threonine and Syndrome

threonine has been researched along with Syndrome in 15 studies

Research

Studies (15)

TimeframeStudies, this research(%)All Research%
pre-19900 (0.00)18.7374
1990's2 (13.33)18.2507
2000's12 (80.00)29.6817
2010's1 (6.67)24.3611
2020's0 (0.00)2.80

Authors

AuthorsStudies
Bianco, AC; Deng, Y; Egri, P; Farkas, E; Fekete, C; Gereben, B; Jo, S; Li, Y; Mash, DC; McAninch, EA; Mohácsik, P; Patti, ME; Peeters, RP; Preite, NZ; Zevenbergen, C1
Alonso, A; Alvarez, A; Barreiro, J; Cabanas, P; Castro-Feijóo, L; Domínguez, F; Loidi, L; Parajes, S; Pombo, M; Rosón, E; Vidal, A1
Coletta, RD; Line, SR; Martelli-Júnior, H; Oliveira Swerts, MS; Paranaíba, LM1
Cranston, T; Gaynor, KU; Gomes, T; Gortner, L; Grigorieva, IV; Nesbit, MA; Thakker, RV1
Li, TJ; Pan, S; Sun, LS; Xu, LL1
Gautschi, I; Hannila-Handelberg, T; Hiltunen, TP; Kantola, I; Kontula, K; Petäjäniemi, N; Schild, L; Tikkanen, I; Virtamo, J1
Borck, G; Martiné, U; Pohlenz, J; Roth, C; Wildhardt, G1
Feng, H; Wang, Y; Zhang, X; Zhao, H1
Naito, K; Shiraishi, K1
Biaggioni, I; Byrne, DW; Cascorbi, I; Garland, EM; Harris, PA; Jiang, L; Phillips, JA; Robertson, D; Rüdiger, H; Stanton, K; Williams, SM; Winker, R1
Baracca, A; Carelli, V; Lenaz, G; Sgarbi, G; Solaini, G; Valentino, LM1
Ahn, BD; Kim, JW; Kim, YJ; Lee, SH; Lee, SJ; Lee, SK; Lee, ZH1
Cato, AC; Gast, A; Klocker, H; Neuschmid-Kaspar, F1
Chalmers, RA; Dolphin, CT; Holmes, HC; Iles, RA; Janmohamed, A; Michelakakis, H; Murphy, HC; Phillips, IR; Shephard, EA1
Antonini, A; Bellezza, M; Cathala, B; Fellahi, JL; Richard, JP; Thouvenot, JP1

Other Studies

15 other study(ies) available for threonine and Syndrome

ArticleYear
Prevalent polymorphism in thyroid hormone-activating enzyme leaves a genetic fingerprint that underlies associated clinical syndromes.
    The Journal of clinical endocrinology and metabolism, 2015, Volume: 100, Issue:3

    Topics: Adult; Alanine; Amino Acid Substitution; Case-Control Studies; Cerebral Cortex; Gene Frequency; HEK293 Cells; HeLa Cells; Humans; Iodide Peroxidase; Iodothyronine Deiodinase Type II; Male; Microarray Analysis; Nervous System Diseases; Oxidative Stress; Polymorphism, Single Nucleotide; Syndrome; Threonine; Thyroid Diseases; Transcriptome

2015
Hypochondroplasia and Acanthosis nigricans: a new syndrome due to the p.Lys650Thr mutation in the fibroblast growth factor receptor 3 gene?
    European journal of endocrinology, 2008, Volume: 159, Issue:3

    Topics: Acanthosis Nigricans; Adolescent; Amino Acid Substitution; Base Sequence; Body Height; DNA Mutational Analysis; Humans; Lysine; Male; Mutation, Missense; Osteochondrodysplasias; Pedigree; Polymorphism, Single Nucleotide; Receptor, Fibroblast Growth Factor, Type 3; Syndrome; Threonine

2008
Novel mutations in the IRF6 gene in Brazilian families with Van der Woude syndrome.
    International journal of molecular medicine, 2008, Volume: 22, Issue:4

    Topics: Alanine; American Indian or Alaska Native; Amino Acid Sequence; Base Sequence; Brazil; Craniofacial Abnormalities; DNA Mutational Analysis; Electrophoresis, Agar Gel; Family; Humans; Interferon Regulatory Factors; Molecular Sequence Data; Mutation; Restriction Mapping; Syndrome; Threonine

2008
A missense GATA3 mutation, Thr272Ile, causes the hypoparathyroidism, deafness, and renal dysplasia syndrome.
    The Journal of clinical endocrinology and metabolism, 2009, Volume: 94, Issue:10

    Topics: Amino Acid Sequence; Blotting, Western; Deafness; DNA Mutational Analysis; Electrophoretic Mobility Shift Assay; Fluorescent Antibody Technique; GATA3 Transcription Factor; Humans; Hypoparathyroidism; Immunohistochemistry; Infant; Isoleucine; Kidney; Kidney Diseases; Male; Molecular Sequence Data; Mutation, Missense; Syndrome; Threonine

2009
Identification of known and novel PTCH mutations in both syndromic and non-syndromic keratocystic odontogenic tumors.
    International journal of oral science, 2009, Volume: 1, Issue:1

    Topics: Adolescent; Adult; Amino Acid Sequence; Basal Cell Nevus Syndrome; Chromatography, High Pressure Liquid; Codon, Nonsense; Codon, Terminator; Conserved Sequence; Cytosine; Exons; Female; Frameshift Mutation; Gene Duplication; Germ-Line Mutation; Guanine; Humans; Male; Middle Aged; Mutation; Mutation, Missense; Odontogenic Tumors; Patched Receptors; Patched-1 Receptor; Receptors, Cell Surface; Reverse Transcriptase Polymerase Chain Reaction; Sequence Deletion; Syndrome; Threonine; Thymine

2009
Liddle's syndrome associated with a point mutation in the extracellular domain of the epithelial sodium channel gamma subunit.
    Journal of hypertension, 2002, Volume: 20, Issue:12

    Topics: Adult; Amino Acid Sequence; Animals; Asparagine; Base Sequence; Epithelial Sodium Channels; Female; Genes, Dominant; Humans; Hypertension; Hypokalemia; Male; Molecular Sequence Data; Oocytes; Pedigree; Point Mutation; Serine; Sodium Channels; Syndrome; Threonine; Xenopus

2002
Mutations in the PDS gene in German families with Pendred's syndrome: V138F is a founder mutation.
    The Journal of clinical endocrinology and metabolism, 2003, Volume: 88, Issue:6

    Topics: Adolescent; Amino Acid Substitution; Base Sequence; Carrier Proteins; Child; Child, Preschool; Female; Founder Effect; Germany; Haplotypes; Hearing Loss, Sensorineural; Humans; Hypothyroidism; Infant, Newborn; Male; Membrane Transport Proteins; Mutation, Missense; Pedigree; Serine; Sulfate Transporters; Syndrome; Threonine; Turkey

2003
Novel identification of a four-base-pair deletion mutation in PITX2 in a Rieger syndrome family.
    Journal of dental research, 2003, Volume: 82, Issue:12

    Topics: Adolescent; Adult; Aged; Anodontia; Base Pairing; Base Sequence; Child; China; Codon, Terminator; Craniofacial Abnormalities; Exons; Female; Frameshift Mutation; Homeobox Protein PITX2; Homeodomain Proteins; Humans; Male; Mutation; Pedigree; Phenotype; Sequence Deletion; Syndrome; Threonine; Tooth Abnormalities; Transcription Factors

2003
Fertile eunuch syndrome with the mutations (Trp8Arg and Ile15Thr) in the beta subunit of luteinizing hormone.
    Endocrine journal, 2003, Volume: 50, Issue:6

    Topics: Adolescent; Arginine; Base Sequence; Biopsy; DNA; Eunuchism; Fertility; Gene Amplification; Genitalia, Male; Humans; Isoleucine; Luteinizing Hormone, beta Subunit; Male; Mutation; Osmolar Concentration; Polymerase Chain Reaction; Syndrome; Testis; Testosterone; Threonine; Tryptophan

2003
Endothelial NO synthase polymorphisms and postural tachycardia syndrome.
    Hypertension (Dallas, Tex. : 1979), 2005, Volume: 46, Issue:5

    Topics: Adolescent; Adult; Alleles; Aspartic Acid; Case-Control Studies; Cysteine; Female; Genotype; Glutamic Acid; Heart Rate; Homozygote; Humans; Male; Middle Aged; Nitric Oxide Synthase Type III; Norepinephrine; Polymorphism, Genetic; Posture; Severity of Illness Index; Syndrome; Tachycardia; Threonine

2005
Inefficient coupling between proton transport and ATP synthesis may be the pathogenic mechanism for NARP and Leigh syndrome resulting from the T8993G mutation in mtDNA.
    The Biochemical journal, 2006, May-01, Volume: 395, Issue:3

    Topics: Adenosine Triphosphate; Cell Membrane Permeability; Cells, Cultured; Digitonin; DNA, Mitochondrial; Female; Humans; Ion Transport; Leigh Disease; Male; Mutation; Pedigree; Protons; Retinitis Pigmentosa; Substrate Specificity; Syndrome; Threonine

2006
DLX3 mutation in a new family and its phenotypic variations.
    Journal of dental research, 2008, Volume: 87, Issue:4

    Topics: Amelogenesis Imperfecta; Child; Codon; Cysteine; Dental Enamel Hypoplasia; Dental Pulp Cavity; Frameshift Mutation; Hair; Homeodomain Proteins; Humans; Male; Nails, Malformed; Pedigree; Phenotype; Sequence Deletion; Syndrome; Threonine; Transcription Factors

2008
A single amino acid exchange abolishes dimerization of the androgen receptor and causes Reifenstein syndrome.
    Molecular and cellular endocrinology, 1995, Apr-28, Volume: 111, Issue:1

    Topics: Alanine; Base Sequence; Binding Sites; Cell Line; DNA; Humans; Macromolecular Substances; Molecular Sequence Data; Mutation; Protein Conformation; Receptors, Androgen; Structure-Activity Relationship; Syndrome; Threonine

1995
A novel mutation in the flavin-containing monooxygenase 3 gene, FM03, that causes fish-odour syndrome: activity of the mutant enzyme assessed by proton NMR spectroscopy.
    Pharmacogenetics, 2000, Volume: 10, Issue:5

    Topics: Adult; Alleles; Amino Acid Sequence; Amino Acid Substitution; Base Sequence; Child, Preschool; Female; Genetic Diseases, Inborn; Genotype; Humans; Infant; Methylamines; Molecular Sequence Data; Mutation; Nuclear Magnetic Resonance, Biomolecular; Odorants; Oxygenases; Sequence Analysis, DNA; Syndrome; Threonine

2000
[The intravascular transfer of glycine during percutaneous kidney surgery].
    Cahiers d'anesthesiologie, 1992, Volume: 40, Issue:5

    Topics: Adolescent; Adult; Aged; Aged, 80 and over; Female; Glycine; Hemodilution; Humans; Male; Middle Aged; Nephrostomy, Percutaneous; Prospective Studies; Serine; Sodium; Syndrome; Therapeutic Irrigation; Threonine

1992