论文信息 - Homozygous NEK8 Mutations in Siblings with Neonatal Cholestasis Progressing to End Stage Liver, Renal and Cardiac Disease.

Homozygous NEK8 Mutations in Siblings with Neonatal Cholestasis Progressing to End Stage Liver, Renal and Cardiac Disease.

Received March 14, 2019 From the Division of Nutrition, the yDivis Genetics, the §Divisio rics, and the jjDvision University of Texas S Address correspondence of Pediatric Gastroent Pediatrics, University Center, Address 193 (e-mail: amal.aqul@u Supplemental digital co citations appear in th provided in the HTM (www.jpgn.org). The authors report no co Copyright # 2019 by E Hepatology, and Nut Gastroenterology, He DOI: 10.1097/MPG.0000

[1] R. Salomon,et al. Novel NEK8 Mutations Cause Severe Syndromic Renal Cystic Dysplasia through YAP Dysregulation , 2016, PLoS genetics.

[2] N. Spinner,et al. Compound heterozygous mutations in NEK8 in siblings with end‐stage renal disease with hepatic and cardiac anomalies , 2016, American journal of medical genetics. Part A.

[3] Colin A. Johnson,et al. Mutations in NEK8 link multiple organ dysplasia with altered Hippo signalling and increased c-MYC expression. , 2013, Human molecular genetics.

[4] R. Bayliss,et al. The Nek8 protein kinase, mutated in the human cystic kidney disease nephronophthisis, is both activated and degraded during ciliogenesis , 2011, Human molecular genetics.

[5] M. Gunay‐Aygun. Liver and kidney disease in ciliopathies , 2009, American journal of medical genetics. Part C, Seminars in medical genetics.

[6] F. Hildebrandt,et al. NEK8 mutations affect ciliary and centrosomal localization and may cause nephronophthisis. , 2008, Journal of the American Society of Nephrology : JASN.

[7] N. Hadžić,et al. Guideline for the Evaluation of Cholestatic Jaundice in Infants: Joint Recommendations of the North American Society for Pediatric Gastroenterology, Hepatology, and Nutrition and the European Society for Pediatric Gastroenterology, Hepatology, and Nutrition , 2017, Journal of pediatric gastroenterology and nutrition.