Genetics of craniosynostosis: genes, syndromes, mutations and genotype-phenotype correlations
MR Passos-Bueno, AL Sertié, FS Jehee… - Craniofacial …, 2008 - karger.com
Craniosynostosis is a very heterogeneous group of disorders, in the etiology of which
genetics play an important role. Chromosomal alterations are important causative …
genetics play an important role. Chromosomal alterations are important causative …
Extracellular point mutations in FGFR2 elicit unexpected changes in intracellular signalling
An understanding of cellular signalling from a systems-based approach has to be robust to
assess the effects of point mutations in component proteins. Outcomes of these …
assess the effects of point mutations in component proteins. Outcomes of these …
Expression of two novel alternatively spliced COL2A1 isoforms during chondrocyte differentiation
A McAlinden, B Johnstone, J Kollar, N Kazmi… - Matrix Biology, 2008 - Elsevier
Alternative splicing of the type II procollagen gene (COL2A1) is developmentally regulated
during chondrogenesis. Type IIA procollagen (+ exon 2) is synthesized by …
during chondrogenesis. Type IIA procollagen (+ exon 2) is synthesized by …
Short‐period effects of zirconia and titanium on osteoblast microRNAs
A Palmieri, F Pezzetti, G Brunelli… - … implant dentistry and …, 2008 - Wiley Online Library
Background: MicroRNAs (miRNAs) are a class of small, functional, noncoding RNAs of 19 to
23 nucleotides which induce degradation of specific messenger RNAs (mRNAs), thus …
23 nucleotides which induce degradation of specific messenger RNAs (mRNAs), thus …
Common variation in the fibroblast growth factor receptor 2 gene is not associated with endometriosis risk
ZZ Zhao, PM Pollock, S Thomas, SA Treloar… - Human …, 2008 - academic.oup.com
BACKGROUND Endometriosis is a polygenic disease with a complex and multifactorial
aetiology that affects 8–10% of women of reproductive age. Epidemiological data support a …
aetiology that affects 8–10% of women of reproductive age. Epidemiological data support a …