arginine and Mental Retardation, X-Linked

arginine has been researched along with Mental Retardation, X-Linked in 6 studies

Research

Studies (6)

TimeframeStudies, this research(%)All Research%
pre-19900 (0.00)18.7374
1990's0 (0.00)18.2507
2000's2 (33.33)29.6817
2010's3 (50.00)24.3611
2020's1 (16.67)2.80

Authors

AuthorsStudies
Cai, T; Cinkornpumin, JK; Pastor, WA; Richard, S; Villarreal, OD; Yu, Z1
Groeneweg, S; Lima de Souza, EC; Meima, ME; Peeters, RP; Visser, TJ; Visser, WE1
Aydin, HI1
Collet, JP; Dunbar, M; Edgar, V; Elango, R; Jaggumantri, S; Mignone, C; Newlove, T; Sargent, M; Stockler-Ipsiroglu, S; van Karnebeek, CD1
Clark, RD; Dykens, E; Friez, MJ; Graham, JM; Huddleston, L; Jones, KL; Moeschler, JB; Morford, J; Opitz, JM; Rogers, RC; Schwartz, CE; Simensen, R; Stevenson, RE; Visootsak, J1
Bondeson, ML; Börjeson, M; Brun, A; Crawford, J; Gécz, J; Lower, KM; Malm, G; Nelson, J; Partington, M; Solders, G; Turner, G1

Other Studies

6 other study(ies) available for arginine and Mental Retardation, X-Linked

ArticleYear
Deletion of RBMX RGG/RG motif in Shashi-XLID syndrome leads to aberrant p53 activation and neuronal differentiation defects.
    Cell reports, 2021, 07-13, Volume: 36, Issue:2

    Topics: Adaptor Proteins, Signal Transducing; Alternative Splicing; Amino Acid Motifs; Arginine; Cell Cycle Proteins; Cell Differentiation; Cell Line, Tumor; Cell Nucleus; DNA-Binding Proteins; HEK293 Cells; Heterogeneous-Nuclear Ribonucleoproteins; Humans; Induced Pluripotent Stem Cells; Mental Retardation, X-Linked; Methylation; Neural Stem Cells; Neurogenesis; Neurons; Protein Binding; Protein Stability; Protein-Arginine N-Methyltransferases; Proto-Oncogene Proteins; RNA; RNA-Binding Proteins; Sequence Deletion; Serine-Arginine Splicing Factors; Tumor Suppressor Protein p53

2021
Outward-Open Model of Thyroid Hormone Transporter Monocarboxylate Transporter 8 Provides Novel Structural and Functional Insights.
    Endocrinology, 2017, 10-01, Volume: 158, Issue:10

    Topics: Animals; Arginine; Binding Sites; Biological Transport; Cell Line; Chlorocebus aethiops; COS Cells; Histidine; Humans; Mental Retardation, X-Linked; Models, Molecular; Molecular Structure; Monocarboxylic Acid Transporters; Muscle Hypotonia; Muscular Atrophy; Mutagenesis, Site-Directed; Mutation; Protein Conformation; Symporters; Thyroid Hormones; Transfection; Triiodothyronine

2017
Creatine Transporter Deficiency in Two Brothers with Autism Spectrum Disorder.
    Indian pediatrics, 2018, 01-15, Volume: 55, Issue:1

    Topics: Adolescent; Arginine; Autism Spectrum Disorder; Brain Diseases, Metabolic, Inborn; Child; Creatine; Glycine; Humans; Male; Mental Retardation, X-Linked; Nerve Tissue Proteins; Plasma Membrane Neurotransmitter Transport Proteins; S-Adenosylmethionine; Siblings

2018
Treatment of Creatine Transporter (SLC6A8) Deficiency With Oral S-Adenosyl Methionine as Adjunct to L-arginine, Glycine, and Creatine Supplements.
    Pediatric neurology, 2015, Volume: 53, Issue:4

    Topics: Administration, Oral; Arginine; Basal Ganglia; Brain Diseases, Metabolic, Inborn; Central Nervous System Agents; Child; Creatine; Drug Therapy, Combination; Follow-Up Studies; Glycine; Humans; Magnetic Resonance Spectroscopy; Male; Medication Adherence; Mental Retardation, X-Linked; Plasma Membrane Neurotransmitter Transport Proteins; S-Adenosylmethionine; Treatment Outcome

2015
Behavior of 10 patients with FG syndrome (Opitz-Kaveggia syndrome) and the p.R961W mutation in the MED12 gene.
    American journal of medical genetics. Part A, 2008, Dec-01, Volume: 146A, Issue:23

    Topics: Abnormalities, Multiple; Adolescent; Adult; Amino Acid Substitution; Arginine; Child; Child Behavior Disorders; Communication; Humans; Male; Mediator Complex; Mental Retardation, X-Linked; Receptors, Thyroid Hormone; Social Behavior Disorders; Socialization; Syndrome; Tryptophan; Young Adult

2008
1024C> T (R342X) is a recurrent PHF6 mutation also found in the original Börjeson-Forssman-Lehmann syndrome family.
    European journal of human genetics : EJHG, 2004, Volume: 12, Issue:10

    Topics: Arginine; Female; Humans; Hypogonadism; Male; Mental Retardation, X-Linked; Obesity; Pedigree; Point Mutation; Syndrome

2004