Achondroplasia: Development, pathogenesis, and therapy

DM Ornitz, L Legeai‐Mallet - Developmental dynamics, 2017 - Wiley Online Library
Autosomal dominant mutations in fibroblast growth factor receptor 3 (FGFR3) cause
achondroplasia (Ach), the most common form of dwarfism in humans, and related …

FGF signaling pathways in endochondral and intramembranous bone development and human genetic disease

DM Ornitz, PJ Marie - Genes & development, 2002 - genesdev.cshlp.org
Over the last decade the identification of mutations in the receptors for fibroblast growth
factors (FGFs) has defined essential roles for FGF signaling in both endochondral and …

[图书][B] Pediatric neuroimaging

AJ Barkovich - 2005 - books.google.com
The thoroughly updated Fourth Edition of this acclaimed reference describes and illustrates
the full range of pediatric disorders diagnosable by modern neuroimaging. This edition …

Tissue origins and interactions in the mammalian skull vault

X Jiang, S Iseki, RE Maxson, HM Sucov… - Developmental …, 2002 - Elsevier
During mammalian evolution, expansion of the cerebral hemispheres was accompanied by
expansion of the frontal and parietal bones of the skull vault and deployment of the coronal …

Structural basis for fibroblast growth factor receptor activation

M Mohammadi, SK Olsen, OA Ibrahimi - Cytokine & growth factor reviews, 2005 - Elsevier
FGF signaling plays a ubiquitous role in human biology as a regulator of embryonic
development, homeostasis and regenerative processes. In addition, aberrant FGF signaling …

Holt-Oram syndrome is caused by mutations in TBX5, a member of the Brachyury (T) gene family

Q Yi Li, RA Newbury-Ecob, JA Terrett, DI Wilson… - Nature …, 1997 - nature.com
Holt-Oram syndrome is a developmental disorder affecting the heart and upper limb, the
gene for which was mapped to chromosome 12 two years ago. We have now identified a …

Kinase mutations in human disease: interpreting genotype–phenotype relationships

P Lahiry, A Torkamani, NJ Schork… - Nature Reviews …, 2010 - nature.com
Protein kinases are one of the largest families of evolutionarily related proteins and
comprise one of the most abundant gene families in humans. Here we survey kinase gene …

Growth of the normal skull vault and its alteration in craniosynostosis: insights from human genetics and experimental studies

GM Morriss‐Kay, AOM Wilkie - Journal of anatomy, 2005 - Wiley Online Library
The mammalian skull vault is constructed principally from five bones: the paired frontals and
parietals, and the unpaired interparietal. These bones abut at sutures, where most growth of …

Craniosynostosis: genes and mechanisms

AOM Wilkie - Human molecular genetics, 1997 - academic.oup.com
Enlargement of the skull vault occurs by appositional growth at the fibrous joints between the
bones, termed cranial sutures. Relatively little is known about the developmental biology of …

The new bone biology: pathologic, molecular, and clinical correlates

MM Cohen Jr - American journal of medical genetics part A, 2006 - Wiley Online Library
Bone and cartilage and their disorders are addressed under the following headings:
functions of bone; normal and abnormal bone remodeling; osteopetrosis and osteoporosis; …