Page last updated: 2024-08-17

histidine and Syndrome

histidine has been researched along with Syndrome in 26 studies

Research

Studies (26)

TimeframeStudies, this research(%)All Research%
pre-19909 (34.62)18.7374
1990's7 (26.92)18.2507
2000's4 (15.38)29.6817
2010's2 (7.69)24.3611
2020's4 (15.38)2.80

Authors

AuthorsStudies
Abdul-Rahman, OA; Almpani, K; Antony, JH; Barry, BJ; Brewer, C; Chan, WM; Collins, FS; Delaney, A; Engle, EC; Facio, FM; FitzGibbon, EJ; Hunter, DG; Jabs, EW; King, KA; Kvarnung, M; Larsen, DA; Lee, JS; Lee, PR; Lehky, TJ; Ma, A; Maarup, TJ; MacKinnon, S; Manoli, I; Moller, HU; Paul, SM; Ragnhild, G; Robson, CD; Tham, E; Thurm, A; Toro, C; Troedson, C; Van Ryzin, C; Webb, BD; Whitman, MC; Wirgenes, KV; Zalewski, C1
AlAbdi, L; Alkuraya, FS; Alnemer, M; Brinkmann, U; Egense, A; Eriksson, LA; Grimsrud, K; Hörberg, J; Krier, J; Lanoue, L; Lloyd, K; Mayer, K; Monaghan, KG; Rauen, KA; Schaffrath, R; Shankar, PR; Shankar, SP; Stoler, J; Ütkür, K; Willis, B1
Brinkmann, U; Khan, M; Manivannan, T; Mayer, K; Schaffrath, R; Ütkür, K1
Brinkmann, U; Hawer, H; Kung, A; Malhotra, A; Mayer, K; Mendelsohn, BA; Schaffrath, R; Schleit, J; Tuupanen, S1
Araiz, JJ; Arenas, J; Bernal, V; Campillo, A; Fuentes-Broto, L; García, JJ; García-Gil, FA; Güemes, A; Royo, P; Serrano, MT; Simón, MA; Sostres, C1
Liyasova, MS; Lockridge, O; Schopfer, LM1
Honjo, T; Mizutani, S; Morio, T; Muramatsu, M; Nonoyama, S; Zhu, Y1
Liu, J; Wang, J; Zhang, Q1
de Zegher, F; Deloof, E; Devlieger, H; Devriendt, K; Legius, E; Moerman, P; Proesmans, W; Vanhole, C1
Amram, S; Belon, C; Bringer, J; Lobaccaro, JM; Lumbroso, S; Rodier, M; Sultan, C1
Fujino, T; Hirama, Y; Shinriki, N; Uedaira, H1
Haji, M; Hasegawa, T; Imasaki, K; Nawata, H; Okabe, T; Sakai, Y; Takayanagi, R1
Couton, JM; Richards, NG; Silverman, DN; Tu, C; Van Heeke, G1
Abe, S; Hoshino, T; Isoda, H; Iwasaki, S; Usami , S; Watanabe, T1
Furuhashi, A; Miura, Y; Mori, N; Murakami, H; Naganawa, S; Nakashima, T; Nakayama, A; Sato, E; Tadokoro, M1
Bulfield, G1
Halliday, D; McKeran, RO; Purkiss, P; Royston, P1
Fukuda, S; Jones, M; Kopple, JD; Swendseid, ME1
Bronzert, DA; Henkin, RI; Patten, BM; Re, PK1
Frens, DB; Jacobson, DM; Johnson, R1
Johnson, TM; Sly, WS; Tashian, RE; Venta, PJ; Welty, RJ1
Appleton, RE; Chitayat, D; Hall, JG; Jan, JE; Kennedy, R1
Al Halnak, A; Dubertret, L; Morliere, P; Nordmann, Y; Santus, R1
Holmgren, G1
Holmgren, G; Nordström, S; Thorburn, W1
Ionasescu, V; Mueller, S; Stegink, L; Weinstein, M1

Reviews

1 review(s) available for histidine and Syndrome

ArticleYear
Nutrition and animal models of inherited metabolic disease.
    The Proceedings of the Nutrition Society, 1977, Volume: 36, Issue:1

    Topics: Acatalasia; Amino Acid Metabolism, Inborn Errors; Anemia; Animals; Diabetes Mellitus; Disease Models, Animal; Enzymes; Female; Glycogen Storage Disease Type VIII; Histidine; Humans; Hyperlipidemias; Metabolism, Inborn Errors; Mice; Mutation; Nervous System Diseases; Nutritional Physiological Phenomena; Obesity; Parabiosis; Pregnancy; Syndrome

1977

Trials

1 trial(s) available for histidine and Syndrome

ArticleYear
Celsior versus University of Wisconsin preserving solutions for liver transplantation: postreperfusion syndrome and outcome of a 5-year prospective randomized controlled study.
    World journal of surgery, 2011, Volume: 35, Issue:7

    Topics: Adenosine; Adolescent; Adult; Aged; Allopurinol; Disaccharides; Electrolytes; Female; Follow-Up Studies; Glutamates; Glutathione; Histidine; Humans; Insulin; Liver Transplantation; Male; Mannitol; Middle Aged; Organ Preservation; Organ Preservation Solutions; Postoperative Complications; Prospective Studies; Raffinose; Reperfusion Injury; Syndrome; Time Factors; Young Adult

2011

Other Studies

24 other study(ies) available for histidine and Syndrome

ArticleYear
TUBB3 Arg262His causes a recognizable syndrome including CFEOM3, facial palsy, joint contractures, and early-onset peripheral neuropathy.
    Human genetics, 2021, Volume: 140, Issue:12

    Topics: Abnormalities, Multiple; Adolescent; Adult; Amino Acid Substitution; Arginine; Child; Child, Preschool; Facial Paralysis; Female; Fibrosis; Histidine; Humans; Infant; Male; Mutation; Ophthalmoplegia; Peripheral Nervous System Diseases; Syndrome; Tubulin; Young Adult

2021
A novel DPH5-related diphthamide-deficiency syndrome causing embryonic lethality or profound neurodevelopmental disorder.
    Genetics in medicine : official journal of the American College of Medical Genetics, 2022, Volume: 24, Issue:7

    Topics: Adenosine Diphosphate; Animals; Histidine; Humans; Methyltransferases; Mice; Mice, Inbred C57BL; Neurodevelopmental Disorders; Saccharomyces cerevisiae; Saccharomyces cerevisiae Proteins; Syndrome

2022
DPH1 and DPH2 variants that confer susceptibility to diphthamide deficiency syndrome in human cells and yeast models.
    Disease models & mechanisms, 2023, 09-01, Volume: 16, Issue:9

    Topics: Alleles; Animals; Histidine; Humans; Inheritance Patterns; Mammals; Methyltransferases; Minor Histocompatibility Antigens; Proteins; Saccharomyces cerevisiae; Saccharomyces cerevisiae Proteins; Syndrome; Tumor Suppressor Proteins

2023
Diphthamide-deficiency syndrome: a novel human developmental disorder and ribosomopathy.
    European journal of human genetics : EJHG, 2020, Volume: 28, Issue:11

    Topics: Cell Line; Developmental Disabilities; Heart Defects, Congenital; Histidine; Humans; Infant; Loss of Function Mutation; Male; Megalencephaly; Proteins; Ribosomes; Saccharomyces cerevisiae; Syndrome

2020
Cresyl saligenin phosphate makes multiple adducts on free histidine, but does not form an adduct on histidine 438 of human butyrylcholinesterase.
    Chemico-biological interactions, 2013, Mar-25, Volume: 203, Issue:1

    Topics: Aerospace Medicine; Aircraft; Butyrylcholinesterase; Catalytic Domain; Cholinesterase Inhibitors; Fuel Oils; Histidine; Humans; Organophosphorus Compounds; Spectrometry, Mass, Matrix-Assisted Laser Desorption-Ionization; Syndrome

2013
Type two hyper-IgM syndrome caused by mutation in activation-induced cytidine deaminase.
    Journal of medical and dental sciences, 2003, Volume: 50, Issue:1

    Topics: Adult; Arginine; B-Lymphocytes; CD40 Ligand; Child, Preschool; Consanguinity; Cytidine Deaminase; DNA Mutational Analysis; Female; Histidine; Humans; Hypergammaglobulinemia; Immunoglobulin Class Switching; Immunoglobulin M; Infant; Japan; Male; Middle Aged; Mutation; Siblings; Somatic Hypermutation, Immunoglobulin; Syndrome

2003
FOXL2 mutations in Chinese patients with blepharophimosis-ptosis-epicanthus inversus syndrome.
    Molecular vision, 2007, Jan-26, Volume: 13

    Topics: Asian People; Blepharophimosis; Blepharoptosis; Cysteine; Cytosine; Eye Abnormalities; Eyelids; Forkhead Box Protein L2; Forkhead Transcription Factors; Guanine; Heterozygote; Histidine; Humans; Mutation; Mutation, Missense; Polymorphism, Single-Stranded Conformational; Serine; Syndrome; Thymine; Tyrosine

2007
Diaphragmatic hernia in Denys-Drash syndrome.
    American journal of medical genetics, 1995, May-22, Volume: 57, Issue:1

    Topics: Animals; Arginine; Base Sequence; Chromosomes, Human, Pair 11; Disorders of Sex Development; DNA-Binding Proteins; Exons; Female; Gene Deletion; Genes, Tumor Suppressor; Gonadal Dysgenesis; Hernia, Diaphragmatic; Heterozygote; Histidine; Homozygote; Humans; Infant, Newborn; Kidney Glomerulus; Mice; Mice, Transgenic; Molecular Sequence Data; Ovary; Point Mutation; Syndrome; Transcription Factors; WT1 Proteins

1995
[Familial form of partial androgen insensitivity (Reifenstein syndrome): arginine-histidine mutation in position 840 in the androgen receptor].
    Comptes rendus des seances de la Societe de biologie et de ses filiales, 1993, Volume: 187, Issue:4

    Topics: Arginine; Disorders of Sex Development; Exons; Histidine; Humans; Male; Mutation; Receptors, Androgen; Syndrome

1993
1H-NMR spectroscopic analysis of human urine: periodic variation of trimethylamine oxide excretion.
    Physiological chemistry and physics and medical NMR, 1993, Volume: 25, Issue:3

    Topics: Adult; Creatinine; Female; Histidine; Humans; Hydrogen; Hydrogen-Ion Concentration; Magnetic Resonance Spectroscopy; Methylamines; Oxidants; Periodicity; Syndrome; Urine

1993
Single amino acid substitution (840Arg-->His) in the hormone-binding domain of the androgen receptor leads to incomplete androgen insensitivity syndrome associated with a thermolabile androgen receptor.
    European journal of endocrinology, 1994, Volume: 130, Issue:6

    Topics: Androgen-Insensitivity Syndrome; Androgens; Arginine; Base Sequence; Cells, Cultured; Child, Preschool; DNA; Exons; Female; Fibroblasts; Histidine; Hot Temperature; Humans; Infant; Male; Molecular Sequence Data; Pedigree; Point Mutation; Receptors, Androgen; Restriction Mapping; Syndrome

1994
Kinetic analysis of a mutant (His107-->Tyr) responsible for human carbonic anhydrase II deficiency syndrome.
    The Journal of biological chemistry, 1993, Mar-05, Volume: 268, Issue:7

    Topics: Animals; Base Sequence; Carbonic Anhydrases; Catalysis; Cattle; Cloning, Molecular; DNA; Escherichia coli; Histidine; Humans; Hydrogen-Ion Concentration; Kinetics; Models, Molecular; Molecular Sequence Data; Mutation; Protein Conformation; Syndrome; Tyrosine

1993
Long-term audiological feature in Pendred syndrome caused by PDS mutation.
    Archives of otolaryngology--head & neck surgery, 2001, Volume: 127, Issue:6

    Topics: Adult; Arginine; Biological Transport; Carrier Proteins; Chromosomes, Human, Pair 7; Disease Progression; DNA Mutational Analysis; Evoked Potentials, Auditory, Brain Stem; Female; Goiter; Hearing Loss, Sensorineural; Histidine; Humans; Magnetic Resonance Imaging; Membrane Transport Proteins; Mutation, Missense; Sulfate Transporters; Syndrome; Time Factors; Vestibular Aqueduct

2001
Phenotypes associated with replacement of His by Arg in the Pendred syndrome gene.
    European journal of endocrinology, 2001, Volume: 145, Issue:6

    Topics: Adolescent; Adult; Alleles; Amino Acid Substitution; Arginine; Carrier Proteins; Child; Endolymphatic Duct; Endolymphatic Sac; Female; Goiter; Hearing Loss, Sensorineural; Heterozygote; Histidine; Homozygote; Humans; Iodides; Iodine; Magnetic Resonance Imaging; Male; Membrane Transport Proteins; Mutation; Mutation, Missense; Phenotype; RNA Splicing; Sequence Analysis, DNA; Sulfate Transporters; Syndrome; Thyroglobulin; Vestibular Aqueduct

2001
3-Methylhistidine excretion as an index of myofibrillar protein catabolism in neuromuscular disease.
    Journal of neurology, neurosurgery, and psychiatry, 1979, Volume: 42, Issue:6

    Topics: Histidine; Humans; Hyperthyroidism; Methylhistidines; Muscle Proteins; Muscular Dystrophies; Myofibrils; Myositis; Myotonic Dystrophy; Neuromuscular Diseases; Syndrome

1979
Amino acid and protein metabolism in renal failure.
    The American journal of clinical nutrition, 1978, Volume: 31, Issue:9

    Topics: Amino Acids; Dietary Proteins; Histidine; Hormones; Humans; Kidney; Kidney Failure, Chronic; Male; Phenylalanine; Proteins; Renal Dialysis; Syndrome; Toxins, Biological; Uremia

1978
A syndrome of acute zinc loss. Cerebellar dysfunction, mental changes, anorexia, and taste and smell dysfunction.
    Archives of neurology, 1975, Volume: 32, Issue:11

    Topics: Adult; Anorexia; Cerebellar Diseases; Child; Female; Histidine; Humans; Mental Disorders; Metabolic Diseases; Middle Aged; Olfaction Disorders; Scleroderma, Systemic; Syndrome; Taste Disorders; Zinc

1975
Joubert's syndrome, ocular fibrosis, and normal histidine levels.
    American journal of ophthalmology, 1992, Jun-15, Volume: 113, Issue:6

    Topics: Cerebellum; Female; Fibrosis; Histidine; Humans; Infant; Magnetic Resonance Imaging; Nystagmus, Pathologic; Retinal Degeneration; Strabismus; Syndrome

1992
Carbonic anhydrase II deficiency syndrome in a Belgian family is caused by a point mutation at an invariant histidine residue (107 His----Tyr): complete structure of the normal human CA II gene.
    American journal of human genetics, 1991, Volume: 49, Issue:5

    Topics: Base Sequence; Blotting, Western; Carbonic Anhydrases; Cloning, Molecular; Deoxyribonucleotides; DNA; DNA Mutational Analysis; Histidine; Humans; Hydrogen Bonding; Male; Molecular Sequence Data; Mutagenesis; Mutation; Restriction Mapping; Syndrome

1991
Joubert's syndrome associated with congenital ocular fibrosis and histidinemia.
    Archives of neurology, 1989, Volume: 46, Issue:5

    Topics: Ataxia; Cerebellum; Developmental Disabilities; Female; Fibrosis; Histidine; Humans; Infant; Muscular Diseases; Oculomotor Muscles; Psychomotor Performance; Respiration Disorders; Syndrome; Tomography, X-Ray Computed

1989
Depletion of histidine and tryptophan serum levels in porphyria cutanea tarda and congenital erythropoietic porphyria patients after irradiation with visible light.
    Photo-dermatology, 1986, Volume: 3, Issue:2

    Topics: Blood; Erythropoiesis; Female; Histidine; Humans; In Vitro Techniques; Light; Male; Photosensitivity Disorders; Porphyrias; Skin Diseases; Syndrome; Tryptophan

1986
Urinary metabolic screening of mentally retarded patients from institutions in the northern part of Sweden.
    Human heredity, 1973, Volume: 23, Issue:6

    Topics: Abnormalities, Multiple; Adolescent; Adult; Amino Acids; Child; Eye Diseases; Female; Glycine; Glycosaminoglycans; Histidine; Homocystinuria; Humans; Intellectual Disability; Lysine; Male; Mass Screening; Phenylketonurias; Renal Aminoacidurias; Sweden; Syndrome

1973
Urinary metabolic studies in hereditary macular degeneration.
    Acta ophthalmologica, 1974, Volume: 52, Issue:2

    Topics: Albuminuria; Amino Acids; Carbohydrates; Cystinuria; Electrophoresis, Paper; Female; Glycosuria; Histidine; Humans; Keto Acids; Male; Pedigree; Phenylketonurias; Retinal Degeneration; Syndrome; Tyrosine

1974
Amino acid abnormality in Sjögren-Larsson syndrome.
    Archives of neurology, 1973, Volume: 28, Issue:3

    Topics: Adolescent; Amino Acid Metabolism, Inborn Errors; Dental Enamel Hypoplasia; Epilepsy; Ethylamines; Glutamine; Glycine; Histidine; Humans; Ichthyosis; Intellectual Disability; Isoleucine; Leucine; Lysine; Male; Muscle Spasticity; Retinal Degeneration; Serine; Syndrome; Valine

1973