arginine and Genetic Diseases, X-Chromosome Linked

arginine has been researched along with Genetic Diseases, X-Chromosome Linked in 8 studies

Research

Studies (8)

TimeframeStudies, this research(%)All Research%
pre-19901 (12.50)18.7374
1990's0 (0.00)18.2507
2000's5 (62.50)29.6817
2010's2 (25.00)24.3611
2020's0 (0.00)2.80

Authors

AuthorsStudies
Hyun, HK; Kim, JW; Ko, J; Lee, KE; Lee, SH; Shin, TJ1
Chen, M; Chui, D; Li, Q; Lin, X; Liu, K1
OSSERMAN, EF; WEINSTEIN, IB1
Blijlevens, N; Furuyama, K; Hamel, BC; Harigae, H; Heller, T; Kuribara, T; Minder, EI; Sassa, S; Shibahara, S; Shimizu, T1
Ariga, T; Kida, M; Matsuda, A; Minamitake, S; Ochi, H; Sakiyama, Y; Sekiguchi, H; Takabayashi, S1
Clark, RD; Friez, MJ; Graham, JM; Jones, JR; Joseph, SM; May, M; Moeschler, JB; Opitz, JM; Peiffer, AP; Risheg, H; Rogers, RC; Schwartz, CE; Stevenson, RE1
Branham, K; Cantrell, AD; Iannaccone, A; Jennings, BJ; Othman, MI; Swaroop, A1
Gillard, J; Hackett, A; Wilcken, B1

Trials

1 trial(s) available for arginine and Genetic Diseases, X-Chromosome Linked

ArticleYear
n of 1 trial for an ornithine transcarbamylase deficiency carrier.
    Molecular genetics and metabolism, 2008, Volume: 94, Issue:2

    Topics: Affect; Arginine; Cross-Over Studies; Double-Blind Method; Female; Genetic Diseases, X-Linked; Glutamine; Heterozygote; Humans; Male; Middle Aged; Ornithine Carbamoyltransferase; Ornithine Carbamoyltransferase Deficiency Disease; Quality of Life; Surveys and Questionnaires; X Chromosome Inactivation

2008

Other Studies

7 other study(ies) available for arginine and Genetic Diseases, X-Chromosome Linked

ArticleYear
Oligodontia and curly hair occur with ectodysplasin-a mutations.
    Journal of dental research, 2014, Volume: 93, Issue:4

    Topics: Anodontia; Arginine; Child; Child, Preschool; Codon; Conserved Sequence; Ectodysplasins; Exome; Gene Frequency; Genetic Diseases, X-Linked; Genetic Variation; Guanine; Hair; Humans; Leucine; Male; Mutation, Missense; Pedigree; Phenylalanine; Signal Transduction; Thymine; Valine

2014
Vocal cord paresis and probable X-linked Charcot-Marie-Tooth disease with novel GJB1 mutation.
    The International journal of neuroscience, 2010, Volume: 120, Issue:11

    Topics: Adolescent; Adult; Aged; Arginine; Charcot-Marie-Tooth Disease; China; Connexins; Female; Gap Junction beta-1 Protein; Genetic Diseases, X-Linked; Humans; Male; Point Mutation; Respiratory Insufficiency; Serine; Vocal Cord Paralysis

2010
AMINO ACID INCORPORATION INTO PROTEIN BY A CELL FREE SYSTEM FROM PLASMA CELL TUMORS.
    Acta - Unio Internationalis Contra Cancrum, 1964, Volume: 20

    Topics: Adenosine Triphosphate; Amino Acids; Arginine; Carbon Isotopes; Cell-Free System; Electrophoresis; gamma-Globulins; Genetic Diseases, X-Linked; Histocytochemistry; Leukemia, Hairy Cell; Liver; Lymphatic Diseases; Mice; Neoplasms, Experimental; Nucleotidyltransferases; Pharmacology; Plasmacytoma; Proteins; Puromycin; Rabbits; Rats; Research; Ribonucleases; Severe Combined Immunodeficiency

1964
Arg452 substitution of the erythroid-specific 5-aminolaevulinate synthase, a hot spot mutation in X-linked sideroblastic anaemia, does not itself affect enzyme activity.
    European journal of haematology, 2006, Volume: 76, Issue:1

    Topics: 5-Aminolevulinate Synthetase; Amino Acid Substitution; Anemia, Sideroblastic; Arginine; Bone Marrow; Erythrocytes; Genetic Diseases, X-Linked; Genetic Linkage; Organ Specificity; Pedigree; Phenotype; Point Mutation

2006
A novel missense mutation (p.P52R) in amelogenin gene causing X-linked amelogenesis imperfecta.
    Journal of dental research, 2007, Volume: 86, Issue:1

    Topics: Amelogenesis Imperfecta; Amelogenin; Arginine; Cytosine; Dental Enamel; Exons; Female; Genetic Diseases, X-Linked; Guanine; Heterozygote; Humans; Male; Mutation, Missense; Pedigree; Proline; Spectrometry, X-Ray Emission; X-Ray Diffraction

2007
A recurrent mutation in MED12 leading to R961W causes Opitz-Kaveggia syndrome.
    Nature genetics, 2007, Volume: 39, Issue:4

    Topics: Amino Acid Substitution; Arginine; Family; Female; Genetic Diseases, X-Linked; Humans; Intellectual Disability; Male; Mediator Complex; Muscle Hypotonia; Mutation; Pedigree; Receptors, Thyroid Hormone; Syndrome; Tryptophan

2007
Retinal phenotype of an X-linked pseudo-Usher syndrome in association with the G173R mutation in the RPGR gene.
    Advances in experimental medicine and biology, 2008, Volume: 613

    Topics: Arginine; DNA Mutational Analysis; Electroretinography; Eye Proteins; Female; Genetic Diseases, X-Linked; Hearing Loss, Sensorineural; Heterozygote; Humans; Male; Mutation, Missense; Otitis Media; Pedigree; Phenotype; Respiratory Tract Infections; Retina; Retinitis Pigmentosa; Usher Syndromes

2008