Somlo, Stefan - Yale University - Biological & Biomedical Sciences

个人简介

MD Columbia University (1984) BA Harvard University, Biochemistry (1980) Fellow Yale University School of Medicine Intern/Resident Albert Einstein College of Medicine Board Certification AB of Internal Medicine, Internal Medicine (1988)

研究领域

Cilia; Genetics; Kidney Diseases; Liver Diseases; Nephrology; TRPP Cation Channels

近期论文

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Sec63 and Xbp1 regulate IRE1α activity and polycystic disease severity Fedeles SV, So JS, Shrikhande A, Lee SH, Gallagher AR, Barkauskas CE, *Somlo S, *Lee AH. (2015), J Clin Invest. 2015 May;125(5):1955-67. doi: 10.1172/JCI78863. Epub 2015 Apr 6 Altered trafficking and stability of polycystins underlie polycystic kidney disease. Cai Y, Fedeles SV, Dong K, Anyatonwu G, Onoe T, Mitobe M, Gao JD, Okuhara D, Tian X, Gallagher AR, Tang Z, Xie X, Lalioti MD, Lee AH, Ehrlich BE, Somlo S. J Clin Invest, 124:5129-44. Loss of cilia suppresses cyst growth in genetic models of autosomal dominant polycystic kidney disease. Ma M, Tian X, Igarashi P, Pazour GJ, Somlo S. Nature Genet., 45:1004–1012. A genetic interaction network of five genes for human polycystic kidney and liver diseases defines polycystin-1 as the central determinant of cyst formation Fedeles SV, Tian X, Gallagher AR, Mitobe M, Nishio S, Lee SH, Cai Y, Geng L, Crews CM, Somlo S: A genetic interaction network of five genes for human polycystic kidney and liver diseases defines polycystin-1 as the central determinant of cyst formation. Nat Genet 43:639-647, 2011 Loss of oriented cell division does not initiate cyst formation Nishio S, Tian X, Gallagher AR, Yu Z, Patel V, Igarashi P, Somlo S: Loss of oriented cell division does not initiate cyst formation. J Am Soc Nephrol 21:295-302, 2010 Besse W, Dong K, Choi J, Punia S, Fedeles SV, Choi M, Gallagher AR, Huang EB, Gulati A, Knight J, Mane S, Tahvanainen E, Tahvanainen P, Sanna-Cherchi S, Lifton RP, Watnick T, Pei YP, Torres VE, Somlo S: Isolated polycystic liver disease genes define effectors of polycystin-1 function. J Clin Invest. 2017 May 1; 2017 Apr 4. PMID: 28375157 de Stephanis L, Bonon A, Varani K, Lanza G, Gafà R, Pinton P, Pema M, Somlo S, Boletta A, Aguiari G: Double inhibition of cAMP and mTOR signalling may potentiate the reduction of cell growth in ADPKD cells. Clin Exp Nephrol. 2017 Apr; 2016 Jun 9. PMID: 27278932 Ma M, Gallagher AR, Somlo S: Ciliary Mechanisms of Cyst Formation in Polycystic Kidney Disease. Cold Spring Harb Perspect Biol. 2017 Mar 20; 2017 Mar 20. PMID: 28320755 Padovano V, Kuo IY, Stavola LK, Aerni HR, Flaherty BJ, Chapin HC, Ma M, Somlo S, Boletta A, Ehrlich BE, Rinehart J, Caplan MJ: The polycystins are modulated by cellular oxygen-sensing pathways and regulate mitochondrial function. Mol Biol Cell. 2017 Jan 15; 2016 Nov 23. PMID: 27881662 Li Y, Tian X, Ma M, Jerman S, Kong S, Somlo S, Sun Z: Deletion of ADP Ribosylation Factor-Like GTPase 13B Leads to Kidney Cysts. J Am Soc Nephrol. 2016 Dec; 2016 May 6. PMID: 27153923 Hassan H, Tian X, Inoue K, Chai N, Liu C, Soda K, Moeckel G, Tufro A, Lee AH, Somlo S, Fedeles S, Ishibe S: Essential Role of X-Box Binding Protein-1 during Endoplasmic Reticulum Stress in Podocytes. J Am Soc Nephrol. 2016 Apr; 2015 Aug 24. PMID: 26303067 Franco I, Margaria JP, De Santis MC, Ranghino A, Monteyne D, Chiaravalli M, Pema M, Campa CC, Ratto E, Gulluni F, Perez-Morga D, Somlo S, Merlo GR, Boletta A, Hirsch E: Phosphoinositide 3-Kinase-C2α Regulates Polycystin-2 Ciliary Entry and Protects against Kidney Cyst Formation. J Am Soc Nephrol. 2016 Apr; 2015 Aug 13. PMID: 26271513 Pema M, Drusian L, Chiaravalli M, Castelli M, Yao Q, Ricciardi S, Somlo S, Qian F, Biffo S, Boletta A: mTORC1-mediated inhibition of polycystin-1 expression drives renal cyst formation in tuberous sclerosis complex. Nat Commun. 2016 Mar 2; 2016 Mar 2. PMID: 26931735 Li A, Tian X, Zhang X, Huang S, Ma Y, Wu D, Moeckel G, Somlo S, Wu G: Human polycystin-2 transgene dose-dependently rescues ADPKD phenotypes in Pkd2 mutant mice. Am J Pathol. 2015 Oct. PMID: 26435415 Antignac C, Calvet JP, Germino GG, Grantham JJ, Guay-Woodford LM, Harris PC, Hildebrandt F, Peters DJ, Somlo S, Torres VE, Walz G, Zhou J, Yu AS: The Future of Polycystic Kidney Disease Research--As Seen By the 12 Kaplan Awardees. J Am Soc Nephrol. 2015 Sep; 2015 May 7. PMID: 25952256 Pedrozo Z, Criollo A, Battiprolu PK, Morales CR, Contreras-Ferrat A, Fernández C, Jiang N, Luo X, Caplan MJ, Somlo S, Rothermel BA, Gillette TG, Lavandero S, Hill JA: Polycystin-1 Is a Cardiomyocyte Mechanosensor That Governs L-Type Ca2+ Channel Protein Stability. Circulation. 2015 Jun 16; 2015 Apr 17. PMID: 25888683 Fedeles SV, So JS, Shrikhande A, Lee SH, Gallagher AR, Barkauskas CE, Somlo S, Lee AH: Sec63 and Xbp1 regulate IRE1α activity and polycystic disease severity. J Clin Invest. 2015 May; 2015 Apr 6. PMID: 25844898 Cai Y, Fedeles SV, Dong K, Anyatonwu G, Onoe T, Mitobe M, Gao JD, Okuhara D, Tian X, Gallagher AR, Tang Z, Xie X, Lalioti MD, Lee AH, Ehrlich BE, Somlo S: Altered trafficking and stability of polycystins underlie polycystic kidney disease. J Clin Invest. 2014 Dec; 2014 Nov 3. PMID: 25365220 Bonventre JV, Boulware LE, Dember LM, Freedman BI, Furth SL, Holzman LB, Ketchum CJ, Little MH, Mehrotra R, Moe SM, Sands JM, Sedor JR, Somlo S, Star RA, Rys-Sikora KE, Kidney Research National Dialogue (KRND).: The kidney research national dialogue: gearing up to move forward. Clin J Am Soc Nephrol. 2014 Oct 7; 2014 Sep 15. PMID: 25225184 Guay-Woodford LM, Henske E, Igarashi P, Perrone RD, Reed-Gitomer B, Somlo S, Torres VE, Ketchum CJ, Star RA, Flessner MF, Rasooly RS: Filling the holes in cystic kidney disease research. Clin J Am Soc Nephrol. 2014 Oct 7; 2014 Jun 5. PMID: 24903391