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ACOX2 deficiency: A disorder of bile acid synthesis with transaminase elevation, liver fibrosis, ataxia, and cognitive impairment.
Vilarinho S, Sari S, Mazzacuva F, Bilgüvar K, Esendagli-Yilmaz G, Jain D, Akyol G, Dalgiç B, Günel M, Clayton PT, Lifton RP. Vilarinho S, et al. Among authors: jain d. Proc Natl Acad Sci U S A. 2016 Oct 4;113(40):11289-11293. doi: 10.1073/pnas.1613228113. Epub 2016 Sep 19. Proc Natl Acad Sci U S A. 2016. PMID: 27647924 Free PMC article.
Gaucher disease gene GBA functions in immune regulation.
Liu J, Halene S, Yang M, Iqbal J, Yang R, Mehal WZ, Chuang WL, Jain D, Yuen T, Sun L, Zaidi M, Mistry PK. Liu J, et al. Among authors: jain d. Proc Natl Acad Sci U S A. 2012 Jun 19;109(25):10018-23. doi: 10.1073/pnas.1200941109. Epub 2012 Jun 4. Proc Natl Acad Sci U S A. 2012. PMID: 22665763 Free PMC article.
Glucocerebrosidase 2 gene deletion rescues type 1 Gaucher disease.
Mistry PK, Liu J, Sun L, Chuang WL, Yuen T, Yang R, Lu P, Zhang K, Li J, Keutzer J, Stachnik A, Mennone A, Boyer JL, Jain D, Brady RO, New MI, Zaidi M. Mistry PK, et al. Among authors: jain d. Proc Natl Acad Sci U S A. 2014 Apr 1;111(13):4934-9. doi: 10.1073/pnas.1400768111. Epub 2014 Mar 17. Proc Natl Acad Sci U S A. 2014. PMID: 24639522 Free PMC article.
Prototheca zopfii Colitis in Inherited CARD9 Deficiency.
Sari S, Dalgic B, Muehlenbachs A, DeLeon-Carnes M, Goldsmith CS, Ekinci O, Jain D, Keating MK, Vilarinho S. Sari S, et al. Among authors: jain d. J Infect Dis. 2018 Jul 2;218(3):485-489. doi: 10.1093/infdis/jiy198. J Infect Dis. 2018. PMID: 29659908 Free PMC article.
Recessive Mutations in KIF12 Cause High Gamma-Glutamyltransferase Cholestasis.
Ünlüsoy Aksu A, Das SK, Nelson-Williams C, Jain D, Özbay Hoşnut F, Evirgen Şahin G, Lifton RP, Vilarinho S. Ünlüsoy Aksu A, et al. Among authors: jain d. Hepatol Commun. 2019 Feb 13;3(4):471-477. doi: 10.1002/hep4.1320. eCollection 2019 Apr. Hepatol Commun. 2019. PMID: 30976738 Free PMC article.
Clinical utility of genomic analysis in adults with idiopathic liver disease.
Hakim A, Zhang X, DeLisle A, Oral EA, Dykas D, Drzewiecki K, Assis DN, Silveira M, Batisti J, Jain D, Bale A, Mistry PK, Vilarinho S. Hakim A, et al. Among authors: jain d. J Hepatol. 2019 Jun;70(6):1214-1221. doi: 10.1016/j.jhep.2019.01.036. Epub 2019 Apr 15. J Hepatol. 2019. PMID: 31000363 Free PMC article.
2,275 results