threonine and Smith-Lemli-Opitz Syndrome

threonine has been researched along with Smith-Lemli-Opitz Syndrome in 3 studies

Research

Studies (3)

TimeframeStudies, this research(%)All Research%
pre-19900 (0.00)18.7374
1990's0 (0.00)18.2507
2000's2 (66.67)29.6817
2010's1 (33.33)24.3611
2020's0 (0.00)2.80

Authors

AuthorsStudies
Caglayan, AO; Ceylaner, G; Ceylaner, S; Degerliyurt, A; Hatipoglu, N; Hinderhofer, K; Kalb, S; Kurtoglu, S; Rehder, H; Schmid, S; Witsch-Baumgartner, M; Zschocke, J1
Correa-Cerro, LS; Fliesler, SJ; Grinberg, A; Kratz, L; Miller, GF; Munasinghe, JP; Porter, FD; Wassif, CA1
Cox, TC; Hopwood, B; Short, KM; Yi, Z1

Other Studies

3 other study(ies) available for threonine and Smith-Lemli-Opitz Syndrome

ArticleYear
High frequency of p.Thr93Met in Smith-Lemli-Opitz syndrome patients in Turkey.
    Clinical genetics, 2012, Volume: 81, Issue:6

    Topics: Adolescent; Child; Child, Preschool; Female; Humans; Male; Methionine; Mutation; Oxidoreductases Acting on CH-CH Group Donors; Smith-Lemli-Opitz Syndrome; Threonine; Turkey

2012
Development and characterization of a hypomorphic Smith-Lemli-Opitz syndrome mouse model and efficacy of simvastatin therapy.
    Human molecular genetics, 2006, Mar-15, Volume: 15, Issue:6

    Topics: 3T3 Cells; Alleles; Amino Acid Substitution; Animals; Cells, Cultured; Crosses, Genetic; Disease Models, Animal; Embryonic Stem Cells; Female; Magnetic Resonance Spectroscopy; Methionine; Mice; Mice, Inbred C57BL; Mutagenesis, Site-Directed; Oxidoreductases Acting on CH-CH Group Donors; Phenotype; Simvastatin; Smith-Lemli-Opitz Syndrome; 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