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281,414 results
  • Genetic bases of craniosynostoses: an update. [Review]
    Neurochirurgie 2019Armand T, Schaefer E, … Rossi M
  • Craniosynostosis (CS) is defined as the premature fusion of cranial sutures, leading to an abnormal skull shape. The overall incidence is between 1:2,000 and 1:3,000 live births. Genetic causes are found in 20% of cases. CS can be isolated (non-syndromic CS/NSCS) or they can be part of multiple congenital abnormalities syndromes (syndromic CS/SCS). A few SCS, such as Crouzon, Pfeiffer, Apert and …
  • Identification of the sirohaem biosynthesis pathway in Staphylococcus aureus. [Journal Article]
    FEBS J 2019Videira MAM, Lobo SAL, … Saraiva LM
  • Sirohaem is a modified tetrapyrrole and a key prosthetic group of several enzymes involved in nitrogen and sulfur metabolisms. This work shows that Staphylococcus aureus produces sirohaem through a pathway formed by three independent enzymes. Of the two putative sirohaem synthases encoded in the S. aureus genome and annotated as cysG, one is herein shown to be a uroporphyrinogen III methyltransfe…
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