Linkage of familial hemophagocytic lymphohistiocytosis (FHL) type-4 to chromosome 6q24 and identification of mutations in syntaxin 11
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References (41)
Cleavage of Structural Proteins during the Assembly of the Head of Bacteriophage T4
1970 • 253,849 citations
A Rapid and Sensitive Method for the Quantitation of Microgram Quantities of Protein Utilizing the Principle of Protein-Dye Binding
1976 • 225,752 citations
Strategies for multilocus linkage analysis in humans.
1984 • 2,600 citations
Perforin Gene Defects in Familial Hemophagocytic Lymphohistiocytosis
1999 • 1,212 citations
Descent graphs in pedigree analysis: applications to haplotyping, location scores, and marker-sharing statistics.
1996 • 1,201 citations
SNARE-mediated membrane fusion
2001 • 1,121 citations
Comprehensive Human Genetic Maps: Individual and Sex-Specific Variation in Recombination
1998 • 1,092 citations
Lymphocyte-Mediated Cytotoxicity
2002 • 1,079 citations
Dendritic cells directly trigger NK cell functions: Cross-talk relevant in innate anti-tumor immune responses in vivo
1999 • 1,066 citations
Mutations in RAB27A cause Griscelli syndrome associated with haemophagocytic syndrome
2000 • 935 citations
Munc13-4 Is Essential for Cytolytic Granules Fusion and Is Mutated in a Form of Familial Hemophagocytic Lymphohistiocytosis (FHL3)
2003 • 905 citations
Treatment of hemophagocytic lymphohistiocytosis with HLH-94 immunochemotherapy and bone marrow transplantation
2002 • 836 citations
Diagnostic guidelines for hemophagocytic lymphohistiocytosis. The FHL Study Group of the Histiocyte Society.
1991 • 767 citations
Implications of the SNARE hypothesis for intracellular membrane topology and dynamics
1994 • 582 citations
Familial hemophagocytic lymphohistiocytosis
1983 • 567 citations
Linking Albinism and Immunity: The Secrets of Secretory Lysosomes
2004 • 361 citations
Identification of a Novel Syntaxin- and Synaptobrevin/VAMP-binding Protein, SNAP-23, Expressed in Non-neuronal Tissues
1996 • 356 citations
Granzyme B: a natural born killer
2003 • 276 citations
Spectrum of Perforin Gene Mutations in Familial Hemophagocytic Lymphohistiocytosis
2001 • 253 citations
Perforin expression in cytotoxic lymphocytes from patients with hemophagocytic lymphohistiocytosis and their family members
2002 • 244 citations
Modern management of children with haemophagocytic lymphohistiocytosis
2003 • 235 citations
Pathogenesis of haemophagocytic lymphohistiocytosis
2001 • 223 citations
Localization of a Gene for Familial Hemophagocytic Lymphohistiocytosis at Chromosome 9q21.3-22 by Homozygosity Mapping
1999 • 216 citations
Treatment of familial hemophagocytic lymphohistiocytosis with antithymocyte globulins, steroids, and cyclosporin A
1993 • 165 citations
Linkage of Familial Hemophagocytic Lymphohistiocytosis to 10q21-22 and Evidence for Heterogeneity
1999 • 146 citations
Enhancement of Human Cord Blood CD34+ Cell-Derived NK Cell Cytotoxicity by Dendritic Cells
2001 • 145 citations
Functional consequences of perforin gene mutations in 22 patients with familial haemophagocytic lymphohistiocytosis
2002 • 145 citations
Syntaxin 11 is associated with SNAP-23 on late endosomes and the trans-Golgi network
1999 • 116 citations
Identification of mutations in two major mRNA isoforms of the Chediak- Higashi syndrome gene in human and mouse
1997 • 103 citations
SNARE Complex Structure and Function
2001 • 93 citations
Improved outcome in haemophagocytic lymphohistiocytosis after bone marrow transplantation from related and unrelated donors: a single‐centre experience of 12 patients
1999 • 90 citations
Perforin defects of primary haemophagocytic lymphohistiocytosis in Japan
2002 • 77 citations
Syntaxin 11 is an atypical SNARE abundant in the immune system
2000 • 76 citations
Familial Hemophagocytic Lymphohistiocytosis: Clinical Review Based on the Findings in Seven Children
1991 • 66 citations
Syntaxin 11: A Member of the Syntaxin Family without a Carboxyl Terminal Transmembrane Domain
1998 • 58 citations
Differential expression and regulation of GTPases (RhoA and Rac2) and GDIs (LyGDI and RhoGDI) in neutrophils from patients with severe congenital neutropenia
2000 • 36 citations
Natural Killer Deficiency: A Minor or Major Factor in the Manifestation of Hemophagocytic Lymphohistiocytosis?
2003 • 21 citations
Perforin defects of primary haemophagocytic lymphohistiocytosis in Japan
2004 • 13 citations
Cytosolic proteins from neutrophilic granulocytes: A comparison between patients with severe chronic neutropenia and healthy donors
1997 • 10 citations
Identification and characterisation of clonal incomplete T-cell-receptor Vδ2–Dδ3/Dδ2-Dδ3 rearrangements by denaturing high-performance liquid chromatography and subsequent fragment collection: implications for minimal residual disease monitoring in childhood acute lymphoblastic leukemia
2003 • 8 citations
Rapid LightCycler assay for identification of the Perforin codon 374 Trp → stop mutation in patients and families with hemophagocytic lymphohistiocytosis (HLH)
2003 • 5 citations