tyrosine has been researched along with Bronze Diabetes in 57 studies
Timeframe | Studies, this research(%) | All Research% |
---|---|---|
pre-1990 | 2 (3.51) | 18.7374 |
1990's | 24 (42.11) | 18.2507 |
2000's | 26 (45.61) | 29.6817 |
2010's | 4 (7.02) | 24.3611 |
2020's | 1 (1.75) | 2.80 |
Authors | Studies |
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Borgaonkar, M; Lim, DR; Phua, C; Vidyasankar, G | 1 |
Bratkovic, D; Couper, R; Davidson, GP; Fahy, R; Fletcher, JM; Mackay, RJ; Ranieri, E | 1 |
Lawless, MW | 1 |
Brehm, A; Spínola, C; Spínola, H | 1 |
de Groot, RH; de Kort, WL; Durga, J; Jolles, J; Kok, FJ; Schiepers, OJ; Swinkels, DW; van Boxtel, MP; Verhoef, P | 1 |
Bugianesi, E; Carrozzo, M; Chiusa, L; Conrotto, D | 1 |
Jacobs, EM; Swinkels, DW | 1 |
Ascaso, C; Bruguera, M; Ingelmo, M; Oliva, R; Sánchez, M; Sanz, C; Villa, M | 1 |
Bassett, ML; Cadet, E; Carter, K; David, V; Jouanolle, AM; Livesey, KJ; Merryweather-Clarke, AT; Mosser, A; Pointon, JJ; Poulton, J; Roberts, AG; Robson, KJ; Rochette, J; Wimhurst, VL; Worwood, M | 1 |
Fenger, K; Melsen, GV; Milman, N; Ovesen, L; Pedersen, P | 1 |
Anderson, GJ; Powell, LW; Ramm, GA; Subramaniam, VN | 1 |
Fleming, RE; Gui, D; Kawabata, H; Koeffler, HP; Moon, SY; O'Kelly, J; Said, JW; Saitoh, T; Umehara, Y; Wano, Y | 1 |
Biesiada, G; Dropiński, J; Dziedzina, S; Mach, T; Sanak, M; Szczeklik, W; Szułdrzyński, K | 1 |
Dávid, K; Horváth, G | 1 |
Chanu, B; Férec, C; Ka, C; Le Gac, G; Mercier, AY; Mérour, MC; Mura, C; Nousbaum, JB; Scotet, V | 1 |
Brajenović-Milić, B; Jazbec, SS; Kapović, M; Lovrecić, L; Peterlin, B; Ristić, S; Sepcić, J; Starcević-Cizmarević, N | 1 |
Meier, P; Schuff-Werner, P; Steiner, M | 1 |
Whittington, C | 1 |
Distante, S | 1 |
Abraham, SC; Adams, LA; Angulo, P; Brandhagen, D; Torgerson, H | 1 |
Baldacci, F; Chiti, A; Gallerini, S; Morelli, N; Murri, L; Orlandi, G; Sonnoli, C | 1 |
Hansson, N; Olsson, KS; Ritter, B | 1 |
Lawless, MW; Mankan, AK; Norris, S; Ryan, AW | 1 |
Adhoute, X; Castéra, L; Chanteloup, E; Couzigou, P; de Lédinghen, V; Foucher, J; Laharie, D; Lovato, B; Merrouche, W; Terrebonne, E; Vergniol, J | 1 |
Rabinowitz, JG | 1 |
Kohgo, Y; Ono, M | 1 |
Camaschella, C; Carella, M; D'Ambrosio, L; Franco, B; Gasparini, P; Girelli, D; Grifa, A; Piperno, A; Roetto, A; Totaro, A; Valentino, MA | 1 |
Chang, JG; Lin, SF; Liu, TC | 1 |
Acton, RT; Barton, JC; Harmon, L; Rivers, C; Rothenberg, BE; Sawada-Hirai, R; Shih, WW | 1 |
Cox, TM; Raha-Chowdhury, R; Rhodes, DA; Trowsdale, J | 1 |
Aslam, S; Standen, GR | 1 |
Burt, MJ; Chapman, BA; Faed, JM; George, PM; Morison, IM; Upton, JD | 1 |
Bevan, D; Jeffery, S; Killick, S; Otter, M; Rist, C | 1 |
Smillie, D | 1 |
Gottschalk, R; Hoelzer, D; Kaltwasser, JP; Löffler, T; Seidl, C; Seifried, E | 1 |
Airaud, F; Andre, MT; Benichou, B; Herbert, O; Jacquemont, S; Moisan, JP; Raguenes, O; Renault, S | 1 |
Ellard, S; Frayling, T; Grove, J; Hattersley, AT; Walker, M | 1 |
Bach, JF; Boitard, C; Caillat-Zucman, S; Djilali-Saiah, I; Dubois-Laforgue, D; Larger, E; Mercadier, A; Timsit, J | 1 |
Baiget, M; Barceló, MJ; Gimferrer, E | 1 |
Jouanolle, AM; Pinson, S; Plauchu, H; Turlin, B; Yaouanq, J | 1 |
Lucotte, G | 1 |
Callender, ME; Curran, MD; McDougall, N; Middleton, D; Murphy, S; O'Brien, CJ | 1 |
Ahuja, S; Carter, R; Gerstein, HC; Kwan, T; Leber, B | 1 |
Anderson, GJ; Cullen, LM; Jazwinska, EC; Powell, LW; Ramm, GA | 1 |
Benito, A; Castro, B; Fábrega, E; Fernández-Luna, JL; Pons-Romero, F; Sánchez-Castro, L | 1 |
Baiget, M; Barceló, MJ; Gich, I; Gimferrer, E; Nomdedeu, J | 1 |
Marx, JJ; Swinkels, DW | 1 |
Erhardt, A; Hassan, M; Häussinger, D; Niederau, C; Osman, Y | 1 |
Buttenshaw, RL; Johnson, AG; Leggett, BA; Macdonald, GA; McCann, SJ; Mellick, GD; Tarish, J; Whitehall, VJ; Young, J | 1 |
Castro, JA; Guix, P; Muncunill, J; Obrador, A; Parera, M; Picornell, A; Ramon, MM; Rossell, J; Tomás, C; Vaquer, P | 1 |
Klingler, KR; Wielckens, K; Zech, D | 1 |
Amarenco, P; Arveiler, D; Cambien, F; Elbaz, A; Evans, A; Gariepy, J; Grandchamp, B; Hetet, G; Kee, F; Morrison, C; Nicaud, V; Simon, A | 1 |
Bocchi, EA; Cuoco, MA; da Silva, FF; Freitas, HF; Krieger, JE; Mansur, AJ; Mota, GF; Pereira, AC; Soler, JM | 1 |
Hayashi, H; Ikeda, R; Imaizumi, Y; Kawanaka, M; Sanae, F; Shiono, Y; Takikawa, T; Wakusawa, S; Yamada, G; Yano, M; Yoshioka, K | 1 |
Beckman, L; Mikelsaar, AV; Pärlist, P; Tasa, G | 1 |
Beutler, E; Felitti, V; Gelbart, T; Ho, NJ; Waalen, J | 1 |
Bertrand, O; Boivin, P; Galand, C | 1 |
6 review(s) available for tyrosine and Bronze Diabetes
Article | Year |
---|---|
[From gene to disease; HFE-mutations in primary haemochromatosis].
Topics: Amino Acid Substitution; Cysteine; Genotype; Hemochromatosis; Hemochromatosis Protein; Histocompatibility Antigens Class I; Humans; Membrane Proteins; Mutation, Missense; Tyrosine | 2003 |
[Iron storage disease].
Topics: Aspartic Acid; Carcinoma, Hepatocellular; Chromosomes, Human, Pair 6; Cysteine; Diabetes Mellitus; Diagnosis, Differential; Hemochromatosis; Histidine; Humans; Hyperpigmentation; Iron Overload; Liver Cirrhosis; Liver Neoplasms; Mass Screening; Phlebotomy; Point Mutation; Population Surveillance; Prevalence; Prognosis; Tyrosine | 2004 |
Genetic predisposition to iron overload: prevalence and phenotypic expression of hemochromatosis-associated HFE-C282Y gene mutation.
Topics: Cysteine; Genetic Predisposition to Disease; Hemochromatosis; Hemochromatosis Protein; Histocompatibility Antigens Class I; Humans; Iron Overload; Membrane Proteins; Mutation; Prevalence; Scandinavian and Nordic Countries; Tyrosine | 2006 |
[Liver cirrhosis associated with metabolic disorders].
Topics: alpha 1-Antitrypsin; alpha 1-Antitrypsin Deficiency; Galactosemias; Glycogen Storage Disease; Hemochromatosis; Hepatolenticular Degeneration; Humans; Liver Cirrhosis; Metabolism, Inborn Errors; Tyrosine | 1995 |
Genetics of hemochromatosis.
Topics: Amino Acid Substitution; Aspartic Acid; Cloning, Molecular; Cysteine; Genes, MHC Class I; Genes, Recessive; Hemochromatosis; Hemochromatosis Protein; Heterozygote; Histidine; Histocompatibility Antigens Class I; HLA Antigens; Homozygote; Humans; Iron; Membrane Proteins; Mutation, Missense; Tyrosine | 1999 |
[Diagnosis and treatment of primary hemochromatosis].
Topics: Cysteine; Female; Ferritins; Genetic Testing; Hemochromatosis; Homozygote; Humans; Liver Diseases; Liver Function Tests; Male; Mutation; Phlebotomy; Transferrin; Tyrosine | 1999 |
1 trial(s) available for tyrosine and Bronze Diabetes
Article | Year |
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Serum iron parameters, HFE C282Y genotype, and cognitive performance in older adults: results from the FACIT study.
Topics: Aged; Cognition; Cross-Sectional Studies; Cysteine; Double-Blind Method; Female; Ferritins; Folic Acid; Follow-Up Studies; Genotype; Hematinics; Hemochromatosis; Humans; Iron; Male; Middle Aged; Mutation; Tunica Intima; Tunica Media; Tyrosine | 2010 |
50 other study(ies) available for tyrosine and Bronze Diabetes
Article | Year |
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Clinical Penetrance of Hereditary Hemochromatosis-Related End-Organ Damage of C282Y Homozygosity, A Newfoundland Experience.
Topics: Adult; Cysteine; Disease Progression; Female; Follow-Up Studies; Genetic Testing; Hemochromatosis; Hemochromatosis Protein; Hemosiderosis; Homozygote; Humans; Iron; Liver Cirrhosis; Male; Middle Aged; Newfoundland and Labrador; Penetrance; Retrospective Studies; Tyrosine | 2020 |
Detection of treatable neonatal liver disease by expanded newborn screening.
Topics: alpha-Fetoproteins; Amino Acid Metabolism, Inborn Errors; Antioxidants; Biomarkers; Blood Coagulation Disorders; Diagnosis, Differential; Ferritins; Hemochromatosis; Humans; Hypoalbuminemia; Infant, Newborn; Iron; Iron Chelating Agents; Liver; Male; Methionine; Neonatal Screening; Predictive Value of Tests; Tandem Mass Spectrometry; Treatment Outcome; Tyrosine | 2008 |
Hemochromatosis protein HFE C282Y conformational considerations.
Topics: Amino Acid Substitution; Cysteine; Hemochromatosis; Hemochromatosis Protein; Histocompatibility Antigens Class I; Humans; Membrane Proteins; Mutation; Protein Conformation; Protein Folding; Protein Transport; Tyrosine | 2010 |
Prevalence of H63D, S65C, and C282Y hereditary hemochromatosis gene variants in Madeira Island (Portugal).
Topics: Adolescent; Adult; Amino Acid Substitution; Aspartic Acid; Cysteine; Gene Frequency; Genotype; Hemochromatosis; Hemochromatosis Protein; Histidine; Histocompatibility Antigens Class I; Humans; Male; Membrane Proteins; Polymorphism, Single Nucleotide; Portugal; Prevalence; Serine; Tyrosine; Young Adult | 2011 |
Non-alcoholic steatohepatitis (NASH) and oral lichen planus: a rare occurrence.
Topics: Adult; Biopsy, Fine-Needle; Cysteine; Fatty Liver; Hemochromatosis; Hemochromatosis Protein; Heterozygote; Histocompatibility Antigens Class I; Humans; Lichen Planus, Oral; Male; Membrane Proteins; Mutation; Siderosis; Tyrosine | 2011 |
Population screening for hemochromatosis: a study in 5370 Spanish blood donors.
Topics: Adult; Aspartic Acid; Blood Donors; Cysteine; Female; Ferritins; Gene Frequency; Genetic Testing; Genotype; Hemochromatosis; Hemochromatosis Protein; Heterozygote; Histidine; Histocompatibility Antigens Class I; Homozygote; Humans; Male; Membrane Proteins; Middle Aged; Mutation; Sex Characteristics; Spain; Transferrin; Tyrosine | 2003 |
The 16189 variant of mitochondrial DNA occurs more frequently in C282Y homozygotes with haemochromatosis than those without iron loading.
Topics: Adult; Aged; Aged, 80 and over; Amino Acid Substitution; Cohort Studies; Cysteine; Diabetes Mellitus, Type 1; Diabetes Mellitus, Type 2; DNA, Mitochondrial; Gene Frequency; Genotype; Hemochromatosis; Hemochromatosis Protein; Histocompatibility Antigens Class I; Homozygote; Humans; Iron Overload; Membrane Proteins; Middle Aged; Mutation; Phenotype; Tyrosine | 2004 |
Frequency of the C282Y and H63D mutations of the hemochromatosis gene (HFE) in 2501 ethnic Danes.
Topics: Aspartic Acid; Confidence Intervals; Cysteine; Denmark; Female; Gene Frequency; Genotype; Hemochromatosis; Hemochromatosis Protein; Histidine; Histocompatibility Antigens Class I; Humans; Male; Membrane Proteins; Mutation; Tyrosine | 2004 |
HFE gene and hemochromatosis.
Topics: Aspartic Acid; Cysteine; Gene Frequency; Hemochromatosis; Hemochromatosis Protein; Heterozygote; Histidine; Histocompatibility Antigens Class I; Homozygote; Humans; Membrane Proteins; Mutation; Mutation, Missense; Tyrosine | 2004 |
Expression of hepcidin is down-regulated in TfR2 mutant mice manifesting a phenotype of hereditary hemochromatosis.
Topics: Animals; Antimicrobial Cationic Peptides; Cation Transport Proteins; Cells, Cultured; Down-Regulation; Duodenum; Female; Hemochromatosis; Hepcidins; Iron; Iron-Binding Proteins; Liver; Male; Mice; Mice, Transgenic; Mutation; Phenotype; Receptors, Transferrin; RNA, Messenger; Tyrosine | 2005 |
[Hereditary hemochromatosis: molecular diagnosis and effect of treatment].
Topics: Adult; Cysteine; Genotype; Hemochromatosis; Hemochromatosis Protein; Histocompatibility Antigens Class I; Homozygote; Humans; Male; Membrane Proteins; Mutation; Phlebotomy; Polymerase Chain Reaction; Tyrosine | 2004 |
Impact of HFE genetic testing on clinical presentation of hereditary hemochromatosis: new epidemiological data.
Topics: Adolescent; Adult; Aged; Amino Acid Substitution; Cohort Studies; Cysteine; Female; France; Genetic Testing; Genotype; Hemochromatosis; Hemochromatosis Protein; Histocompatibility Antigens Class I; Humans; Male; Membrane Proteins; Middle Aged; Molecular Diagnostic Techniques; Molecular Epidemiology; Sex Ratio; Tyrosine | 2005 |
Mutations in the hemochromatosis gene (HFE) and multiple sclerosis.
Topics: Adolescent; Adult; Aged; Analysis of Variance; Case-Control Studies; Cysteine; DNA Mutational Analysis; Female; Gene Frequency; Genotype; Hemochromatosis; Hemochromatosis Protein; Histocompatibility Antigens Class I; Humans; Male; Membrane Proteins; Middle Aged; Multiple Sclerosis; Mutation; Severity of Illness Index; Tyrosine | 2005 |
Hemochromatosis gene HFE Cys282Tyr mutation analysis in a cohort of Northeast German hospitalized patients supports assumption of a North to South allele frequency gradient throughout Germany.
Topics: Adolescent; Adult; Aged; Aged, 80 and over; Amino Acid Substitution; Biomarkers; Cohort Studies; Cysteine; DNA Mutational Analysis; Female; Gene Frequency; Germany; Hemochromatosis; Hemochromatosis Protein; Heterozygote; Histocompatibility Antigens Class I; Homozygote; Hospitalization; Humans; Male; Membrane Proteins; Middle Aged; Mutation; Tyrosine | 2005 |
The C282Y mutation may have been positively selected as it mitigates the infertility of celiac disease.
Topics: Cation Transport Proteins; Celiac Disease; Cysteine; Hemochromatosis; Humans; Infertility; Iron-Binding Proteins; Mutation; Tyrosine | 2006 |
The effect of the metabolic syndrome, hepatic steatosis and steatohepatitis on liver fibrosis in hereditary hemochromatosis.
Topics: Adult; Aged; Aspartic Acid; Cysteine; Fatty Liver; Female; Genetic Predisposition to Disease; Glucose Intolerance; Hemochromatosis; Hepatitis; Heterozygote; Histidine; Homozygote; Humans; Iron Overload; Liver Cirrhosis; Male; Metabolic Syndrome; Middle Aged; Multivariate Analysis; Predictive Value of Tests; Prospective Studies; Risk Factors; Tyrosine | 2006 |
Spontaneous bilateral carotid artery dissection and hereditary haemochromatosis: what relationship?
Topics: Carotid Artery, Internal, Dissection; Cysteine; Hemochromatosis; Hemochromatosis Protein; Histocompatibility Antigens Class I; Humans; Iron; Magnetic Resonance Angiography; Magnetic Resonance Imaging; Male; Membrane Proteins; Middle Aged; Mutation; Tyrosine | 2006 |
The HLA-A1-B8 haplotype hitchhiking with the hemochromatosis mutation: does it affect the phenotype?
Topics: Adult; Aged; Cysteine; Female; Ferritins; Haplotypes; Hemochromatosis; Hemochromatosis Protein; Histocompatibility Antigens Class I; HLA-A1 Antigen; HLA-A3 Antigen; HLA-B8 Antigen; Humans; Iron Deficiencies; Male; Membrane Proteins; Middle Aged; Mutation; Pedigree; Phenotype; Sweden; Tyrosine | 2007 |
Tauroursodeoxycholic acid: relieving the pathogenesis of HFE C282Y hereditary hemochromatosis.
Topics: Antioxidants; Cysteine; Endoplasmic Reticulum; Hemochromatosis; Hemochromatosis Protein; Histocompatibility Antigens Class I; Homozygote; Humans; Membrane Proteins; Mutation; Reactive Oxygen Species; Taurochenodeoxycholic Acid; Tyrosine | 2008 |
Diagnosis of liver fibrosis using FibroScan and other noninvasive methods in patients with hemochromatosis: a prospective study.
Topics: Age Factors; Aspartate Aminotransferases; Biomarkers; Cohort Studies; Cysteine; Elasticity Imaging Techniques; Female; Ferritins; Follow-Up Studies; Hemochromatosis; Homozygote; Humans; Liver; Liver Cirrhosis; Male; Middle Aged; Predictive Value of Tests; Prospective Studies; Tyrosine | 2008 |
Abnormalities of the liver and other organs.
Topics: Abnormalities, Multiple; alpha 1-Antitrypsin Deficiency; Amino Acid Metabolism, Inborn Errors; Colitis; Colon; Cystinosis; Heart Failure; Hemochromatosis; Hepatolenticular Degeneration; Humans; Liver; Liver Diseases; Necrosis; Radiography; Sclerosis; Tyrosine | 1980 |
Mutation analysis of the HLA-H gene in Italian hemochromatosis patients.
Topics: Chromosomes, Human, Pair 6; Cysteine; Female; Genetic Heterogeneity; Genetic Linkage; Haplotypes; Hemochromatosis; Hemochromatosis Protein; Histocompatibility Antigens Class I; HLA Antigens; Homozygote; Humans; Italy; Major Histocompatibility Complex; Male; Membrane Proteins; Mutation; Polymorphism, Single-Stranded Conformational; Sequence Analysis, DNA; Tyrosine; White People | 1997 |
Rapid diagnosis of the HLA-H gene Cys 282 Tyr mutation in hemochromatosis by polymerase chain reaction--a very rare mutation in the Chinese population.
Topics: Base Sequence; China; Cysteine; DNA Primers; Hemochromatosis; Hemochromatosis Protein; Histocompatibility Antigens Class I; HLA Antigens; Humans; Major Histocompatibility Complex; Membrane Proteins; Point Mutation; Polymerase Chain Reaction; Tyrosine | 1997 |
Genetic and clinical description of hemochromatosis probands and heterozygotes: evidence that multiple genes linked to the major histocompatibility complex are responsible for hemochromatosis.
Topics: Adult; Alleles; Aspartic Acid; Chromosomes, Human, Pair 6; Cysteine; Female; Gene Frequency; Genes, MHC Class I; Genetic Linkage; Hemochromatosis; Heterozygote; Histidine; Histocompatibility Testing; HLA Antigens; Homozygote; Humans; Iron; Male; Middle Aged; Mutation; Tyrosine; White People | 1997 |
Homozygosity for the predominant Cys282Tyr mutation and absence of disease expression in hereditary haemochromatosis.
Topics: Adult; Age of Onset; Aged; Aged, 80 and over; Cysteine; Female; Hemochromatosis; Hemochromatosis Protein; Histocompatibility Antigens Class I; HLA Antigens; Homozygote; Humans; Iron; Liver; Male; Membrane Proteins; Middle Aged; Mutation; Pedigree; Transferrin; Tyrosine | 1997 |
Rapid diagnosis of asymptomatic hereditary haemochromatosis by detection of the Cys282Tyr mutation in the HLA-H gene.
Topics: Cysteine; DNA Mutational Analysis; Female; Genes, MHC Class I; Hemochromatosis; Humans; Middle Aged; Mutation; Polymerase Chain Reaction; Tyrosine | 1997 |
Molecular analysis of HLA-H gene mutations in New Zealand patients with haemochromatosis.
Topics: Adult; Aged; Aged, 80 and over; Amino Acid Substitution; Cysteine; DNA Mutational Analysis; Female; Gene Frequency; Hemochromatosis; Hemochromatosis Protein; Histocompatibility Antigens Class I; HLA Antigens; Homozygote; Humans; Male; Membrane Proteins; Middle Aged; Mutation; New Zealand; Polymerase Chain Reaction; Restriction Mapping; Tyrosine | 1997 |
Thrombotic thrombocytopenic purpura in a patient with genetic haemochromatosis, liver cirrhosis and an iron-free focus.
Topics: Adult; Cytosine; Hemochromatosis; Humans; Liver Cirrhosis; Male; Mutation; Purpura, Thrombotic Thrombocytopenic; Tyrosine | 1997 |
A PCR-SSP method for detecting the Cys282Tyr mutation in the HFE gene associated with hereditary haemochromatosis.
Topics: Cysteine; DNA Primers; Hemochromatosis; Humans; Molecular Sequence Data; Point Mutation; Polymerase Chain Reaction; Tyrosine | 1997 |
HFE codon 63/282 (H63D/C282Y) dimorphism in German patients with genetic hemochromatosis.
Topics: Aspartic Acid; Codon; Cysteine; Female; Genotype; Germany; Hemochromatosis; Hemochromatosis Protein; Histidine; Histocompatibility Antigens Class I; HLA Antigens; Humans; Male; Membrane Proteins; Point Mutation; Polymorphism, Genetic; Tyrosine | 1998 |
Rapid diagnostic test for detection of Cys282Tyr mutation in hereditary hemochromatosis.
Topics: Cysteine; DNA Primers; Hemochromatosis; Histocompatibility Antigens Class I; HLA Antigens; Humans; Mutation; Polymerase Chain Reaction; Tyrosine | 1998 |
C282Y mutation in HFE (haemochromatosis) gene and type 2 diabetes.
Topics: Adult; Codon; Cysteine; Diabetes Mellitus, Type 2; England; Female; Genetic Predisposition to Disease; Genetic Testing; Hemochromatosis; Humans; Male; Middle Aged; Mutation; Polymerase Chain Reaction; Prevalence; Tyrosine | 1998 |
Mutations in HFE, the hemochromatosis candidate gene, in patients with NIDDM.
Topics: Amino Acid Substitution; Aspartic Acid; Cysteine; Diabetes Mellitus, Type 2; Hemochromatosis; Hemochromatosis Protein; Histidine; Histocompatibility Antigens Class I; HLA Antigens; Homozygote; Humans; Major Histocompatibility Complex; Membrane Proteins; Point Mutation; Reference Values; Tyrosine | 1998 |
Frequency of the HFE C282Y and H63D mutations in distinct ethnic groups living in Spain.
Topics: Alleles; Aspartic Acid; Cysteine; Ethnicity; Genotype; Hemochromatosis; Hemochromatosis Protein; Histidine; Histocompatibility Antigens Class I; HLA Antigens; Humans; Membrane Proteins; Mutation; Roma; Spain; Tyrosine | 1998 |
Non-C282Y familial iron overload: evidence for locus heterogeneity in haemochromatosis.
Topics: Adult; Amino Acid Substitution; Cysteine; Female; Genetic Diseases, Inborn; Genetic Heterogeneity; Hemochromatosis; Humans; Iron Overload; Male; Middle Aged; Tyrosine | 1998 |
Celtic origin of the C282Y mutation of hemochromatosis.
Topics: Europe; Gene Frequency; Genes, MHC Class I; Hemochromatosis; Hemochromatosis Protein; Histocompatibility Antigens Class I; HLA Antigens; Humans; Membrane Proteins; Mutation; Tyrosine | 1998 |
High incidence of the Cys 282 Tyr mutation in the HFE gene in the Irish population--implications for haemochromatosis.
Topics: Cysteine; Genes, MHC Class I; Hemochromatosis; Hemochromatosis Protein; Histocompatibility Antigens Class I; HLA Antigens; Humans; Incidence; Ireland; Membrane Proteins; Point Mutation; Tyrosine | 1998 |
Patients with type 2 diabetes have a high frequency of the C282Y mutation of the hemochromatosis gene.
Topics: Adolescent; Adult; Cysteine; Diabetes Mellitus, Type 1; Diabetes Mellitus, Type 2; Female; Hemochromatosis; Humans; Male; Middle Aged; Point Mutation; Tyrosine | 1998 |
[The prevalence of the Cys282Tyr mutation in the hemochromatosis gene in Cantabria in patients diagnosed with hereditary hemochromatosis].
Topics: Base Sequence; Cysteine; DNA Primers; Female; Gene Frequency; Genotype; Hemochromatosis; Humans; Male; Molecular Sequence Data; Mutation; Phenotype; Polymerase Chain Reaction; Prevalence; Spain; Tyrosine | 1999 |
Prevalence of hemochromatosis related HFE gene mutations in patients with acute myeloid leukemia.
Topics: Acute Disease; Codon; Cysteine; Hemochromatosis; Humans; Leukemia, Myeloid; Mutation; Prevalence; Tyrosine | 1999 |
[Demonstration of HFE polymorphism in German patients with hereditary hemochromatosis].
Topics: Amino Acid Sequence; Asparagine; Chromosomes, Human, Pair 6; Codon; Cysteine; Germany; Hemochromatosis; Heterozygote; Histidine; HLA Antigens; Homozygote; Humans; Molecular Sequence Data; Point Mutation; Polymerase Chain Reaction; Polymorphism, Genetic; Tyrosine | 1999 |
No evidence of increased risk of colorectal cancer in individuals heterozygous for the Cys282Tyr haemochromatosis mutation.
Topics: Aged; Chi-Square Distribution; Colorectal Neoplasms; Cysteine; Electrophoresis, Polyacrylamide Gel; Female; Genes, MHC Class I; Hemochromatosis; Hemochromatosis Protein; Heterozygote; Histocompatibility Antigens Class I; HLA Antigens; Humans; Male; Membrane Proteins; Mutation; Polymerase Chain Reaction; Risk Factors; Tyrosine | 1999 |
Prevalence of the C282Y mutation for haemochromatosis on the Island of Majorca.
Topics: Adult; Cysteine; DNA Primers; Female; Hemochromatosis; Hemochromatosis Protein; Heterozygote; Histocompatibility Antigens Class I; HLA Antigens; Homozygote; Humans; Male; Membrane Proteins; Mutation; Polymerase Chain Reaction; Prevalence; Seroepidemiologic Studies; Spain; Tyrosine | 2000 |
Haemochromatosis: automated detection of the two point mutations in the HFE gene: Cys282Tyr and His63Asp.
Topics: Aspartic Acid; Cysteine; DNA Mutational Analysis; Hemochromatosis; Hemochromatosis Protein; Heterozygote; Histidine; Histocompatibility Antigens Class I; HLA Antigens; Humans; Membrane Proteins; Mutation; Point Mutation; Polymerase Chain Reaction; Reproducibility of Results; Sensitivity and Specificity; Tyrosine | 2000 |
Association studies between haemochromatosis gene mutations and the risk of cardiovascular diseases.
Topics: Adolescent; Adult; Aged; Aged, 80 and over; Arteriosclerosis; Aspartic Acid; Brain Infarction; Cardiovascular Diseases; Case-Control Studies; Cysteine; Female; France; Genetic Predisposition to Disease; Genotype; Hemochromatosis; Hemochromatosis Protein; Histidine; Histocompatibility Antigens Class I; HLA Antigens; Humans; Male; Membrane Proteins; Middle Aged; Mutation; Myocardial Infarction; Northern Ireland; Polymorphism, Genetic; Prevalence; Prospective Studies; Tyrosine; Ultrasonography; United Kingdom | 2001 |
Hemochromatosis gene variants in patients with cardiomyopathy.
Topics: Adolescent; Adult; Aged; Aspartic Acid; Cardiomyopathies; Cysteine; Disease Progression; Female; Genotype; Heart Failure; Hemochromatosis; Histidine; Humans; Logistic Models; Male; Middle Aged; Mutation, Missense; Prognosis; Tyrosine | 2001 |
C282Y and H63D mutations in the HFE gene have no effect on iron overload disorders in Japan.
Topics: Adult; Asian People; Aspartic Acid; Cysteine; Female; Hemochromatosis; Hemochromatosis Protein; Hepatitis C, Chronic; Histidine; Histocompatibility Antigens Class I; HLA Antigens; Humans; Iron Overload; Japan; Liver Diseases; Male; Membrane Proteins; Middle Aged; Point Mutation; Polymerase Chain Reaction; Tyrosine | 2001 |
The frequency of C282Y and H63D mutations in Hemochromatosis gene in native Estonians.
Topics: Adolescent; Adult; Aged; Aged, 80 and over; Alleles; Aspartic Acid; Cysteine; DNA Mutational Analysis; DNA Primers; Estonia; Female; Gene Frequency; Genotype; Hemochromatosis; Histidine; Humans; Male; Middle Aged; Mutation; Polymerase Chain Reaction; Tyrosine | 2001 |
Prevalence of hemochromatosis-related symptoms among individuals with mutations in the HFE gene.
Topics: Adult; Aged; Aspartic Acid; Case-Control Studies; Cysteine; Double-Blind Method; Female; Ferritins; Genetic Predisposition to Disease; Genetic Testing; Genotype; Hemochromatosis; Hispanic or Latino; Histidine; Homozygote; Humans; Male; Middle Aged; Mutation; Prevalence; Surveys and Questionnaires; Transferrin; Tyrosine; United States; White People | 2002 |
Protein band 3 phosphotyrosyl phosphatase. Purification and characterization.
Topics: Anion Exchange Protein 1, Erythrocyte; Erythrocytes; Hemochromatosis; Humans; Kinetics; Molecular Weight; Phosphoprotein Phosphatases; Protein Tyrosine Phosphatases; Tyrosine | 1987 |