serine and Acrocephaly
serine has been researched along with Acrocephaly in 6 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.
Acrocephaly: Premature closing of the lambdoid and coronal sutures.
Research Excerpts
| Excerpt | Relevance | Reference |
|---|---|---|
| "Beare-Stevenson syndrome is characterized by cutis gyrata, acanthosis nigricans, skin furrows, skin tags, craniosynostosis, Crouzonoid-like features in some cases and cloverleaf skull in others, anogenital anomalies, and prominent umbilical stump." | 1.35 | Second case of Beare-Stevenson syndrome with an FGFR2 Ser372Cys mutation. ( Cosentino, V; Costa-Lima, MA; Fonseca, R; Orioli, IM, 2008) |
Research
Studies (6)
| Timeframe | Studies, this research(%) | All Research% |
|---|---|---|
| pre-1990 | 0 (0.00) | 18.7374 |
| 1990's | 1 (16.67) | 18.2507 |
| 2000's | 5 (83.33) | 29.6817 |
| 2010's | 0 (0.00) | 24.3611 |
| 2020's | 0 (0.00) | 2.80 |
Authors
| Authors | Studies |
|---|---|
| Anderson, PJ | 1 |
| Netherway, DJ | 1 |
| Cox, TC | 1 |
| Roscioli, T | 1 |
| David, DJ | 1 |
| Fonseca, R | 1 |
| Costa-Lima, MA | 1 |
| Cosentino, V | 1 |
| Orioli, IM | 1 |
| Oldridge, M | 1 |
| Lunt, PW | 1 |
| Zackai, EH | 1 |
| McDonald-McGinn, DM | 1 |
| Muenke, M | 1 |
| Moloney, DM | 1 |
| Twigg, SR | 1 |
| Heath, JK | 1 |
| Howard, TD | 1 |
| Hoganson, G | 1 |
| Gagnon, DM | 1 |
| Jabs, EW | 1 |
| Wilkie, AO | 2 |
| Johnson, D | 1 |
| Wall, SA | 1 |
| Mann, S | 1 |
| Yang, CF | 1 |
| Wu, JY | 1 |
| Tsai, FJ | 1 |
| Lee, CC | 1 |
| Lin, WD | 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 |
Other Studies
6 other studies available for serine and Acrocephaly
| Article | Year |
|---|---|
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 |
Second case of Beare-Stevenson syndrome with an FGFR2 Ser372Cys mutation.
Topics: Abnormalities, Multiple; Amino Acid Substitution; Base Sequence; Craniosynostoses; Cysteine; Humans; | 2008 |
Genotype-phenotype correlation for nucleotide substitutions in the IgII-IgIII linker of FGFR2.
Topics: Adult; Child; Craniosynostoses; Dipeptides; Female; Foot Deformities, Congenital; Genotype; Hand Def | 1997 |
A novel mutation, Ala315Ser, in FGFR2: a gene-environment interaction leading to craniosynostosis?
Topics: Alanine; Amino Acid Sequence; Base Sequence; Craniosynostoses; DNA Primers; Environmental Exposure; | 2000 |
Identification of a polymorphism (G83S) in the TWIST gene in Taiwanese.
Topics: Amino Acid Substitution; Asian People; Craniosynostoses; Glycine; Helix-Loop-Helix Motifs; Humans; M | 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 |