serine has been researched along with Acrocephalosyndactylia in 11 studies
Serine: A non-essential amino acid occurring in natural form as the L-isomer. It is synthesized from GLYCINE or THREONINE. It is involved in the biosynthesis of PURINES; PYRIMIDINES; and other amino acids.
serine : An alpha-amino acid that is alanine substituted at position 3 by a hydroxy group.
Acrocephalosyndactylia: Congenital craniostenosis with syndactyly.
| Excerpt | Relevance | Reference |
|---|---|---|
| "Apert syndrome is a monogenic human disorder in which cleft palate has been significantly correlated to the fibroblast growth factor receptor (FGFR) 2-Ser252Trp mutation." | 1.31 | Toward pathogenesis of Apert cleft palate: FGF, FGFR, and TGF beta genes are differentially expressed in sequential stages of human palatal shelf fusion. ( Britto, JA; Evans, RD; Hayward, RD; Jones, BM, 2002) |
| "[1996: Am J Med Genet 66:138-143] as Pfeiffer syndrome type III with normal thumbs." | 1.30 | Phenotype of the fibroblast growth factor receptor 2 Ser351Cys mutation: Pfeiffer syndrome type III. ( Bartlett, SP; Gripp, KW; Katowitz, JA; Markowitz, RI; McDonald-McGinn, DM; Muenke, M; Stolle, CA; Zackai, EH, 1998) |
| Timeframe | Studies, this research(%) | All Research% |
|---|---|---|
| pre-1990 | 0 (0.00) | 18.7374 |
| 1990's | 4 (36.36) | 18.2507 |
| 2000's | 6 (54.55) | 29.6817 |
| 2010's | 1 (9.09) | 24.3611 |
| 2020's | 0 (0.00) | 2.80 |
| Authors | Studies |
|---|---|
| Mundhofir, FE | 1 |
| Sistermans, EA | 1 |
| Faradz, SM | 1 |
| Hamel, BC | 1 |
| Chen, L | 1 |
| Li, D | 1 |
| Li, C | 1 |
| Engel, A | 1 |
| Deng, CX | 1 |
| Anderson, PJ | 1 |
| Netherway, DJ | 1 |
| Cox, TC | 1 |
| Roscioli, T | 1 |
| David, DJ | 1 |
| Stevens, CA | 1 |
| Roeder, ER | 1 |
| Lomri, A | 2 |
| Lemonnier, J | 2 |
| Hott, M | 2 |
| de Parseval, N | 1 |
| Lajeunie, E | 1 |
| Munnich, A | 1 |
| Renier, D | 1 |
| Marie, PJ | 2 |
| Mathijssen, IM | 1 |
| Vaandrager, JM | 1 |
| Hoogeboom, AJ | 1 |
| Hesseling-Janssen, AL | 1 |
| van den Ouweland, AM | 1 |
| Gripp, KW | 1 |
| Stolle, CA | 1 |
| McDonald-McGinn, DM | 1 |
| Markowitz, RI | 1 |
| Bartlett, SP | 1 |
| Katowitz, JA | 1 |
| Muenke, M | 1 |
| Zackai, EH | 1 |
| Passos-Bueno, MR | 1 |
| Richieri-Costa, A | 1 |
| Sertié, AL | 1 |
| Kneppers, A | 1 |
| Delannoy, P | 1 |
| Modrowski, D | 1 |
| Sakai, N | 1 |
| Tokunaga, K | 1 |
| Yamazaki, Y | 1 |
| Shida, H | 1 |
| Sakata, Y | 1 |
| Susami, T | 1 |
| Nakakita, N | 1 |
| Takato, T | 1 |
| Uchinuma, E | 1 |
| Britto, JA | 1 |
| Evans, RD | 1 |
| Hayward, RD | 1 |
| Jones, BM | 1 |
11 other studies available for serine and Acrocephalosyndactylia
| Article | Year |
|---|---|
p.Ser252Trp and p.Pro253Arg mutations in FGFR2 gene causing Apert syndrome: the first clinical and molecular report of Indonesian patients.
Topics: Acrocephalosyndactylia; Arginine; DNA Mutational Analysis; Fatal Outcome; Genetic Association Studie | 2013 |
A Ser252Trp [corrected] substitution in mouse fibroblast growth factor receptor 2 (Fgfr2) results in craniosynostosis.
Topics: Acrocephalosyndactylia; Amino Acid Substitution; Animals; Apoptosis; bcl-2-Associated X Protein; Bon | 2003 |
Do Craniosynostosis syndrome phenotypes with both FGFR2 and TWIST mutations have a worse clinical outcome?
Topics: Acrocephalosyndactylia; Adenine; Adolescent; Arginine; Child, Preschool; Craniofacial Dysostosis; Cr | 2006 |
Ser351Cys mutation in the fibroblast growth factor receptor 2 gene results in severe Pfeiffer syndrome.
Topics: Acrocephalosyndactylia; Cystine; Facies; Fatal Outcome; Female; Humans; Infant; Infant, Newborn; Mal | 2006 |
Increased calvaria cell differentiation and bone matrix formation induced by fibroblast growth factor receptor 2 mutations in Apert syndrome.
Topics: Acrocephalosyndactylia; Alkaline Phosphatase; Amino Acid Substitution; Blotting, Northern; Bone Matr | 1998 |
Pfeiffer's syndrome resulting from an S351C mutation in the fibroblast growth factor receptor-2 gene.
Topics: Acrocephalosyndactylia; Amino Acid Substitution; Cysteine; Female; Humans; Infant, Newborn; Point Mu | 1998 |
Phenotype of the fibroblast growth factor receptor 2 Ser351Cys mutation: Pfeiffer syndrome type III.
Topics: Abnormalities, Multiple; Acrocephalosyndactylia; Amino Acid Substitution; Cysteine; Elbow; Eye Abnor | 1998 |
Presence of the Apert canonical S252W FGFR2 mutation in a patient without severe syndactyly.
Topics: Acrocephalosyndactylia; Child, Preschool; Foot Deformities, Congenital; Hand Deformities, Congenital | 1998 |
The Ser252Trp fibroblast growth factor receptor-2 (FGFR-2) mutation induces PKC-independent downregulation of FGFR-2 associated with premature calvaria osteoblast differentiation.
Topics: Acrocephalosyndactylia; Amino Acid Substitution; Cell Differentiation; Cell Division; DNA Primers; D | 2000 |
Sequence analysis of fibroblast growth factor receptor 2 ( FGFR2 ) in Japanese patients with craniosynostosis.
Topics: Acrocephalosyndactylia; Arginine; Cleft Palate; Codon; Craniofacial Dysostosis; Craniosynostoses; Ex | 2001 |
Toward pathogenesis of Apert cleft palate: FGF, FGFR, and TGF beta genes are differentially expressed in sequential stages of human palatal shelf fusion.
Topics: Acrocephalosyndactylia; Apoptosis; Cleft Palate; DNA-Binding Proteins; Epithelium; Exons; Fibroblast | 2002 |