tyrosine and Abnormalities, Multiple

tyrosine has been researched along with Abnormalities, Multiple in 14 studies

Research

Studies (14)

TimeframeStudies, this research(%)All Research%
pre-19902 (14.29)18.7374
1990's2 (14.29)18.2507
2000's7 (50.00)29.6817
2010's3 (21.43)24.3611
2020's0 (0.00)2.80

Authors

AuthorsStudies
Arberas, C; Armando, R; Ballerini, MG; Barros, ÁC; Bergadá, I; Braslavsky, D; Casali, B; Cassinelli, H; Castro, JF; Del Rey, G; Domené, H; Domené, S; Gutiérrez, M; Jasper, H; Keselman, AC; Landi, E; Lapunzina-Badía, P; Martin, A; Nevado Blanco, J; Pennisi, PA; Ramirez, L; Rey, RA; Ropelato, MG; Sanguineti, NM; Scaglia, PA1
Chtchetinin, J; Gifford, WD; Jabs, EW; Lai, A; Li, S; Paznekas, WA1
Dravis, C; Henkemeyer, M1
Dingerdissen, H; Karagiannis, K; Mazumder, R; Motwani, M; Simonyan, V1
Chen, PK; Chuang, WL; Hsiao, M; Hung, KS; Lai, BJ; Shih, TY; Wang, TJ1
Hawkins, EP; Liu, LL; Scaglia, F; Vladutiu, GD; Vogel, H; Wong, LJ1
Fukuda, T; Ichihara, M; Jijiwa, M; Kawai, K; Kurokawa, K; Murakumo, Y; Nakamura, A; Takahashi, M1
Bae, DS; Bae, YS; Jang, MK; Jin, DK; Longo, N; Park, HS; Park, JW; Shin, SM1
Rabinowitz, JG1
Roifman, CM1
Imhof, BA; Madri, JA; Mahooti, S; Pinter, E; Wang, Y1
Aiuti, F; Dallapiccola, B; Digilio, MC; Giannotti, A; Giovannetti, A; Marino, B; Marziali, M; Novelli, G; Oliva, A; Pandolfi, F; Pierdominici, M; Rosso, R1
Anderson, N; Clayton, PE; Freeth, JS; Huynh, T; Kloth, MT; Laughlin, KK; Silva, CM; Whatmore, AJ; Woodall, AJ1
Gwinn, JL; Lee, FA1

Other Studies

14 other study(ies) available for tyrosine and Abnormalities, Multiple

ArticleYear
A homozygous mutation in the highly conserved Tyr60 of the mature IGF1 peptide broadens the spectrum of IGF1 deficiency.
    European journal of endocrinology, 2019, Volume: 181, Issue:5

    Topics: Abnormalities, Multiple; Cell Proliferation; Computational Biology; Computer Simulation; Fetal Growth Retardation; Growth Disorders; Hearing Loss, Sensorineural; HEK293 Cells; Homozygote; Humans; Infant; Insulin-Like Growth Factor I; Male; Mutation, Missense; Pedigree; Polymorphism, Single Nucleotide; Receptor, IGF Type 1; Receptors, Somatomedin; Tyrosine

2019
Tyrosine-dependent basolateral targeting of human connexin43-eYFP in Madin-Darby canine kidney cells can be disrupted by the oculodentodigital dysplasia mutation L90V.
    The FEBS journal, 2009, Volume: 276, Issue:23

    Topics: Abnormalities, Multiple; Amino Acid Sequence; Animals; Bacterial Proteins; Cell Line; Cell Membrane; Connexin 43; Dogs; Epithelial Cells; Gap Junctions; Humans; Luminescent Proteins; Microscopy, Fluorescence; Molecular Sequence Data; Mutation; Protein Transport; Tyrosine

2009
Ephrin-B reverse signaling controls septation events at the embryonic midline through separate tyrosine phosphorylation-independent signaling avenues.
    Developmental biology, 2011, Jul-01, Volume: 355, Issue:1

    Topics: Abnormalities, Multiple; Animals; Claudins; Cytoskeleton; Disease Models, Animal; Ephrin-B2; Ephrin-B3; Esophagus; Female; Larynx; Male; Mice; Morphogenesis; Palate; PDZ Domains; Phosphorylation; Protein Binding; Receptors, Eph Family; Signal Transduction; Trachea; Tyrosine

2011
Proteome-wide analysis of nonsynonymous single-nucleotide variations in active sites of human proteins.
    The FEBS journal, 2013, Volume: 280, Issue:6

    Topics: Abnormalities, Multiple; Amino Acid Substitution; Arginine; Aspartic Acid; Carbohydrate Metabolism; Catalytic Domain; Cluster Analysis; Enzyme Activation; Genetic Variation; Genome, Human; Glycogen Storage Disease; Hearing Loss; Histidine; Humans; Lacrimal Apparatus Diseases; Metabolomics; Molecular Sequence Annotation; Phenylalanine; Polymorphism, Single Nucleotide; Proteome; Proteomics; Structure-Activity Relationship; Syndactyly; Tooth Abnormalities; Tyrosine

2013
Beare-Stevenson cutis gyrata syndrome with Chiari malformation.
    Acta neurochirurgica, 2002, Volume: 144, Issue:7

    Topics: Abnormalities, Multiple; Adult; Amino Acid Substitution; Arnold-Chiari Malformation; Craniosynostoses; Cystine; Female; Humans; Hydrocephalus; Infant; Infant, Newborn; Magnetic Resonance Imaging; Male; Postoperative Complications; Pregnancy; Receptor Protein-Tyrosine Kinases; Receptor, Fibroblast Growth Factor, Type 2; Receptors, Fibroblast Growth Factor; Reoperation; Syndrome; Tomography, X-Ray Computed; Tyrosine; Ultrasonography, Prenatal

2002
Novel homoplasmic mutation in the mitochondrial tRNATyr gene associated with atypical mitochondrial cytopathy presenting with focal segmental glomerulosclerosis.
    American journal of medical genetics. Part A, 2003, Dec-01, Volume: 123A, Issue:2

    Topics: Abnormalities, Multiple; Base Sequence; Biopsy; Child; Child, Preschool; Chromatography, High Pressure Liquid; Coenzymes; DNA, Mitochondrial; Female; Glomerulosclerosis, Focal Segmental; Humans; Immunohistochemistry; Kidney; Microscopy, Electron; Mitochondrial Diseases; Molecular Sequence Data; Muscle, Skeletal; Mutation; RNA, Transfer; Sequence Alignment; Sequence Analysis, DNA; Tyrosine; Ubiquinone

2003
A targeting mutation of tyrosine 1062 in Ret causes a marked decrease of enteric neurons and renal hypoplasia.
    Molecular and cellular biology, 2004, Volume: 24, Issue:18

    Topics: Abnormalities, Multiple; Animals; Base Sequence; DNA; Enteric Nervous System; Kidney; Mice; Mice, Mutant Strains; Mice, Transgenic; Mutagenesis, Site-Directed; Phenotype; Proto-Oncogene Proteins; Proto-Oncogene Proteins c-ret; Receptor Protein-Tyrosine Kinases; RNA, Messenger; Tyrosine

2004
Impaired generation of reactive oxygen species in leprechaunism through downregulation of Nox4.
    Diabetes, 2005, Volume: 54, Issue:11

    Topics: Abnormalities, Multiple; Cells, Cultured; Down-Regulation; Epidermal Growth Factor; Fibroblasts; Gene Expression Regulation, Enzymologic; Humans; Insulin Resistance; NADPH Oxidase 4; NADPH Oxidases; Phenotype; Phosphorylation; Platelet-Derived Growth Factor; Reactive Oxygen Species; Tyrosine

2005
Abnormalities of the liver and other organs.
    Radiologic clinics of North America, 1980, Volume: 18, Issue:2

    Topics: Abnormalities, Multiple; alpha 1-Antitrypsin Deficiency; Amino Acid Metabolism, Inborn Errors; Colitis; Colon; Cystinosis; Heart Failure; Hemochromatosis; Hepatolenticular Degeneration; Humans; Liver; Liver Diseases; Necrosis; Radiography; Sclerosis; Tyrosine

1980
Antibody deficiency, growth retardation, spondyloepiphyseal dysplasia and retinal dystrophy: a novel syndrome.
    Clinical genetics, 1999, Volume: 55, Issue:2

    Topics: Abnormalities, Multiple; Adult; Child; Child, Preschool; Fetal Growth Retardation; Humans; Immunologic Deficiency Syndromes; Male; Musculoskeletal Abnormalities; Phosphorylation; Receptors, Antigen, B-Cell; Retina; Syndrome; Tyrosine

1999
Hyperglycemia-induced vasculopathy in the murine vitelline vasculature: correlation with PECAM-1/CD31 tyrosine phosphorylation state.
    The American journal of pathology, 1999, Volume: 154, Issue:5

    Topics: Abnormalities, Multiple; Animals; Culture Techniques; Diabetic Angiopathies; Embryonic and Fetal Development; Female; Glucose; Hyperglycemia; Mice; Phosphorylation; Platelet Endothelial Cell Adhesion Molecule-1; Pregnancy; Pregnancy in Diabetics; Tyrosine; Vitelline Membrane

1999
T cell receptor repertoire and function in patients with DiGeorge syndrome and velocardiofacial syndrome.
    Clinical and experimental immunology, 2000, Volume: 121, Issue:1

    Topics: Abnormalities, Multiple; Apoptosis; CD3 Complex; Cell Division; DiGeorge Syndrome; Immunophenotyping; Mitogens; Oncostatin M; Peptides; Phosphorylation; Phytohemagglutinins; Receptors, Antigen, T-Cell, alpha-beta; Syndrome; T-Lymphocytes; Tyrosine

2000
GH and epidermal growth factor signaling in normal and Laron syndrome fibroblasts.
    Endocrinology, 2002, Volume: 143, Issue:7

    Topics: Abnormalities, Multiple; Androstadienes; Blotting, Western; Child; Epidermal Growth Factor; Female; Fibroblasts; Growth Hormone; Humans; Indicators and Reagents; Janus Kinase 2; Luciferases; Mitogen-Activated Protein Kinases; Phosphorylation; Precipitin Tests; Protein-Tyrosine Kinases; Proto-Oncogene Proteins; Receptors, Somatotropin; Signal Transduction; Syndrome; Transfection; Tyrosine; Wortmannin

2002
[Four uncommon pediatric conditions associated with bilateral nephromegaly].
    Annales de radiologie, 1969, Volume: 12, Issue:3

    Topics: Abnormalities, Multiple; Glycogen Storage Disease Type I; Humans; Hyperplasia; Infant; Infant, Newborn; Kidney Diseases; Lipodystrophy; Male; Tyrosine

1969