Autosomal dominant erythrocytosis and pulmonary arterial hypertension associated with an activating HIF2α mutation by Daniel P. Gale, Sarah K. Harten,

Slides:

Advertisements

Similar presentations

Evidence for Autosomal Dominant Inheritance of Prostate Cancer

Advertisements

Exome Sequencing and Systems Biology Converge to Identify Novel Mutations in the L-Type Calcium Channel, CACNA1C, Linked to Autosomal Dominant Long QT.

Pulse Pressure and Resistance Artery Structure in the Elderly

Evidence for the involvement of a hematopoietic progenitor cell in systemic mastocytosis from single-cell analysis of mutations in the c-kit gene by A.

by Masako Moriuchi, Hiroyuki Moriuchi, and Anthony S. Fauci

Implications of somatic mutations in the AML1 gene in radiation-associated and therapy-related myelodysplastic syndrome/acute myeloid leukemia by Hironori.

Alternative Splicing of a Novel Glycophorin Allele GPHe(GL) Generates Two Protein Isoforms in the Human Erythrocyte Membrane by Cheng-Han Huang, Olga O.

Next-generation leukemia immunotherapy

VWF mutations and new sequence variations identified in healthy controls are more frequent in the African-American population by Daniel B. Bellissimo,

Mutations of Chk2 in primary hematopoietic neoplasms

Analysis of expressed immunoglobulin heavy chain genes in familial B-CLL by Akira Sakai, Gerald E. Marti, Neil Caporaso, Stefania Pittaluga, Jeffrey W.

by David W. Bahler, John A. Miklos, and Steven H. Swerdlow

Novel PMS2 Pseudogenes Can Conceal Recessive Mutations Causing a Distinctive Childhood Cancer Syndrome Michel De Vos, Bruce E. Hayward, Susan Picton,

A Clinical Evaluation of the International Lymphoma Study Group Classification of Non-Hodgkin's Lymphoma Blood Volume 89(11): June 1, 1997 ©1997.

The V410I (G1228A) variant of the caspase-10 gene is a common polymorphism in the Danish population by Kirsten Grønbæk, Tine Dalby, Jesper Zeuthen, Elisabeth.

binding sites 58 of the 473 unambiguously assigned phosphorylation sites are predicted by Scansite to be sites for binding. 50 of these correspond.

Nat. Rev. Cardiol. doi: /nrcardio

A Naturally Occurring Mutation in FcγRIIA: A Q to K127 Change Confers Unique IgG Binding Properties to the R131 Allelic Form of the Receptor by Cynthia.

A novel polymorphism of the human CD40 receptor with enhanced function

Generation of enhanced stability factor VIII variants by replacement of charged residues at the A2 domain interface by Hironao Wakabayashi, Fatbardha Varfaj,

Fusion genes in cord blood

GWLSs in a family with hereditary VUR

A Common Genetic Polymorphism (46 C to T Substitution) in the 5′-Untranslated Region of the Coagulation Factor XII Gene Is Associated With Low Translation.

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

The presence of an RHD pseudogene containing a 37 base pair duplication and a nonsense mutation in Africans with the Rh D-negative blood group phenotype.

Regulation of expression of murine transferrin receptor 2

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

Erythropoietin Receptor Mutations Associated With Familial Erythrocytosis Cause Hypersensitivity to Erythropoietin in the Heterozygous State by Stephanie.

Red cell adenylate kinase deficiency: molecular study of 3 new mutations (118G>A, 190G>A, and GAC deletion) associated with hereditary nonspherocytic hemolytic.

Mutation of IGFBP7 Causes Upregulation of BRAF/MEK/ERK Pathway and Familial Retinal Arterial Macroaneurysms Leen Abu-Safieh, Emad B. Abboud, Hisham Alkuraya,

Use of Homozygosity Mapping to Identify a Region on Chromosome 1 Bearing a Defective Gene That Causes Autosomal Recessive Homozygous Hypercholesterolemia.

Oxygen-dependent ATF-4 stability is mediated by the PHD3 oxygen sensor

VWF sequence variants: innocent until proven guilty

Dual-Luciferase Activation Assay with Potential Targets of ZmbZIP22.

EP4 promoter activity is induced by sulindac sulfide in T98G cells.

Human NK cells can control CMV infection in the absence of T cells

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

Identification of a specific intronic PEAR1 gene variant associated with greater platelet aggregability and protein expression by Nauder Faraday, Lisa.

Jacquelyn Bond, Sheila Scott, Daniel J

Evidence for Sex-Specific Risk Alleles in Autism Spectrum Disorder

Female Infertility Caused by Mutations in the Oocyte-Specific Translational Repressor PATL2 Sateesh Maddirevula, Serdar Coskun, Saad Alhassan, Atif Elnour,

GCM2-Activating Mutations in Familial Isolated Hyperparathyroidism

Danielle Posthuma, Michelle Luciano, Eco J. C. de Geus, Margie J

Figure 1 Dominant and recessive missense and nonsense variants in neurofilament light (NEFL)‏ Dominant and recessive missense and nonsense variants in.

Figure 2 Linkage analysis of chromosome 19

A Nonsense Mutation in CRYBB1 Associated with Autosomal Dominant Cataract Linked to Human Chromosome 22q Donna S. Mackay, Olivera B. Boskovska, Harry.

Airong Li, Sonia Davila, Laszlo Furu, Qi Qian, Xin Tian, Patrick S

Mutation of Solute Carrier SLC16A12 Associates with a Syndrome Combining Juvenile Cataract with Microcornea and Renal Glucosuria Barbara Kloeckener-Gruissem,

Christina A. Gurnett, Farhang Alaee, Lisa M. Kruse, David M

Exome Sequencing Identifies Autosomal-Dominant SRP72 Mutations Associated with Familial Aplasia and Myelodysplasia Michael Kirwan, Amanda J. Walne, Vincent.

A Mutation in the Variable Repeat Region of the Aggrecan Gene (AGC1) Causes a Form of Spondyloepiphyseal Dysplasia Associated with Severe, Premature.

Exome Sequencing Identifies a DYNC1H1 Mutation in a Large Pedigree with Dominant Axonal Charcot-Marie-Tooth Disease Michael N. Weedon, Robert Hastings,

Novel PMS2 Pseudogenes Can Conceal Recessive Mutations Causing a Distinctive Childhood Cancer Syndrome Michel De Vos, Bruce E. Hayward, Susan Picton,

Physical Exercise–Induced Hypoglycemia Caused by Failed Silencing of Monocarboxylate Transporter 1 in Pancreatic β Cells Timo Otonkoski, Hong Jiao, Nina.

Analysis of GFP expression in gfp loss-of-function mutants.

A Unique Point Mutation in the PMP22 Gene Is Associated with Charcot-Marie-Tooth Disease and Deafness Margaret J. Kovach, Jing-Ping Lin, Simeon Boyadjiev,

Defective RAB1B-related megakaryocytic ER-to-Golgi transport in RUNX1 haplodeficiency: impact on von Willebrand factor by Gauthami Jalagadugula, Lawrence.

Constitutional Mutations of the hSNF5/INI1 Gene Predispose to a Variety of Cancers Nicolas Sévenet, Eammon Sheridan, Daniel Amram, Pascale Schneider,

Genome-wide linkage analysis to age at natural menopause in a community-based sample: the Framingham Heart Study Joanne M. Murabito, M.D. Sc.M., Qiong.

A Gene for an Autosomal Dominant Scleroatrophic Syndrome Predisposing to Skin Cancer (Huriez Syndrome) Maps to Chromosome 4q23 Young-Ae Lee, Howard P.

The Tumor-Necrosis-Factor Receptor–Associated Periodic Syndrome: New Mutations in TNFRSF1A, Ancestral Origins, Genotype-Phenotype Studies, and Evidence.

Interaction between the G6PC2 rs G and rs G alleles on G6PC2 promoter activity. βTC-3 cells were transiently cotransfected, as described.

C. Denier, S. Goutagny, P. Labauge, V. Krivosic, M Arnoult, A

Evidence for Autosomal Dominant Inheritance of Prostate Cancer

T-VISA is robust in ovarian cancer cell lines.

The ITGAL promoter is methylated in fibroblasts but not T cells

Next-Generation Sequencing of a 40 Mb Linkage Interval Reveals TSPAN12 Mutations in Patients with Familial Exudative Vitreoretinopathy Konstantinos Nikopoulos,

Schematic representations of pulmonary hypertension.

A Novel Risk Assessment Model to Predict Venous Thromboembolism (VTE) in Cancer Inpatients: The Canclot Score by Dana E. Angelini, M. Todd Greene, Julie.

Data normalization process.

Presentation transcript:

Autosomal dominant erythrocytosis and pulmonary arterial hypertension associated with an activating HIF2α mutation by Daniel P. Gale, Sarah K. Harten, Cecil D. L. Reid, Edward G. D. Tuddenham, and Patrick H. Maxwell Blood Volume 112(3):919-921 August 1, 2008 ©2008 by American Society of Hematology

Data and findings for selected family members. Data and findings for selected family members. (A) Family tree. (B) Hematological parameters in selected family members. I-2 was diagnosed with “heart failure” at age 62; echocardiography was not available. *Not contemporaneous measurements. – indicates data not available. (C) Genome-wide linkage to autosomal dominant erythrocytosis. (D) Parametric LOD score at region circled in red in panel C. (E) Sequencing trace of showing G/A heterozygosity at base 2097, predicting a change from glycine to arginine at residue 537, 6 codons from critical hydroxyl acceptor proline (underlined). (F) HRE-Firefly:Renilla luciferase activity following cotransfection of a plasmid containing the coding sequence of HIF2α with or without mutations shown. Results shown are means plus or minus SD of 3 independent experiments, each performed in triplicate. Daniel P. Gale et al. Blood 2008;112:919-921 ©2008 by American Society of Hematology