Plectin Mutations in Progressive Familial Intrahepatic Cholestasis
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DOI: 10.1002/hep.30841
Abstract: Neonates and infants are susceptible to cholestatic liver diseases. At least six genes are causative for progressive familial intrahepatic cholestasis (PFIC), and more genetic defects are known to cause infant cholestasis.(1) Approximately one-third of PFIC… read more here.
Keywords: familial intrahepatic; plec; progressive familial; intrahepatic cholestasis ... See more keywords
Mutation update: The spectra of PLEC sequence variants and related plectinopathies
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DOI: 10.1002/humu.24434
Abstract: Plectin, encoded by PLEC, is a cytoskeletal linker of intermediate filaments expressed in many cell types. Plectin consists of three main domains that determine its functionality: the N‐terminal domain, the Rod domain, and the C‐terminal… read more here.
Keywords: plec; mutation update; variants related; ebs ... See more keywords
Identification of Proteins Associated with Ovarian Cancer Chemotherapy Resistance Using MALDI-MSI
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DOI: 10.3390/ijms26125893
Abstract: Ovarian cancer is the most lethal gynecological cancer. Up to 75% of cases are high-grade serous ovarian cancer (HGSOC) that have high chemosensitivity to first-line platinum-based therapies. However, 75% of patients will become chemoresistant following… read more here.
Keywords: cancer; resistance; plec; chemotherapy ... See more keywords