Page last updated: 2024-08-17

lysine and Syndrome

lysine has been researched along with Syndrome in 37 studies

Research

Studies (37)

TimeframeStudies, this research(%)All Research%
pre-199019 (51.35)18.7374
1990's4 (10.81)18.2507
2000's7 (18.92)29.6817
2010's6 (16.22)24.3611
2020's1 (2.70)2.80

Authors

AuthorsStudies
Al Ojaimi, M; Almannai, M; Banimortada, BJ; El-Hattab, AW; Othman, A; Riedhammer, KM1
Afenjar, A; Bienvenu, T; Billuart, P; Giurgea, I; Goldenberg, A; Hamroune, J; Lebrun, N; Mietton, L; Saintpierre, B1
Bespalova, NA; Durnovo, EA; Gliavina, IA; Iartseva, AV; Khomutinnikova, NE; Marochkina, MS; Shashurina, SV1
Andrews, C; Balasubramanian, R; Chan, WM; Chew, S; Engle, EC; Kang, PB; MacKinnon, SE1
Ajeawung, NF; Almannai, M; Baskin, B; Bi, W; Campeau, PM; Camurri, MV; Canham, N; Cho, MT; Fu, H; Gardham, A; Kiss, C; Lehman, A; Li, L; Littlejohn, RO; MacKenzie, JJ; McKinnon, M; Nguyen, TTM; Panis, B; Parker, MJ; Potjer, TP; Potocki, L; Robak, L; Roeder, ER; Rosenfeld, JA; Rousseau, J; Ruivenkamp, C; Sacoto, MJG; Santen, GWE; Scaglia, F; Stegmann, APA; Stumpel, CTR; Xia, F; Yan, K; Yang, XJ1
Alonso, A; Alvarez, A; Barreiro, J; Cabanas, P; Castro-Feijóo, L; Domínguez, F; Loidi, L; Parajes, S; Pombo, M; Rosón, E; Vidal, A1
Lee, WY; Wei, YH; Wu, SB; Wu, YT1
Bau, AE; de Zwart-Storm, EA; Foelster-Holst, R; Frank, J; Graziadio, C; Kamps, MA; Martin, PE; Paskulin, GA; Rosa, RF; van Geel, M; van Steensel, MA; Zen, PR1
NECCHIDELLASILVA, A; SEVERGNINI, B1
Bieganowski, P; Brenner, C; Seidle, HF1
Chaney, BA; Clark-Baldwin, K; Dave, V; Ma, J; Rance, M1
Abukawa, D; Endoh, M; Hama, A; Hayasaka, K; Igarashi, Y; Ito, E; Kanai, M; Kanno, M; Kawakami, T; Mitsui, T; Noro, M; Sendo, D; Shirahata, E; Tono, C; Tsuchiya, S1
Chmara, M; Cools, J; de Ravel, TJ; Denayer, E; Devriendt, K; Frijns, JP; Legius, E; Parret, A; Rybin, V; Scheffzek, K; Schubbert, S; Shannon, K; Vogels, A1
Bargatze, RF; Katz, DH; Liu, FT1
Heckenlively, J1
Bakkeren, JA; Corstiaensen, JM; Monnens, LA; Trijbels, JM; Van Raay-Selten, AH1
Schaub, E; Schmitz-Schumann, M; Virchow, C1
Arneson, DW; Tipton, RE; Ward, JC1
Bartolone, L; Benvenga, S; Filetti, S; Pontecorvi, A; Regalbuto, C; Trimarchi, F1
Andria, G; Borsani, G; Castaldo, P; Incerti, B; Rossi, E; Sebastio, G; Sperandeo, MP; Taglialatela, M; Zollo, M; Zuffardi, O1
Agustí, M; Carrero, EJ; Fábregas, N; Fernández, C; Valldeoriola, F1
Mickelson, JR; Purdy, AK; Santschi, EM; Vrotsos, PD1
Guerin, JC; Hominal, S; Louerat, C; Nesme, P; Perol, M1
Carter, RE; Claus-Walker, J; Di Ferrante, M; Singh, J1
Conn, M; Lockwood, AH; Wasterlain, CG1
Tada, K1
Shih, VE1
Amati, P; Antozzi, C; Bresolin, N; DiDonato, S; Piccolo, G; Toscano, A; Zeviani, M1
Botschner, J; Scriver, CR; Simell, O; Smith, DW1
Dancis, J; Hutzler, J1
Bachmann, C; Colombo, JP; Dionisi Vici, C; Gambarara, M; Sabetta, G1
Holmgren, G1
Hsia, YE1
Gilchrist, P; Hemsley, LA; Payne, CG; Pearson, JA1
Ionasescu, V; Mueller, S; Stegink, L; Weinstein, M1
Bartsocas, CS; Erbe, RW1
Adams, ED; Brown, JH; Fabre, LF; Farrell, GL1

Reviews

3 review(s) available for lysine and Syndrome

ArticleYear
Disorders of histone methylation: Molecular basis and clinical syndromes.
    Clinical genetics, 2022, Volume: 102, Issue:3

    Topics: Histone Demethylases; Histone Methyltransferases; Histone-Lysine N-Methyltransferase; Histones; Humans; Lysine; Methylation; Syndrome

2022
Mitochondrial respiratory dysfunction-elicited oxidative stress and posttranslational protein modification in mitochondrial diseases.
    Annals of the New York Academy of Sciences, 2010, Volume: 1201

    Topics: Acetylation; Animals; Disease Progression; DNA, Mitochondrial; Electron Transport; Humans; Lysine; Mitochondria; Mitochondrial Diseases; Mutation; Oxidative Stress; Phosphorylation; Protein Processing, Post-Translational; Syndrome; Ubiquitin

2010
Inherited hyperammonemic syndromes.
    Gastroenterology, 1974, Volume: 67, Issue:2

    Topics: Acidosis; Amino Acids; Ammonia; Animals; Arginine; Brain; Brain Diseases; Chemical and Drug Induced Liver Injury; Citrulline; Dementia; Homeostasis; Humans; Infant, Newborn; Liver; Lysine; Metabolism, Inborn Errors; Ornithine Carbamoyltransferase; Phosphotransferases; Succinates; Syndrome; Urea; Urease

1974

Trials

1 trial(s) available for lysine and Syndrome

ArticleYear
[The clinical estimation of ketoprofen lysine salt effect on the intensitivity of acute pain syndrome in the oral cavity during surgical procedures and postoperative period].
    Stomatologiia, 2013, Volume: 92, Issue:1

    Topics: Acute Pain; Adult; Anti-Inflammatory Agents, Non-Steroidal; Female; Humans; Ketoprofen; Lysine; Male; Middle Aged; Mouth; Oral Surgical Procedures; Pain Threshold; Syndrome; Young Adult

2013

Other Studies

33 other study(ies) available for lysine and Syndrome

ArticleYear
RNA Sequencing and Pathway Analysis Identify Important Pathways Involved in Hypertrichosis and Intellectual Disability in Patients with Wiedemann-Steiner Syndrome.
    Neuromolecular medicine, 2018, Volume: 20, Issue:3

    Topics: Adolescent; Adult; Child; Female; Fibroblasts; Gene Expression Regulation; Histone-Lysine N-Methyltransferase; Histones; Humans; Hypertrichosis; Intellectual Disability; Loss of Function Mutation; Lysine; Male; Methylation; Middle Aged; Myeloid-Lymphoid Leukemia Protein; Nitric Oxide Synthase Type III; Rare Diseases; Sequence Analysis, RNA; Signal Transduction; Syndrome; Transcription, Genetic; Young Adult

2018
Expanding the phenotypic spectrum and variability of endocrine abnormalities associated with TUBB3 E410K syndrome.
    The Journal of clinical endocrinology and metabolism, 2015, Volume: 100, Issue:3

    Topics: Adult; Aged; Amino Acid Substitution; Child; Child, Preschool; Developmental Disabilities; Endocrine System Diseases; Eye Diseases, Hereditary; Female; Fibrosis; Glutamic Acid; Humans; Kallmann Syndrome; Lysine; Male; Ophthalmoplegia; Pedigree; Phenotype; Syndrome; Tubulin

2015
Mutations in the Chromatin Regulator Gene BRPF1 Cause Syndromic Intellectual Disability and Deficient Histone Acetylation.
    American journal of human genetics, 2017, Jan-05, Volume: 100, Issue:1

    Topics: Acetylation; Adaptor Proteins, Signal Transducing; Adolescent; Alleles; Animals; Carrier Proteins; Child; Chromatin; Developmental Disabilities; DNA-Binding Proteins; Face; Female; Histone Acetyltransferases; Histones; Humans; Intellectual Disability; Lysine; Male; Mice; Mice, Inbred C57BL; Mice, Knockout; Muscle Hypotonia; Mutation; Nuclear Proteins; Syndrome

2017
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
Molecular analysis of connexin26 asparagine14 mutations associated with syndromic skin phenotypes.
    Experimental dermatology, 2011, Volume: 20, Issue:5

    Topics: Adult; Asparagine; Aspartic Acid; Cell Membrane; Child; Connexin 26; Connexins; Cytoplasm; Endoplasmic Reticulum; Female; Fluoresceins; Gap Junctions; Hearing Loss; HeLa Cells; Humans; Hypertrichosis; Keratoderma, Palmoplantar; Keratosis; Lysine; Male; Mutation, Missense; Nails, Malformed; Protein Transport; Skin; Skin Diseases; Syndrome; Transfection; Tyrosine

2011
[ON TREATMENT OF DYSPROTIDEMIC SYNDROMES IN GERIATRICS].
    Giornale di gerontologia, 1965, Volume: 13

    Topics: Anabolic Agents; Blood Protein Disorders; Carnitine; Geriatrics; Humans; Lysine; Steroids; Syndrome; Testosterone Congeners; Vitamin A; Vitamins

1965
Disease-associated mutations inactivate AMP-lysine hydrolase activity of Aprataxin.
    The Journal of biological chemistry, 2005, Jun-03, Volume: 280, Issue:22

    Topics: Adenosine Monophosphate; Alleles; Apraxias; Ataxia; Binding Sites; Blotting, Western; Cations; DNA Damage; DNA-Binding Proteins; Electrophoresis, Polyacrylamide Gel; Escherichia coli; Eye Diseases; Humans; Hydrogen-Ion Concentration; Hydrolases; Kinetics; Lysine; Metals; Motor Neuron Disease; Mutagenesis, Site-Directed; Mutation; Nuclear Proteins; Phenotype; Plasmids; Protein Binding; Protein Structure, Tertiary; RNA, Messenger; Substrate Specificity; Syndrome; Temperature; Zinc Fingers

2005
Solution structure of the K50 class homeodomain PITX2 bound to DNA and implications for mutations that cause Rieger syndrome.
    Biochemistry, 2005, May-24, Volume: 44, Issue:20

    Topics: Abnormalities, Multiple; Amino Acid Sequence; Amino Acid Substitution; Crystallography, X-Ray; DNA-Binding Proteins; Homeobox Protein PITX2; Homeodomain Proteins; Humans; Hydrophobic and Hydrophilic Interactions; Lysine; Models, Molecular; Molecular Sequence Data; Mutation; Nuclear Magnetic Resonance, Biomolecular; Protein Structure, Tertiary; Solutions; Syndrome; Transcription Factors

2005
Genetic analysis of Shwachman-Diamond syndrome: phenotypic heterogeneity in patients carrying identical SBDS mutations.
    The Tohoku journal of experimental medicine, 2005, Volume: 206, Issue:3

    Topics: Base Sequence; Bone and Bones; Bone Marrow Diseases; Child; Child, Preschool; Chromosomes; DNA; DNA Mutational Analysis; DNA Primers; Exocrine Pancreatic Insufficiency; Exons; Female; Frameshift Mutation; Gene Deletion; Genetic Variation; Heterozygote; Humans; Infant; Infant, Newborn; Introns; Japan; Karyotyping; Lysine; Male; Molecular Sequence Data; Mutation; Oligonucleotides; Osteochondrodysplasias; Phenotype; Polymerase Chain Reaction; Proteins; RNA, Messenger; Syndrome

2005
Mutation analysis in Costello syndrome: functional and structural characterization of the HRAS p.Lys117Arg mutation.
    Human mutation, 2008, Volume: 29, Issue:2

    Topics: Abnormalities, Multiple; Arginine; Base Sequence; Cell Line; Cell Proliferation; Child; Child, Preschool; Codon; DNA Mutational Analysis; Guanosine Diphosphate; Humans; Hydrolysis; Infant; Infant, Newborn; Lysine; Molecular Sequence Data; Mutant Proteins; Mutation; Proto-Oncogene Proteins p21(ras); Syndrome

2008
Induction of immunologic tolerance to the trimellitate haptenic group in mice: model for a therapeutic approach to trimellitic anhydride-induced hypersensitivity syndromes in humans?
    The Journal of allergy and clinical immunology, 1980, Volume: 66, Issue:4

    Topics: Animals; Antibody Formation; Disease Models, Animal; Drug Hypersensitivity; Glutamates; Haptens; Hemocyanins; Immune Tolerance; Immunoglobulin E; Lysine; Mice; Mice, Inbred BALB C; Phthalic Anhydrides; Rats; Syndrome

1980
Possible syndrome of high myopia with retinal degeneration, cataract, manic depression, and elevated plasma amino acids.
    Metabolic and pediatric ophthalmology, 1980, Volume: 4, Issue:3

    Topics: Aged; Amino Acids; Bipolar Disorder; Cataract; Female; Humans; Lysine; Male; Middle Aged; Myopia; Ornithine; Ornithine-Oxo-Acid Transaminase; Retinal Degeneration; Serine; Syndrome

1980
Biochemical studies in the cerebro-hepato-renal syndrome of Zellweger: a disturbance in the metabolism of pipecolic acid.
    Journal of inherited metabolic disease, 1980, Volume: 2, Issue:2

    Topics: Amino Acids; Brain Diseases; Humans; Infant; Kidney Diseases; Liver Diseases; Lysine; Male; Metabolism, Inborn Errors; Pipecolic Acids; Syndrome

1980
[Inhalation provocation test with lysine-acetylsalicylic acid in patients with analgetics-induced asthma (author's transl)].
    Praxis und Klinik der Pneumologie, 1982, Volume: 36, Issue:1

    Topics: Adolescent; Adult; Analgesics; Aspirin; Asthma; Bronchial Provocation Tests; Female; Humans; Lysine; Male; Middle Aged; Syndrome

1982
Hyperpipecolic acidemia. Occurrence in an infant with clinical findings of the cerebrohepatorenal (Zellweger) syndrome.
    Archives of neurology, 1982, Volume: 39, Issue:11

    Topics: 2-Aminoadipic Acid; Abnormalities, Multiple; Bone and Bones; Bone Diseases; Facial Asymmetry; Female; Humans; Hypoprothrombinemias; Infant; Jaundice; Kidney Diseases; Kidney Diseases, Cystic; Liver Diseases; Lysine; Muscle Hypotonia; Pipecolic Acids; Skull; Syndrome

1982
Three new mutations of thyroid hormone receptor-beta associated with resistance to thyroid hormone.
    The Journal of clinical endocrinology and metabolism, 1994, Volume: 79, Issue:1

    Topics: Adolescent; Adult; Amino Acid Sequence; Asparagine; Aspartic Acid; Base Sequence; Drug Resistance; Female; Glutamates; Glutamic Acid; Glutamine; Humans; Lysine; Male; Molecular Sequence Data; Point Mutation; Receptors, Thyroid Hormone; Sicily; Syndrome; Thyroid Hormones

1994
The gene encoding a cationic amino acid transporter (SLC7A4) maps to the region deleted in the velocardiofacial syndrome.
    Genomics, 1998, Apr-15, Volume: 49, Issue:2

    Topics: Abnormalities, Multiple; Adult; Amino Acid Metabolism, Inborn Errors; Amino Acid Sequence; Amino Acid Transport Systems, Basic; Animals; Blotting, Northern; Carrier Proteins; Chromosome Deletion; Chromosome Mapping; Chromosomes, Artificial, Yeast; Chromosomes, Human, Pair 22; DiGeorge Syndrome; Dinucleotide Repeats; Female; Humans; Lysine; Membrane Proteins; Molecular Sequence Data; Oocytes; Sequence Analysis, DNA; Syndrome; Tetralogy of Fallot; Velopharyngeal Insufficiency; Xenopus

1998
Unilateral trigeminal and facial nerve palsies associated with epidural analgesia in labour.
    Canadian journal of anaesthesia = Journal canadien d'anesthesie, 1998, Volume: 45, Issue:9

    Topics: Adult; Analgesia, Epidural; Analgesia, Obstetrical; Anesthetics, Local; Anti-Inflammatory Agents, Non-Steroidal; Aspirin; Bupivacaine; Caffeine; Central Nervous System Stimulants; Cranial Nerve Diseases; Facial Paralysis; Female; Fluid Therapy; Headache; Humans; Infant, Newborn; Intracranial Hypotension; Lysine; Methadone; Narcotics; Obstetric Labor, Premature; Opioid-Related Disorders; Palliative Care; Paralysis; Pregnancy; Spinal Puncture; Syndrome; Trigeminal Nerve

1998
Incidence of the endothelin receptor B mutation that causes lethal white foal syndrome in white-patterned horses.
    American journal of veterinary research, 2001, Volume: 62, Issue:1

    Topics: Amino Acid Substitution; Animals; Female; Fetal Death; Genes, Lethal; Genetic Carrier Screening; Hair Color; Homozygote; Horse Diseases; Horses; Isoleucine; Lysine; Mutation; Pregnancy; Receptor, Endothelin B; Receptors, Endothelin; Syndrome

2001
[Post-cardiac aggression syndrome: a case report].
    Revue de pneumologie clinique, 2000, Volume: 56, Issue:6

    Topics: Adult; Anti-Inflammatory Agents, Non-Steroidal; Aspirin; Diagnosis, Differential; Female; Follow-Up Studies; Humans; Lysine; Pacemaker, Artificial; Pleural Effusion; Pleurisy; Syndrome; Time Factors

2000
Immediate endocrine and metabolic consequences of traumatic quadriplegia in a young woman.
    Paraplegia, 1977, Volume: 15, Issue:3

    Topics: 17-Hydroxycorticosteroids; Adolescent; Bone and Bones; Calcium; Collagen; Cyclic AMP; Female; Humans; Hydrocortisone; Hydroxyproline; Lysine; Parathyroid Hormone; Phosphorus; Quadriplegia; Renin; Syndrome; Water-Electrolyte Imbalance

1977
Chronic inhibition of brain protein synthesis after portacaval shunting. A possible pathogenic mechanism in chronic hepatic encephalopathy in the rat.
    Neurology, 1978, Volume: 28, Issue:3

    Topics: Ammonia; Animals; Brain; Electroencephalography; Hepatic Encephalopathy; Lysine; Muscles; Nerve Tissue Proteins; Portacaval Shunt, Surgical; Rats; Syndrome

1978
[lysine malabsorption syndrome].
    Nihon rinsho. Japanese journal of clinical medicine, 1977,Spring, Volume: 35 Suppl 1

    Topics: Female; Humans; Infant; Intellectual Disability; Intestinal Absorption; Lysine; Syndrome

1977
Congenital hyperammonemic syndromes.
    Clinics in perinatology, 1976, Volume: 3, Issue:1

    Topics: Amino Acid Metabolism, Inborn Errors; Ammonia; Argininosuccinate Synthase; Argininosuccinic Aciduria; Carbamoyl-Phosphate Synthase (Ammonia); Citrulline; Diagnosis, Differential; Humans; Hyperargininemia; Infant, Newborn; Infant, Newborn, Diseases; Lysine; Ornithine; Ornithine Carbamoyltransferase Deficiency Disease; Syndrome; Urea

1976
Rapid detection of the A----G(8344) mutation of mtDNA in Italian families with myoclonus epilepsy and ragged-red fibers (MERRF).
    American journal of human genetics, 1991, Volume: 48, Issue:2

    Topics: Base Sequence; DNA, Mitochondrial; Epilepsies, Myoclonic; Humans; Lysine; Mitochondria, Muscle; Molecular Sequence Data; Muscles; Mutation; Pedigree; Polymerase Chain Reaction; RNA, Transfer, Lys; Syndrome

1991
Comparison of ornithine metabolism in hyperornithinaemia-hyperammonaemia-homocitrullinuria syndrome, lysinuric protein intolerance and gyrate atrophy fibroblasts.
    Journal of inherited metabolic disease, 1989, Volume: 12, Issue:1

    Topics: Amino Acid Metabolism, Inborn Errors; Ammonia; Citrulline; Fibroblasts; Heterozygote; Homozygote; Humans; Lysine; Ornithine; Ornithine-Oxo-Acid Transaminase; Oxidation-Reduction; Proteins; Syndrome

1989
The significance of hyperpipecolatemia in Zellweger syndrome.
    American journal of human genetics, 1986, Volume: 38, Issue:5

    Topics: Abnormalities, Multiple; Amino Acid Metabolism, Inborn Errors; Brain Diseases; Humans; Infant; Infant, Newborn; Kidney Diseases; Liver Diseases; Lysine; Pipecolic Acids; Syndrome

1986
Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome: low creatine excretion and effect of citrulline, arginine, or ornithine supplement.
    Pediatric research, 1987, Volume: 22, Issue:3

    Topics: Amino Acid Metabolism, Inborn Errors; Ammonia; Arginine; Child, Preschool; Citrulline; Creatine; Female; Humans; Lysine; Male; Ornithine; Orotic Acid; Syndrome

1987
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
Involvement of biotin in the fatty liver and kidney syndrome of broilers.
    British poultry science, 1974, Volume: 15, Issue:5

    Topics: Animal Feed; Animals; Biotin; Diet; Fatty Liver; Housing, Animal; Kidney Diseases; Lysine; Methionine; Poultry Diseases; Syndrome; Triticum; Tryptophan; Vitamins

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
Lowe's syndrome. Absence of amino acid transport defect in cultured fibroblasts.
    Acta paediatrica Scandinavica, 1973, Volume: 62, Issue:6

    Topics: Ammonia; Biological Transport; Carbon Radioisotopes; Culture Techniques; Eye Diseases; Fibroblasts; Glycine; Growth Disorders; Humans; Intellectual Disability; Intestinal Absorption; Kidney Diseases; Lysine; Renal Aminoacidurias; Syndrome

1973
Hyperlysinuria with hyperammonemia. A new metabolic disorder.
    American journal of diseases of children (1960), 1972, Volume: 124, Issue:1

    Topics: Adolescent; Amino Acid Metabolism, Inborn Errors; Ammonia; Arginine; Diet Therapy; Growth Disorders; Humans; Intellectual Disability; Intestinal Absorption; Kidney Concentrating Ability; Lysine; Male; Protein Biosynthesis; Syndrome; Urea

1972