Yayıncı "Amer Soc Hematology" Dahili Tıp Bilimleri Bölümü için listeleme
Toplam kayıt 10, listelenen: 1-10
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A Complex Splicing Defect Associated With Homozygous Ankyrin-Deficient Hereditary Spherocytosis
(Amer Soc Hematology, 2007)Defects in erythrocyte ankyrin are the most common cause of typical, dominant hereditary spherocytosis (HS). Detection of ankyrin gene mutations has been complicated by allelic heterogeneity, large gene size, frequent de ... -
Comparison Of Primary Human Cytotoxic T-Cell And Natural Killer Cell Responses Reveal Similar Molecular Requirements For Lytic Granule Exocytosis But Differences In Cytokine Production
(Amer Soc Hematology, 2013)Cytotoxic lymphocytes, encompassing cytotoxic T lymphocytes (CTLs) and natural killer (NK) cells, kill pathogen-infected, neoplastic, or certain hematopoietic cells through the release of perforin-containing lytic granules. ... -
Gray Platelet Syndrome: Natural History Of A Large Patient Cohort And Locus Assignment To Chromosome 3P
(Amer Soc Hematology, 2010)Gray platelet syndrome (GPS) is an inherited bleeding disorder characterized by macrothrombocytopenia and absence of platelet alpha-granules resulting in typical gray platelets on peripheral smears. GPS is associated with ... -
Human Bone Marrow Megakaryocytes And Platelets Express Ppar Gamma, And Ppar Gamma Agonists Blunt Platelet Release Of Cd40 Ligand And Thromboxanes
(Amer Soc Hematology, 2004)Peroxisome proliferator-activated receptor gamma (PPARgamma) is a ligand-activated transcription factor important in lipid metabolism, diabetes, and inflammation. We evaluated whether human platelets and megakaryocytes ... -
Lad-1/Variant Syndrome Is Caused by Mutations in Fermt3
(Amer Soc Hematology, 2009)Leukocyte adhesion deficiency-1/variant (LAD1v) syndrome presents early in life and manifests by infections without pus formation in the presence of a leukocytosis combined with a Glanzmann-type bleeding disorder, resulting ... -
Molecular And Clinical Spectrum Of Type I Plasminogen Deficiency: A Series Of 50 Patients
(Amer Soc Hematology, 2006)Severe type I plasminogen (PLG) deficiency has been causally linked to a rare chronic inflammatory disease of the mucous membranes that may be life threatening. Here we report clinical manifestations, PLG plasma levels, ... -
Natural History And Early Diagnosis Of Lad-1/Variant Syndrome
(Amer Soc Hematology, 2007)The syndrome of leukocyte adhesion deficiency (LAD) combined with a severe Glanzmann-type bleeding disorder has been recognized as a separate disease entity. The variability in clinical and cell biological terms has remained ... -
Novel Hax1 Mutations In Patients With Severe Congenital Neutropenia Reveal Isoform-Dependent Genotype-Phenotype Associations
(Amer Soc Hematology, 2008)Homozygous mutations in HAX1 cause an autosomal recessive form of severe congenital neutropenia (CN). By screening 88 patients with CN, we identified 6 additional patients with HAX1 mutations carrying 4 novel mutations. ... -
The Mutational Spectrum Of Ptpn11 In Juvenile Myelomonocytic Leukemia And Noonan Syndrome/Myeloproliferative Disease
(Amer Soc Hematology, 2005)Germ line PTPN11 mutations cause 50% of cases of Noonan syndrome (NS). Somatic mutations in PTPN11 occur in 35% of patients with de novo, nonsyndromic juvenile myelomonocytic leukemia (JIMML). Myeloproliferative disorders ... -
Update On The Safety And Efficacy Of Retroviral Gene Therapy For Immunodeficiency Due To Adenosine Deaminase Deficiency
(Amer Soc Hematology, 2016)Adenosine deaminase (ADA) deficiency is a rare, autosomal-recessive systemic metabolic disease characterized by severe combined immunodeficiency (SCID). The treatment of choice for ADA-deficient SCID (ADA-SCID) is hematopoietic ...
