Page last updated: 2024-11-08

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

ExcerptRelevanceReference
"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."1.35Second case of Beare-Stevenson syndrome with an FGFR2 Ser372Cys mutation. ( Cosentino, V; Costa-Lima, MA; Fonseca, R; Orioli, IM, 2008)

Research

Studies (6)

TimeframeStudies, this research(%)All Research%
pre-19900 (0.00)18.7374
1990's1 (16.67)18.2507
2000's5 (83.33)29.6817
2010's0 (0.00)24.3611
2020's0 (0.00)2.80

Authors

AuthorsStudies
Anderson, PJ1
Netherway, DJ1
Cox, TC1
Roscioli, T1
David, DJ1
Fonseca, R1
Costa-Lima, MA1
Cosentino, V1
Orioli, IM1
Oldridge, M1
Lunt, PW1
Zackai, EH1
McDonald-McGinn, DM1
Muenke, M1
Moloney, DM1
Twigg, SR1
Heath, JK1
Howard, TD1
Hoganson, G1
Gagnon, DM1
Jabs, EW1
Wilkie, AO2
Johnson, D1
Wall, SA1
Mann, S1
Yang, CF1
Wu, JY1
Tsai, FJ1
Lee, CC1
Lin, WD1
Sakai, N1
Tokunaga, K1
Yamazaki, Y1
Shida, H1
Sakata, Y1
Susami, T1
Nakakita, N1
Takato, T1
Uchinuma, E1

Other Studies

6 other studies available for serine and Acrocephaly

ArticleYear
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; Cr

2006
Second case of Beare-Stevenson syndrome with an FGFR2 Ser372Cys mutation.
    American journal of medical genetics. Part A, 2008, Mar-01, Volume: 146A, Issue:5

    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.
    Human molecular genetics, 1997, Volume: 6, Issue:1

    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?
    European journal of human genetics : EJHG, 2000, Volume: 8, Issue:8

    Topics: Alanine; Amino Acid Sequence; Base Sequence; Craniosynostoses; DNA Primers; Environmental Exposure;

2000
Identification of a polymorphism (G83S) in the TWIST gene in Taiwanese.
    Human mutation, 2000, Volume: 16, Issue:5

    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.
    The Journal of craniofacial surgery, 2001, Volume: 12, Issue:6

    Topics: Acrocephalosyndactylia; Arginine; Cleft Palate; Codon; Craniofacial Dysostosis; Craniosynostoses; Ex

2001