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Items: 1 to 20 of 48

1.

Early manifestations of renal disease in patients with tuberous sclerosis complex.

Malaga-Dieguez L, Spencer R, Pehrson LJ, Vento S, Menzer K, Devinsky O, Trachtman H.

Int J Nephrol Renovasc Dis. 2017 May 2;10:91-95. doi: 10.2147/IJNRD.S123638. eCollection 2017.

2.

TSC1 and TSC2 gene mutations and their implications for treatment in Tuberous Sclerosis Complex: a review.

Rosset C, Netto CBO, Ashton-Prolla P.

Genet Mol Biol. 2017 Jan-Mar;40(1):69-79. doi: 10.1590/1678-4685-GMB-2015-0321. Epub 2017 Feb 20.

3.

Inactivation of Tsc2 in Mesoderm-Derived Cells Causes Polycystic Kidney Lesions and Impairs Lung Alveolarization.

Ren S, Luo Y, Chen H, Warburton D, Lam HC, Wang LL, Chen P, Henske EP, Shi W.

Am J Pathol. 2016 Dec;186(12):3261-3272. doi: 10.1016/j.ajpath.2016.08.013. Epub 2016 Oct 18.

PMID:
27768862
4.

New developments in the genetics and pathogenesis of tumours in tuberous sclerosis complex.

Lam HC, Nijmeh J, Henske EP.

J Pathol. 2017 Jan;241(2):219-225. doi: 10.1002/path.4827. Epub 2016 Nov 29. Review.

PMID:
27753446
5.

A Review of the Genetics of Intracranial Berry Aneurysms and Implications for Genetic Counseling.

Hitchcock E, Gibson WT.

J Genet Couns. 2017 Feb;26(1):21-31. doi: 10.1007/s10897-016-0029-8. Epub 2016 Oct 14. Review.

6.

Mosaic and Intronic Mutations in TSC1/TSC2 Explain the Majority of TSC Patients with No Mutation Identified by Conventional Testing.

Tyburczy ME, Dies KA, Glass J, Camposano S, Chekaluk Y, Thorner AR, Lin L, Krueger D, Franz DN, Thiele EA, Sahin M, Kwiatkowski DJ.

PLoS Genet. 2015 Nov 5;11(11):e1005637. doi: 10.1371/journal.pgen.1005637. eCollection 2015 Nov.

7.

A polycystin-centric view of cyst formation and disease: the polycystins revisited.

Ong AC, Harris PC.

Kidney Int. 2015 Oct;88(4):699-710. doi: 10.1038/ki.2015.207. Epub 2015 Jul 22. Review.

8.

Insight into response to mTOR inhibition when PKD1 and TSC2 are mutated.

Cabrera-López C, Bullich G, Martí T, Català V, Ballarín J, Bissler JJ, Harris PC, Ars E, Torra R.

BMC Med Genet. 2015 Jun 17;16:39. doi: 10.1186/s12881-015-0185-y.

9.

A novel PKD1 variant demonstrates a disease-modifying role in trans with a truncating PKD1 mutation in patients with autosomal dominant polycystic kidney disease.

Ali H, Hussain N, Naim M, Zayed M, Al-Mulla F, Kehinde EO, Seaburg LM, Sundsbak JL, Harris PC.

BMC Nephrol. 2015 Mar 1;16:26. doi: 10.1186/s12882-015-0015-7.

10.

Renal manifestations of tuberous sclerosis among children: an Indian experience and review of the literature.

Korula S, Ekbote A, Kumar N, Danda S, Agarwal I, Chaturvedi S.

Clin Kidney J. 2014 Apr;7(2):134-7. doi: 10.1093/ckj/sft162. Epub 2014 Jan 26.

11.

Response to everolimus is seen in TSC-associated SEGAs and angiomyolipomas independent of mutation type and site in TSC1 and TSC2.

Kwiatkowski DJ, Palmer MR, Jozwiak S, Bissler J, Franz D, Segal S, Chen D, Sampson JR.

Eur J Hum Genet. 2015 Dec;23(12):1665-72. doi: 10.1038/ejhg.2015.47. Epub 2015 Mar 18.

12.

Tuberous sclerosis complex with autosomal dominant polycystic kidney disease: a rare duo.

Rijal JP, Dhakal P, Giri S, Dahal KV.

BMJ Case Rep. 2014 Dec 17;2014. pii: bcr2014207471. doi: 10.1136/bcr-2014-207471.

13.

A shower of second hit events as the cause of multifocal renal cell carcinoma in tuberous sclerosis complex.

Tyburczy ME, Jozwiak S, Malinowska IA, Chekaluk Y, Pugh TJ, Wu CL, Nussbaum RL, Seepo S, Dzik T, Kotulska K, Kwiatkowski DJ.

Hum Mol Genet. 2015 Apr 1;24(7):1836-42. doi: 10.1093/hmg/ddu597. Epub 2014 Nov 28.

14.

Congenital subependymal giant cell astrocytomas in patients with tuberous sclerosis complex.

Kotulska K, Borkowska J, Mandera M, Roszkowski M, Jurkiewicz E, Grajkowska W, Bilska M, Jóźwiak S.

Childs Nerv Syst. 2014 Dec;30(12):2037-42. doi: 10.1007/s00381-014-2555-8. Epub 2014 Sep 17.

15.

Evidence for pericyte origin of TSC-associated renal angiomyolipomas and implications for angiotensin receptor inhibition therapy.

Siroky BJ, Yin H, Dixon BP, Reichert RJ, Hellmann AR, Ramkumar T, Tsuchihashi Z, Bunni M, Dillon J, Bell PD, Sampson JR, Bissler JJ.

Am J Physiol Renal Physiol. 2014 Sep 1;307(5):F560-70. doi: 10.1152/ajprenal.00569.2013. Epub 2014 Jun 11.

16.

Tuberous sclerosis complex, mTOR, and the kidney: report of an NIDDK-sponsored workshop.

Henske EP, Rasooly R, Siroky B, Bissler J.

Am J Physiol Renal Physiol. 2014 Feb 1;306(3):F279-83. doi: 10.1152/ajprenal.00525.2013. Epub 2013 Nov 13.

17.

Polycystic kidney disease and chronic renal failure in tuberous sclerosis.

Dhakal M, Dhakal OP, Bhandari D.

BMJ Case Rep. 2013 Oct 2;2013. pii: bcr2013200711. doi: 10.1136/bcr-2013-200711.

18.

Functional polycystin-1 dosage governs autosomal dominant polycystic kidney disease severity.

Hopp K, Ward CJ, Hommerding CJ, Nasr SH, Tuan HF, Gainullin VG, Rossetti S, Torres VE, Harris PC.

J Clin Invest. 2012 Nov;122(11):4257-73. doi: 10.1172/JCI64313. Epub 2012 Oct 15.

19.

Congenital anomalies of the kidney and urinary tract: a genetic disorder?

Yosypiv IV.

Int J Nephrol. 2012;2012:909083. doi: 10.1155/2012/909083. Epub 2012 May 20.

20.

Cystogenesis and elongated primary cilia in Tsc1-deficient distal convoluted tubules.

Armour EA, Carson RP, Ess KC.

Am J Physiol Renal Physiol. 2012 Aug 15;303(4):F584-92. doi: 10.1152/ajprenal.00141.2012. Epub 2012 Jun 6.

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