Compounds > arginine

arginine and Acrocephalosyndactylia

arginine has been researched along with Acrocephalosyndactylia in 13 studies

Research

Studies (13)

TimeframeStudies, this research(%)All Research%
pre-19900 (0.00)18.7374
1990's2 (15.38)18.2507
2000's8 (61.54)29.6817
2010's3 (23.08)24.3611
2020's0 (0.00)2.80

Authors

AuthorsStudies
Faradz, SM; Hamel, BC; Mundhofir, FE; Sistermans, EA1
Ang, BU; Kirschner, RE; Nah, HD; Spivak, RM1
de Jong, T; Hoogeboom, AJ; Mathijssen, IM1
Aisa, MC; Baroni, T; Bellucci, C; Bodo, M; Calvitti, M; Carinci, F; Carinci, P; Conte, C; Farina, A; Lilli, C; Pezzetti, F; Scapoli, L; Volinia, S1
Büsse-Ratzka, M; Collmann, H; Hoppe, F; Krauss, J; Kress, W; Kunz, J; Lieb, G; Pahnke, J; Petersen, B; Reinhart, E; Schäfer, WD; Schropp, C; Sold, J; Sörensen, N; Trusen, A1
Anderson, PJ; Cox, TC; David, DJ; Netherway, DJ; Roscioli, T1
Aisa, C; Baroni, T; Bellucci, C; Bodo, M; Carinci, F; Carinci, P; Lilli, C; Lumare, E; Pezzetti, F; Scapoli, L; Stabellini, G1
Boles, RG; Dhamcharee, V1
Chen, L; Chen, Z; Deng, C; Du, X; Jin, M; Li, C; Li, F; Qi, H; Su, N; Xu, X; Xue, J; Yang, J; Yin, L; Zhao, L1
Baraister, M; Dean, JC; Evans, RD; Hall, CM; Hayward, R; Jones, BM; Malcolm, S; Nevin, NC; Pulleyn, LJ; Reardon, W; Rutland, P; Wilkes, D; Winter, RM1
Alitalo, K; Gaudenz, K; Muenke, M; Roessler, E; Vainikka, S1
Brodie, SG; Chen, L; Deng, CX; Li, C; Xu, X; Zhou, YX1
Nakakita, N; Sakai, N; Sakata, Y; Shida, H; Susami, T; Takato, T; Tokunaga, K; Uchinuma, E; Yamazaki, Y1

Other Studies

13 other study(ies) available for arginine 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
Dura in the pathogenesis of syndromic craniosynostosis: fibroblast growth factor receptor 2 mutations in dural cells promote osteogenic proliferation and differentiation of osteoblasts.
    The Journal of craniofacial surgery, 2010, Volume: 21, Issue:2

    Topics: Acrocephalosyndactylia; Adenoviridae; Alkaline Phosphatase; Animals; Arginine; Biomarkers; Cell Differentiation; Cell Proliferation; Cells, Cultured; Coculture Techniques; Coloring Agents; Core Binding Factor Alpha 1 Subunit; Craniofacial Dysostosis; Craniosynostoses; Cysteine; Dura Mater; Genetic Vectors; Mice; Osteoblasts; Osteogenesis; Osteopontin; Phenylalanine; Point Mutation; Receptor, Fibroblast Growth Factor, Type 2; Syndrome; Tetrazolium Salts; Thiazoles

2010
Additional phenotypic features of Muenke syndrome in 2 Dutch families.
    The Journal of craniofacial surgery, 2011, Volume: 22, Issue:2

    Topics: Acrocephalosyndactylia; Arginine; Craniosynostoses; Female; Humans; Male; Netherlands; Pedigree; Phenotype; Proline; Receptor, Fibroblast Growth Factor, Type 3

2011
P253R fibroblast growth factor receptor-2 mutation induces RUNX2 transcript variants and calvarial osteoblast differentiation.
    Journal of cellular physiology, 2005, Volume: 202, Issue:2

    Topics: Acrocephalosyndactylia; Adolescent; Arginine; Cell Differentiation; Cells, Cultured; Core Binding Factor Alpha 1 Subunit; Genetic Variation; Humans; Mutation; Neoplasm Proteins; Osteoblasts; Parietal Bone; Proline; Receptor Protein-Tyrosine Kinases; Receptor, Fibroblast Growth Factor, Type 2; Receptors, Fibroblast Growth Factor; RNA, Messenger; Transcription Factors

2005
Saethre-Chotzen syndrome caused by TWIST 1 gene mutations: functional differentiation from Muenke coronal synostosis syndrome.
    European journal of human genetics : EJHG, 2006, Volume: 14, Issue:1

    Topics: Acrocephalosyndactylia; Adolescent; Amino Acid Substitution; Arginine; Child, Preschool; Ear; Hearing Loss, Sensorineural; Humans; Intellectual Disability; Intracranial Pressure; Mutation; Nuclear Proteins; Pedigree; Proline; Receptor, Fibroblast Growth Factor, Type 3; Repetitive Sequences, Nucleic Acid; Syndrome; Synostosis; Twist-Related Protein 1

2006
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
FGF2 effects in periosteal fibroblasts bearing the FGFR2 receptor Pro253 Arg mutation.
    Cytokine, 2007, Volume: 38, Issue:1

    Topics: Acrocephalosyndactylia; Adolescent; Arginine; Cell Count; Collagen Type I; Craniofacial Dysostosis; DNA Mutational Analysis; Extracellular Matrix; Fibroblast Growth Factor 2; Fibroblasts; Fibronectins; Glycoside Hydrolases; Humans; Matrix Metalloproteinase 1; Mutation; Peptide Hydrolases; Periosteum; Phenotype; Proline; Proteoglycans; Receptor, Fibroblast Growth Factor, Type 2; RNA, Messenger

2007
FGFR mutations and plagiocephaly.
    The Journal of craniofacial surgery, 2008, Volume: 19, Issue:1

    Topics: Acrocephalosyndactylia; Arginine; Craniofacial Dysostosis; Craniosynostoses; Electrophoresis; Exons; Genetic Predisposition to Disease; Genetic Variation; Humans; Infant; Mutation; Plagiocephaly, Nonsynostotic; Proline; Receptor, Fibroblast Growth Factor, Type 1; Receptor, Fibroblast Growth Factor, Type 2; Receptor, Fibroblast Growth Factor, Type 3; Receptors, Fibroblast Growth Factor

2008
A Pro253Arg mutation in fibroblast growth factor receptor 2 (Fgfr2) causes skeleton malformation mimicking human Apert syndrome by affecting both chondrogenesis and osteogenesis.
    Bone, 2008, Volume: 42, Issue:4

    Topics: Acrocephalosyndactylia; Animals; Arginine; Biomimetics; Cells, Cultured; Chondrogenesis; Disease Models, Animal; Humans; MAP Kinase Signaling System; Mice; Mice, Transgenic; Mitogen-Activated Protein Kinase 1; Mitogen-Activated Protein Kinase 3; Mutation; Ossification, Heterotopic; Osteogenesis; Proline; Receptor, Fibroblast Growth Factor, Type 2; Skeleton

2008
Craniosynostosis associated with FGFR3 pro250arg mutation results in a range of clinical presentations including unisutural sporadic craniosynostosis.
    Journal of medical genetics, 1997, Volume: 34, Issue:8

    Topics: Acrocephalosyndactylia; Adult; Arginine; Child; Child, Preschool; Craniosynostoses; Female; Fibroblast Growth Factors; Humans; Intellectual Disability; Male; Mutation; Proline; Protein-Tyrosine Kinases; Receptor, Fibroblast Growth Factor, Type 3; Receptors, Fibroblast Growth Factor

1997
Analysis of patients with craniosynostosis syndromes for a pro246Arg mutation of FGFR4.
    Molecular genetics and metabolism, 1998, Volume: 64, Issue:1

    Topics: Acrocephalosyndactylia; Arginine; Base Sequence; Child; Craniosynostoses; Deoxyribonucleases, Type II Site-Specific; Genetic Testing; Humans; Point Mutation; Polymerase Chain Reaction; Polymorphism, Single-Stranded Conformational; Proline; Protein-Tyrosine Kinases; Receptor Protein-Tyrosine Kinases; Receptor, Fibroblast Growth Factor, Type 1; Receptor, Fibroblast Growth Factor, Type 2; Receptor, Fibroblast Growth Factor, Type 3; Receptor, Fibroblast Growth Factor, Type 4; Receptors, Fibroblast Growth Factor; Sequence Homology, Amino Acid

1998
A Pro250Arg substitution in mouse Fgfr1 causes increased expression of Cbfa1 and premature fusion of calvarial sutures.
    Human molecular genetics, 2000, Aug-12, Volume: 9, Issue:13

    Topics: Acrocephalosyndactylia; Amino Acid Substitution; Animals; Arginine; Blotting, Southern; Cell Differentiation; Core Binding Factor Alpha 1 Subunit; Humans; In Situ Hybridization; Mice; Mice, Inbred C3H; Mice, Mutant Strains; Mutation, Missense; Neoplasm Proteins; Osteoblasts; Proline; Receptor Protein-Tyrosine Kinases; Receptor, Fibroblast Growth Factor, Type 1; Receptors, Fibroblast Growth Factor; Reverse Transcriptase Polymerase Chain Reaction; Skull; Transcription Factors; Transfection

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