Page last updated: 2024-08-17

histidine and Bare Lymphocyte Syndrome

histidine has been researched along with Bare Lymphocyte Syndrome in 4 studies

Research

Studies (4)

TimeframeStudies, this research(%)All Research%
pre-19900 (0.00)18.7374
1990's2 (50.00)18.2507
2000's1 (25.00)29.6817
2010's1 (25.00)24.3611
2020's0 (0.00)2.80

Authors

AuthorsStudies
Callebaut, I; Charbonnier, JB; de Villartay, JP; Fischer, A; Lieber, MR; Mornon, JP; Shimazaki, N1
Ebell, W; Kühl, JS; Meisel, C; Münch, A; Pekrun, A; Schmugge, M; Schwarz, K; von Bernuth, H; Wahn, V1
Arredondo-Vega, FX; Debre, M; Dreyfus, DH; elDahr, J; Fischer, A; Gelfand, EW; Hilman, B; Kelly, S; Pérignon, JL; Santisteban, I1
Iseki, M; Kenri, T; Kurosawa, Y; Moriwaki, Y; Sasaki, T; Sasaki, Y; Yamaguchi, S; Yamamoto, T; Yamashita, R1

Other Studies

4 other study(ies) available for histidine and Bare Lymphocyte Syndrome

ArticleYear
A histidine in the beta-CASP domain of Artemis is critical for its full in vitro and in vivo functions.
    DNA repair, 2009, Feb-01, Volume: 8, Issue:2

    Topics: Amino Acid Sequence; Amino Acid Substitution; Base Sequence; Conserved Sequence; DNA; DNA Mutational Analysis; DNA-Binding Proteins; Endonucleases; HeLa Cells; Histidine; Humans; Molecular Sequence Data; Mutant Proteins; Nuclear Proteins; Protein Structure, Tertiary; Severe Combined Immunodeficiency; Structure-Activity Relationship

2009
Hyperbilirubinemia and rapid fatal hepatic failure in severe combined immunodeficiency caused by adenosine deaminase deficiency (ADA-SCID).
    Klinische Padiatrie, 2011, Volume: 223, Issue:2

    Topics: Adenosine Deaminase; Agammaglobulinemia; Amino Acid Substitution; Arginine; Bone Marrow Transplantation; Consanguinity; Exons; Fatal Outcome; Female; Hepatorenal Syndrome; Histidine; Humans; Hyperbilirubinemia, Neonatal; Infant; Infant, Newborn; Leukocyte Count; Liver Failure; Liver Function Tests; Lymphocyte Activation; Mutation, Missense; Neutrophils; Severe Combined Immunodeficiency

2011
Four new adenosine deaminase mutations, altering a zinc-binding histidine, two conserved alanines, and a 5' splice site.
    Human mutation, 1995, Volume: 5, Issue:3

    Topics: Adenosine Deaminase; Alanine; Base Sequence; Binding Sites; Black People; Conserved Sequence; Histidine; Humans; Infant; Introns; Male; Models, Chemical; Molecular Sequence Data; Mutation; Polymerase Chain Reaction; RNA Splicing; Severe Combined Immunodeficiency; White People; Zinc

1995
Direct evidence of autosomal recessive inheritance of Arg24 to termination codon in purine nucleoside phosphorylase gene in a family with a severe combined immunodeficiency patient.
    Human genetics, 1998, Volume: 103, Issue:1

    Topics: Amino Acid Sequence; Arginine; Base Sequence; Child, Preschool; Chromosome Mapping; Chromosomes, Human, Pair 14; Codon, Terminator; Consanguinity; DNA Primers; Erythrocytes; Exons; Female; Genes, Recessive; Genetic Carrier Screening; Glycine; Histidine; Humans; Male; Nuclear Family; Pedigree; Point Mutation; Polymerase Chain Reaction; Purine-Nucleoside Phosphorylase; Serine; Severe Combined Immunodeficiency

1998