Homozygosity for CREB3L1 premature stop codon in first case of recessive osteogenesis imperfecta associated with OASIS-deficiency to survive infancy.

@article{Lindahl2018HomozygosityFC,
  title={Homozygosity for CREB3L1 premature stop codon in first case of recessive osteogenesis imperfecta associated with OASIS-deficiency to survive infancy.},
  author={Katarina Lindahl and Eva {\AA}str{\"o}m and Anca Dragomir and Sofie Symoens and Paul J. Coucke and Sune Larsson and Eleftherios P Paschalis and P Roschger and S. Gamsjaeger and Klaus Klaushofer and Nadja Fratzl-Zelman and Andreas Kindmark},
  journal={Bone},
  year={2018},
  volume={114},
  pages={
          268-277
        }
}
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Osteogenesis Imperfecta: Mechanisms and signaling pathways connecting classical and rare OI types.
TLDR
This review provides the latest updates on OI, encompassing both classical OI and rare forms, their mechanism and the signaling pathways involved in their pathophysiology, with a special emphasis on mutations in type I procollagen C-propeptide structure and processing.
Bone biology: insights from osteogenesis imperfecta and related rare fragility syndromes
TLDR
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Transcription factor old astrocyte specifically induced substance is a novel regulator of kidney fibrosis
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