Prajna Udupa

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Publications (11)

• The emerging functions of intraflagellar transport 52 in ciliary transport and ciliopathies
  Traffic 2024 DOI: 10.1111/tra.12929
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• Implementation of Exome Sequencing to Identify Rare Genetic Diseases
  Methods in Molecular Biology 2024 DOI: 10.1007/978-1-0716-3461-5_5
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• Assessing <scp>type I</scp> collagen expression and quality in cellular models of osteogenesis imperfecta
  Clinical Genetics 2023 DOI: 10.1111/cge.14463
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• Clinical, genetic and structural delineation of RPL13-related spondyloepimetaphyseal dysplasia suggest extra-ribosomal functions of eL13
  npj Genomic Medicine 2023 DOI: 10.1038/s41525-023-00380-x
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• Deep intronic mutation in CRTAP results in unstable isoforms of the protein to induce type I collagen aggregation in a lethal type of osteogenesis imperfecta type VII
  Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease 2023 DOI: 10.1016/j.bbadis.2023.166741
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• Exome Sequencing in Monogenic Forms of Rickets
  Indian Journal of Pediatrics 2023 DOI: 10.1007/s12098-022-04393-9
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• Mutant MESD links cellular stress to type I collagen aggregation in osteogenesis imperfecta type XX
  Matrix Biology 2023 DOI: 10.1016/j.matbio.2022.12.001
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• Genome sequencing identifies a large non-coding region deletion of SNX10 causing autosomal recessive osteopetrosis
  Journal of Human Genetics 2022 DOI: 10.1038/s10038-022-01104-2
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• Acyl-CoA binding protein regulates nutrient-dependent autophagy
  Metabolism 2022 DOI: 10.1016/j.metabol.2022.155338
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• Characterization of primary cilia features reveal cell-type specific variability in in vitro models of osteogenic and chondrogenic differentiation
  PeerJ 2020 DOI: 10.7717/peerj.9799
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