Compounds > tryptophan

tryptophan and Acrocephalosyndactylia

tryptophan has been researched along with Acrocephalosyndactylia in 10 studies

Research

Studies (10)

TimeframeStudies, this research(%)All Research%
pre-19900 (0.00)18.7374
1990's4 (40.00)18.2507
2000's5 (50.00)29.6817
2010's1 (10.00)24.3611
2020's0 (0.00)2.80

Authors

AuthorsStudies
Faradz, SM; Hamel, BC; Mundhofir, FE; Sistermans, EA1
Chen, L; Deng, CX; Engel, A; Li, C; Li, D1
Anderson, PJ; Cox, TC; David, DJ; Netherway, DJ; Roscioli, T1
Battaglia, PA; Di Rocco, C; Tartaglia, M; Valeri, S; Velardi, F1
Anderson, C; Can, B; Say, B; Schaefer, F1
de Parseval, N; Hott, M; Lajeunie, E; Lemonnier, J; Lomri, A; Marie, PJ; Munnich, A; Renier, D1
Kneppers, A; Passos-Bueno, MR; Richieri-Costa, A; Sertié, AL1
Delannoy, P; Hott, M; Lemonnier, J; Lomri, A; Marie, PJ; Modrowski, D1
Nakakita, N; Sakai, N; Sakata, Y; Shida, H; Susami, T; Takato, T; Tokunaga, K; Uchinuma, E; Yamazaki, Y1
Britto, JA; Evans, RD; Hayward, RD; Jones, BM1

Other Studies

10 other study(ies) available for tryptophan and Acrocephalosyndactylia

ArticleYear
p.Ser252Trp and p.Pro253Arg mutations in FGFR2 gene causing Apert syndrome: the first clinical and molecular report of Indonesian patients.
    Singapore medical journal, 2013, Volume: 54, Issue:3

    Topics: Acrocephalosyndactylia; Arginine; DNA Mutational Analysis; Fatal Outcome; Genetic Association Studies; Humans; Indonesia; Infant; Infant, Newborn; Male; Mutation; Proline; Receptor, Fibroblast Growth Factor, Type 2; Serine; Tryptophan

2013
A Ser252Trp [corrected] substitution in mouse fibroblast growth factor receptor 2 (Fgfr2) results in craniosynostosis.
    Bone, 2003, Volume: 33, Issue:2

    Topics: Acrocephalosyndactylia; Amino Acid Substitution; Animals; Apoptosis; bcl-2-Associated X Protein; Bone Development; Cell Differentiation; Cell Division; Cranial Sutures; Heterozygote; Mice; Mice, Mutant Strains; Osteoblasts; Phenotype; Proto-Oncogene Proteins; Proto-Oncogene Proteins c-bcl-2; Receptor Protein-Tyrosine Kinases; Receptor, Fibroblast Growth Factor, Type 2; Receptors, Fibroblast Growth Factor; Serine; Signal Transduction; Tryptophan

2003
Do Craniosynostosis syndrome phenotypes with both FGFR2 and TWIST mutations have a worse clinical outcome?
    The Journal of craniofacial surgery, 2006, Volume: 17, Issue:1

    Topics: Acrocephalosyndactylia; Adenine; Adolescent; Arginine; Child, Preschool; Craniofacial Dysostosis; Craniosynostoses; Cysteine; Cytosine; DNA Transposable Elements; Female; Follow-Up Studies; Guanine; Humans; Male; Mutation; Receptor, Fibroblast Growth Factor, Type 2; Sequence Deletion; Serine; Syndrome; Thymine; Treatment Outcome; Tryptophan; Twist-Related Protein 1

2006
Trp290Cys mutation in exon IIIa of the fibroblast growth factor receptor 2 (FGFR2) gene is associated with Pfeiffer syndrome.
    Human genetics, 1997, Volume: 99, Issue:5

    Topics: Acrocephalosyndactylia; Amino Acid Sequence; Base Sequence; Child, Preschool; Cysteine; DNA; Exons; Humans; Leukocytes; Male; Point Mutation; Polymerase Chain Reaction; Polymorphism, Single-Stranded Conformational; Receptor Protein-Tyrosine Kinases; Receptor, Fibroblast Growth Factor, Type 1; Receptor, Fibroblast Growth Factor, Type 2; Receptors, Fibroblast Growth Factor; Tryptophan

1997
Novel mutation in the FGFR2 gene at the same codon as the Crouzon syndrome mutations in a severe Pfeiffer syndrome type 2 case.
    American journal of medical genetics, 1998, Jan-23, Volume: 75, Issue:3

    Topics: Acrocephalosyndactylia; Amino Acid Sequence; Codon; Craniofacial Dysostosis; Cysteine; Exons; Female; Humans; Infant, Newborn; Molecular Sequence Data; Mutation; Receptor Protein-Tyrosine Kinases; Receptor, Fibroblast Growth Factor, Type 2; Receptors, Fibroblast Growth Factor; Tryptophan

1998
Increased calvaria cell differentiation and bone matrix formation induced by fibroblast growth factor receptor 2 mutations in Apert syndrome.
    The Journal of clinical investigation, 1998, Mar-15, Volume: 101, Issue:6

    Topics: Acrocephalosyndactylia; Alkaline Phosphatase; Amino Acid Substitution; Blotting, Northern; Bone Matrix; Cell Differentiation; Cell Division; Cells, Cultured; Collagen; Fetus; Fibroblast Growth Factor 2; Gene Expression; Histocytochemistry; Humans; Infant; Nitrophenols; Osteogenesis; Point Mutation; Receptors, Fibroblast Growth Factor; Serine; Skull; Tryptophan

1998
Presence of the Apert canonical S252W FGFR2 mutation in a patient without severe syndactyly.
    Journal of medical genetics, 1998, Volume: 35, Issue:8

    Topics: Acrocephalosyndactylia; Child, Preschool; Foot Deformities, Congenital; Hand Deformities, Congenital; Humans; Mutation; Receptor Protein-Tyrosine Kinases; Receptor, Fibroblast Growth Factor, Type 2; Receptors, Fibroblast Growth Factor; Serine; Syndactyly; Tryptophan

1998
The Ser252Trp fibroblast growth factor receptor-2 (FGFR-2) mutation induces PKC-independent downregulation of FGFR-2 associated with premature calvaria osteoblast differentiation.
    Experimental cell research, 2000, Apr-10, Volume: 256, Issue:1

    Topics: Acrocephalosyndactylia; Amino Acid Substitution; Cell Differentiation; Cell Division; DNA Primers; Down-Regulation; Fetus; Humans; Osteoblasts; Point Mutation; Protein Kinase C; Receptor Protein-Tyrosine Kinases; Receptor, Fibroblast Growth Factor, Type 2; Receptors, Fibroblast Growth Factor; Reference Values; Serine; Skull; Transcription, Genetic; Tryptophan

2000
Sequence analysis of fibroblast growth factor receptor 2 ( FGFR2 ) in Japanese patients with craniosynostosis.
    The Journal of craniofacial surgery, 2001, Volume: 12, Issue:6

    Topics: Acrocephalosyndactylia; Arginine; Cleft Palate; Codon; Craniofacial Dysostosis; Craniosynostoses; Exons; Female; Heterozygote; Humans; Japan; Male; Mutation; Polymerase Chain Reaction; Proline; Receptor Protein-Tyrosine Kinases; Receptor, Fibroblast Growth Factor, Type 2; Receptors, Fibroblast Growth Factor; Sequence Analysis, DNA; Serine; Syndactyly; Tryptophan

2001
Toward pathogenesis of Apert cleft palate: FGF, FGFR, and TGF beta genes are differentially expressed in sequential stages of human palatal shelf fusion.
    The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association, 2002, Volume: 39, Issue:3

    Topics: Acrocephalosyndactylia; Apoptosis; Cleft Palate; DNA-Binding Proteins; Epithelium; Exons; Fibroblast Growth Factor 2; Fibroblast Growth Factor 7; Fibroblast Growth Factors; Gene Expression Regulation, Developmental; Humans; Image Processing, Computer-Assisted; Immunohistochemistry; In Situ Hybridization; Keratinocytes; Mesoderm; Mutation; Palate; Protein Isoforms; Receptors, Fibroblast Growth Factor; Serine; Signal Transduction; STAT1 Transcription Factor; Trans-Activators; Transcription, Genetic; Transforming Growth Factor beta; Transforming Growth Factor beta3; Tryptophan; Up-Regulation

2002