A genetic-pathophysiological framework for craniosynostosis
Craniosynostosis, the premature fusion of one or more cranial sutures of the skull, provides
a paradigm for investigating the interplay of genetic and environmental factors leading to …
a paradigm for investigating the interplay of genetic and environmental factors leading to …
Biology of bone formation, fracture healing, and distraction osteogenesis
Distraction osteogenesis is a bone-regenerative process in which an osteotomy is followed
by distraction of the surrounding vascularized bone segments, with formation of new bone …
by distraction of the surrounding vascularized bone segments, with formation of new bone …
Two locus inheritance of non-syndromic midline craniosynostosis via rare SMAD6 and common BMP2 alleles
Premature fusion of the cranial sutures (craniosynostosis), affecting 1 in 2000 newborns, is
treated surgically in infancy to prevent adverse neurologic outcomes. To identify mutations …
treated surgically in infancy to prevent adverse neurologic outcomes. To identify mutations …
Understanding craniosynostosis as a growth disorder
Craniosynostosis is a condition of complex etiology that always involves the premature
fusion of one or multiple cranial sutures and includes various anomalies of the soft and hard …
fusion of one or multiple cranial sutures and includes various anomalies of the soft and hard …
Tooth formation and eruption–lessons learnt from cleidocranial dysplasia
S Kreiborg, BL Jensen - European journal of oral sciences, 2018 - Wiley Online Library
The principles of formation, renewal, and eruption of teeth are discussed. Numerous genetic
aberrations may affect the formation and eruption of teeth. Cleidocranial dysplasia (CCD) …
aberrations may affect the formation and eruption of teeth. Cleidocranial dysplasia (CCD) …
Reduced dosage of ERF causes complex craniosynostosis in humans and mice and links ERK1/2 signaling to regulation of osteogenesis
The extracellular signal–related kinases 1 and 2 (ERK1/2) are key proteins mediating
mitogen-activated protein kinase signaling downstream of RAS: phosphorylation of ERK1/2 …
mitogen-activated protein kinase signaling downstream of RAS: phosphorylation of ERK1/2 …
Genetic advances in craniosynostosis
W Lattanzi, M Barba, L Di Pietro… - American journal of …, 2017 - Wiley Online Library
Craniosynostosis, the premature ossification of one or more skull sutures, is a clinically and
genetically heterogeneous congenital anomaly affecting approximately one in 2,500 live …
genetically heterogeneous congenital anomaly affecting approximately one in 2,500 live …
Genetics of nonsyndromic craniosynostosis
AT Timberlake, JA Persing - Plastic and reconstructive surgery, 2018 - journals.lww.com
Occurring once in every 2000 live births, craniosynostosis is one of the most frequent
congenital anomalies encountered by the craniofacial surgeon. Syndromic …
congenital anomalies encountered by the craniofacial surgeon. Syndromic …
A genome-wide association study identifies susceptibility loci for nonsyndromic sagittal craniosynostosis near BMP2 and within BBS9
Sagittal craniosynostosis is the most common form of craniosynostosis, affecting
approximately one in 5,000 newborns. We conducted, to our knowledge, the first genome …
approximately one in 5,000 newborns. We conducted, to our knowledge, the first genome …
Recent advances in craniosynostosis
Craniosynostosis is a pathologic craniofacial disorder and is defined as the premature
fusion of one or more cranial (calvarial) sutures. Cranial sutures are fibrous joints consisting …
fusion of one or more cranial (calvarial) sutures. Cranial sutures are fibrous joints consisting …