Literature DB >> 16540757

Tuberous sclerosis complex and polycystic kidney disease together: an exception to the contiguous gene syndrome.

Audrey C Woerner, Kit-Sing Au, Aimee T Williams, Peter C Harris, Hope Northrup.   

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Year:  2006        PMID： 16540757     DOI： 10.1097/01.gim.0000204466.34876.d5

Source DB:  PubMed          Journal:  Genet Med        ISSN： 1098-3600            Impact factor:   8.822


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  3 in total

1.  Characterization of large rearrangements in autosomal dominant polycystic kidney disease and the PKD1/TSC2 contiguous gene syndrome.

Authors:  Mark B Consugar; Wai C Wong; Patrick A Lundquist; Sandro Rossetti; Vickie J Kubly; Denise L Walker; Laureano J Rangel; Richard Aspinwall; W Patrick Niaudet; Seza Ozen; Albert David; Milen Velinov; Eric J Bergstralh; Kyongtae T Bae; Arlene B Chapman; Lisa M Guay-Woodford; Jared J Grantham; Vicente E Torres; Julian R Sampson; Brian D Dawson; Peter C Harris
Journal:  Kidney Int       Date:  2008-09-24       Impact factor: 10.612

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

Authors:  Cristina Cabrera-López; Gemma Bullich; Teresa Martí; Violeta Català; Jose Ballarín; John J Bissler; Peter C Harris; Elisabet Ars; Roser Torra
Journal:  BMC Med Genet       Date:  2015-06-17       Impact factor: 2.103

3.  Impairment of Wnt11 function leads to kidney tubular abnormalities and secondary glomerular cystogenesis.

Authors:  Irina I Nagy; Qi Xu; Florence Naillat; Nsrein Ali; Ilkka Miinalainen; Anatoly Samoylenko; Seppo J Vainio
Journal:  BMC Dev Biol       Date:  2016-08-31       Impact factor: 1.978
  3 in total

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