phenylalanine has been researched along with Genetic Predisposition in 32 studies
Timeframe | Studies, this research(%) | All Research% |
---|---|---|
pre-1990 | 0 (0.00) | 18.7374 |
1990's | 0 (0.00) | 18.2507 |
2000's | 13 (40.63) | 29.6817 |
2010's | 16 (50.00) | 24.3611 |
2020's | 3 (9.38) | 2.80 |
Authors | Studies |
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Li, Z; Michel, F; Patin, E; Pellegrini, S; Rotival, M | 1 |
Baronio, F; Bettocchi, I; Brodosi, L; Caletti, MT; Cassio, A; Cataldi, S; Marchesini, G; Petroni, ML | 1 |
Anikster, Y; Belanger-Quintana, A; Blau, N; Bonfim-Freitas, PE; Burlina, A; Burton, BK; Carducci, C; Chiesa, AE; Christodoulou, J; Desviat, LR; Eliyahu, A; Evers, RAF; Fajkusova, L; Feillet, F; Garbade, SF; Giżewska, M; Gundorova, P; Hillert, A; Hoffmann, GF; Karall, D; Kneller, K; Kutsev, SI; Leuzzi, V; Levy, HL; Lichter-Konecki, U; Muntau, AC; Namour, F; Oltarzewski, M; Paras, A; Perez, B; Polak, E; Polyakov, AV; Porta, F; Rohrbach, M; Santana-da Silva, LC; Scholl-Bürgi, S; Shen, N; Skouma, A; Spécola, N; Stojiljković, M; Stoppioni, V; Thöny, B; Trefz, FK; van Spronsen, F; Vockley, J; Yu, Y; Zschocke, J; Đorđević, M | 1 |
Fu, Q; Gao, H; Jiang, M; Lin, W; Lin, Y; Lu, B; Zheng, T; Zhou, S; Zhu, L | 1 |
Frölich, L; Hartmann, T; Hausner, L; Hentschel, F; Schmitt, HP; Tschäpe, JA | 1 |
Barbon, G; Casonato, A; Cattini, GM; Daidone, V; Gallinaro, L; Pizzo, P; Pontara, E; Zampese, E | 1 |
Antozzi, C; Brancati, F; D Apice, MR; Federici, L; Maggi, L; Marshall, CR; Massa, R; Minassian, BA; Mora, M; Morandi, L; Novelli, G; Pasanisi, MB; Ruggieri, A; Sangiuolo, F; Saredi, S; Scherer, SW; Terracciano, C; Zanotti, S | 1 |
Ambler, K; Casolari, DA; D'Andrea, RJ; Nguyen, T; Ross, DM; Tiong, IS; Van Velzen, MJ | 1 |
Gholami, L; Hajilooi, M; Houshmand, B; Mani-Kashani, K; Rafiei, A | 1 |
Girodon, F; Gisslinger, H; Hao-Shen, H; Hermouet, S; Jäger, R; Kralovics, R; Looser, R; Schaub, FX; Skoda, RC; Tichelli, A | 1 |
Bassi, S; Bergamini, F; Corradi, A; Iori, A; Migliore, S; Pongolini, S | 1 |
Ammatuna, E; Antonioli, E; Barbui, T; Barosi, G; Bosi, A; Delaini, F; Guglielmelli, P; Liso, V; Lo Coco, F; Longo, G; Pancrazzi, A; Pieri, L; Ponziani, V; Rambaldi, A; Specchia, G; Vannucchi, AM | 1 |
Benjamin, C; Berkovic, SF; Fedi, M; Reutens, DC; Saling, MM; Scheffer, IE; Wood, AG | 1 |
Chang, PY; Hsia, KT; Huang, SH; Lin, MW; Liu, CJ | 1 |
Becerra, C; Cabello, JF; Colombo, M; Cornejo, V; Opazo, M; Raimann, E; Valiente, A | 1 |
Hsiao, HH; Hsu, JF; Lee, CP; Lin, SF; Liu, YC; Tsai, HJ | 1 |
Cao, A; Carta, D; Coiana, A; Faa', V; Puddu, R; Rosatelli, MC | 1 |
Archacki, S; Cui, X; Du, R; Liu, J; Liu, M; Liu, Y; Tang, Z; Wang, QK; Zeng, F; Zhan, T; Zhang, J | 1 |
Barosi, G; Bergamaschi, G; Carolei, A; Catarsi, P; Poletto, V; Primignani, M; Rosti, V; Spolverini, A; Vannucchi, AM; Villani, L | 1 |
Dabelic, S; Dumic, J; Goreta, SS; Lauc, G; Pavlinic, D | 1 |
Hans, VM; Mehta, DS | 1 |
Biasin, M; Cagliani, R; Caruz, A; Clerici, M; De Luca, M; Forni, D; Lo Caputo, S; Macías, J; Mazzotta, F; Pineda, JA; Saulle, I; Sironi, M | 1 |
Chevessier, F; Girard, E; Krejci, E; McArdle, JJ; Mersdorf, U; Peter, C; Witzemann, V | 1 |
Beeson, D; Brydson, M; Chauplannaz, G; Colquhoun, D; Croxen, R; Hatton, C; Newsom-Davis, J; Oosterhuis, H; Shelley, C; Vincent, A | 1 |
Christodoulou, K; Georgiou, DM; Kleopa, KA; Koutsou, P; Kyriakides, T; Nicolaou, P; Papathanasiou, E | 1 |
Filosto, M; Galli, R; Mancuso, M; Murri, L; Pizzanelli, C; Siciliano, G | 1 |
Cao, Y; Chen, S; Chen, Y; Du, Z; Li, L; Lin, Z; Liu, B; Liu, Z; Wu, Y; Xu, A; Zhang, Y | 1 |
Rodacker, V; Toustrup-Jensen, M; Vilsen, B | 1 |
Amitrano, L; Brancaccio, V; Colaizzo, D; Grandone, E; Guardascione, MA; Margaglione, M; Scenna, G; Tiscia, GL | 1 |
Carney, PR; Dennis, DM; Laipis, PJ; Martynyuk, AE; Norman, WM; Ucar, DA; Yang, DD | 1 |
Gu, T; Li, Z; Zhao, G | 1 |
Brown, ML; Eastwood, AL; Kumar, R; Laurie, GW | 1 |
1 review(s) available for phenylalanine and Genetic Predisposition
Article | Year |
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Citrullinemia type I is associated with a novel splicing variant, c.773 + 4A > C, in ASS1: a case report and literature review.
Topics: Arginine; Argininosuccinate Synthase; Asian People; Base Sequence; China; Citrulline; Citrullinemia; Genetic Association Studies; Genetic Predisposition to Disease; Genotype; Homozygote; Humans; Infant, Newborn; Language Development Disorders; Male; Mutation; Pedigree; Phenotype; Phenylalanine; RNA Splicing | 2019 |
31 other study(ies) available for phenylalanine and Genetic Predisposition
Article | Year |
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Two common disease-associated TYK2 variants impact exon splicing and TYK2 dosage.
Topics: Alleles; Amino Acid Substitution; Autoimmune Diseases; B-Lymphocytes; Cytokines; Gene Expression Regulation; Genetic Association Studies; Genetic Predisposition to Disease; Genotype; Humans; Inflammation; Phenylalanine; Polymorphism, Single Nucleotide; Quantitative Trait Loci; TYK2 Kinase | 2020 |
Maternal PKU: Defining phenylalanine tolerance and its variation during pregnancy, according to genetic background.
Topics: Adult; Diet, Protein-Restricted; Female; Fetal Growth Retardation; Genetic Predisposition to Disease; Gestational Weight Gain; Heart Defects, Congenital; Humans; Live Birth; Phenotype; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonuria, Maternal; Pregnancy; Risk Factors; Solitary Kidney; Treatment Outcome; Young Adult | 2020 |
The Genetic Landscape and Epidemiology of Phenylketonuria.
Topics: Alleles; Biopterins; Europe; Gene Frequency; Genetic Association Studies; Genetic Predisposition to Disease; Genotype; Homozygote; Humans; Mutation; Phenotype; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias | 2020 |
Clinical characterization of a presenilin 1 mutation (F177S) in a family with very early-onset Alzheimer's disease in the third decade of life.
Topics: Adult; Age of Onset; Aged; Alzheimer Disease; Amyloid beta-Peptides; Brain; Brain Waves; Cognition Disorders; Electroencephalography; Family Health; Female; Genetic Predisposition to Disease; Humans; Male; Mental Status Schedule; Middle Aged; Mutation; Peptide Fragments; Phenylalanine; Positron-Emission Tomography; Presenilin-1; Radiography; Serine | 2014 |
Loss of cysteine 584 impairs the storage and release, but not the synthesis of von Willebrand factor.
Topics: Adult; Aged; Amino Acid Substitution; Culture Media, Conditioned; Cysteine; DNA Mutational Analysis; Endoplasmic Reticulum; Female; Genetic Predisposition to Disease; Golgi Apparatus; HEK293 Cells; Hemostasis; Humans; Male; Mutation, Missense; Phenotype; Phenylalanine; Protein Multimerization; Protein Transport; Transfection; von Willebrand Diseases; von Willebrand Factor; Weibel-Palade Bodies | 2014 |
Complete loss of the DNAJB6 G/F domain and novel missense mutations cause distal-onset DNAJB6 myopathy.
Topics: Adult; Aged; DNA Mutational Analysis; Family Health; Female; Genetic Predisposition to Disease; HSP40 Heat-Shock Proteins; HSP70 Heat-Shock Proteins; Humans; Italy; Male; Middle Aged; Models, Molecular; Molecular Chaperones; Muscular Diseases; Mutation, Missense; Nerve Tissue Proteins; Phenylalanine; Tomography Scanners, X-Ray Computed; Valine; Young Adult | 2015 |
Masked polycythaemia vera is genetically intermediate between JAK2V617F mutated essential thrombocythaemia and overt polycythaemia vera.
Topics: Adult; Aged; Aged, 80 and over; Amino Acid Substitution; Asymptomatic Diseases; Cohort Studies; Disease Progression; Female; Genetic Predisposition to Disease; Humans; Janus Kinase 2; Male; Middle Aged; Mutation, Missense; Phenylalanine; Polycythemia Vera; Polymorphism, Single Nucleotide; Prodromal Symptoms; Thrombocythemia, Essential; Valine | 2016 |
E-selectin and L-selectin polymorphisms in patients with periodontitis.
Topics: Adenine; Adolescent; Adult; Aggressive Periodontitis; Alleles; Arginine; Chronic Periodontitis; Cytosine; Dental Plaque; E-Selectin; Female; Genetic Predisposition to Disease; Gingival Hemorrhage; Humans; L-Selectin; Leucine; Male; Middle Aged; Periodontal Attachment Loss; Periodontal Pocket; Periodontitis; Phenylalanine; Polymorphism, Genetic; Serine; Socioeconomic Factors; Thymine; Young Adult | 2009 |
Clonal analysis of deletions on chromosome 20q and JAK2-V617F in MPD suggests that del20q acts independently and is not one of the predisposing mutations for JAK2-V617F.
Topics: Adult; Aged; Aged, 80 and over; Amino Acid Substitution; Chromosome Deletion; Chromosomes, Human, Pair 20; Clone Cells; Comparative Genomic Hybridization; DNA Mutational Analysis; Female; Genetic Predisposition to Disease; Humans; Janus Kinase 2; Male; Middle Aged; Mutation; Myeloproliferative Disorders; Phenylalanine; Valine | 2009 |
Prion protein genotypes of Italian sheep breeds with lysine-171 and phenylalanine-141 detection.
Topics: Alleles; Amino Acid Sequence; Amino Acid Substitution; Animals; Genetic Predisposition to Disease; Genotype; Italy; Lysine; Phenylalanine; Prions; Scrapie; Sheep | 2009 |
Identification of patients with poorer survival in primary myelofibrosis based on the burden of JAK2V617F mutated allele.
Topics: Adult; Aged; Aged, 80 and over; Alleles; Amino Acid Substitution; DNA Mutational Analysis; Female; Genetic Predisposition to Disease; Humans; Janus Kinase 2; Male; Middle Aged; Mutation, Missense; Phenylalanine; Primary Myelofibrosis; Prognosis; Survival Analysis; Valine; Young Adult | 2009 |
Neuropsychological function in patients with a single gene mutation associated with autosomal dominant nocturnal frontal lobe epilepsy.
Topics: Adult; Association Learning; Circadian Rhythm; Cognition Disorders; Epilepsy, Frontal Lobe; Female; Frontal Lobe; Gene Frequency; Genetic Predisposition to Disease; Genotype; Humans; Male; Middle Aged; Mutation; Neuropsychological Tests; Pedigree; Phenylalanine; Polysomnography; Receptors, Nicotinic; Serine; Young Adult | 2010 |
O6-methylguanine-DNA methyltransferase gene coding region polymorphisms and oral cancer risk.
Topics: Age Factors; Carcinoma, Squamous Cell; Case-Control Studies; Codon; Cytosine; Disease-Free Survival; Female; Gene Frequency; Genetic Predisposition to Disease; Genetic Variation; Genotype; Haplotypes; Humans; Leucine; Linkage Disequilibrium; Male; Middle Aged; Mouth Neoplasms; O(6)-Methylguanine-DNA Methyltransferase; Phenylalanine; Polymorphism, Genetic; Polymorphism, Single Nucleotide; Precancerous Conditions; Retrospective Studies; Risk Factors; Sequence Analysis, DNA; Survival Rate; Taiwan; Thymine | 2010 |
Past, present and future of newborn screening in Chile.
Topics: Biomarkers; Chile; Congenital Hypothyroidism; Dried Blood Spot Testing; Forecasting; Genetic Predisposition to Disease; History, 20th Century; History, 21st Century; Humans; Incidence; Infant, Newborn; Neonatal Screening; Phenotype; Phenylalanine; Phenylketonurias; Predictive Value of Tests; Prognosis; Program Development; Program Evaluation; Thyroid Hormones; Time Factors | 2010 |
JAK2V617F mutation is associated with special alleles in essential thrombocythemia.
Topics: Alleles; Amino Acid Substitution; DNA Mutational Analysis; Gene Frequency; Genetic Linkage; Genetic Predisposition to Disease; Genetic Testing; Humans; Janus Kinase 2; Leucine; Lysine; Mutation, Missense; Phenylalanine; Polymorphism, Single Nucleotide; Receptors, Thrombopoietin; Thrombocythemia, Essential; Tryptophan; Valine | 2011 |
Preconceptional identification of cystic fibrosis carriers in the Sardinian population: A pilot screening program.
Topics: Cystic Fibrosis; Cystic Fibrosis Transmembrane Conductance Regulator; Female; Gene Deletion; Gene Frequency; Genetic Carrier Screening; Genetic Predisposition to Disease; Genetic Testing; Homozygote; Humans; Isoleucine; Italy; Male; Mutation; Phenylalanine; Pilot Projects; Threonine | 2011 |
A novel SCN1A missense mutation causes generalized epilepsy with febrile seizures plus in a Chinese family.
Topics: Adolescent; Adult; Aged; Asian People; Child; Child, Preschool; DNA Mutational Analysis; Epilepsy, Generalized; Family Health; Female; Genetic Linkage; Genetic Predisposition to Disease; Humans; Leucine; Male; Middle Aged; Models, Molecular; Mutation, Missense; NAV1.1 Voltage-Gated Sodium Channel; Nerve Tissue Proteins; Phenylalanine; Seizures, Febrile; Sodium Channels | 2011 |
JAK2 46/1 haplotype predisposes to splanchnic vein thrombosis-associated BCR-ABL negative classic myeloproliferative neoplasms.
Topics: Bone Marrow Neoplasms; Case-Control Studies; Fusion Proteins, bcr-abl; Gene Frequency; Genetic Predisposition to Disease; Haplotypes; Humans; Janus Kinase 2; Mesenteric Vascular Occlusion; Mesenteric Veins; Mutation; Myeloproliferative Disorders; Phenylalanine; Polymorphism, Genetic; Polymorphism, Single Nucleotide; Splanchnic Circulation; Valine; Venous Thrombosis | 2012 |
Frequency Determination of α-1,3 Glucosyltransferase p.Y131H and p.F304S Polymorphisms in the Croatian Population Revealed Five Novel Single Nucleotide Polymorphisms in the hALG6 Gene.
Topics: Adult; Amino Acid Substitution; Base Sequence; Croatia; Female; Gene Frequency; Genetic Predisposition to Disease; Genetics, Population; Glucosyltransferases; Humans; Male; Membrane Proteins; Middle Aged; Phenylalanine; Polymorphism, Single Nucleotide; Serine; Tryptophan; Tyrosine; Young Adult | 2012 |
Genetic polymorphism of Fcγ-receptors IIa, IIIa and IIIb in South Indian patients with generalized aggressive periodontitis.
Topics: Adult; Aggressive Periodontitis; Amino Acid Substitution; Analysis of Variance; Arginine; Case-Control Studies; Chi-Square Distribution; Female; Gene Frequency; Genetic Predisposition to Disease; Genotype; GPI-Linked Proteins; Histidine; Humans; India; Isoantigens; Male; Mouth Mucosa; Odds Ratio; Periodontal Index; Phenylalanine; Polymerase Chain Reaction; Polymorphism, Single Nucleotide; Receptors, IgG; Risk Factors; Valine; White People; Young Adult | 2011 |
A common polymorphism in TLR3 confers natural resistance to HIV-1 infection.
Topics: Cells, Cultured; Cohort Studies; Genetic Predisposition to Disease; Genetic Variation; HIV Infections; HIV Seronegativity; Humans; Italy; Leucine; Male; Phenylalanine; Polymorphism, Genetic; Prospective Studies; Spain; Toll-Like Receptor 3 | 2012 |
A new mouse model for the slow-channel congenital myasthenic syndrome induced by the AChR εL221F mutation.
Topics: Acetylcholinesterase; Aminophenols; Animals; Biophysics; Diaphragm; Disease Models, Animal; Gene Expression Regulation; Genetic Predisposition to Disease; Hand Strength; Humans; In Vitro Techniques; Isoleucine; Mice; Mice, Transgenic; Microscopy, Electron, Transmission; Miniature Postsynaptic Potentials; Motor Endplate; Mutagenesis; Myasthenic Syndromes, Congenital; Neurofilament Proteins; Neuromuscular Junction; Patch-Clamp Techniques; Phenylalanine; Receptors, Nicotinic; S100 Proteins; Synaptophysin; Time Factors | 2012 |
Recessive inheritance and variable penetrance of slow-channel congenital myasthenic syndromes.
Topics: Adolescent; Adult; Amino Acid Sequence; Case-Control Studies; DNA Mutational Analysis; Electromyography; Genetic Predisposition to Disease; Humans; Leucine; Male; Middle Aged; Molecular Sequence Data; Mutation, Missense; Myasthenia Gravis; Phenylalanine; Polymerase Chain Reaction; Polymorphism, Single-Stranded Conformational; Proline; Receptors, Nicotinic | 2002 |
A novel PMP22 mutation Ser22Phe in a family with hereditary neuropathy with liability to pressure palsies and CMT1A phenotypes.
Topics: Adult; Charcot-Marie-Tooth Disease; Electrophysiology; Exons; Family Health; Female; Genetic Predisposition to Disease; Humans; Male; Mutation; Myelin Proteins; Neurons; Pedigree; Peripheral Nervous System Diseases; Phenotype; Phenylalanine; Point Mutation; Sequence Analysis, DNA; Serine | 2004 |
Antimyoclonic effect of levetiracetam in MERRF syndrome.
Topics: Activities of Daily Living; Anticonvulsants; Atrophy; Brain; Drug Therapy, Combination; Female; Genetic Predisposition to Disease; Humans; Levetiracetam; MERRF Syndrome; Middle Aged; Mitochondria; Muscle, Skeletal; Mutation; Myoclonus; Phenylalanine; Piracetam; Quality of Life; RNA, Transfer; Treatment Outcome; Ubiquinone; Valproic Acid | 2006 |
Polymorphic amino acids at codons 9 and 37 of HLA-DQB1 alleles may confer susceptibility to cervical cancer among Chinese women.
Topics: Amino Acid Sequence; Amino Acids; Aspartic Acid; Case-Control Studies; China; Codon; DNA, Viral; Female; Gene Frequency; Genetic Predisposition to Disease; HLA-DQ Antigens; HLA-DQ beta-Chains; Human papillomavirus 16; Humans; Isoleucine; Leucine; Papillomavirus Infections; Phenylalanine; Polymerase Chain Reaction; Polymorphism, Genetic; Polymorphism, Restriction Fragment Length; Sequence Analysis, DNA; Tyrosine; Uterine Cervical Neoplasms | 2006 |
Mutations Phe785Leu and Thr618Met in Na+,K+-ATPase, associated with familial rapid-onset dystonia parkinsonism, interfere with Na+ interaction by distinct mechanisms.
Topics: Animals; Chlorocebus aethiops; COS Cells; Dystonia; Genetic Predisposition to Disease; Humans; Models, Molecular; Mutation; Parkinsonian Disorders; Phenylalanine; Protein Conformation; Rats; Sodium; Sodium-Potassium-Exchanging ATPase; Threonine | 2006 |
The JAK2 V617F mutation frequently occurs in patients with portal and mesenteric venous thrombosis.
Topics: Adolescent; Adult; Aged; Aged, 80 and over; Child; Cohort Studies; Female; Follow-Up Studies; Gene Frequency; Genetic Predisposition to Disease; Humans; Italy; Janus Kinase 2; Male; Mesenteric Vascular Occlusion; Mesenteric Veins; Middle Aged; Mutation; Myeloproliferative Disorders; Odds Ratio; Phenylalanine; Portal Vein; Risk Factors; Time Factors; Valine; Venous Thrombosis; Von Hippel-Lindau Tumor Suppressor Protein | 2007 |
Epilepsy in phenylketonuria: a complex dependence on serum phenylalanine levels.
Topics: Acoustic Stimulation; Age Factors; Animals; Circadian Rhythm; Disease Models, Animal; Epilepsy; Epilepsy, Reflex; Female; Food, Formulated; Genetic Predisposition to Disease; Mice; Mice, Mutant Strains; Phenylalanine; Phenylketonurias | 2007 |
Inherited disturbances of phenylalanine metabolic kinetics in essential hypertension.
Topics: Adult; Animals; Female; Genetic Predisposition to Disease; Humans; Hypertension; Male; Phenylalanine; Rats; Rats, Inbred SHR; Rats, Inbred WKY | 2001 |
Human genome search in celiac disease: mutated gliadin T-cell-like epitope in two human proteins promotes T-cell activation.
Topics: Amino Acid Sequence; Celiac Disease; Computational Biology; Databases as Topic; Epitopes, T-Lymphocyte; Genetic Predisposition to Disease; Genome, Human; Gliadin; Glutamic Acid; HLA-DQ Antigens; Humans; Lymphocyte Activation; Models, Molecular; Molecular Sequence Data; Mutation; Peptide Fragments; Phenylalanine; Protein Conformation; Sequence Homology; T-Lymphocytes; Transcription Factor TFIIA; Transcription Factors | 2002 |