BIOMAT Database Logo BIOMAT Database Logo

Haemochromatosis and HLA-H. 1996

E C Jazwinska, and L M Cullen, and F Busfield, and W R Pyper, and S I Webb, and L W Powell, and C P Morris, and T P Walsh

UI MeSH Term Description Entries
D008565 Membrane Proteins Proteins which are found in membranes including cellular and intracellular membranes. They consist of two types, peripheral and integral proteins. They include most membrane-associated enzymes, antigenic proteins, transport proteins, and drug, hormone, and lectin receptors. Cell Membrane Protein,Cell Membrane Proteins,Cell Surface Protein,Cell Surface Proteins,Integral Membrane Proteins,Membrane-Associated Protein,Surface Protein,Surface Proteins,Integral Membrane Protein,Membrane Protein,Membrane-Associated Proteins,Membrane Associated Protein,Membrane Associated Proteins,Membrane Protein, Cell,Membrane Protein, Integral,Membrane Proteins, Integral,Protein, Cell Membrane,Protein, Cell Surface,Protein, Integral Membrane,Protein, Membrane,Protein, Membrane-Associated,Protein, Surface,Proteins, Cell Membrane,Proteins, Cell Surface,Proteins, Integral Membrane,Proteins, Membrane,Proteins, Membrane-Associated,Proteins, Surface,Surface Protein, Cell
D009154 Mutation Any detectable and heritable change in the genetic material that causes a change in the GENOTYPE and which is transmitted to daughter cells and to succeeding generations. Mutations
D005819 Genetic Markers A phenotypically recognizable genetic trait which can be used to identify a genetic locus, a linkage group, or a recombination event. Chromosome Markers,DNA Markers,Markers, DNA,Markers, Genetic,Genetic Marker,Marker, Genetic,Chromosome Marker,DNA Marker,Marker, Chromosome,Marker, DNA,Markers, Chromosome
D006239 Haplotypes The genetic constitution of individuals with respect to one member of a pair of allelic genes, or sets of genes that are closely linked and tend to be inherited together such as those of the MAJOR HISTOCOMPATIBILITY COMPLEX. Haplotype
D006432 Hemochromatosis A disorder of iron metabolism characterized by a triad of HEMOSIDEROSIS; LIVER CIRRHOSIS; and DIABETES MELLITUS. It is caused by massive iron deposits in parenchymal cells that may develop after a prolonged increase of iron absorption. (Jablonski's Dictionary of Syndromes & Eponymic Diseases, 2d ed) Diabetes, Bronze,Bronze Diabetes,Bronzed Cirrhosis,Familial Hemochromatosis,Genetic Hemochromatosis,Haemochromatosis,Hemochromatoses,Iron Storage Disorder,Pigmentary Cirrhosis,Primary Hemochromatosis,Troisier-Hanot-Chauffard Syndrome,Von Recklenhausen-Applebaum Disease,Bronzed Cirrhoses,Cirrhoses, Bronzed,Cirrhoses, Pigmentary,Cirrhosis, Bronzed,Cirrhosis, Pigmentary,Disease, Von Recklenhausen-Applebaum,Diseases, Von Recklenhausen-Applebaum,Disorder, Iron Storage,Disorders, Iron Storage,Familial Hemochromatoses,Genetic Hemochromatoses,Haemochromatoses,Hemochromatose,Hemochromatoses, Familial,Hemochromatoses, Genetic,Hemochromatosis, Familial,Hemochromatosis, Genetic,Iron Storage Disorders,Pigmentary Cirrhoses,Recklenhausen-Applebaum Disease, Von,Recklenhausen-Applebaum Diseases, Von,Storage Disorder, Iron,Storage Disorders, Iron,Syndrome, Troisier-Hanot-Chauffard,Syndromes, Troisier-Hanot-Chauffard,Troisier Hanot Chauffard Syndrome,Troisier-Hanot-Chauffard Syndromes,Von Recklenhausen Applebaum Disease,Von Recklenhausen-Applebaum Diseases
D006680 HLA Antigens Antigens determined by leukocyte loci found on chromosome 6, the major histocompatibility loci in humans. They are polypeptides or glycoproteins found on most nucleated cells and platelets, determine tissue types for transplantation, and are associated with certain diseases. Human Leukocyte Antigen,Human Leukocyte Antigens,Leukocyte Antigens,HL-A Antigens,Antigen, Human Leukocyte,Antigens, HL-A,Antigens, HLA,Antigens, Human Leukocyte,Antigens, Leukocyte,HL A Antigens,Leukocyte Antigen, Human,Leukocyte Antigens, Human
D006720 Homozygote An individual in which both alleles at a given locus are identical. Homozygotes
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D000071020 Hemochromatosis Protein A membrane protein and MHC class I antigen. It contains an IMMUNOGLOBULIN C1-SET DOMAIN and interacts with BETA 2-MICROGLOBULIN. It may also regulate the interaction of TRANSFERRIN with the TRANSFERRIN RECEPTOR. Mutations in the HFE gene are associated with cases of FAMILIAL HEMOCHROMATOSIS. HFE Protein,HLA-H Antigen,Antigen, HLA-H,HLA H Antigen
D001315 Australia The smallest continent and an independent country, comprising six states and two territories. Its capital is Canberra. Canton and Enderbury Islands,Christmas Island,Christmas Island (Australia)

Related Publications

E C Jazwinska, and L M Cullen, and F Busfield, and W R Pyper, and S I Webb, and L W Powell, and C P Morris, and T P Walsh
Haemochromatosis and HLA-H.
November 1996, Nature genetics,
E C Jazwinska, and L M Cullen, and F Busfield, and W R Pyper, and S I Webb, and L W Powell, and C P Morris, and T P Walsh
Haemochromatosis after the discovery of HFE ("HLA-H")
December 1997, Gut,
E C Jazwinska, and L M Cullen, and F Busfield, and W R Pyper, and S I Webb, and L W Powell, and C P Morris, and T P Walsh
Genetic irony beyond haemochromatosis: clinical effects of HLA-H mutations.
February 1997, Lancet (London, England),
E C Jazwinska, and L M Cullen, and F Busfield, and W R Pyper, and S I Webb, and L W Powell, and C P Morris, and T P Walsh
Molecular analysis of HLA-H gene mutations in New Zealand patients with haemochromatosis.
November 1997, The New Zealand medical journal,
E C Jazwinska, and L M Cullen, and F Busfield, and W R Pyper, and S I Webb, and L W Powell, and C P Morris, and T P Walsh
Predominance of the HLA-H Cys282Tyr mutation in Austrian patients with genetic haemochromatosis.
November 1997, Journal of hepatology,
E C Jazwinska, and L M Cullen, and F Busfield, and W R Pyper, and S I Webb, and L W Powell, and C P Morris, and T P Walsh
HLA class I and H ferritin gene polymorphisms in normal subjects and patients with haemochromatosis.
September 1988, Human genetics,
E C Jazwinska, and L M Cullen, and F Busfield, and W R Pyper, and S I Webb, and L W Powell, and C P Morris, and T P Walsh
Letter: HLA antigens in haemochromatosis.
November 1975, British medical journal,
E C Jazwinska, and L M Cullen, and F Busfield, and W R Pyper, and S I Webb, and L W Powell, and C P Morris, and T P Walsh
HLA determinants in idiopathic haemochromatosis.
October 1985, Danish medical bulletin,
E C Jazwinska, and L M Cullen, and F Busfield, and W R Pyper, and S I Webb, and L W Powell, and C P Morris, and T P Walsh
Letter: HLA antigens in haemochromatosis.
January 1976, British medical journal,
E C Jazwinska, and L M Cullen, and F Busfield, and W R Pyper, and S I Webb, and L W Powell, and C P Morris, and T P Walsh
HLA and "non-immunological" disease: idiopathic haemochromatosis.
October 1976, Lancet (London, England),
Copied contents to your clipboard!