threonine and Genetic Diseases, X-Chromosome Linked

threonine has been researched along with Genetic Diseases, X-Chromosome Linked in 4 studies

Research

Studies (4)

TimeframeStudies, this research(%)All Research%
pre-19900 (0.00)18.7374
1990's0 (0.00)18.2507
2000's3 (75.00)29.6817
2010's1 (25.00)24.3611
2020's0 (0.00)2.80

Authors

AuthorsStudies
Becker-Rose, P; Clausmeyer, S; Clemens, PC; Engelbach, M; Hesse, V; Kreuzer, M; Raue, F; Schulze, E; Spital, H1
Bojang, P; Furukawa, T; Goldberg, AF; Gregg, RG; Hirschtritt, ME; Koike, C; McCall, MA; Nawy, S; Nishina, PM; Peachey, NS; Pearring, JN; Ray, TA; Shen, Y; Sturgill-Short, G1
Robertson, SP1
Cox, TC; Hopwood, B; Short, KM; Yi, Z1

Other Studies

4 other study(ies) available for threonine and Genetic Diseases, X-Chromosome Linked

ArticleYear
Mutational analysis of the PHEX gene: novel point mutations and detection of large deletions by MLPA in patients with X-linked hypophosphatemic rickets.
    Calcified tissue international, 2009, Volume: 85, Issue:3

    Topics: Amino Acid Sequence; Child, Preschool; DNA Mutational Analysis; Exons; Familial Hypophosphatemic Rickets; Female; Gene Deletion; Gene Frequency; Genetic Diseases, X-Linked; Genetic Markers; Genetic Predisposition to Disease; Genotype; Humans; Infant; Male; Molecular Biology; PHEX Phosphate Regulating Neutral Endopeptidase; Point Mutation; Polymorphism, Genetic; Threonine

2009
Depolarizing bipolar cell dysfunction due to a Trpm1 point mutation.
    Journal of neurophysiology, 2012, Volume: 108, Issue:9

    Topics: Action Potentials; Amino Acid Sequence; Amino Acids; Animals; Capsaicin; Chromosome Mapping; Chromosomes, Mammalian; Dendrites; Disease Models, Animal; Exons; Eye Diseases, Hereditary; Genetic Diseases, X-Linked; Heterozygote; Mice; Mice, Transgenic; Molecular Sequence Data; Mutation, Missense; Myopia; Night Blindness; Point Mutation; Retina; Retinal Bipolar Cells; Sequence Analysis, DNA; Threonine; TRPM Cation Channels; Xanthenes

2012
Filamin a, periventricular nodular heterotopia, and West syndrome.
    Epilepsia, 2006, Volume: 47, Issue:6

    Topics: Brain Diseases; Cerebral Ventricles; Choristoma; Contractile Proteins; Developmental Disabilities; Electroencephalography; Exons; Female; Filamins; Genetic Diseases, X-Linked; Humans; Infant; Male; Methionine; Microfilament Proteins; Mutation; Mutation, Missense; Pedigree; Phenotype; Polymorphism, Single Nucleotide; Sequence Analysis, Protein; Spasms, Infantile; Threonine

2006
MID1 and MID2 homo- and heterodimerise to tether the rapamycin-sensitive PP2A regulatory subunit, alpha 4, to microtubules: implications for the clinical variability of X-linked Opitz GBBB syndrome and other developmental disorders.
    BMC cell biology, 2002, Volume: 3

    Topics: Amino Acid Motifs; Binding Sites; Dimerization; Genetic Diseases, X-Linked; Humans; Ligases; Microtubule Proteins; Microtubule-Associated Proteins; Microtubules; Nuclear Proteins; Phosphoprotein Phosphatases; Phosphorylation; Protein Binding; Protein Subunits; Regulatory Sequences, Nucleic Acid; Sequence Deletion; Serine; Signal Transduction; Sirolimus; Smith-Lemli-Opitz Syndrome; Threonine; Transcription Factors; Two-Hybrid System Techniques; Ubiquitin-Protein Ligases

2002