Results 131 to 140 of about 3,398 (180)

BICC1 interacts with PKD1 and PKD2 to drive cystogenesis in ADPKD. [PDF]

Elife
Tran U, Streets AJ, Smith D, Decker E, Kirschfink A, Izem L, Hassey JM, Rutland B, Valluru MK, Bräsen JH, Ott E, Epting D, Eisenberger T, Ong ACM, Bergmann C, Wessely O.   +15 more
europepmc   +1 more source

Caroli disease associated with autosomal recessive polycystic kidney disease: CT imaging features of a case report. [PDF]

Radiol Case Rep
Aien MT, Osmani H, Haqyar MI.
europepmc   +1 more source

ARPKD: molecular basis and perspectives on drug development

Giornale di Clinica Nefrologia e Dialisi
Max C. Liebau
doaj   +1 more source

Use of Next-Generation Sequencing and Whole-Exome Sequencing in the Diagnosis of Adult-Onset Familial Intrahepatic Cholestasis: Challenges in Interpreting Variants of Uncertain Significance. [PDF]

Diagnostics (Basel)
Conti A, Gabrielli F, Ferrari S, Vaisfeld A, De Masi C, Azzaroli F, Piscaglia F, Vitale G.   +7 more
europepmc   +1 more source

Disruption of the human cystin-1 myristoyl-electrostatic switch causes polycystic kidney disease that phenocopies autosomal recessive polycystic kidney disease. [PDF]

Kidney Int
Yang C, Harafuji N, Watts JA, Tao B, Moran C, Clements J, Price K, Laucevicius A, Burrill N, Gebb J, Soni S, Oliver E, Savla JJ, Christ L, Moldenhauer J, Hartung EA, Didier R, Santani A, Sandford RN, Selkirk L, Radley JA, Mann K, Simonicova I, Karl R, Kariat Ashraf AP, Wachten D, Wilson L, Bebok Z, Caldovic L, Guay-Woodford LM.   +29 more
europepmc   +1 more source

Kidney organoids demonstrate that PTH1R drives a cystogenic cAMP-pPKA-pCREB axis in developmental polycystic kidney disease. [PDF]

Am J Physiol Renal Physiol
Afrin H, Robichaud JH, Qamar U, Harris PC, Gupta N.   +4 more
europepmc   +1 more source

Atypical presentations of fetal polycystic kidney disease demonstrates the utility of a genomic autopsy for accurate post-mortem diagnoses. [PDF]

Hum Genomics
Frank MSB, Bennett MK, Ha TT, Moore L, Arts P, Byrne AB, Babic M, Arriola-Martinez L, Toubia J, Brautigan PJ, Feng J, Schwarz Q, Thomas PQ, Piltz SG, White MA, Moghimi A, Strachan K, Kwan E, Springer A, Lewit-Mendes M, Dearman J, Davis T, Kevin L, McCarthy HJ, Liebelt J, Krzesinski E, Regan M, Verma K, McGillivray G, Jayasinghe K, Jackson MR, Barnett CP, Scott HS.   +32 more
europepmc   +1 more source

The Role of Mitochondria in Polycystic Kidney Disease. [PDF]

Int J Mol Sci
Wang Y, Mao J, Liu F.
europepmc   +1 more source

Genetic etiology of inherited kidney diseases in egyptian patients: next generation sequencing identifies six novel variants. [PDF]

Mol Cell Pediatr
Elaraby NM, Metwally AM, Sayed SM, Ashaat NA, Gamal M, Hussen DF, Abuelela S, Ramadan A, Kobesiy MM, Shaker MM, Elgebaly H, Elnady HG, Gammal ME, Ashaat EA.   +13 more
europepmc   +1 more source

Integrating single-cell multi-omics and machine learning to reveal triaptosis heterogeneity in clear cell renal cell carcinoma. [PDF]

Hum Genomics
Dai H, Lu R, Zhang M, Hang Z, Jiang K, Qin C, Zhao Y.   +6 more
europepmc   +1 more source