lysine has been researched along with Abnormalities, Multiple in 15 studies
| Timeframe | Studies, this research(%) | All Research% |
|---|---|---|
| pre-1990 | 6 (40.00) | 18.7374 |
| 1990's | 1 (6.67) | 18.2507 |
| 2000's | 3 (20.00) | 29.6817 |
| 2010's | 2 (13.33) | 24.3611 |
| 2020's | 3 (20.00) | 2.80 |
| Authors | Studies |
|---|---|
| Ancona, S; Bernardelli, C; Borghi, E; Castiglioni, S; Colombo, EA; Di Fede, E; Gervasini, C; Ghelma, F; Grazioli, P; Lesma, E; Lettieri, A; Massa, V; Milani, D; Ottaviano, E; Parodi, C; Vignoli, A | 1 |
| Bodamer, O; Choi, J; Hung, C; Jung, YL; Lee, EA | 1 |
| de Vries, BBA; Devilee, L; Frega, M; Gabriele, M; Hommersom, M; Klein Gunnewiek, TM; Koolen, DA; Lewerissa, EI; Linda, K; Nadif Kasri, N; Oudakker, A; Schoenmaker, C; Schubert, D; Testa, G; Ulferts, E; van Bokhoven, H; Verboven, AHA | 1 |
| Ge, K; Magnuson, T; Shpargel, KB; Starmer, J; Wang, C | 1 |
| Aikawa, T; Amano, K; Fujimaki, T; Ishiguchi, M; Kimata, M; Kishi, N; Kogo, M; Murakami, A | 1 |
| Chaney, BA; Clark-Baldwin, K; Dave, V; Ma, J; Rance, M | 1 |
| Kutsche, K; Shaw, GM; Wimplinger, I | 1 |
| 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, A | 1 |
| Arneson, DW; Tipton, RE; Ward, JC | 1 |
| Andria, G; Borsani, G; Castaldo, P; Incerti, B; Rossi, E; Sebastio, G; Sperandeo, MP; Taglialatela, M; Zollo, M; Zuffardi, O | 1 |
| Beaudet, AL; Michels, VV | 1 |
| Dancis, J; Hutzler, J | 1 |
| Aronson, BE; Aronson, SM | 1 |
| Holmgren, G | 1 |
| Dayras, JC; Lejeune, J; See, G | 1 |
1 review(s) available for lysine and Abnormalities, Multiple
| Article | Year |
|---|---|
Topics: Abnormalities, Multiple; Animals; Epigenesis, Genetic; Humans; Intellectual Disability; Lysine; Phenotype | 2022 |
14 other study(ies) available for lysine and Abnormalities, Multiple
| Article | Year |
|---|---|
Characterizing the molecular impact of KMT2D variants on the epigenetic and transcriptional landscapes in Kabuki syndrome.
Topics: Abnormalities, Multiple; Epigenesis, Genetic; Hematologic Diseases; Humans; Leukocytes, Mononuclear; Lysine; Mutation; Myosin Type I; Vestibular Diseases | 2023 |
Imbalanced autophagy causes synaptic deficits in a human model for neurodevelopmental disorders.
Topics: Abnormalities, Multiple; Autophagosomes; Autophagy; Chromosome Deletion; Chromosomes, Human, Pair 17; Epigenesis, Genetic; Humans; Intellectual Disability; Lysine; Lysosomes; Reactive Oxygen Species; Sirolimus; Superoxide Dismutase-1; TOR Serine-Threonine Kinases | 2022 |
UTX-guided neural crest function underlies craniofacial features of Kabuki syndrome.
Topics: Abnormalities, Multiple; Animals; Cell Survival; Disease Models, Animal; Face; Female; Gene Expression Regulation, Developmental; HEK293 Cells; Hematologic Diseases; Histone Demethylases; Humans; Lysine; Male; Mice, Knockout; Mice, Transgenic; Mutation; Neural Crest; Nuclear Proteins; Skull; Vestibular Diseases | 2017 |
Cleft lip in oculodentodigital dysplasia suggests novel roles for connexin43.
Topics: Abnormalities, Multiple; Adenine; Animals; Bone Morphogenetic Protein 4; Child, Preschool; Cleft Lip; Connexin 43; Epithelium; Exons; Eye Abnormalities; Fingers; Galactosyltransferases; Glucosyltransferases; Glutamic Acid; Guanine; Heterozygote; Humans; Infant; Introns; Lip; Lysine; Male; Mice; Models, Animal; Polymorphism, Single Nucleotide; Tooth Abnormalities; Transcription Factor AP-2 | 2012 |
Solution structure of the K50 class homeodomain PITX2 bound to DNA and implications for mutations that cause Rieger syndrome.
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 |
HCCS loss-of-function missense mutation in a female with bilateral microphthalmia and sclerocornea: a novel gene for severe ocular malformations?
Topics: Abnormalities, Multiple; Adenine; Amino Acid Substitution; Animals; CHO Cells; Chromosomes, Human, X; Cohort Studies; Cornea; Cricetinae; Cricetulus; Eye Abnormalities; Female; Glutamic Acid; Guanine; Heterozygote; Humans; Lyases; Lysine; Microphthalmos; Mutation, Missense; Point Mutation; Saccharomyces cerevisiae; Severity of Illness Index; Transfection; X Chromosome Inactivation | 2007 |
Mutation analysis in Costello syndrome: functional and structural characterization of the HRAS p.Lys117Arg mutation.
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 |
Hyperpipecolic acidemia. Occurrence in an infant with clinical findings of the cerebrohepatorenal (Zellweger) syndrome.
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 |
The gene encoding a cationic amino acid transporter (SLC7A4) maps to the region deleted in the velocardiofacial syndrome.
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 |
Arginase deficiency in multiple tissues in argininemia.
Topics: Abnormalities, Multiple; Amino Acid Metabolism, Inborn Errors; Amino Acids; Ammonia; Arginase; Arginine; Blood Transfusion; Child; Erythrocytes; Female; Humans; Hyperargininemia; Lysine | 1978 |
The significance of hyperpipecolatemia in Zellweger syndrome.
Topics: Abnormalities, Multiple; Amino Acid Metabolism, Inborn Errors; Brain Diseases; Humans; Infant; Infant, Newborn; Kidney Diseases; Liver Diseases; Lysine; Pipecolic Acids; Syndrome | 1986 |
Clinical neuropathological conference.
Topics: Abnormalities, Multiple; Adult; Anuria; Arrhythmias, Cardiac; Biopsy; Blood Glucose; Esophageal Diseases; gamma-Globulins; Heart Conduction System; Humans; Hyperostosis Frontalis Interna; Hypothyroidism; Insulin; Insulin Secretion; Intellectual Disability; Intestinal Absorption; Lysine; Male; Malocclusion; Myotonic Dystrophy; Paranasal Sinuses; Pharyngeal Diseases; Pneumonia, Aspiration; Temporomandibular Joint; Testis; Xylose | 1969 |
Urinary metabolic screening of mentally retarded patients from institutions in the northern part of Sweden.
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 |
[Cystinuria-lysinuria with dwarfism, facial dysmorphy, muscle hypoplasia and psychomotor retardation].
Topics: Abnormalities, Multiple; Child, Preschool; Chromosome Aberrations; Chromosome Disorders; Consanguinity; Cystinuria; Dwarfism; Face; Female; Humans; Infant; Karyotyping; Lysine; Muscular Diseases; Pedigree; Psychomotor Disorders | 1970 |