Literature DB >> 19240728

Renal involvement in tuberous sclerosis complex and von Hippel-Lindau disease: shared disease mechanisms?

Brian J Siroky1, Maria F Czyzyk-Krzeska, John J Bissler.   

Abstract

Tuberous sclerosis complex and von Hippel-Lindau disease are distinct autosomal dominant tumor suppressor syndromes that can exhibit similar renal phenotypes and seem to share some signaling pathway components. Similarities exist in the current clinical management of, and the newly identified potential therapeutic approaches for, these conditions. This Review summarizes the pathophysiologic and therapeutic overlap between tuberous sclerosis complex and von Hippel-Lindau disease and highlights the results of recent drug trials in these settings.

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Year:  2009        PMID： 19240728     DOI： 10.1038/ncpneph1032

Source DB:  PubMed          Journal:  Nat Clin Pract Nephrol        ISSN： 1745-8323


  146 in total

1.  Malignant clear cell "sugar" tumor of the kidney: clear cell variant of epithelioid angiomyolipoma.

Authors:  Kazutaka Saito; Yashuhisa Fujii; Ichiro Kasahara; Nobuyuki Kobayashi; Tsutomu Kasuga; Kazunori Kihara
Journal:  J Urol       Date:  2002-12       Impact factor: 7.450

2.  Renal angiomyolipoma. A clinicopathologic study of 32 cases.

Authors:  G M Farrow; E G Harrison; D C Utz; D R Jones
Journal:  Cancer       Date:  1968-09       Impact factor: 6.860

3.  The von Hippel-Lindau tumor suppressor gene product represses oncogenic beta-catenin signaling in renal carcinoma cells.

Authors:  Benedetta Peruzzi; Gagani Athauda; Donald P Bottaro
Journal:  Proc Natl Acad Sci U S A       Date:  2006-09-18       Impact factor: 11.205

4.  A phase II, open-label study of gefitinib (IRESSA) in patients with locally advanced, metastatic, or relapsed renal-cell carcinoma.

Authors:  Monika Jermann; Rolf A Stahel; Marc Salzberg; Thomas Cerny; Markus Joerger; Silke Gillessen; Rudolf Morant; Fritz Egli; Kaspar Rhyner; Jean A Bauer; Miklos Pless
Journal:  Cancer Chemother Pharmacol       Date:  2005-07-29       Impact factor: 3.333

5.  Mutational analysis in a cohort of 224 tuberous sclerosis patients indicates increased severity of TSC2, compared with TSC1, disease in multiple organs.

Authors:  S L Dabora; S Jozwiak; D N Franz; P S Roberts; A Nieto; J Chung; Y S Choy; M P Reeve; E Thiele; J C Egelhoff; J Kasprzyk-Obara; D Domanska-Pakiela; D J Kwiatkowski
Journal:  Am J Hum Genet       Date:  2000-12-08       Impact factor: 11.025

6.  Epithelioid angiomyolipoma of the kidney: a report of five cases with a prominent and diagnostically confusing epithelioid smooth muscle component.

Authors:  J N Eble; M B Amin; R H Young
Journal:  Am J Surg Pathol       Date:  1997-10       Impact factor: 6.394

7.  von Hippel-Lindau protein binds hyperphosphorylated large subunit of RNA polymerase II through a proline hydroxylation motif and targets it for ubiquitination.

Authors:  Anna V Kuznetsova; Jaroslaw Meller; Phillip O Schnell; James A Nash; Monika L Ignacak; Yolanda Sanchez; Joan W Conaway; Ronald C Conaway; Maria F Czyzyk-Krzeska
Journal:  Proc Natl Acad Sci U S A       Date:  2003-02-25       Impact factor: 11.205

8.  Mapping of von Hippel-Lindau disease to chromosome 3p confirmed by genetic linkage analysis.

Authors:  E R Maher; E Bentley; J R Yates; D Barton; A Jennings; I W Fellows; M A Ponder; B A Ponder; C Benjamin; R Harris
Journal:  J Neurol Sci       Date:  1990-12       Impact factor: 3.181

Review 9.  Murine models of polycystic kidney disease: molecular and therapeutic insights.

Authors:  Lisa M Guay-Woodford
Journal:  Am J Physiol Renal Physiol       Date:  2003-12

10.  The molecular genetics of tuberous sclerosis.

Authors:  J R Sampson; P C Harris
Journal:  Hum Mol Genet       Date:  1994       Impact factor: 6.150
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  7 in total

1.  Loss of primary cilia upregulates renal hypertrophic signaling and promotes cystogenesis.

Authors:  P Darwin Bell; Wayne Fitzgibbon; Kelli Sas; Antine E Stenbit; May Amria; Amber Houston; Ryan Reichert; Sandra Gilley; Gene P Siegal; John Bissler; Mehmet Bilgen; Peter Cheng-te Chou; Lisa Guay-Woodford; Brad Yoder; Courtney J Haycraft; Brian Siroky
Journal:  J Am Soc Nephrol       Date:  2011-04-14       Impact factor: 10.121

Review 2.  Diagnosis and management of childhood polycystic kidney disease.

Authors:  William E Sweeney; Ellis D Avner
Journal:  Pediatr Nephrol       Date:  2010-10-29       Impact factor: 3.714

Review 3.  Diagnosis and screening of autosomal dominant polycystic kidney disease.

Authors:  York Pei; Terry Watnick
Journal:  Adv Chronic Kidney Dis       Date:  2010-03       Impact factor: 3.620

Review 4.  Clinical and molecular insights into tuberous sclerosis complex renal disease.

Authors:  Brian J Siroky; Hong Yin; John J Bissler
Journal:  Pediatr Nephrol       Date:  2010-12-09       Impact factor: 3.714

5.  Angiomyolipoma have common mutations in TSC2 but no other common genetic events.

Authors:  Wei Qin; Vineeta Bajaj; Izabela Malinowska; Xin Lu; Laura MacConaill; Chin-Lee Wu; David J Kwiatkowski
Journal:  PLoS One       Date:  2011-09-16       Impact factor: 3.240

6.  Tuberous sclerosis complex exhibits a new renal cystogenic mechanism.

Authors:  John J Bissler; Fahad Zadjali; Dave Bridges; Aristotelis Astrinidis; Sharon Barone; Ying Yao; JeAnna R Redd; Brian J Siroky; Yanqing Wang; Joel T Finley; Michael E Rusiniak; Heinz Baumann; Kamyar Zahedi; Kenneth W Gross; Manoocher Soleimani
Journal:  Physiol Rep       Date:  2019-01

Review 7.  Glomerulocystic kidney disease.

Authors:  John J Bissler; Brian J Siroky; Hong Yin
Journal:  Pediatr Nephrol       Date:  2010-01-21       Impact factor: 3.714
  7 in total

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