A cluster of autosomal recessive spondylocostal dysostosis caused by three newly identified DLL3 mutations segregating in a small village

Keywords

Genetics, Biology, Haplotype, Exon, Nonsense mutation

References

• A clock-work somite.Margit Kamptner — 2000
• Defects in somite formation in lunatic fringe-deficient miceNian Zhang, Thomas Gridley — 1998
• The mouse pudgy mutation disrupts Delta homologue Dll3 and initiation of early somite boundariesKenro Kusumi, Eileen Sun, Anne W. Kerrebrock — 1998
• Mutations in the human Delta homologue, DLL3, cause axial skeletal defects in spondylocostal dysostosisMichael Bulman, Kenro Kusumi, Timothy M. Frayling — 2000
• Pseudodominant inheritance of spondylocostal dysostosis type 1 caused by two familial delta‐like 3 mutationsNV Whittock, Sian Ellard, Jaine Duncan — 2004
• Specification and segmentation of the paraxial mesodermPatrickP.L. Tam, Paul A. Trainor — 1994
• A gene for autosomal recessive spondylocostal dysostosis maps to 19q13.1-q13.3.Peter D. Turnpenny, Michael Bulman, Timothy M. Frayling — 1999
• Multiple vertebral segmentation defects: analysis of 26 new patients and review of the literature.Geert Mortier, Ralph S. Lachman, Maureen Bocian — 1996
• Notch1 is required for the coordinate segmentation of somites.Ronald A. Conlon, Andrew G. Reaume, Janet Rossant — 1995
• Information analysis of human splice site mutationsPeter K. Rogan, Brian M. Faux, Thomas D. Schneider — 1998
• A family of mammalian Fringe genes implicated in boundary determination and the Notch pathway.Stuart H. Johnston, Cordelia Rauskolb, Richa Wilson — 1997
• Axial skeletal defects caused by mutation in the spondylocostal dysplasia/pudgy gene Dll3 are associated with disruption of the segmentation clock within the presomitic mesoderm.Sally L. Dunwoodie, Melanie Clements, Duncan B. Sparrow — 2002
• When body segmentation goes wrongOlivier Pourquié, Kenro Kusumi — 2001
• Mechanisms of vertebrate segmentation.Roger J. Keynes, Claudio D. Stern — 1988
• [Costovertebral dysplasia. A receptor defect of sclerotome development?].Markus Gassner — 1982

Cited by

• Role of Delta-like-3 in mammalian somitogenesis and vertebral column formation.Gavin Chapman, Sally L. Dunwoodie — 2008
• Defective somitogenesis and abnormal vertebral segmentation in man.Peter D. Turnpenny — 2008
• Investigating the regulation of the Notch pathway ligand Delta-like 1 in the vertebrate segmentation clockRobert A. Bone — 2012
• Spondylocostal Dysostosis, Autosomal RecessivePeter D. Turnpenny, Melissa Sloman, Sally L. Dunwoodie — 2013
• Genetic and clinical profiles of spondylocostal dysostosis patients in TaiwanChung‐Hsing Wang, Wei‐De Lin, DA-TIAN BAU — 2011
• Mutation of the fucose-specific beta1,3 N-acetylglucosaminyltransferase LFNG results in abnormal formation of the spine.Sally L. Dunwoodie — 2009
• Mutation of the LUNATIC FRINGE gene in humans causes spondylocostal dysostosis with a severe vertebral phenotype.Duncan B. Sparrow, Gavin Chapman, Merridee A. Wouters — 2006
• Pilot assessment of a radiologic classification system for segmentation defects of the vertebraeAmaka C Offiah, Benjamin A. Alman, Alberto S. Cornier — 2010
• Tomographic assessment of the spine in children with spondylocostal dysotosis syndromeAli Al Kaissi, Klaus Klaushofer, Franz Grill — 2010
• High Incidence of Deafness from Three Frequent Connexin 26 Mutations in an Isolated CommunityJoël Zlotogora, Minerva Carasquillo, Saleh Barges — 2006
• Disruption of the somitic molecular clock causes abnormal vertebral segmentation.Duncan B. Sparrow, Gavin Chapman, Peter D. Turnpenny — 2007
• Multiple mutations responsible for frequent genetic diseases in isolated populationsJoël Zlotogora — 2007
• Diffuse Skull Base/Cervical Fusion Syndromes in Two Siblings With Spondylocostal Dysostosis Syndrome: Analysis via Three Dimensional Computed Tomography ScanningAli Al Kaissi, Farid Ben Chehida, Maher Ben Ghachem — 2008
• Molecular diagnosis of vertebral segmentation disorders in humans.Philip F. Giampietro, Sally L. Dunwoodie, Kenro Kusumi — 2008
• Notch signaling: simplicity in design, versatility in functionEmma Andersson, Rickard Sandberg, Urban Lendahl — 2011
• Abnormal vertebral segmentation and the notch signaling pathway in manPeter D. Turnpenny, Ben Alman, Alberto S. Cornier — 2007
• The vertebrate segmentation clock and its role in skeletal birth defects.Emily T. Shifley, Susan E. Cole — 2007
• Mutations in the MESP2 gene cause spondylothoracic dysostosis/Jarcho-Levin syndrome.Alberto S. Cornier, Karen Staehling‐Hampton, Kym Delventhal — 2008
• Mutated MESP2 causes spondylocostal dysostosis in humans.Neil V. Whittock, Duncan B. Sparrow, Merridee A. Wouters — 2004
• Interpretation of mRNA splicing mutations in genetic disease: review of the literature and guidelines for information-theoretical analysisNatasha Caminsky, Eliseos J. Mucaki, Peter K. Rogan — 2014

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