Periodontal Ehlers-Danlos Syndrome Is Caused by Mutations in C1R and C1S , which Encode Subcomponents C1r and C1s of Complement
2016 · The American Journal of Human Genetics · 116 citations
https://doi.org/10.1016/j.ajhg.2016.08.019
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Cecilia Giunta
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Cecilia Giunta is an academic researcher from University of Zurich. The author has contributed to research in topics: Connective tissue disorders research & Dermatological and Skeletal Disorders & Bone and Dental Protein Studies. The author has an h-index of 39, co-authored 101 publications.
ORCID: 0000-0002-9313-8257Papers by this author
worksPhenotypic variability of the kyphoscoliotic type of Ehlers-Danlos syndrome (EDS VIA): clinical, molecular and biochemical delineation
2011 · Orphanet Journal of Rare Diseases · 105 citations
https://doi.org/10.1186/1750-1172-6-46
ZNF469 frequently mutated in the brittle cornea syndrome (BCS) is a single exon gene possibly regulating the expression of several extracellular matrix components
2013 · Molecular Genetics and Metabolism · 85 citations
https://doi.org/10.1016/j.ymgme.2013.04.014
Molecular Consequences of the SERPINH1/HSP47 Mutation in the Dachshund Natural Model of Osteogenesis Imperfecta
2015 · Journal of Biological Chemistry · 47 citations
https://doi.org/10.1074/jbc.m115.661025
Sestrin2 drives ER-phagy in response to protein misfolding
2024 · Developmental Cell · 28 citations
https://doi.org/10.1016/j.devcel.2024.07.004
Insight into the Pathology of a COL1A1 Signal Peptide Heterozygous Mutation Leading to Severe Osteogenesis Imperfecta
2017 · Calcified Tissue International · 16 citations
https://doi.org/10.1007/s00223-017-0359-z
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