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Nosology and Classification of Genetic Skeletal Disorders: 2010 Revision
The Nosology is a hybrid between a list of clinically defined disorders, waiting for molecular clarification, and an annotated database documenting the phenotypic spectrum produced by mutations in a given gene. Expand
Germline mutations in WTX cause a sclerosing skeletal dysplasia but do not predispose to tumorigenesis
It is demonstrated that germline mutations in WTX (FAM123B), a gene that encodes a repressor of canonical WNT signaling, cause an X-linked sclerosing bone dysplasia, osteopathia striata congenita with cranial sclerosis (OSCS); individuals with OSCS are not predisposed to tumor development. Expand
Localized mutations in the gene encoding the cytoskeletal protein filamin A cause diverse malformations in humans
The patterns of mutation, X-chromosome inactivation and phenotypic manifestations in the newly described mutations indicate that they have gain-of-function effects, implicating filamin A in signaling pathways that mediate organogenesis in multiple systems during embryonic development. Expand
Mutations of ephrin-B1 (EFNB1), a marker of tissue boundary formation, cause craniofrontonasal syndrome.
  • S. Twigg, R. Kan, +5 authors A. Wilkie
  • Biology, Medicine
  • Proceedings of the National Academy of Sciences…
  • 8 June 2004
It is proposed that in heterozygous females, patchwork loss of ephrin-B1 disturbs tissue boundary formation at the developing coronal suture, whereas in males deficient in ephin-B 1, an alternative mechanism maintains the normal boundary. Expand
Mutations in genes encoding the cadherin receptor-ligand pair DCHS1 and FAT4 disrupt cerebral cortical development
It is shown that mutations in genes encoding the receptor-ligand cadherin pair DCHS1 and FAT4 lead to a recessive syndrome in humans that includes periventricular neuronal heterotopia, and these findings implicate Dchs1 and Fat4 upstream of Yap as key regulators of mammalian neurogenesis. Expand
Mutations in the gene encoding filamin B disrupt vertebral segmentation, joint formation and skeletogenesis
It is found that filamin B is expressed in human growth plate chondrocytes and in the developing vertebral bodies in the mouse, indicating an unexpected role in vertebral segmentation, joint formation and endochondral ossification for this ubiquitously expressed cytoskeletal protein. Expand
Mutations in NOTCH2 cause Hajdu-Cheney syndrome, a disorder of severe and progressive bone loss
An exome-sequencing strategy is used and an allelic series of NOTCH2 mutations in Hajdu-Cheney syndrome are identified, an autosomal dominant multisystem disorder characterized by severe and progressive bone loss. Expand
Coffin–Siris Syndrome and the BAF Complex: Genotype–Phenotype Study in 63 Patients
The emerging phenotype–genotype correlation is that SMARCB1 patients have the most marked physical phenotype and severe cognitive and growth delay, and the variability in phenotype seems most marked in ARIDs1A and ARID1B patients. Expand
Craniosynostosis and multiple skeletal anomalies in humans and zebrafish result from a defect in the localized degradation of retinoic acid.
Excess exogenous retinoic acid (RA) has been well documented to have teratogenic effects in the limb and craniofacial skeleton. Malformations that have been observed in this context includeExpand
Identification and Successful Negotiation of a Metabolic Checkpoint in Direct Neuronal Reprogramming.
Co-expression of Bcl-2 and anti-oxidative treatments leads to an unprecedented improvement in glial-to-neuron conversion after traumatic brain injury in vivo, underscoring the relevance of these pathways in cellular reprograming irrespective of cell type in vitro and in vivo. Expand