Tissue-nonspecific alkaline phosphatase deficiency causes abnormal craniofacial bone development in the Alpl(-/-) mouse model of infantile hypophosphatasia.
暂无分享,去创建一个
J. Millán | N. Hatch | Jin Liu | H. K. Nam | Cassie Campbell | K. C. Gasque | C. Campbell | K. Gasque
[1] F. Jakob,et al. Unexpected high intrafamilial phenotypic variability observed in hypophosphatasia , 2014, European Journal of Human Genetics.
[2] J. Millán,et al. In Vivo Overexpression of Tissue‐Nonspecific Alkaline Phosphatase Increases Skeletal Mineralization and Affects the Phosphorylation Status of Osteopontin , 2013, Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research.
[3] M. McKee,et al. Tooth root dentin mineralization defects in a mouse model of hypophosphatasia , 2013, Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research.
[4] N. Hatch,et al. Further Analysis of the Crouzon Mouse: Effects of the FGFR2C342Y Mutation Are Cranial Bone–Dependent , 2013, Calcified Tissue International.
[5] R. Keating,et al. Age at Initial Consultation for Craniosynostosis: Comparison Across Different Patient Characteristics , 2013, The Journal of craniofacial surgery.
[6] J. Millán. The Role of Phosphatases in the Initiation of Skeletal Mineralization , 2012, Calcified Tissue International.
[7] J. Millán,et al. Enzyme replacement prevents enamel defects in hypophosphatasia mice , 2012, Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research.
[8] Nick Bishop,et al. Enzyme-replacement therapy in life-threatening hypophosphatasia. , 2012, The New England journal of medicine.
[9] H. Gjørup,et al. Craniofacial morphology in patients with hypophosphatemic rickets: A cephalometric study focusing on differences between bone of cartilaginous and intramembranous origin , 2011, American journal of medical genetics. Part A.
[10] N. Hatch,et al. Ectonucleotide Pyrophosphatase/Phosphodiesterase-1 (ENPP1) Protein Regulates Osteoblast Differentiation , 2011, The Journal of Biological Chemistry.
[11] J. Millán,et al. Dose response of bone-targeted enzyme replacement for murine hypophosphatasia. , 2011, Bone.
[12] R. Keating,et al. Treatment for delayed presentation of sagittal synostosis: challenges pertaining to occult intracranial hypertension. , 2011, Journal of neurosurgery. Pediatrics.
[13] Jeffrey J. Gray,et al. Enzyme Replacement Therapy Prevents Dental Defects in a Model of Hypophosphatasia , 2011, Journal of dental research.
[14] H. Meltzer,et al. Craniofacial reconstruction as a treatment for elevated intracranial pressure , 2011, Child's Nervous System.
[15] H. Jo,et al. Inorganic Phosphate Induces Mammalian Growth Plate Chondrocyte Apoptosis in a Mitochondrial Pathway Involving Nitric Oxide and JNK MAP Kinase , 2011, Calcified Tissue International.
[16] Ralph Müller,et al. Guidelines for assessment of bone microstructure in rodents using micro–computed tomography , 2010, Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research.
[17] M. Demay,et al. Phosphate-induced Apoptosis of Hypertrophic Chondrocytes Is Associated with a Decrease in Mitochondrial Membrane Potential and Is Dependent upon Erk1/2 Phosphorylation* , 2010, The Journal of Biological Chemistry.
[18] M. Whyte. Physiological role of alkaline phosphatase explored in hypophosphatasia , 2010, Annals of the New York Academy of Sciences.
[19] P. Ciancaglini,et al. Kinetic Analysis of Substrate Utilization by Native and TNAP-, NPP1-, or PHOSPHO1-Deficient Matrix Vesicles , 2009, Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research.
[20] S. Goldstein,et al. Beam hardening artifacts in micro-computed tomography scanning can be reduced by X-ray beam filtration and the resulting images can be used to accurately measure BMD. , 2009, Bone.
[21] D. David,et al. Intellectual Outcomes Following Protocol Management in Crouzon, Pfeiffer, and Muenke Syndromes , 2009, The Journal of craniofacial surgery.
[22] David W Holdsworth,et al. In vivo micro-CT analysis of bone remodeling in a rat calvarial defect model , 2009, Physics in medicine and biology.
[23] S. Gattenlöhner,et al. Neurosurgical aspects of childhood hypophosphatasia , 2009, Child's Nervous System.
[24] S. Rasmussen,et al. Priorities for public health research on craniosynostosis: Summary and recommendations from a Centers for Disease Control and Prevention‐sponsored meeting , 2008, American journal of medical genetics. Part A.
[25] R. Terkeltaub,et al. Enzyme Replacement Therapy for Murine Hypophosphatasia , 2007, Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research.
[26] D. Rice. Developmental anatomy of craniofacial sutures. , 2008, Frontiers of oral biology.
[27] Hristo N Nikolov,et al. A quality assurance phantom for the performance evaluation of volumetric micro-CT systems , 2007, Physics in medicine and biology.
[28] B. Bain,et al. Bone marrow fibrosis: pathophysiology and clinical significance of increased bone marrow stromal fibres , 2007, British journal of haematology.
[29] E. Mornet. Hypophosphatasia , 2007, Orphanet journal of rare diseases.
[30] M. McKee,et al. Pyrophosphate Inhibits Mineralization of Osteoblast Cultures by Binding to Mineral, Up-regulating Osteopontin, and Inhibiting Alkaline Phosphatase Activity* , 2007, Journal of Biological Chemistry.
[31] D. Chitayat,et al. Sudden infant death in a patient with FGFR3 P250R mutation , 2006, American journal of medical genetics. Part A.
[32] Daniel Govier,et al. The Craniofacial Phenotype of the Crouzon Mouse: Analysis of a Model for Syndromic Craniosynostosis Using Three-Dimensional MicroCT , 2006, The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association.
[33] R. Terkeltaub,et al. Elevated Skeletal Osteopontin Levels Contribute to the Hypophosphatasia Phenotype in Akp2−/− Mice , 2006, Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research.
[34] J. Millán. Mammalian Alkaline Phosphatases: From Biology to Applications in Medicine and Biotechnology , 2006 .
[35] Gillian M Morriss-Kay,et al. Growth of the normal skull vault and its alteration in craniosynostosis: insights from human genetics and experimental studies , 2005, Journal of anatomy.
[36] M. Demay,et al. Hypophosphatemia leads to rickets by impairing caspase-mediated apoptosis of hypertrophic chondrocytes. , 2005, Proceedings of the National Academy of Sciences of the United States of America.
[37] R. Terkeltaub,et al. Sustained osteomalacia of long bones despite major improvement in other hypophosphatasia-related mineral deficits in tissue nonspecific alkaline phosphatase/nucleotide pyrophosphatase phosphodiesterase 1 double-deficient mice. , 2005, The American journal of pathology.
[38] A. Weiss,et al. Progressive Postnatal Craniosynostosis and Increased Intracranial Pressure , 2004, Plastic and reconstructive surgery.
[39] R. Terkeltaub,et al. Concerted regulation of inorganic pyrophosphate and osteopontin by akp2, enpp1, and ank: an integrated model of the pathogenesis of mineralization disorders. , 2004, The American journal of pathology.
[40] C. Scriver,et al. The Metabolic and Molecular Bases of Inherited Disease, 8th Edition 2001 , 2001, Journal of Inherited Metabolic Disease.
[41] R. Terkeltaub,et al. Tissue-nonspecific alkaline phosphatase and plasma cell membrane glycoprotein-1 are central antagonistic regulators of bone mineralization , 2002, Proceedings of the National Academy of Sciences of the United States of America.
[42] Eric Arnaud,et al. Management of craniosynostoses , 2000, Child's Nervous System.
[43] J. Millán,et al. Functional Characterization of Osteoblasts and Osteoclasts from Alkaline Phosphatase Knockout Mice , 2000, Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research.
[44] R. Terkeltaub,et al. Osteoblast tissue-nonspecific alkaline phosphatase antagonizes and regulates PC-1. , 2000, American journal of physiology. Regulatory, integrative and comparative physiology.
[45] E. Moran,et al. Phosphate is a specific signal for induction of osteopontin gene expression. , 2000, Proceedings of the National Academy of Sciences of the United States of America.
[46] E. Mornet. Hypophosphatasia: The mutations in the tissue‐nonspecific alkaline phosphatase gene , 2000, Human mutation.
[47] J. Millán,et al. Alkaline Phosphatase Knock‐Out Mice Recapitulate the Metabolic and Skeletal Defects of Infantile Hypophosphatasia , 1999, Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research.
[48] E. Jabs,et al. Ocular anterior chamber dysgenesis in craniosynostosis syndromes with a fibroblast growth factor receptor 2 mutation. , 1999, American journal of medical genetics.
[49] V. Everts,et al. Root Development in Mice Lacking Functional Tissue Non-specific Alkaline Phosphatase Gene: Inhibition of Acellular Cementum Formation , 1999, Journal of dental research.
[50] R. Baron,et al. Normalization of mineral ion homeostasis by dietary means prevents hyperparathyroidism, rickets, and osteomalacia, but not alopecia in vitamin D receptor-ablated mice. , 1998, Endocrinology.
[51] R. Baron,et al. Targeted ablation of the vitamin D receptor: an animal model of vitamin D-dependent rickets type II with alopecia. , 1997, Proceedings of the National Academy of Sciences of the United States of America.
[52] L. Heier,et al. The role of the cranial base in facial growth: experimental craniofacial synostosis in the rabbit. , 1997, Plastic and reconstructive surgery.
[53] J. Millán,et al. Inactivation of two mouse alkaline phosphatase genes and establishment of a model of infantile hypophosphatasia , 1997, Developmental dynamics : an official publication of the American Association of Anatomists.
[54] T. Guilarte,et al. Mice lacking tissue non–specific alkaline phosphatase die from seizures due to defective metabolism of vitamin B–6 , 1995, Nature Genetics.
[55] M. Cohen,et al. Sutural biology and the correlates of craniosynostosis. , 1993, American journal of medical genetics.
[56] S. Kreiborg,et al. Upper and lower airway compromise in the Apert syndrome. , 1992, American journal of medical genetics.
[57] M. Whyte,et al. Hypophosphatasia and the extracellular metabolism of inorganic pyrophosphate: clinical and laboratory aspects. , 1991, Critical reviews in clinical laboratory sciences.
[58] D. Rimoin,et al. Histologic and ultrastructural studies on the mineralization process in hypophosphatasia. , 1985, American journal of medical genetics.
[59] D L Parker,et al. Optimal short scan convolution reconstruction for fanbeam CT. , 1982, Medical physics.
[60] D. Parker. Optimal short scan convolution reconstruction for fan beam CT , 1982 .
[61] M. Whyte,et al. Adult hypophosphatasia: generalized deficiency of alkaline phosphatase activity demonstrated with cultured skin fibroblasts. , 1982, Transactions of the Association of American Physicians.
[62] S. Kreiborg. Craniofacial growth in plagiocephaly and Crouzon syndrome. , 1981, Scandinavian journal of plastic and reconstructive surgery.
[63] M M Cohen,et al. Perspectives on Craniosynostosis: Sutural Biology, Some Well-known Syndromes, and Some Unusual Syndromes , 1980, The Western journal of medicine.
[64] A. Sokol. The pathogenesis of premature craniosynostosis in acrocephalosyndactyly (Apert's syndrome) , 1978 .
[65] R. Stewart,et al. THE PATHOGENESIS OF PREMATURE CRANIOSYNOSTOSIS IN ACROCEPHALOSYNDACTYLY (APERT'S SYNDROME) A Reconsideration , 1977, Plastic and reconstructive surgery.
[66] F. Glorieux,et al. Hypophosphatemia: mouse model for human familial hypophosphatemic (vitamin D-resistant) rickets. , 1976, Proceedings of the National Academy of Sciences of the United States of America.
[67] B. Reilly,et al. CRANIOSYNOSTOSIS IN THE RACHITIC SPECTRUM. , 1964, The Journal of pediatrics.