The PAX5 gene: a linkage and mutation analysis in candidate human primary immunodeficiencies

No abstract is available for this paper.

• Publication year

  2004

• Venue

  Immunogenetics

• Publication date

  Unknown publication date

• Fields of study

  Biology, Medicine

• Identifiers
  DOI 10.1007/BF00178590PMID 7607706
• External record

  Open on Semantic Scholar

• Source metadata

  Semantic Scholar, PubMed

• No claims are published for this paper.

• No concepts are published for this paper.

• DNA-based mutation analysis of Bruton's tyrosine kinase gene in patients with X-linked agammaglobulinaemia.

  1995cited by this paper
• Identification of Btk mutations in 20 unrelated patients with X-linked agammaglobulinaemia (XLA).

  1995cited by this paper
• Improved oligonucleotide primer set for molecular diagnosis of X-linked agammaglobulinaemia: predominance of amino acid substitutions in the catalytic domain of Bruton's tyrosine kinase.

  1995cited by this paper
• Familial resemblance for immunoglobulin levels

  1994cited by this paper
• SSCP/SacI polymorphism in the PAX5 gene.

  1994cited by this paper
• PAX genes.

  1994cited by this paper
• Mutation detection in the X-linked agammaglobulinemia gene, BTK, using single strand conformation polymorphism analysis.

  1994cited by this paper
• Long-term persistence of selective IgA deficiency in healthy adults

  1994cited by this paper
• Screening of genomic DNA to identify mutations in the gene for Bruton's tyrosine kinase.

  1994cited by this paper
• Genomic organization of the Btk gene and exon scanning for mutations in patients with X-linked agammaglobulinemia.

  1994cited by this paper
• Molecular analysis of IgA deficiency. Evidence for impaired switching to IgA.

  1994cited by this paper
• Complete block of early B cell differentiation and altered patterning of the posterior midbrain in mice lacking Pax5/BSAP.

  1994cited by this paper
• Expression of Bruton's agammaglobulinemia tyrosine kinase gene, BTK, is selectively down-regulated in T lymphocytes and plasma cells.

  1994cited by this paper
• Specific recognition of the blk promoter by the B-lymphoid transcription factor B-cell-specific activator protein.

  1994cited by this paper
• An intragenic TaqI RFLP at the PAX5 locus.

  1994cited by this paper
• The oncogenic potential of Pax genes.

  1993cited by this paper
• Molecular diagnosis of X-linked agammaglobulinaemia.

  1993cited by this paper
• NF-HB (BSAP) is a repressor of the murine immunoglobulin heavy-chain 3' alpha enhancer at early stages of B-cell differentiation

  1993cited by this paper
• Chromosomal localization of seven PAX genes and cloning of a novel family member, PAX-9

  1993cited by this paper
• The gene involved in X-linked agammaglobulinaemia is a member of the src family of protein-tyrosine kinases

  1993cited by this paper
• The gene involved in X-linked agammaglobulinaemia is a member of the src family of protein-tyrosine kinases

  1993cited by this paper
• The promoter of the CD19 gene is a target for the B-cell-specific transcription factor BSAP

  1992cited by this paper
• Waardenburg's syndrome patients have mutations in the human homologue of the Pax-3 paired box gene

  1992cited by this paper
• An exonic mutation in the HuP2 paired domain gene causes Waardenburg's syndrome

  1992cited by this paper
• Females with a disorder phenotypically identical to X-linked agammaglobulinemia

  1992cited by this paper
• A nuclear DNA-binding protein expressed during early stages of B cell differentiation interacts with diverse segments within and 3' of the Ig H chain gene cluster.

  1992cited by this paper
• The human PAX6 gene is mutated in two patients with aniridia

  1992cited by this paper
• Properties of B cell stage specific and ubiquitous nuclear factors binding to immunoglobulin heavy chain gene switch regions.

  1992cited by this paper
• Pax-5 encodes the transcription factor BSAP and is expressed in B lymphocytes, the developing CNS, and adult testis.

  1992cited by this paper
• Mouse Small eye results from mutations in a paired-like homeobox-containing gene

  1991cited by this paper
• Pax: a murine multigene family of paired box-containing genes.

  1991cited by this paper
• IgA deficiency.

  1991cited by this paper
• Splotch (Sp2H), a mutation affecting development of the mouse neural tube, shows a deletion within the paired homeodomain of Pax-3.

  1991cited by this paper
• A novel B-cell lineage-specific transcription factor present at early but not late stages of differentiation.

  1990cited by this paper
• A B-cell-specific nuclear protein that binds to DNA sites 5' to immunoglobulin S alpha tandem repeats is regulated during differentiation

  1989cited by this paper
• Computer-simulation methods in human linkage analysis.

  1989cited by this paper
• Analysis of affected sib pairs using information from extended families.

  1989cited by this paper
• undulated, a mutation affecting the development of the mouse skeleton, has a point mutation in the paired box of Pax 1.

  1988cited by this paper
• Multilocus linkage analysis in humans: detection of linkage and estimation of recombination.

  1985cited by this paper

• Microphthalmia, facial anomalies, microcephaly, thumb and hallux hypoplasia, and agammaglobulinemia.

  2001cites this paper
• A Syndrome Involving Intrauterine Growth Retardation, Microcephaly, Cerebellar Hypoplasia, B Lymphocyte Deficiency, and Progressive Pancytopenia

  2000cites this paper
• Monoallelic Expression of Pax5: A Paradigm for the Haploinsufficiency of Mammalian Pax Genes?

  1999cites this paper
• Expression of Pax5 gene in human haematopoietic cells and tissues: comparison with immunodeficient donors

  1998cites this paper
• A non-XLA primary deficiency causes the earliest known defect of B cell differentiation in humans: a comparison with an XLA case.

  1997cites this paper
• B cell lineage-specific activator protein (BSAP). A player at multiple stages of B cell development.

  1996cites this paper
• A human non-XLA immunodeficiency disease characterized by blockage of B cell development at an early proB cell stage.

  1996cites this paper
• The role of BSAP (Pax-5) in B-cell development.

  1995cites this paper
• Genetics of IgA deficiency

  1995cites this paper