Destabilization of the IFT-B cilia core complex due to mutations in IFT81 causes a Spectrum of Short-Rib Polydactyly Syndrome
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D. Nickerson | M. Bamshad | D. Krakow | D. Cohn | Ivan Duran | S. P. Taylor | Wenjuan Zhang | Jorge H. Martin | K. Forlenza | R. Spiro | Daniel H. Cohn | Deborah A. Nickerson | Rhonda P. Spiro
[1] K. Lechtreck. IFT-Cargo Interactions and Protein Transport in Cilia. , 2015, Trends in biochemical sciences.
[2] Sheila Unger,et al. Nosology and classification of genetic skeletal disorders: 2015 revision , 2015, American journal of medical genetics. Part A.
[3] L. Hetterschijt,et al. KIAA0556 is a novel ciliary basal body component mutated in Joubert syndrome , 2015, Genome Biology.
[4] J. Mullikin,et al. Mutations in human homologue of chicken talpid3 gene (KIAA0586) cause a hybrid ciliopathy with overlapping features of Jeune and Joubert syndromes , 2015, Journal of Medical Genetics.
[5] N. Boddaert,et al. IFT81, encoding an IFT-B core protein, as a very rare cause of a ciliopathy phenotype , 2015, Journal of Medical Genetics.
[6] A. Munnich,et al. Mutations in KIAA0586 Cause Lethal Ciliopathies Ranging from a Hydrolethalus Phenotype to Short-Rib Polydactyly Syndrome. , 2015, American journal of human genetics.
[7] Jason M. Brown,et al. Assembly of IFT Trains at the Ciliary Base Depends on IFT74 , 2015, Current Biology.
[8] A. Plessis,et al. The role of ciliary trafficking in Hedgehog receptor signaling , 2015, Science Signaling.
[9] S. Nelson,et al. Mutations in DYNC2LI1 disrupt cilia function and cause short rib polydactyly syndrome , 2015, Nature Communications.
[10] A. Lassar,et al. A pathway to bone: signaling molecules and transcription factors involved in chondrocyte development and maturation , 2015, Development.
[11] W. Sale,et al. Kinesin-13 regulates the quantity and quality of tubulin inside cilia , 2015, Molecular biology of the cell.
[12] F. Alkuraya,et al. A founder CEP120 mutation in Jeune asphyxiating thoracic dystrophy expands the role of centriolar proteins in skeletal ciliopathies , 2014, Human molecular genetics.
[13] M. Schmidts. Clinical genetics and pathobiology of ciliary chondrodysplasias , 2014, Journal of Pediatric Genetics.
[14] Y. Rais,et al. The growth plate’s response to load is partially mediated by mechano-sensing via the chondrocytic primary cilium , 2014, Cellular and Molecular Life Sciences.
[15] Crystal structures of IFT70/52 and IFT52/46 provide insight into intraflagellar transport B core complex assembly , 2014, The Journal of cell biology.
[16] G. Jansen,et al. Regulation of Cilium Length and Intraflagellar Transport by the RCK-Kinases ICK and MOK in Renal Epithelial Cells , 2014, PloS one.
[17] B. Engel,et al. Getting tubulin to the tip of the cilium: One IFT train, many different tubulin cargo‐binding sites? , 2014, BioEssays : news and reviews in molecular, cellular and developmental biology.
[18] A. Munnich,et al. WDR34 mutations that cause short-rib polydactyly syndrome type III/severe asphyxiating thoracic dysplasia reveal a role for the NF-κB pathway in cilia. , 2013, American journal of human genetics.
[19] Steven J. M. Jones,et al. Defects in the IFT-B component IFT172 cause Jeune and Mainzer-Saldino syndromes in humans. , 2013, American journal of human genetics.
[20] J. Hou,et al. The Ihh signal is essential for regulating proliferation and hypertrophy of cultured chicken chondrocytes. , 2013, Comparative biochemistry and physiology. Part B, Biochemistry & molecular biology.
[21] M. Brown,et al. Short-rib polydactyly and Jeune syndromes are caused by mutations in WDR60. , 2013, American journal of human genetics.
[22] E. Nigg,et al. Molecular Basis of Tubulin Transport Within the Cilium by IFT74 and IFT81 , 2013, Science.
[23] R. Serra,et al. Ift88 regulates Hedgehog signaling, Sfrp5 expression, and β‐catenin activity in post‐natal growth plate , 2013, Journal of orthopaedic research : official publication of the Orthopaedic Research Society.
[24] Richard D Emes,et al. Exome sequencing identifies DYNC2H1 mutations as a common cause of asphyxiating thoracic dystrophy (Jeune syndrome) without major polydactyly, renal or retinal involvement , 2013, Journal of Medical Genetics.
[25] Jay N. Pieczynski,et al. Microtubule modifications and stability are altered by cilia perturbation and in cystic kidney disease , 2013, Cytoskeleton.
[26] Nicolas Chenouard,et al. Intraflagellar transport proteins cycle between the flagellum and its base , 2013, Journal of Cell Science.
[27] D. Cole,et al. Analysis of interactions between intraflagellar transport proteins. , 2013, Methods in enzymology.
[28] D. Robbins,et al. The Hedgehog Signal Transduction Network , 2012, Science Signaling.
[29] J. Briscoe,et al. Primary cilia and graded Sonic Hedgehog signaling , 2012, Wiley interdisciplinary reviews. Developmental biology.
[30] S. Christensen,et al. Regulating intraflagellar transport , 2012, Nature Cell Biology.
[31] V. Cormier-Daire,et al. Ciliary disorder of the skeleton , 2012, American journal of medical genetics. Part C, Seminars in medical genetics.
[32] K. Anderson,et al. The IFT-A complex regulates Shh signaling through cilia structure and membrane protein trafficking , 2012, The Journal of cell biology.
[33] A. Munnich,et al. Mainzer-Saldino syndrome is a ciliopathy caused by IFT140 mutations. , 2012, American journal of human genetics.
[34] J. Welter,et al. Primary cilia modulate Ihh signal transduction in response to hydrostatic loading of growth plate chondrocytes. , 2012, Bone.
[35] A. Hoischen,et al. Ciliopathies with skeletal anomalies and renal insufficiency due to mutations in the IFT-A gene WDR19. , 2011, American journal of human genetics.
[36] S. Angers,et al. Gli proteins in development and disease. , 2011, Annual review of cell and developmental biology.
[37] E. Lorentzen,et al. Biochemical Mapping of Interactions within the Intraflagellar Transport (IFT) B Core Complex , 2011, The Journal of Biological Chemistry.
[38] Martin A. M. Reijns,et al. Human and mouse mutations in WDR35 cause short-rib polydactyly syndromes due to abnormal ciliogenesis. , 2011, American journal of human genetics.
[39] Colin A. Johnson,et al. TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum , 2011, Nature Genetics.
[40] A. Ekici,et al. NEK1 mutations cause short-rib polydactyly syndrome type majewski. , 2011, American journal of human genetics.
[41] M. Goodman,et al. The major α-tubulin K40 acetyltransferase αTAT1 promotes rapid ciliogenesis and efficient mechanosensation , 2010, Proceedings of the National Academy of Sciences.
[42] M. S. Miller,et al. Direct Interactions of Intraflagellar Transport Complex B Proteins IFT88, IFT52, and IFT46* , 2010, The Journal of Biological Chemistry.
[43] J. Shah,et al. Identification of Signaling Pathways Regulating Primary Cilium Length and Flow-Mediated Adaptation , 2010, Current Biology.
[44] A. Munnich,et al. Mutation in IFT80 in a fetus with the phenotype of Verma-Naumoff provides molecular evidence for Jeune-Verma-Naumoff dysplasia spectrum , 2009, Journal of Medical Genetics.
[45] Johannes Vogel,et al. Quantifying Western blots: Pitfalls of densitometry , 2009, Electrophoresis.
[46] A. Munnich,et al. DYNC2H1 mutations cause asphyxiating thoracic dystrophy and short rib-polydactyly syndrome, type III. , 2009, American journal of human genetics.
[47] S. Nelson,et al. Ciliary abnormalities due to defects in the retrograde transport protein DYNC2H1 in short-rib polydactyly syndrome. , 2009, American journal of human genetics.
[48] Colin A. Johnson,et al. IFT80, which encodes a conserved intraflagellar transport protein, is mutated in Jeune asphyxiating thoracic dystrophy , 2007, Nature Genetics.
[49] Buer Song,et al. Conditional Kif3a ablation causes abnormal hedgehog signaling topography, growth plate dysfunction, and excessive bone and cartilage formation during mouse skeletogenesis , 2007, Development.
[50] Dawen Cai,et al. Microtubule Acetylation Promotes Kinesin-1 Binding and Transport , 2006, Current Biology.
[51] J. Rosenbaum,et al. Characterization of the Intraflagellar Transport Complex B Core , 2005, Journal of Biological Chemistry.
[52] J. Scholey. Faculty Opinions recommendation of Characterization of the intraflagellar transport complex B core: direct interaction of the IFT81 and IFT74/72 subunits. , 2005 .
[53] A. Cleton-Jansen,et al. Absence of IHH and retention of PTHrP signalling in enchondromas and central chondrosarcomas , 2005, The Journal of pathology.
[54] R. Cancedda,et al. Targeted Expression of SHH Affects Chondrocyte Differentiation, Growth Plate Organization, and Sox9 Expression , 2004, Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research.
[55] J. Goodship,et al. Mutations in two nonhomologous genes in a head-to-head configuration cause Ellis-van Creveld syndrome. , 2003, American journal of human genetics.
[56] E. Ginns,et al. A new gene, EVC2, is mutated in Ellis-van Creveld syndrome. , 2002, Molecular genetics and metabolism.
[57] A. McMahon,et al. Indian hedgehog couples chondrogenesis to osteogenesis in endochondral bone development. , 2001, The Journal of clinical investigation.
[58] I. Casteels,et al. Visual loss as the presenting sign of Jeune syndrome. , 2000, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.
[59] A. McMahon,et al. Indian hedgehog coordinates endochondral bone growth and morphogenesis via parathyroid hormone related-protein-dependent and -independent pathways. , 2000, Development.
[60] A. McMahon,et al. Indian hedgehog signaling regulates proliferation and differentiation of chondrocytes and is essential for bone formation. , 1999, Genes & development.
[61] J. Burn,et al. A female infant with features of Mohr and Majewski syndromes: variable expression, a genetic compound, or a distinct entity? , 1983, Journal of medical genetics.