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The individual and global impact of copy-number variants on complex human traits.
Auwerx C, Lepamets M, Sadler MC, Patxot M, Stojanov M, Baud D, Mägi R; Estonian Biobank Research Team; Porcu E, Reymond A, Kutalik Z. Auwerx C, et al. Am J Hum Genet. 2022 Apr 7;109(4):647-668. doi: 10.1016/j.ajhg.2022.02.010. Epub 2022 Mar 2. Am J Hum Genet. 2022. PMID: 35240056 Free PMC article.
Other signals overlapped Mendelian disorder regions, suggesting variable expressivity and broad impact of these loci, as illustrated by signals mapping to Rotor syndrome (SLCO1B1/3), renal cysts and diabetes syndrome (HNF1B), or Charcot-Marie-Tooth (PMP22) loci. ...
Other signals overlapped Mendelian disorder regions, suggesting variable expressivity and broad impact of these loci, as illustrated by sign …
Congenital nonhemolytic hyperbilirubinemias.
Cichoz-Lach H, Celiński K, Słomka M. Cichoz-Lach H, et al. Ann Univ Mariae Curie Sklodowska Med. 2004;59(1):449-52. Ann Univ Mariae Curie Sklodowska Med. 2004. PMID: 16146029
They are divided into two groups: with unconjugated hyperbilirubinemia (Crigler-Najjar syndrome, Gilbert syndrome) and conjugated hyperbilirubinemia (Dubin-Johnson syndrome and Rotor syndrome). Because CNH in adults are benign disorders and the prognosis is excellen …
They are divided into two groups: with unconjugated hyperbilirubinemia (Crigler-Najjar syndrome, Gilbert syndrome) and conjugated hyperbilir …
New insights in bilirubin metabolism and their clinical implications.
Sticova E, Jirsa M. Sticova E, et al. World J Gastroenterol. 2013 Oct 14;19(38):6398-407. doi: 10.3748/wjg.v19.i38.6398. World J Gastroenterol. 2013. PMID: 24151358 Free PMC article. Review.
Several inherited disorders characterised by impaired bilirubin conjugation (Crigler-Najjar syndrome type I and type II, Gilbert syndrome) or transport (Dubin-Johnson and Rotor syndrome) result in various degrees of hyperbilirubinemia of either the predominantly unc …
Several inherited disorders characterised by impaired bilirubin conjugation (Crigler-Najjar syndrome type I and type II, Gilbert syndrome) o …
The hereditary hyperbilirubinaemias.
Nowicki MJ, Poley JR. Nowicki MJ, et al. Baillieres Clin Gastroenterol. 1998 Jun;12(2):355-67. doi: 10.1016/s0950-3528(98)90139-7. Baillieres Clin Gastroenterol. 1998. PMID: 9890077 Review.
The remainder of the chapter will discuss the conjugated hyper-bilirubinemias: Rotor syndrome and Dubin-Johnson syndrome. These rare diseases share many clinical features; however, they can be readily distinguished by biochemical markers in the urine and bile....
The remainder of the chapter will discuss the conjugated hyper-bilirubinemias: Rotor syndrome and Dubin-Johnson syndrome. Thes …
Inherited disorders of bilirubin transport and conjugation: new insights into molecular mechanisms and consequences.
Erlinger S, Arias IM, Dhumeaux D. Erlinger S, et al. Gastroenterology. 2014 Jun;146(7):1625-38. doi: 10.1053/j.gastro.2014.03.047. Epub 2014 Apr 1. Gastroenterology. 2014. PMID: 24704527 Review.
Reductions in uptake could increase levels of unconjugated or conjugated bilirubin (Rotor syndrome). Defects in bilirubin conjugation could increase levels of unconjugated bilirubin; the effects can be benign and frequent (Gilbert syndrome) or rare but severe, incre …
Reductions in uptake could increase levels of unconjugated or conjugated bilirubin (Rotor syndrome). Defects in bilirubin conj …
Complete OATP1B1 and OATP1B3 deficiency causes human Rotor syndrome by interrupting conjugated bilirubin reuptake into the liver.
van de Steeg E, Stránecký V, Hartmannová H, Nosková L, Hřebíček M, Wagenaar E, van Esch A, de Waart DR, Oude Elferink RP, Kenworthy KE, Sticová E, al-Edreesi M, Knisely AS, Kmoch S, Jirsa M, Schinkel AH. van de Steeg E, et al. J Clin Invest. 2012 Feb;122(2):519-28. doi: 10.1172/JCI59526. Epub 2012 Jan 9. J Clin Invest. 2012. PMID: 22232210 Free PMC article.
The mechanistic basis of bilirubin excretion and hyperbilirubinemia syndromes is largely understood, but that of Rotor syndrome, an autosomal recessive disorder characterized by conjugated hyperbilirubinemia, coproporphyrinuria, and near-absent hepatic uptake of ani …
The mechanistic basis of bilirubin excretion and hyperbilirubinemia syndromes is largely understood, but that of Rotor syndrome …
Coronary Artery Disease in Patients With Disorders of Bilirubin Excretion.
Gupta N, Chaudhary R, Krishnamoorthy P, Mahajan S, Bodin R, Sule S. Gupta N, et al. Am J Ther. 2017 Nov-Dec;24(6):e653-e658. doi: 10.1097/MJT.0000000000000343. Am J Ther. 2017. PMID: 26448335
We aimed to determine the predictors of coronary artery disease (CAD) in patients with abnormal bilirubin excretion, that is, Gilbert syndrome, Crigler-Najjar syndrome, Dubin-Johnson syndrome, and Rotor syndrome. We analyzed data from the Healthcare Cost and Utiliza …
We aimed to determine the predictors of coronary artery disease (CAD) in patients with abnormal bilirubin excretion, that is, Gilbert syndro …
Down-regulation of OATP1B proteins correlates with hyperbilirubinemia in advanced cholestasis.
Sticova E, Lodererova A, van de Steeg E, Frankova S, Kollar M, Lanska V, Kotalova R, Dedic T, Schinkel AH, Jirsa M. Sticova E, et al. Int J Clin Exp Pathol. 2015 May 1;8(5):5252-62. eCollection 2015. Int J Clin Exp Pathol. 2015. PMID: 26191226 Free PMC article.
AIM: Organic anion-transporting polypeptides OATP1B1 and OATP1B3 are sinusoidal membrane transporters mediating liver uptake of a wide range of substrates including conjugated and unconjugated bilirubin, xenobiotics and drugs. Absence of OATP1Bs in the liver causes Rotor …
AIM: Organic anion-transporting polypeptides OATP1B1 and OATP1B3 are sinusoidal membrane transporters mediating liver uptake of a wide range …