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Mutations in the gene encoding PDGF-B cause brain calcifications in humans and mice.
Keller A, Westenberger A, Sobrido MJ, García-Murias M, Domingo A, Sears RL, Lemos RR, Ordoñez-Ugalde A, Nicolas G, da Cunha JE, Rushing EJ, Hugelshofer M, Wurnig MC, Kaech A, Reimann R, Lohmann K, Dobričić V, Carracedo A, Petrović I, Miyasaki JM, Abakumova I, Mäe MA, Raschperger E, Zatz M, Zschiedrich K, Klepper J, Spiteri E, Prieto JM, Navas I, Preuss M, Dering C, Janković M, Paucar M, Svenningsson P, Saliminejad K, Khorshid HR, Novaković I, Aguzzi A, Boss A, Le Ber I, Defer G, Hannequin D, Kostić VS, Campion D, Geschwind DH, Coppola G, Betsholtz C, Klein C, Oliveira JR. Keller A, et al. Among authors: kaech a. Nat Genet. 2013 Sep;45(9):1077-82. doi: 10.1038/ng.2723. Epub 2013 Aug 4. Nat Genet. 2013. PMID: 23913003
Patched regulates lipid homeostasis by controlling cellular cholesterol levels.
Cadena Del Castillo CE, Hannich JT, Kaech A, Chiyoda H, Brewer J, Fukuyama M, Færgeman NJ, Riezman H, Spang A. Cadena Del Castillo CE, et al. Among authors: kaech a. Nat Commun. 2021 Aug 12;12(1):4898. doi: 10.1038/s41467-021-24995-9. Nat Commun. 2021. PMID: 34385431 Free PMC article.
Picture of the month. Uncombable hair (pili trianguli et canaliculi).
Navarini AA, Kaufmann F, Kaech A, Trüeb RM, Weibel L. Navarini AA, et al. Among authors: kaech a. Arch Pediatr Adolesc Med. 2010 Dec;164(12):1165-6. doi: 10.1001/archpediatrics.2010.228-a. Arch Pediatr Adolesc Med. 2010. PMID: 21135347 No abstract available.
MINA-1 and WAGO-4 are part of regulatory network coordinating germ cell death and RNAi in C. elegans.
Sendoel A, Subasic D, Ducoli L, Keller M, Michel E, Kohler I, Singh KD, Zheng X, Brümmer A, Imig J, Kishore S, Wu Y, Kanitz A, Kaech A, Mittal N, Matia-González AM, Gerber AP, Zavolan M, Aebersold R, Hall J, Allain FH, Hengartner MO. Sendoel A, et al. Among authors: kaech a. Cell Death Differ. 2019 Oct;26(10):2157-2178. doi: 10.1038/s41418-019-0291-z. Epub 2019 Feb 6. Cell Death Differ. 2019. PMID: 30728462 Free PMC article.
61 results