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Chromosome 20p11.2 deletions cause congenital hyperinsulinism via the loss of FOXA2 or its regulatory elements.
Laver TW, Wakeling MN, Caswell RC, Bunce B, Yau D, Männistö JME, Houghton JAL, Hopkins JJ, Weedon MN, Saraff V, Kershaw M, Honey EM, Murphy N, Giri D, Nath S, Tangari Saredo A, Banerjee I, Hussain K, Owens NDL, Flanagan SE. Laver TW, et al. Among authors: owens ndl. Eur J Hum Genet. 2024 Apr 11. doi: 10.1038/s41431-024-01593-z. Online ahead of print. Eur J Hum Genet. 2024. PMID: 38605124
Author Correction: Central role for PICALM in amyloid-β blood-brain barrier transcytosis and clearance.
Zhao Z, Sagare AP, Ma Q, Halliday MR, Kong P, Kisler K, Winkler EA, Ramanathan A, Kanekiyo T, Bu G, Owens NC, Rege SV, Si G, Ahuja A, Zhu D, Miller CA, Schneider JA, Maeda M, Maeda T, Sugawara T, Ichida JK, Zlokovic BV. Zhao Z, et al. Among authors: owens nc. Nat Neurosci. 2024 Jan;27(1):208. doi: 10.1038/s41593-023-01509-y. Nat Neurosci. 2024. PMID: 37985802 No abstract available.
Primate-specific ZNF808 is essential for pancreatic development in humans.
De Franco E, Owens NDL, Montaser H, Wakeling MN, Saarimäki-Vire J, Triantou A, Ibrahim H, Balboa D, Caswell RC, Jennings RE, Kvist JA, Johnson MB, Muralidharan S, Ellard S, Wright CF, Maddirevula S, Alkuraya FS; Pancreatic Agenesis Gene Discovery Consortium; Hanley NA, Flanagan SE, Otonkoski T, Hattersley AT, Imbeault M. De Franco E, et al. Among authors: owens ndl. Nat Genet. 2023 Dec;55(12):2075-2081. doi: 10.1038/s41588-023-01565-x. Epub 2023 Nov 16. Nat Genet. 2023. PMID: 37973953 Free PMC article.
197 results