Generation of the first autosomal dominant osteopetrosis type II (ADO2) disease models.

@article{Alam2014GenerationOT,
  title={Generation of the first autosomal dominant osteopetrosis type II (ADO2) disease models.},
  author={Imranul M Alam and Amie K. Gray and Kang Hyun Chu and Shoji Ichikawa and Khalid Sharief Mohammad and Marta Capannolo and Mattia Capulli and Antonio Maurizi and Maurizio Muraca and Alessandro Teti and Michael J. Econs and Andrea Del Fattore},
  journal={Bone},
  year={2014},
  volume={59},
  pages={
          66-75
        }
}
Autosomal dominant osteopetrosis type II (ADO2) is a heritable osteosclerotic disorder dependent on osteoclast impairment. In most patients it results from heterozygous missense mutations in the chloride channel 7 (CLCN7) gene, encoding for a 2Cl(-)/1H(+) antiporter. By a knock-in strategy inserting a missense mutation in the Clcn7 gene, our two research groups independently generated mouse models of ADO2 on different genetic backgrounds carrying the homolog of the most frequent heterozygous… CONTINUE READING
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Standardized nomenclature, symbols, and units for bone Alam et al. Page 10 Bone

  • DW Dempster, JE Compston, +7 authors AM. Parfitt
  • Author manuscript; available in PMC February 01
  • 2013

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