threonine has been researched along with Syndrome in 15 studies
| Timeframe | Studies, this research(%) | All Research% |
|---|---|---|
| pre-1990 | 0 (0.00) | 18.7374 |
| 1990's | 2 (13.33) | 18.2507 |
| 2000's | 12 (80.00) | 29.6817 |
| 2010's | 1 (6.67) | 24.3611 |
| 2020's | 0 (0.00) | 2.80 |
| Authors | Studies |
|---|---|
| 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, C | 1 |
| Alonso, A; Alvarez, A; Barreiro, J; Cabanas, P; Castro-Feijóo, L; Domínguez, F; Loidi, L; Parajes, S; Pombo, M; Rosón, E; Vidal, A | 1 |
| Coletta, RD; Line, SR; Martelli-Júnior, H; Oliveira Swerts, MS; Paranaíba, LM | 1 |
| Cranston, T; Gaynor, KU; Gomes, T; Gortner, L; Grigorieva, IV; Nesbit, MA; Thakker, RV | 1 |
| Li, TJ; Pan, S; Sun, LS; Xu, LL | 1 |
| Gautschi, I; Hannila-Handelberg, T; Hiltunen, TP; Kantola, I; Kontula, K; Petäjäniemi, N; Schild, L; Tikkanen, I; Virtamo, J | 1 |
| Borck, G; Martiné, U; Pohlenz, J; Roth, C; Wildhardt, G | 1 |
| Feng, H; Wang, Y; Zhang, X; Zhao, H | 1 |
| Naito, K; Shiraishi, K | 1 |
| Biaggioni, I; Byrne, DW; Cascorbi, I; Garland, EM; Harris, PA; Jiang, L; Phillips, JA; Robertson, D; Rüdiger, H; Stanton, K; Williams, SM; Winker, R | 1 |
| Baracca, A; Carelli, V; Lenaz, G; Sgarbi, G; Solaini, G; Valentino, LM | 1 |
| Ahn, BD; Kim, JW; Kim, YJ; Lee, SH; Lee, SJ; Lee, SK; Lee, ZH | 1 |
| Cato, AC; Gast, A; Klocker, H; Neuschmid-Kaspar, F | 1 |
| Chalmers, RA; Dolphin, CT; Holmes, HC; Iles, RA; Janmohamed, A; Michelakakis, H; Murphy, HC; Phillips, IR; Shephard, EA | 1 |
| Antonini, A; Bellezza, M; Cathala, B; Fellahi, JL; Richard, JP; Thouvenot, JP | 1 |
15 other study(ies) available for threonine and Syndrome
| Article | Year |
|---|---|
Prevalent polymorphism in thyroid hormone-activating enzyme leaves a genetic fingerprint that underlies associated clinical syndromes.
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?
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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].
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 |