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218 results for Kidney+Diseases,+Cystic+-+pathology

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ArticlesPeer ReviewedFull Text
Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity
Author / Creator:Bachmann-Gagescu, R ; Dempsey, J C ; Phelps, I G ; O'Roak, B J ; Knutzen, D M ; Rue, T C ; Ishak, G E ; Isabella, C R ; Gorden, N ; Adkins, J ; Boyle, E A ; de Lacy, N ; O'Day, D ; Alswaid, A ; Ramadevi A, Radha ; Lingappa, L ; Lourenço, C ; Martorell, L ; Garcia-Cazorla, À ; Ozyürek, H ; Haliloğlu, G ; Tuysuz, B ; Topçu, M ; Chance, P ; Parisi, M A ; Glass, I A ; Shendure, J ; Doherty, D
Publisher:England: BMJ Publishing Group LTD
Journal title:Journal of medical genetics, 2015-08, Vol.52 (8), p.514-522
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Super-resolution microscopy reveals that disruption of ciliary transition-zone architecture causes Joubert syndrome
Author / Creator:Shi, Xiaoyu ; Garcia, Galo ; Van De Weghe, Julie C. ; McGorty, Ryan ; Pazour, Gregory J. ; Doherty, Dan ; Huang, Bo ; Reiter, Jeremy F.
Publisher:London: Nature Publishing Group UK
Journal title:Nature cell biology, 2017-10, Vol.19 (10), p.1178-1188
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Nephronophthisis: a pathological and genetic perspective
Author / Creator:Wolf, Matthias T. F. ; Bonsib, Stephen M. ; Larsen, Christopher P. ; Hildebrandt, Friedhelm
Publisher:Berlin/Heidelberg: Springer Berlin Heidelberg
Journal title:Pediatric nephrology (Berlin, West), 2024-07, Vol.39 (7), p.1977-2000
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Identification of 99 novel mutations in a worldwide cohort of 1,056 patients with a nephronophthisis-related ciliopathy
Author / Creator:Halbritter, Jan ; Porath, Jonathan D. ; Diaz, Katrina A. ; Braun, Daniela A. ; Kohl, Stefan ; Chaki, Moumita ; Allen, Susan J. ; Soliman, Neveen A. ; Hildebrandt, Friedhelm ; Otto, Edgar A.
Publisher:Berlin/Heidelberg: Springer Berlin Heidelberg
Journal title:Human genetics, 2013-08, Vol.132 (8), p.865-884
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Malignancy rates and diagnostic performance of the Bosniak classification for the diagnosis of cystic renal lesions in computed tomography – a systematic review and meta-analysis
Author / Creator:Sevcenco, Sabina ; Spick, Claudio ; Helbich, Thomas H. ; Heinz, Gertraud ; Shariat, Shahrokh F. ; Klingler, Hans C. ; Rauchenwald, Michael ; Baltzer, Pascal A.
Publisher:Berlin/Heidelberg: Springer Berlin Heidelberg
Journal title:European radiology, 2017-06, Vol.27 (6), p.2239-2247
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Targeted exon skipping of a CEP290 mutation rescues Joubert syndrome phenotypes in vitro and in a murine model
Author / Creator:Ramsbottom, Simon A. ; Molinari, Elisa ; Srivastava, Shalabh ; Silberman, Flora ; Henry, Charline ; Alkanderi, Sumaya ; Devlin, Laura A. ; White, Kathryn ; Steel, David H. ; Saunier, Sophie ; Miles, Colin G. ; Sayer, John A.
Publisher:United States: National Academy of Sciences
Journal title:Proceedings of the National Academy of Sciences - PNAS, 2018-12, Vol.115 (49), p.12489-12494
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New insights into the role of HNF-1β in kidney (patho)physiology
Author / Creator:Ferrè, Silvia ; Igarashi, Peter
Publisher:Berlin/Heidelberg: Springer Berlin Heidelberg
Journal title:Pediatric nephrology (Berlin, West), 2019-08, Vol.34 (8), p.1325-1335
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Calpain1 inhibition enhances autophagy-lysosomal pathway and ameliorates tubulointerstitial fibrosis in Nephronophthisis
Author / Creator:Li, Dantong ; Zhang, Jinglan ; Su, Xinyu ; Yang, Yichen ; Lai, Jiayong ; Wei, Xiaoya ; Chen, Huamu ; Liu, Yaqing ; Wang, Haiyan ; Sun, Liangzhong
Publisher:England: BioMed Central
Journal title:Molecular medicine (Cambridge, Mass.), 2025-05, Vol.31 (1), p.166-17, Article 166
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Arl13b-regulated cilia activities are essential for polarized radial glial scaffold formation
Author / Creator:Higginbotham, Holden ; Guo, Jiami ; Yokota, Yukako ; Umberger, Nicole L ; Su, Chen-Ying ; Li, Jingjun ; Verma, Nisha ; Hirt, Joshua ; Ghukasyan, Vladimir ; Caspary, Tamara ; Anton, E S
Publisher:New York: Nature Publishing Group US
Journal title:Nature neuroscience, 2013-08, Vol.16 (8), p.1000-1007
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Ultrasound-based “CEUS-Bosniak”classification for cystic renal lesions: an 8-year clinical experience
Author / Creator:Herms, Elena ; Weirich, Gregor ; Maurer, Tobias ; Wagenpfeil, Stefan ; Preuss, Stephanie ; Sauter, Andreas ; Heck, Matthias ; Gärtner, Anita ; Hauner, Katharina ; Autenrieth, Michael ; Kübler, Hubert P ; Holzapfel, Konstantin ; Schwarz-Boeger, Ulrike ; Heemann, Uwe ; Slotta-Huspenina, Julia ; Stock, Konrad Friedrich
Publisher:Berlin: Springer Nature B.V
Journal title:World journal of urology, 2023-03, Vol.41 (3), p.679-685
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Bap1 is essential for kidney function and cooperates with Vhl in renal tumorigenesis
Author / Creator:Wang, Shan-Shan ; Gu, Yi-Feng ; Wolff, Nicholas ; Stefanius, Karoliina ; Christie, Alana ; Dey, Anwesha ; Hammer, Robert E. ; Xie, Xian-Jin ; Rakheja, Dinesh ; Pedrosa, Ivan ; Carroll, Thomas ; McKay, Renée M. ; Kapur, Payal ; Brugarolas, James
Publisher:United States: National Academy of Sciences
Journal title:Proceedings of the National Academy of Sciences - PNAS, 2014-11, Vol.111 (46), p.16538-16543
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COL4A1 Mutations and Hereditary Angiopathy, Nephropathy, Aneurysms, and Muscle Cramps
Author / Creator:Plaisier, Emmanuelle ; Gribouval, Olivier ; Alamowitch, Sonia ; Mougenot, Béatrice ; Prost, Catherine ; Verpont, Marie Christine ; Marro, Béatrice ; Desmettre, Thomas ; Cohen, Salomon Yves ; Roullet, Etienne ; Dracon, Michel ; Fardeau, Michel ; Van Agtmael, Tom ; Kerjaschki, Dontscho ; Antignac, Corinne ; Ronco, Pierre
Publisher:United States: Massachusetts Medical Society
Journal title:The New England journal of medicine, 2007-12, Vol.357 (26), p.2687-2695
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Joubert syndrome-derived induced pluripotent stem cells show altered neuronal differentiation in vitro
Author / Creator:De Mori, Roberta ; Tardivo, Silvia ; Pollara, Lidia ; Giliani, Silvia Clara ; Ali, Eltahir ; Giordano, Lucio ; Leuzzi, Vincenzo ; Fischetto, Rita ; Gener, Blanca ; Diprima, Santo ; Morelli, Marco J. ; Monti, Maria Cristina ; Sottile, Virginie ; Valente, Enza Maria
Publisher:Berlin/Heidelberg: Springer Berlin Heidelberg
Journal title:Cell and tissue research, 2024-05, Vol.396 (2), p.255-267
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ArticlesPeer ReviewedFull Text
High-throughput mutation analysis in patients with a nephronophthisis-associated ciliopathy applying multiplexed barcoded array-based PCR amplification and next-generation sequencing
Author / Creator:Halbritter, Jan ; Diaz, Katrina ; Chaki, Moumita ; Porath, Jonathan D ; Tarrier, Brendan ; Fu, Clementine ; Innis, Jamie L ; Allen, Susan J ; Lyons, Robert H ; Stefanidis, Constantinos J ; Omran, Heymut ; Soliman, Neveen A ; Otto, Edgar A
Publisher:London: BMJ Publishing Group Ltd
Journal title:Journal of medical genetics, 2012-12, Vol.49 (12), p.756-767
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ArticlesPeer ReviewedFull Text
SOX9-dependent fibrosis drives renal function in nephronophthisis
Author / Creator:Patel, Maulin Mukeshchandra ; Gerakopoulos, Vasileios ; Lettenmaier, Bryan ; Petsouki, Eleni ; Zimmerman, Kurt A ; Sayer, John A ; Tsiokas, Leonidas
Publisher:London: Nature Publishing Group UK
Journal title:EMBO molecular medicine, 2025-06, Vol.17 (6), p.1238-1258
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Primary cilia formation requires the Leigh syndrome–associated mitochondrial protein NDUFAF2
Author / Creator:Lo, Chien-Hui ; Liu, Zhiquan ; Chen, Siyu ; Lin, Frank ; Berneshawi, Andrew R. ; Yu, Charles Q. ; Koo, Euna B. ; Kowal, Tia J. ; Ning, Ke ; Hu, Yang ; Wang, Won-Jing ; Liao, Y. Joyce ; Sun, Yang
Publisher:United States: American Society for Clinical Investigation
Journal title:The Journal of clinical investigation, 2024-07, Vol.134 (13), p.1-15
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Unveiling the Pathogenic Role of Novel CPLANE1 Compound Heterozygous Variants in Joubert Syndrome: Insights Into mRNA Stability and NMD Pathway
Author / Creator:Hong, Zhidan ; Xiang, Sheng ; Chen, Zhiying ; Qiu, Xueping ; Zhang, Li ; Ma, Ling ; Wang, Mei
Publisher:England: John Wiley & Sons, Inc
Journal title:Journal of cellular and molecular medicine, 2025-03, Vol.29 (5), p.e70484-n/a
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Clinical characteristics and prognostic factors of patients with non-small cell lung cancer having HER2 alterations
Publisher:Heidelberg: Springer Nature B.V
Journal title:Journal of cancer research and clinical oncology, 2023-05, Vol.149 (5), p.2029-2039
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Diagnostic Approach to Eosinophilic Renal Neoplasms
Author / Creator:Kryvenko, Oleksandr N. ; Jorda, Merce ; Argani, Pedram ; Epstein, Jonathan I.
Publisher:United States: College of American Pathologists
Journal title:Archives of pathology & laboratory medicine (1976), 2014-11, Vol.138 (11), p.1531-1541
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New functions of B9D2 in tight junctions and epithelial polarity
Author / Creator:Caenen-Braz, Chloe ; Bouzhir, Latifa ; Dupuis-Williams, Pascale
Publisher:London: Nature Publishing Group UK
Journal title:Scientific reports, 2024-10, Vol.14 (1), p.25293-15, Article 25293
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Showing 1 to 20 of 218 results

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Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity

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Super-resolution microscopy reveals that disruption of ciliary transition-zone architecture causes Joubert syndrome

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Nephronophthisis: a pathological and genetic perspective

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Identification of 99 novel mutations in a worldwide cohort of 1,056 patients with a nephronophthisis-related ciliopathy

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Malignancy rates and diagnostic performance of the Bosniak classification for the diagnosis of cystic renal lesions in computed tomography – a systematic review and meta-analysis

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Targeted exon skipping of a CEP290 mutation rescues Joubert syndrome phenotypes in vitro and in a murine model

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New insights into the role of HNF-1β in kidney (patho)physiology

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Calpain1 inhibition enhances autophagy-lysosomal pathway and ameliorates tubulointerstitial fibrosis in Nephronophthisis

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Arl13b-regulated cilia activities are essential for polarized radial glial scaffold formation

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Ultrasound-based “CEUS-Bosniak”classification for cystic renal lesions: an 8-year clinical experience

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Bap1 is essential for kidney function and cooperates with Vhl in renal tumorigenesis

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COL4A1 Mutations and Hereditary Angiopathy, Nephropathy, Aneurysms, and Muscle Cramps

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Joubert syndrome-derived induced pluripotent stem cells show altered neuronal differentiation in vitro

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High-throughput mutation analysis in patients with a nephronophthisis-associated ciliopathy applying multiplexed barcoded array-based PCR amplification and next-generation sequencing

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SOX9-dependent fibrosis drives renal function in nephronophthisis

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Primary cilia formation requires the Leigh syndrome–associated mitochondrial protein NDUFAF2

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Unveiling the Pathogenic Role of Novel CPLANE1 Compound Heterozygous Variants in Joubert Syndrome: Insights Into mRNA Stability and NMD Pathway

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Clinical characteristics and prognostic factors of patients with non-small cell lung cancer having HER2 alterations

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Diagnostic Approach to Eosinophilic Renal Neoplasms

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New functions of B9D2 in tight junctions and epithelial polarity

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