Angela Scala results 8
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Genotype–phenotype correlation in contactin-associated protein-like 2 (CNTNAP-2) developmental disorderNARA Subscribed
Contactin-associated protein-like 2 ( CNTNAP2 ) gene encodes for CASPR2, a presynaptic type 1 transmembrane protein, involved in cell–cell adhesion and synaptic interactions. Biallelic CNTNAP2 loss has been associated with “Pitt-Hopkins-like syndrome-1” (MIM#610042), while the pathogenic role of heterozygous variants remains controversial. We report 22 novel patients harboring mono- ( n = 2) and bi-allelic ( n = 20) CNTNAP2 va...
Exopolysaccharide (EPS) production represents an adaptive strategy developed by extremophiles to cope with environmental stresses. The EPS-producing Bacillus licheniformis B3-15, of shallow marine vent origin (Vulcano Island, Italy), was previously reported as tolerant to arsenate (AsV). In this study, we evaluated: (i) the increasing production of EPS by Bacillus licheniformis B3-15 in the novel SG17 medium; (ii) the arsenic...
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