Long-Range Next Generation Sequencing by Sandra Preuner, Renate Kastner,

Wiskott-Aldrich Syndrome/X-Linked Thrombocytopenia: WASP Gene Mutations, Protein Expression, and Phenotype by Qili Zhu, Chiaki Watanabe, Ting Liu, Diane.

Important port for SHIP-1 at Dok-3

by Mario Cazzola, Marianna Rossi, and Luca Malcovati

Phosphorylation and sequence disorder in microtubule-associated protein Tau.A, schematic illustration of the domain profile of Tau with all known phosphorylation.

Missense mutations in TNXB as a cause of VUR

Mutation Analysis of the Rearranged Immunoglobulin Heavy Chain Genes of Marginal Zone Cell Lymphomas Indicates an Origin From Different Marginal Zone B.

Jacek Majewski The American Journal of Human Genetics

by Wen-feng Xu, Zhi-wei Xie, Dominic W. Chung, and Earl W. Davie

Schematic representations of DGKE protein and mRNA illustrating the relative positions of all pathogenic mutations reported to date. Schematic representations.

Wanlong Ma, Hagop Kantarjian, Xi Zhang, Chen-Hsiung Yeh, Zhong J

by Fawwaz Yassin, Sheldon P. Rothenberg, Sreedhar Rao, Marilyn M

Deficiency of the ADP-Forming Succinyl-CoA Synthase Activity Is Associated with Encephalomyopathy and Mitochondrial DNA Depletion Orly Elpeleg, Chaya.

AML1/RUNX1 mutations in 470 adult patients with de novo acute myeloid leukemia: prognostic implication and interaction with other gene alterations by Jih-Luh.

The murine platelet and plasma factor V pools are biosynthetically distinct and sufficient for minimal hemostasis by Hongmin Sun, Tony L. Yang, Angela.

by Bartlomiej Przychodzen, Andres Jerez, Kathryn Guinta, Mikkael A

Figure 3 The genomic organization and protein architecture of OCRL

by David M. Weinstock, Beth Elliott, and Maria Jasin

Activation of multiple cryptic donor splice sites by the common congenital afibrinogenemia mutation, FGA IVS4 + 1 G→T by Catia Attanasio, Philippe de Moerloose,

Expression profiling of snoRNAs in normal hematopoiesis and AML

High incidence of somatic mutations in the AML1/RUNX1 gene in myelodysplastic syndrome and low blast percentage myeloid leukemia with myelodysplasia by.

Down Syndrome and Malignancies: A Unique Clinical Relationship

Jacquelyn Bond, Sheila Scott, Daniel J

Relationship between Genotype and Phenotype

Partial V(D)J Recombination Activity Leads to Omenn Syndrome

Figure 1 Prediction of pathogenicity and protein localization of SBF1 mutations Prediction of pathogenicity and protein localization of SBF1 mutations.

Progress in Molecular Genetics of Heritable Skin Diseases: The Paradigms of Epidermolysis Bullosa and Pseudoxanthoma Elasticum Jouni Uitto, Leena Pulkkinen,

The Wiskott-Aldrich syndrome

RASopathy Gene Mutations in Melanoma

Mutations in a Gene Encoding a Novel Protein Containing a Phosphotyrosine-Binding Domain Cause Type 2 Cerebral Cavernous Malformations Christina L. Liquori,

HLA and Pregnancy: The Paradox of the Fetal Allograft

by Anant A. Agrawal, Michael Seiler, Lindsey T

De Novo Mutations in the Sodium-Channel Gene SCN1A Cause Severe Myoclonic Epilepsy of Infancy Lieve Claes, Jurgen Del-Favero, Berten Ceulemans, Lieven.

A peptide derived from the Wiskott-Aldrich syndrome (WAS) protein-interacting protein (WIP) restores WAS protein level and actin cytoskeleton reorganization.

A Comprehensive Analysis Reveals Mutational Spectra and Common Alleles in Chinese Patients with Oculocutaneous Albinism Aihua Wei, Yu Wang, Yan Long,

The effect of 5α-reductase-2 deficiency on human fertility

Splitting p63 The American Journal of Human Genetics

Genome-wide binding sites of OsMADS1 and the distribution of binding sites in different regions of annotated genes. Genome-wide binding sites of OsMADS1.

Ataxia with Isolated Vitamin E Deficiency: Heterogeneity of Mutations and Phenotypic Variability in a Large Number of Families Laurent Cavalier, Karim.

Novel Truncating Mutations in the Polyglutamine Tract Binding Protein 1 Gene (PQBP1) Cause Renpenning Syndrome and X-Linked Mental Retardation in Another.

Accurate, simple, and inexpensive assays to diagnose F8 gene inversion mutations in hemophilia A patients and carriers by Debargh Dutta, Devi Gunasekera,

The Gene Mutated in Variant Late-Infantile Neuronal Ceroid Lipofuscinosis (CLN6) and in nclf Mutant Mice Encodes a Novel Predicted Transmembrane Protein

Spectrum of Mutations in the RPGR Gene That Are Identified in 20% of Families with X- Linked Retinitis Pigmentosa Monika Buraczynska, Weiping Wu, Ricardo.

Mutation in pycr1a exon 3 disrupts predicted exonic splicing enhancers

The sh339 and qmc554 alleles of gfi1b.

(A) yellow cDNA comparison among wild-type and ch mutants

Figure 1 Schematic representation of FOXG1 gene, protein domain structure, and positions of FOXG1 mutations Schematic representation of FOXG1 gene, protein.

Novel presentation of Omenn syndrome in association with aniridia

A Second Leaky Splice-Site Mutation in the Spastin Gene

Mutations in CHEK2 Associated with Prostate Cancer Risk

Genetic Features of Chinese Patients with Gitelman Syndrome:

Germline deletion of ETV6 in familial acute lymphoblastic leukemia

Intragenic telSMN Mutations: Frequency, Distribution, Evidence of a Founder Effect, and Modification of the Spinal Muscular Atrophy Phenotype by cenSMN.

X-linked thrombocytopenia identified by flow cytometric demonstration of defective Wiskott-Aldrich syndrome protein in lymphocytes by Hirokazu Kanegane,

Biology and treatment of Richter syndrome

by Honglin Chen, Paul Smith, Richard F. Ambinder, and S. Diane Hayward

Location of common clinically relevant mutations in EGFR

Gene editing in hemophilia: a “CRISPR” choice?

BRCA1 protein functional domains and predicted frameshift and premature truncation. BRCA1 protein functional domains and predicted frameshift and premature.

Presentation transcript:

Mutations of the Wiskott-Aldrich Syndrome Protein (WASP): hotspots, effect on transcription, and translation and phenotype/genotype correlation by Yinzhu Jin, Cinzia Mazza, Jacinda R. Christie, Silvia Giliani, Maurilia Fiorini, Patrizia Mella, Francesca Gandellini, Donn M. Stewart, Qili Zhu, David L. Nelson, Luigi D. Notarangelo, and Hans D. Ochs Blood Volume 104(13):4010-4019 December 15, 2004 ©2004 by American Society of Hematology

A schematic illustration of WASP representing the 12 exons and the major functional domains. A schematic illustration of WASP representing the 12 exons and the major functional domains. The mutations of WASP listed in Table 1 are visualized according to their location in the exons and the exon/intron junctions. Each symbol represents a single family with a WASP mutation. Missense mutations are located mostly in exons 1 to 4; deletions and insertions are distributed throughout the WASP gene, and splice site mutations are found predominantly in introns 6, 8, 9, and 10. PH indicates pleckstrin hemology; WH1, WAS homology 1; GBD, GTPase binding domain; VD, verprolin homology domain; and CD, cofilin homology domain. Yinzhu Jin et al. Blood 2004;104:4010-4019 ©2004 by American Society of Hematology