The ribosomal basis of diamond-blackfan anemia: mutation and database update

Ilenia Boria, Emanuela Garelli, Hanna T. Gazda, +26

Human Mutation

GeneticsGenetic EpidemiologyMolecular BiologyMolecular GeneticsDisease Gene Identification +14

Decreased B cell activating factor receptor expression on peripheral lymphocytes associated with increased disease activity in primary Sjögren's syndrome and systemic lupus erythematosus

Jérémie Sellam, Corinne Miceli‐Richard, J.-E. Gottenberg, +7

Annals of the Rheumatic Diseases

Clinical and molecular variability in congenital dyserythropoietic anaemia type I

Hannah Tamary, Orly Dgany, Alexis Proust, +14

British Journal of Haematology

Different impacts of alleles <i>α</i>^<i>LEPRA</i> and <i>α</i>^<i>LELY</i> as assessed <i>versus</i> a novel, virtually null allele of the <i>SPTA1</i> gene in <i>trans</i>

J. Delaunay, V. Nouyrigat, Alexis Proust, +6

British Journal of Haematology

No evidence for an association between the -871 T/C promoter polymorphism in the B-cell-activating factor gene and primary Sjögren's syndrome

Jacques‐Eric Gottenberg, Jérémie Sellam, Marc Ittah, +8

Arthritis Research & Therapy

No evidence for association between 1858 C/T single-nucleotide polymorphism of PTPN22 gene and primary Sjögren's syndrome

Marc Ittah, J.E. Gottenberg, Alexis Proust, +5

Genes and Immunity

RheumatologyAutoimmune DiseaseSjögren’s SyndromeC/t Single-nucleotide PolymorphismGenetic Disorder +10

Enhanced modifications of low-density lipoproteins (LDL) by endothelial cells from smokers: a possible mechanism of smoking-related atherosclerosis

Marie-Agnès Pech-amsellem, I. Myara, Marianne Storogenko, +3

Cardiovascular Research

Ten novel Diamond–Blackfan anemia mutations and three polymorphisms within the rps19 gene

Alexis Proust, Lydie Da Costa, Patricia Rincé, +5

The Hematology Journal

Rps19 GeneGenetic DisorderGeneticsHematologyMolecular Biology +4

Default in plasma and intestinal IgA responses during acute infection by simian immunodeficiency virus

Nada Chaoul, Chantal Burelout, Sandrine Péruchon, +8

Retrovirology

Occurrence of Aortic Aneurysms in 5 Cases of Wiskott-Aldrich Syndrome

Isabelle Pellier, Sophie Dupuis‐Girod, D. Loisel, +10

PEDIATRICS

Aneurysm 15Aortic DiseasesAortic AneurysmsAortic AneurysmWiskott-aldrich Syndrome +1