Search Results - "Wajcman, Henri"
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Updates of the HbVar database of human hemoglobin variants and thalassemia mutations
Published in Nucleic acids research (01-01-2014)“…HbVar (http://globin.bx.psu.edu/hbvar) is one of the oldest and most appreciated locus-specific databases launched in 2001 by a multi-center academic effort to…”
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Ex vivo generation of fully mature human red blood cells from hematopoietic stem cells
Published in Nature biotechnology (01-01-2005)“…We describe here the large-scale ex vivo production of mature human red blood cells (RBCs) from hematopoietic stem cells of diverse origins. By mimicking the…”
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HbVar database of human hemoglobin variants and thalassemia mutations: 2007 update
Published in Human mutation (01-02-2007)“…HbVar (http://globin.bx.psu.edu/hbvar) is a locus‐specific database (LSDB) developed in 2001 by a multi‐center academic effort to provide timely information on…”
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Role of α-globin H helix in the building of tetrameric human hemoglobin: interaction with α-hemoglobin stabilizing protein (AHSP) and heme molecule
Published in PloS one (04-11-2014)“…Alpha-Hemoglobin Stabilizing Protein (AHSP) binds to α-hemoglobin (α-Hb) or α-globin and maintains it in a soluble state until its association with the β-Hb…”
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Structure and function evolution in the superfamily of globins
Published in Comptes rendus. Biologies (01-02-2009)“…The superfamily of globins has emerged some 4000 Myr from a common ancestor, which was among the basic protein components required for life. Globins are…”
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HbVar: A relational database of human hemoglobin variants and thalassemia mutations at the globin gene server
Published in Human mutation (01-03-2002)“…We have constructed a relational database of hemoglobin variants and thalassemia mutations, called HbVar, which can be accessed on the web at…”
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A study of 36 unrelated cases with pure erythrocytosis revealed three new mutations in the erythropoietin receptor gene
Published in Haematologica (Roma) (01-07-2008)“…1 INSERM, U841, Créteil 2 Service de Biochimie et Génétique, AP-HP, Groupe Henri Mondor, Albert Chenevier, Créteil 3 Unité de Génétique du Globules Rouges,…”
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Characterization of V36C, a Novel Amino Acid Substitution Conferring Hepatitis C Virus (HCV) Resistance to Telaprevir, a Potent Peptidomimetic Inhibitor of HCV Protease
Published in Antimicrobial Agents and Chemotherapy (01-06-2010)“…Classifications Services AAC Citing Articles Google Scholar PubMed Related Content Social Bookmarking CiteULike Delicious Digg Facebook Google+ Mendeley Reddit…”
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Interaction Between Unstable Hemoglobins and Thalassemias
Published in Hemoglobin (02-11-2019)Get full text
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Unstable Alpha Hemoglobin Stabilizing Protein as a Cause of Thalassemia: Proof of Concept
Published in Blood (20-11-2009)“…Abstract 462 Alpha hemoglobin stabilizing protein (AHSP), a small 102-residue protein previously known as erythroid differentiation-related factor (EDRF), is…”
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Chronic hemolytic anemia due to novel α-globin chain variants: critical location of the mutation within the gene sequence for a dominant effect
Published in Haematologica (Roma) (01-11-2009)Get full text
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Pyruvate Kinase (PK) Deficiency in Newborns: The Pitfalls of Diagnosis
Published in The Journal of pediatrics (01-04-2007)“…Pyruvate kinase (PK) deficiency is asymptomatic in heterozygotes, but it can lead in homozygous neonates to a severe neonatal hemolysis, sometimes…”
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Cation-exchange HPLC evaluated for presumptive identification of hemoglobin variants
Published in Clinical chemistry (Baltimore, Md.) (01-01-1997)“…A battery of relatively simple tests allows the presumptive identification of hemoglobin (Hb) variants, making unnecessary structural analysis by protein…”
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Quaternary Structure Sensitive Tyrosine Residues in Human Hemoglobin: UV Resonance Raman Studies of Mutants at α140, β35, and β145 Tyrosine
Published in Biochemistry (Easton) (26-01-1999)“…Recent studies noted the contribution of α42Tyr to the T−R-dependent UV resonance Raman (UVRR) spectral changes of HbA [Nagai, M., et al. (1996) J. Mol…”
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Clinically relevant updates of the HbVar database of human hemoglobin variants and thalassemia mutations
Published in Nucleic acids research (08-01-2021)“…Abstract HbVar (http://globin.bx.psu.edu/hbvar) is a widely-used locus-specific database (LSDB) launched 20 years ago by a multi-center academic effort to…”
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Pitfalls in the biological diagnosis of common hemoglobin disorders
Published in Annales de biologie clinique (Paris) (01-09-2015)“…In West-European countries, hemoglobin disorders are no more rare diseases. Programs for diagnosis of heterozygous carriers have been established to prevent…”
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Precision of CAPILLARYS 2 for the Detection of Hemoglobin Variants Based on Their Migration Positions
Published in American journal of clinical pathology (29-01-2018)“…Abstract Objectives In this report, we evaluated utility of the capillary electrophoresis (CE) migration position of the CAPILLARYS 2 CE instrument. Methods…”
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Globin chain analysis: An important tool in phenotype study of hemoglobin disorders
Published in Clinical biochemistry (01-12-2009)“…Phenotype studies still occupy a key position in the diagnosis of hemoglobin (Hb) disorders. An additional dimension to the methods for diagnosis of Hb…”
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