Human Osteopetrosis and Other Sclerosing Disorders: Recent Genetic Developments
暂无分享,去创建一个
[1] A. Schulz,et al. Loss of the ClC-7 Chloride Channel Leads to Osteopetrosis in Mice and Man , 2001, Cell.
[2] R. Gershoni-baruch,et al. Mutations in the gene encoding the latency-associated peptide of TGF-β1 cause Camurati-Engelmann disease , 2000, Nature Genetics.
[3] W. Hul,et al. Further Evidence for Genetic Heterogeneity Within Type II Autosomal Dominant Osteopetrosis , 2000, Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research.
[4] Naoyuki Taniguchi,et al. Domain-specific mutations in TGFB1 result in Camurati-Engelmann disease , 2000, Nature Genetics.
[5] A. Schulz,et al. Mutations in the a3 subunit of the vacuolar H(+)-ATPase cause infantile malignant osteopetrosis. , 2000, Human molecular genetics.
[6] L. Notarangelo,et al. Defects in TCIRG1 subunit of the vacuolar proton pump are responsible for a subset of human autosomal recessive osteopetrosis , 2000, Nature Genetics.
[7] S. Blanton,et al. Confirmation of the mapping of the Camurati-Englemann locus to 19q13. 2 and refinement to a 3.2-cM region. , 2000, Genomics.
[8] O. Jaillon,et al. The gene encoding the mouse homologue of the human osteoclast-specific 116-kDa V-ATPase subunit bears a deletion in osteosclerotic (oc/oc) mutants. , 2000, Bone.
[9] M. Horton,et al. Study of the Nonresorptive Phenotype of Osteoclast‐like Cells from Patients with Malignant Osteopetrosis: A New Approach to Investigating Pathogenesis , 2000, Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research.
[10] J. Laredo,et al. Type II autosomal dominant osteopetrosis (Albers-Schönberg disease): clinical and radiological manifestations in 42 patients. , 2000, Bone.
[11] Y. Fukushima,et al. Genetic mapping of the Camurati-Engelmann disease locus to chromosome 19q13.1-q13.3. , 2000, American journal of human genetics.
[12] C. Bosman,et al. Mechanisms of Osteoclast Dysfunction in Human Osteopetrosis: Abnormal Osteoclastogenesis and Lack of Osteoclast‐Specific Adhesion Structures , 1999, Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research.
[13] Yuqiong Liang,et al. Atp6i-deficient mice exhibit severe osteopetrosis due to loss of osteoclast-mediated extracellular acidification , 1999, Nature Genetics.
[14] B. Gelb,et al. Determination of Bone Markers in Pycnodysostosis: Effects of Cathepsin K Deficiency on Bone Matrix Degradation , 1999, Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research.
[15] Joie Davis,et al. Mutations of CTSK Result in Pycnodysostosis via a Reduction in Cathepsin K Protein , 1999, Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research.
[16] T. Foroud,et al. Locus heterogeneity of autosomal dominant osteopetrosis (ADO). , 1999, The Journal of clinical endocrinology and metabolism.
[17] J. Vacher,et al. Genetic localization and transmission of the mouse osteopetrotic grey-lethal mutation , 1999, Mammalian Genome.
[18] H. Weinstein,et al. Characterization of novel cathepsin K mutations in the pro and mature polypeptide regions causing pycnodysostosis. , 1999, The Journal of clinical investigation.
[19] Daniel L. Koller,et al. Linkage of a QTL Contributing to Normal Variation in Bone Mineral Density to Chromosome 11q12–13 , 1998, Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research.
[20] V. Sheffield,et al. Human autosomal recessive osteopetrosis maps to 11q13, a position predicted by comparative mapping of the murine osteosclerosis (oc) mutation. , 1998, Human molecular genetics.
[21] R. Shnier,et al. Camurati‐Engelmann Disease: Two Case Reports Describing Metadiaphyseal Dysplasia Associated with Cerebellar Ataxia , 1998, Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research.
[22] J. Caamaño,et al. Osteopetrosis in mice lacking NF-κB1 and NF-κB2 , 1997, Nature Medicine.
[23] W. Hul,et al. Localization of a gene for autosomal dominant osteopetrosis (Albers-Schönberg disease) to chromosome 1p21. , 1997, American journal of human genetics.
[24] Mark L. Johnson,et al. Linkage of a gene causing high bone mass to human chromosome 11 (11q12-13) , 1997, American journal of human genetics.
[25] G Shimamoto,et al. Osteoprotegerin: A Novel Secreted Protein Involved in the Regulation of Bone Density , 1997, Cell.
[26] S. Mckercher,et al. Osteopetrosis in mice lacking haematopoietic transcription factor PU.1 , 1997, Nature.
[27] E. Remmers,et al. Localization of the gene responsible for the op (osteopetrotic) defect in rats on chromosome 10 , 1996, Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research.
[28] L. Peltonen,et al. Osteoporosis-pseudoglioma syndrome, a disorder affecting skeletal strength and vision, is assigned to chromosome region 11q12-13. , 1996, American journal of human genetics.
[29] C. Debouck,et al. Cathepsin K, but Not Cathepsins B, L, or S, Is Abundantly Expressed in Human Osteoclasts (*) , 1996, The Journal of Biological Chemistry.
[30] Wei Chen,et al. Molecular cloning and characterization of a putative novel human osteoclast-specific 116-kDa vacuolar proton pump subunit. , 1996, Biochemical and biophysical research communications.
[31] R. Rodriguiz,et al. Long-term treatment of osteopetrosis with recombinant human interferon gamma. , 1995, The New England journal of medicine.
[32] W. Friedrich,et al. Bone marrow transplantation for autosomal recessive osteopetrosis. A report from the Working Party on Inborn Errors of the European Bone Marrow Transplantation Group. , 1994, The Journal of pediatrics.
[33] E. Wagner,et al. c-Fos: a key regulator of osteoclast-macrophage lineage determination and bone remodeling. , 1994, Science.
[34] A. Fischer,et al. Autosomal recessive osteopetrosis: variability of findings at diagnosis and during the natural course. , 1994, Pediatrics.
[35] N. Jenkins,et al. Mutations at the mouse microphthalmia locus are associated with defects in a gene encoding a novel basic-helix-loop-helix-zipper protein , 1993, Cell.
[36] D. B. Evans,et al. Identification of two subunit A isoforms of the vacuolar H(+)-ATPase in human osteoclastoma. , 1993, The Journal of biological chemistry.
[37] T. Yoneda,et al. Requirement of pp60c-src expression for osteoclasts to form ruffled borders and resorb bone in mice. , 1992, The Journal of clinical investigation.
[38] A. Fischer,et al. Mineral metabolism in infants with malignant osteopetrosis: Heterogeneity in plasma 1,25‐dihydroxyvitamin D levels and bone histology , 1992, Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research.
[39] W. Wiktor-Jedrzejczak,et al. Total absence of colony-stimulating factor 1 in the macrophage-deficient osteopetrotic (op/op) mouse. , 1990, Proceedings of the National Academy of Sciences of the United States of America.
[40] S. Marks,et al. Osteoclast biology: lessons from mammalian mutations. , 1989, American journal of medical genetics.
[41] S. Teitelbaum,et al. Osteoclastic bone resorption by a polarized vacuolar proton pump. , 1989, Science.
[42] J. Bollerslev. Autosomal dominant osteopetrosis: bone metabolism and epidemiological, clinical, and hormonal aspects. , 1989, Endocrine reviews.
[43] P. Lane,et al. Osteosclerosis, a recessive skeletal mutation on chromosome 19 in the mouse. , 1985, The Journal of heredity.
[44] D. Hewett‐Emmett,et al. Carbonic anhydrase II deficiency identified as the primary defect in the autosomal recessive syndrome of osteopetrosis with renal tubular acidosis and cerebral calcification. , 1983, Proceedings of the National Academy of Sciences of the United States of America.