Page last updated: 2024-08-17

lysine and Child Development Deviations

lysine has been researched along with Child Development Deviations in 8 studies

Research

Studies (8)

TimeframeStudies, this research(%)All Research%
pre-19900 (0.00)18.7374
1990's2 (25.00)18.2507
2000's1 (12.50)29.6817
2010's3 (37.50)24.3611
2020's2 (25.00)2.80

Authors

AuthorsStudies
Afenjar, A; Banka, S; Barish, S; Bellen, HJ; Blyth, M; Choufani, S; Costain, G; Cytrynbaum, C; Deshwar, AR; Haldeman-Englert, C; Hayes, I; Haynes, D; Huang, Y; Jobling, R; Kanca, O; Keren, B; Le Quesne Stabej, P; Mao, X; Mignot, C; Nil, Z; Prescott, T; Robin-Renaldo, F; Shinawi, M; Sisco, K; Tveten, K; Vøllo, A; Wangler, MF; Wegner, DJ; Weksberg, R; Wheeler, PG; Wilson, C; Yamamoto, S; Yap, P; Zhang, X; Zon, J1
Amiel, J; Banka, S; Crilly, S; Cross, LA; Cuvertino, S; Davies, SJ; Douglas, AGL; Faundes, V; Fry, AE; Gordon, CT; Granadillo, JL; Harrison, V; Jennings, MD; Kasher, PR; Legraie, S; Lehalle, D; Newkirk, P; Newman, WG; Pavitt, GD; Ranells, J; Saunders, CJ; Splitt, M; Sullivan, BR; Withers, SE1
Au, PB; Chung, WK; Deng, L; Devinsky, O; Ganapathi, M; Hanner, A; Karlowicz, D; LeDuc, CA; Lee, J; Mastracci, TL; McDonald, M; Mirmira, RG; Okur, V; Padgett, LR; Park, MH; Person, R; Shen, Y; Tagoe, J; Wang, J; Willaert, R; Wolf, B; Yamada, K1
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
Buckley, MF; Elakis, G; Gardener, G; Inglis, G; Roscioli, T; Susman, RD; Zankl, A1
Emons, D; Haverkamp, F; Kreft, B; Woelfle, J1
Bamshad, MJ; Bellus, GA; Curry, CJ; Dorst, J; Francomano, CA; Hurko, O; Jabs, EW; Lachman, RS; Lee, RR; Przylepa, KA; Rimoin, DL; Wilcox, WR1

Other Studies

8 other study(ies) available for lysine and Child Development Deviations

ArticleYear
Rare de novo gain-of-function missense variants in DOT1L are associated with developmental delay and congenital anomalies.
    American journal of human genetics, 2023, 11-02, Volume: 110, Issue:11

    Topics: Congenital Abnormalities; Developmental Disabilities; Drosophila; Drosophila Proteins; Gain of Function Mutation; Histone-Lysine N-Methyltransferase; Histones; Humans; Lysine; Methylation; Methyltransferases; Neoplasms

2023
Impaired eIF5A function causes a Mendelian disorder that is partially rescued in model systems by spermidine.
    Nature communications, 2021, 02-05, Volume: 12, Issue:1

    Topics: Adolescent; Amino Acid Sequence; Animals; Child; Developmental Disabilities; Embryo, Nonmammalian; Eukaryotic Translation Initiation Factor 5A; Female; Gene Expression Regulation, Developmental; Humans; Lysine; Male; Microcephaly; Micrognathism; Peptide Initiation Factors; Peptides; Protein Biosynthesis; Protein Conformation; Protein Isoforms; Ribosomes; RNA-Binding Proteins; Saccharomyces cerevisiae; Saccharomyces cerevisiae Proteins; Sequence Alignment; Sequence Homology, Amino Acid; Spermidine; Zebrafish; Zebrafish Proteins

2021
Recessive Rare Variants in Deoxyhypusine Synthase, an Enzyme Involved in the Synthesis of Hypusine, Are Associated with a Neurodevelopmental Disorder.
    American journal of human genetics, 2019, 02-07, Volume: 104, Issue:2

    Topics: Alleles; Amino Acid Sequence; Child; Child, Preschool; Developmental Disabilities; Eukaryotic Translation Initiation Factor 5A; Female; Genes, Recessive; Haplotypes; Humans; Lysine; Male; Metabolism, Inborn Errors; Mutation; Neurodevelopmental Disorders; Oxidoreductases Acting on CH-NH Group Donors; Pedigree; Peptide Initiation Factors; RNA-Binding Proteins; Seizures; Young Adult

2019
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
Prenatal and postnatal presentation of severe achondroplasia with developmental delay and acanthosis nigricans (SADDAN) due to the FGFR3 Lys650Met mutation.
    American journal of medical genetics. Part A, 2008, Jan-15, Volume: 146A, Issue:2

    Topics: Acanthosis Nigricans; Achondroplasia; Amino Acid Substitution; Developmental Disabilities; Female; Fetus; Humans; Infant, Newborn; Lysine; Male; Methionine; Mutation, Missense; Pregnancy; Receptor, Fibroblast Growth Factor, Type 3; Ultrasonography, Prenatal

2008
Subdural hemorrhage as an initial sign of glutaric aciduria type 1: a diagnostic pitfall.
    Pediatric radiology, 1996, Volume: 26, Issue:11

    Topics: Amino Acid Metabolism, Inborn Errors; Atrophy; Cisterna Magna; Developmental Disabilities; Diagnosis, Differential; Female; Frontal Lobe; Glutarates; Glutaryl-CoA Dehydrogenase; Hematoma, Subdural; Humans; Infant; Lysine; Magnetic Resonance Imaging; Movement Disorders; Oxidoreductases; Oxidoreductases Acting on CH-CH Group Donors; Psychomotor Performance; Temporal Lobe; Tomography, X-Ray Computed; Tryptophan

1996
Severe achondroplasia with developmental delay and acanthosis nigricans (SADDAN): phenotypic analysis of a new skeletal dysplasia caused by a Lys650Met mutation in fibroblast growth factor receptor 3.
    American journal of medical genetics, 1999, Jul-02, Volume: 85, Issue:1

    Topics: Acanthosis Nigricans; Developmental Disabilities; Female; Humans; Infant, Newborn; Lysine; Male; Methionine; Osteochondrodysplasias; Phenotype; Point Mutation; Protein-Tyrosine Kinases; Radiography; Receptor, Fibroblast Growth Factor, Type 3; Receptors, Fibroblast Growth Factor; Skull

1999