CARLOS BACINO to Signal Transduction
This is a "connection" page, showing publications CARLOS BACINO has written about Signal Transduction.
Connection Strength
0.133
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UBR7 functions with UBR5 in the Notch signaling pathway and is involved in a neurodevelopmental syndrome with epilepsy, ptosis, and hypothyroidism. Am J Hum Genet. 2021 01 07; 108(1):134-147.
Score: 0.076
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TMEM161B regulates cerebral cortical gyration, Sonic Hedgehog signaling, and ciliary structure in the developing central nervous system. Proc Natl Acad Sci U S A. 2023 Jan 24; 120(4):e2209964120.
Score: 0.022
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Skin fibroblasts of patients with geleophysic dysplasia due to FBN1 mutations have lysosomal inclusions and losartan improves their microfibril deposition defect. Mol Genet Genomic Med. 2019 09; 7(9):e844.
Score: 0.017
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Mutations in ADAR1 cause Aicardi-Gouti?res syndrome associated with a type I interferon signature. Nat Genet. 2012 Nov; 44(11):1243-8.
Score: 0.011
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Mutations in the gene encoding filamin B disrupt vertebral segmentation, joint formation and skeletogenesis. Nat Genet. 2004 Apr; 36(4):405-10.
Score: 0.006