valine and Syndrome

valine has been researched along with Syndrome in 21 studies

Research

Studies (21)

TimeframeStudies, this research(%)All Research%
pre-19903 (14.29)18.7374
1990's5 (23.81)18.2507
2000's10 (47.62)29.6817
2010's2 (9.52)24.3611
2020's1 (4.76)2.80

Authors

AuthorsStudies
Andersen, PM; Basal, A; Daana, M; Edvardson, S; Ezer, S; Harel, T; Marklund, SL; Meiner, V; Nordström, U; Otto, M; Park, JH; Saada, A; Yanovsky-Dagan, S1
Cens, T; Charnet, P; Leyris, JP1
Berg, C; Bonatti, H; Brayman, K; Flohr, T; Frierson, H; Harmon, RC; Lobo, P; Pruett, T; Sawyer, R; Schmitt, T; Sifri, CD1
Cloutier, S; Duan, Z; Jackson, SC; Poon, MC; Rand, ML; Sinclair, GD1
Hattersley, AT; Jones, AG1
Itoh, S; Matsuoka, H; Miyake, N; Sugihara, S; Suzuki, K; Yasuda, Y; Yorifuji, T1
Drenth, JP; Mariman, EC; Simon, A; van der Meer, JW1
Hasenfuss, G1
Diaz, GA; Koelle, DM; Rakita, RM1
Abdulsabur, N; Antshel, KM; Colgan, D; Fremont, W; Funke, B; Higgins, AM; Kates, WR; Kucherlapati, R; Shprintzen, RJ1
Beani, JC; Boujet, C; Lantuejoul, S; Leccia, MT; Nguyen, MA; Reymond, JL; Templier, I1
Bassett, AS; Caluseriu, O; Chow, EW; Weksberg, R; Young, DA1
Haji, M; Nakao, R; Nawata, H; Sakai, Y; Yanase, T1
Adams, M; Cavaillès, V; Chatterjee, VK; Collingwood, TN; Fletterick, RJ; Kalkhoven, E; Lindstedt, G; Matthews, C; Nystrom, E; Parker, MG; Rajanayagam, O; Stenlof, K; Tisell, L; Wagner, R1
Millar, AB; Thickett, DR1
Groop, L; Klannemark, M; Orho, M1
Arveiler, D; Aumont, MC; de Prost, D; Desprez, S; Dhermy, D; Evans, A; Fumeron, F; Galand, C; Garbarz, M; Hakim, J; Luc, G; Moatti, D; Ollivier, V; Poirier, O; Ruidavets, JB; Seknadji, P1
Beavis, RC; Bugiani, O; Frangione, B; Ghetti, B; Giaccone, G; Lievens, PM; Mohr, M; Perini, F; Piccardo, P; Prelli, F; Rossi, G; Salmona, M; Tagliavini, F; Tranchant, C; Warter, JM1
Porath, U; Schreier, K1
Ionasescu, V; Mueller, S; Stegink, L; Weinstein, M1
Brooksby, GA; Chackerian, MJ; Leon, HA; Staley, RW1

Reviews

1 review(s) available for valine and Syndrome

ArticleYear
[Congenital metabolic acidosis in the postnatal period].
    Deutsche medizinische Wochenschrift (1946), 1978, Jun-02, Volume: 103, Issue:22

    Topics: Acidosis; Amino Acid Metabolism, Inborn Errors; Fructose-1,6-Diphosphatase Deficiency; Glutarates; Glycogen Storage Disease Type I; Humans; Hyperglycemia; Infant, Newborn; Isoleucine; Ketosis; Lactates; Leucine; Leukoencephalitis, Acute Hemorrhagic; Methylmalonic Acid; Propionates; Syndrome; Thiamine; Valerates; Valine

1978

Trials

1 trial(s) available for valine and Syndrome

ArticleYear
[AT(1) blocker for post-infarct therapy. VALIANT Study].
    Der Internist, 2004, Volume: 45, Issue:8

    Topics: Adult; Aged; Angiotensin II Type 1 Receptor Blockers; Angiotensin-Converting Enzyme Inhibitors; Captopril; Cause of Death; Double-Blind Method; Drug Therapy, Combination; Female; Follow-Up Studies; Humans; Male; Middle Aged; Myocardial Infarction; Survival Analysis; Syndrome; Tetrazoles; Treatment Outcome; Valine; Valsartan; Ventricular Dysfunction, Left

2004

Other Studies

19 other study(ies) available for valine and Syndrome

ArticleYear
Infantile SOD1 deficiency syndrome caused by a homozygous SOD1 variant with absence of enzyme activity.
    Brain : a journal of neurology, 2022, 04-29, Volume: 145, Issue:3

    Topics: Amyotrophic Lateral Sclerosis; DNA, Complementary; Humans; Infant; Mutation; Superoxide Dismutase; Superoxide Dismutase-1; Syndrome; Valine

2022
Introduction into Ca(v)2.1 of the homologous mutation of Ca(v)1.2 causing the Timothy syndrome questions the role of V421 in the phenotypic definition of P-type Ca(2+) channel.
    Pflugers Archiv : European journal of physiology, 2008, Volume: 457, Issue:2

    Topics: Alanine; Animals; Arginine; Arrhythmias, Cardiac; Calcium; Calcium Channels, L-Type; Calcium Channels, N-Type; Calcium Channels, R-Type; Cation Transport Proteins; Cognition Disorders; Genotype; Glutamic Acid; Glycine; GTP-Binding Proteins; Ion Channel Gating; Kinetics; Membrane Potentials; Mutation; Phenotype; Rats; Syndrome; Valine; Xenopus

2008
Herpes simplex virus hepatitis after renal transplantation.
    Transplant infectious disease : an official journal of the Transplantation Society, 2008, Volume: 10, Issue:5

    Topics: Abnormalities, Multiple; Acute Disease; Acyclovir; Antiviral Agents; Drug Therapy, Combination; False Negative Reactions; Female; Hepatitis, Viral, Human; Humans; Immunohistochemistry; Injections, Intravenous; Kidney Transplantation; Liver; Polymerase Chain Reaction; Simplexvirus; Syndrome; Urogenital Abnormalities; Valacyclovir; Valine; Young Adult

2008
The Montreal platelet syndrome kindred has type 2B von Willebrand disease with the VWF V1316M mutation.
    Blood, 2009, Apr-02, Volume: 113, Issue:14

    Topics: Amino Acid Substitution; Blood Coagulation Tests; Blood Platelet Disorders; Blood Platelets; DNA Mutational Analysis; Family; Female; Humans; Male; Methionine; Mutation, Missense; Pedigree; Platelet Aggregation; Syndrome; Valine; von Willebrand Diseases; von Willebrand Factor

2009
Reevaluation of a case of type 1 diabetes mellitus diagnosed before 6 months of age.
    Nature reviews. Endocrinology, 2010, Volume: 6, Issue:6

    Topics: Administration, Oral; Adolescent; Amino Acid Substitution; Developmental Disabilities; Diabetes Mellitus, Type 1; Dose-Response Relationship, Drug; Epilepsy; Female; Glyburide; Glycated Hemoglobin; Humans; Hypoglycemic Agents; Infant; Methionine; Mutation; Potassium Channels, Inwardly Rectifying; Syndrome; Valine

2010
DEND syndrome due to V59A mutation in KCNJ11 gene: unresponsive to sulfonylureas.
    Journal of pediatric endocrinology & metabolism : JPEM, 2013, Volume: 26, Issue:1-2

    Topics: Alanine; Amino Acid Substitution; Diabetes Mellitus; Epilepsies, Myoclonic; Female; Humans; Hypoglycemic Agents; Infant; Mutation, Missense; Potassium Channels, Inwardly Rectifying; Sulfonylurea Compounds; Syndrome; Treatment Failure; Valine

2013
A founder effect in the hyperimmunoglobulinemia D and periodic fever syndrome.
    The American journal of medicine, 2003, Feb-01, Volume: 114, Issue:2

    Topics: Alleles; Europe; Familial Mediterranean Fever; Female; Founder Effect; Humans; Hypergammaglobulinemia; Immunoglobulin D; Isoleucine; Linkage Disequilibrium; Male; Pedigree; Syndrome; Valine

2003
A case of Ramsay Hunt-like syndrome caused by herpes simplex virus type 2.
    Clinical infectious diseases : an official publication of the Infectious Diseases Society of America, 2005, May-15, Volume: 40, Issue:10

    Topics: Acyclovir; Adolescent; Adult; Antiviral Agents; Female; Foscarnet; Herpes Zoster Oticus; Herpesvirus 2, Human; Humans; Syndrome; Valacyclovir; Valine

2005
A gender-moderated effect of a functional COMT polymorphism on prefrontal brain morphology and function in velo-cardio-facial syndrome (22q11.2 deletion syndrome).
    American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics, 2006, Apr-05, Volume: 141B, Issue:3

    Topics: Abnormalities, Multiple; Adolescent; Alleles; Brain; Catechol O-Methyltransferase; Child; Chromosome Deletion; Chromosomes, Human, Pair 22; Cognition; DNA Mutational Analysis; Face; Female; Gene Frequency; Genotype; Heart Defects, Congenital; Humans; Magnetic Resonance Imaging; Male; Methionine; Neuropsychological Tests; Polymorphism, Genetic; Sex Factors; Syndrome; Task Performance and Analysis; Valine; Velopharyngeal Insufficiency

2006
[Acrodermatitis enteropathica-like syndrome secondary to branched-chain amino acid deficiency during treatment of maple syrup urine disease].
    Annales de dermatologie et de venereologie, 2006, Volume: 133, Issue:4

    Topics: Acrodermatitis; Female; Humans; Infant; Isoleucine; Maple Syrup Urine Disease; Syndrome; Valine

2006
Catechol-O-methyl transferase and expression of schizophrenia in 73 adults with 22q11 deletion syndrome.
    Biological psychiatry, 2007, May-15, Volume: 61, Issue:10

    Topics: Adult; Alleles; Amino Acid Substitution; Arousal; Chromosome Deletion; Chromosomes, Human, Pair 22; Female; Frontal Lobe; Gene Expression; Genetic Carrier Screening; Genetic Predisposition to Disease; Genotype; Humans; Male; Methionine; Middle Aged; Neuropsychological Tests; Polymorphism, Single Nucleotide; Psychiatric Status Rating Scales; Schizophrenia; Syndrome; Valine

2007
A single amino acid substitution (gly743 --> val) in the steroid-binding domain of the human androgen receptor leads to Reifenstein syndrome.
    The Journal of clinical endocrinology and metabolism, 1993, Volume: 77, Issue:1

    Topics: Adult; Androgens; Base Sequence; Binding Sites; Blotting, Western; Cells, Cultured; Disorders of Sex Development; DNA; Fibroblasts; Glycine; Hot Temperature; Humans; Male; Molecular Sequence Data; Mutagenesis, Site-Directed; Mutation; Receptors, Androgen; Syndrome; Transfection; Valine

1993
A natural transactivation mutation in the thyroid hormone beta receptor: impaired interaction with putative transcriptional mediators.
    Proceedings of the National Academy of Sciences of the United States of America, 1997, Jan-07, Volume: 94, Issue:1

    Topics: Adaptor Proteins, Signal Transducing; Adult; Binding Sites; Dimerization; DNA-Binding Proteins; Genes, Reporter; Histone Acetyltransferases; Humans; Leucine; Models, Molecular; Mutation; Nuclear Proteins; Nuclear Receptor Coactivator 1; Nuclear Receptor Interacting Protein 1; Protein Binding; Receptors, Thyroid Hormone; Recombinant Proteins; Syndrome; Thyroid Hormone Resistance Syndrome; Thyroid Hormones; Transcription Factors; Transcription, Genetic; Transcriptional Activation; Valine

1997
Drug-induced antisynthetase syndrome.
    Postgraduate medical journal, 1997, Volume: 73, Issue:857

    Topics: Aged; Angiotensin II; Angiotensin Receptor Antagonists; Anti-Inflammatory Agents; Arthritis; Autoantibodies; Autoimmune Diseases; Cytoskeleton; Humans; Male; Prednisolone; Pulmonary Fibrosis; Raynaud Disease; Skin Diseases; Syndrome; Tetrazoles; Valine; Valsartan

1997
No relationship between identified variants in the uncoupling protein 2 gene and energy expenditure.
    European journal of endocrinology, 1998, Volume: 139, Issue:2

    Topics: Aged; Alanine; Amino Acid Substitution; Energy Metabolism; Exons; Female; Genetic Variation; Genotype; Humans; Introns; Ion Channels; Male; Membrane Transport Proteins; Middle Aged; Mitochondrial Proteins; Molecular Sequence Data; Obesity; Polymorphism, Single-Stranded Conformational; Proteins; Syndrome; Uncoupling Protein 2; Valine

1998
Polymorphisms of the tissue factor pathway inhibitor (TFPI) gene in patients with acute coronary syndromes and in healthy subjects : impact of the V264M substitution on plasma levels of TFPI.
    Arteriosclerosis, thrombosis, and vascular biology, 1999, Volume: 19, Issue:4

    Topics: Acute Disease; Adult; Aged; Amino Acid Sequence; Amino Acid Substitution; Angina, Unstable; Case-Control Studies; Coronary Disease; France; Gene Frequency; Genotype; Humans; Lipoproteins; Male; Methionine; Middle Aged; Molecular Sequence Data; Myocardial Infarction; Polymorphism, Genetic; Risk Factors; Syndrome; Valine

1999
A 7-kDa prion protein (PrP) fragment, an integral component of the PrP region required for infectivity, is the major amyloid protein in Gerstmann-Sträussler-Scheinker disease A117V.
    The Journal of biological chemistry, 2001, Feb-23, Volume: 276, Issue:8

    Topics: Adult; Alleles; Amyloid; Cerebral Cortex; Gerstmann-Straussler-Scheinker Disease; Heterozygote; Humans; Male; Methionine; Peptide Fragments; Prion Proteins; Prions; Protein Precursors; Sequence Analysis, Protein; Syndrome; Valine

2001
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
Nutritional and hormonal aspects of the oxygen toxicity syndrome.
    Aerospace medicine, 1971, Volume: 42, Issue:5

    Topics: Aerospace Medicine; Amino Acids; Animals; Atmospheric Pressure; Blood Glucose; Blood Proteins; Carbon Isotopes; Corticosterone; Eating; Growth; Insulin; Iodine; Liver; Male; Oxygen; Partial Pressure; Protein Binding; Protein Biosynthesis; Rats; Syndrome; Thyroid Hormones; Valine

1971