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361 results for Cysts+-+genetics

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ArticlesPeer ReviewedFull Text
Low-grade developmental and epilepsy associated brain tumors: a critical update 2020
Author / Creator:Slegers, Rutger Juriaan ; Blumcke, Ingmar
Publisher:England: BioMed Central Ltd
Journal title:Acta neuropathologica communications, 2020-03, Vol.8 (1), p.27-27, Article 27
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Loss of cilia suppresses cyst growth in genetic models of autosomal dominant polycystic kidney disease
Author / Creator:Ma, Ming ; Tian, Xin ; Igarashi, Peter ; Pazour, Gregory J ; Somlo, Stefan
Publisher:New York: Nature Publishing Group US
Journal title:Nature genetics, 2013-09, Vol.45 (9), p.1004-1012
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Isolated polycystic liver disease genes define effectors of polycystin-1 function
Author / Creator:Besse, Whitney ; Dong, Ke ; Choi, Jungmin ; Punia, Sohan ; Fedeles, Sorin V. ; Choi, Murim ; Gallagher, Anna-Rachel ; Huang, Emily B. ; Gulati, Ashima ; Knight, James ; Mane, Shrikant ; Tahvanainen, Esa ; Tahvanainen, Pia ; Sanna-Cherchi, Simone ; Lifton, Richard P. ; Watnick, Terry ; Pei, York P. ; Torres, Vicente E. ; Somlo, Stefan
Publisher:United States: American Society for Clinical Investigation
Journal title:The Journal of clinical investigation, 2017-05, Vol.127 (5), p.1772-1785
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PKD1 and PKD2 mRNA cis-inhibition drives polycystic kidney disease progression
Author / Creator:Lakhia, Ronak ; Ramalingam, Harini ; Chang, Chun-Mien ; Cobo-Stark, Patricia ; Biggers, Laurence ; Flaten, Andrea ; Alvarez, Jesus ; Valencia, Tania ; Wallace, Darren P. ; Lee, Edmund C. ; Patel, Vishal
Publisher:London: Nature Publishing Group UK
Journal title:Nature communications, 2022-08, Vol.13 (1), p.4765-14, Article 4765
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Pathobiology of inherited biliary diseases: a roadmap to understand acquired liver diseases
Author / Creator:Fabris, Luca ; Fiorotto, Romina ; Spirli, Carlo ; Cadamuro, Massimiliano ; Mariotti, Valeria ; Perugorria, Maria J. ; Banales, Jesus M. ; Strazzabosco, Mario
Publisher:London: Nature Publishing Group UK
Journal title:Nature reviews. Gastroenterology & hepatology, 2019-08, Vol.16 (8), p.497-511
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Clinical and genetic features of 334 Asian patients with Birt–Hogg–Dubé syndrome (BHDS) who presented with pulmonary cysts with or without a history of pneumothorax, with special reference to BHDS-ass...
Author / Creator:Namba, Yukiko ; Ebana, Hiroki ; Okamoto, Shouichi ; Kobayashi, Etsuko ; Kurihara, Masatoshi ; Sekimoto, Yasuhito ; Tsuboshima, Kenji ; Okura, Makiko Kunogi ; Mitsuishi, Yoichiro ; Takahashi, Kazuhisa ; Seyama, Kuniaki
Publisher:United States: Public Library of Science
Journal title:PloS one, 2023-07, Vol.18 (7), p.e0289175-e0289175
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Multiomic analyses implicate a neurodevelopmental program in the pathogenesis of cerebral arachnoid cysts
Author / Creator:Kundishora, Adam J. ; Allington, Garrett ; McGee, Stephen ; Mekbib, Kedous Y. ; Gainullin, Vladimir ; Timberlake, Andrew T. ; Nelson-Williams, Carol ; Kiziltug, Emre ; Smith, Hannah ; Ocken, Jack ; Shohfi, John ; Allocco, August ; Duy, Phan Q. ; Elsamadicy, Aladine A. ; Dong, Weilai ; Zhao, Shujuan ; Wang, Yung-Chun ; Qureshi, Hanya M. ; DiLuna, Michael L. ; Mane, Shrikant ; Tikhonova, Irina R. ; Fu, Po-Ying ; Castaldi, Christopher ; López-Giráldez, Francesc ; Knight, James R. ; Furey, Charuta G. ; Carter, Bob S. ; Haider, Shozeb ; Moreno-De-Luca, Andres ; Alper, Seth L. ; Gunel, Murat ; Millan, Francisca ; Lifton, Richard P. ; Torene, Rebecca I. ; Jin, Sheng Chih ; Kahle, Kristopher T.
Publisher:New York: Nature Publishing Group US
Journal title:Nature medicine, 2023-03, Vol.29 (3), p.667-678
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Characterization of Soybean WRKY Gene Family and Identification of Soybean WRKY Genes that Promote Resistance to Soybean Cyst Nematode
Author / Creator:Yang, Yan ; Zhou, Yuan ; Chi, Yingjun ; Fan, Baofang ; Chen, Zhixiang
Publisher:London: Nature Publishing Group UK
Journal title:Scientific reports, 2017-12, Vol.7 (1), p.17804-13, Article 17804
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Mutations in SNORD118 cause the cerebral microangiopathy leukoencephalopathy with calcifications and cysts
Author / Creator:Jenkinson, Emma M ; Rodero, Mathieu P ; Kasher, Paul R ; Uggenti, Carolina ; Oojageer, Anthony ; Goosey, Laurence C ; Rose, Yoann ; Kershaw, Christopher J ; Urquhart, Jill E ; Williams, Simon G ; Bhaskar, Sanjeev S ; O'Sullivan, James ; Baerlocher, Gabriela M ; Haubitz, Monika ; Aubert, Geraldine ; Barañano, Kristin W ; Barnicoat, Angela J ; Battini, Roberta ; Berger, Andrea ; Blair, Edward M ; Brunstrom-Hernandez, Janice E ; Buckard, Johannes A ; Cassiman, David M ; Caumes, Rosaline ; Cordelli, Duccio M ; De Waele, Liesbeth M ; Fay, Alexander J ; Ferreira, Patrick ; Fletcher, Nicholas A ; Fryer, Alan E ; Goel, Himanshu ; Hemingway, Cheryl A ; Henneke, Marco ; Hughes, Imelda ; Jefferson, Rosalind J ; Kumar, Ram ; Lagae, Lieven ; Landrieu, Pierre G ; Lourenço, Charles M ; Malpas, Timothy J ; Mehta, Sarju G ; Metz, Imke ; Naidu, Sakkubai ; Õunap, Katrin ; Panzer, Axel ; Prabhakar, Prab ; Quaghebeur, Gerardine ; Schiffmann, Raphael ; Sherr, Elliott H ; Sinnathuray, Kanaga R ; Soh, Calvin ; Stewart, Helen S ; Stone, John ; Van Esch, Hilde ; Van Mol, Christine E G ; Vanderver, Adeline ; Wakeling, Emma L ; Whitney, Andrea ; Pavitt, Graham D ; Griffiths-Jones, Sam ; Rice, Gillian I ; Revy, Patrick ; van der Knaap, Marjo S ; Livingston, John H ; O'Keefe, Raymond T ; Crow, Yanick J
Publisher:New York: Nature Publishing Group US
Journal title:Nature genetics, 2016-10, Vol.48 (10), p.1185-1192
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To progress or not to progress: new insights into the evolution of pleuropulmonary blastomas come from studying lung cysts in adolescents and adults with DICER1-related tumour predisposition
Author / Creator:Santoni-Rugiu, Eric
Publisher:England: BMJ Publishing Group Ltd and British Thoracic Society
Journal title:Thorax, 2024-07, Vol.79 (7), p.593-594
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Prevalence of lung cysts in adolescents and adults with a germline DICER1 pathogenic/likely pathogenic variant: a report from the National Institutes of Health and International Pleuropulmonary Blasto...
Author / Creator:Nelson, Alexander T ; Vasta, Lauren M ; Watson, Dave ; Kim, Jung ; Harris, Anne K ; Best, Ana F ; Harney, Laura A ; Carr, Ann G ; Frederickson, Nicole ; Dehner, Louis P ; Kratz, Christian P ; Hagedorn, Kelly N ; Mize, William A ; Ling, Alexander ; Messinger, Yoav H ; Hill, D Ashley ; Schultz, Kris Ann P ; Stewart, Douglas R
Publisher:England: BMJ Publishing Group Ltd and British Thoracic Society
Journal title:Thorax, 2024-07, Vol.79 (7), p.644-651
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ArticlesPeer ReviewedFull Text
Female-specific myoinhibitory peptide neurons regulate mating receptivity in Drosophila melanogaster
Author / Creator:Jang, Yong-Hoon ; Chae, Hyo-Seok ; Kim, Young-Joon
Publisher:London: Nature Publishing Group UK
Journal title:Nature communications, 2017-11, Vol.8 (1), p.1630-12, Article 1630
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Lysine methyltransferase SMYD2 promotes cyst growth in autosomal dominant polycystic kidney disease
Author / Creator:Li, Linda Xiaoyan ; Fan, Lucy X. ; Zhou, Julie Xia ; Grantham, Jared J. ; Calvet, James P. ; Sage, Julien ; Li, Xiaogang
Publisher:United States: American Society for Clinical Investigation
Journal title:The Journal of clinical investigation, 2017-07, Vol.127 (7), p.2751-2764
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Incompletely penetrant PKD1 alleles suggest a role for gene dosage in cyst initiation in polycystic kidney disease
Author / Creator:Rossetti, Sandro ; Kubly, Vickie J. ; Consugar, Mark B. ; Hopp, Katharina ; Roy, Sushmita ; Horsley, Sharon W. ; Chauveau, Dominique ; Rees, Lesley ; Barratt, T. Martin ; van't Hoff, William G. ; Niaudet, W. Patrick ; Torres, Vicente E. ; Harris, Peter C.
Publisher:Basingstoke: Elsevier Inc
Journal title:Kidney international, 2009-04, Vol.75 (8), p.848-855
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The RIPK4–IRF6 signalling axis safeguards epidermal differentiation and barrier function
Author / Creator:Oberbeck, Nina ; Pham, Victoria C. ; Webster, Joshua D. ; Reja, Rohit ; Huang, Christine S. ; Zhang, Yue ; Roose-Girma, Merone ; Warming, Søren ; Li, Qingling ; Birnberg, Andrew ; Wong, Weng ; Sandoval, Wendy ; Kőműves, László G. ; Yu, Kebing ; Dugger, Debra L. ; Maltzman, Allie ; Newton, Kim ; Dixit, Vishva M.
Publisher:London: Nature Publishing Group UK
Journal title:Nature (London), 2019-10, Vol.574 (7777), p.249-253
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Optimized photochemistry enables efficient analysis of dynamic RNA structuromes and interactomes in genetic and infectious diseases
Author / Creator:Zhang, Minjie ; Li, Kongpan ; Bai, Jianhui ; Velema, Willem A. ; Yu, Chengqing ; van Damme, Ryan ; Lee, Wilson H. ; Corpuz, Maia L. ; Chen, Jian-Fu ; Lu, Zhipeng
Publisher:London: Nature Publishing Group UK
Journal title:Nature communications, 2021-04, Vol.12 (1), p.2344-2344, Article 2344
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The Toxoplasma gondii Cyst Wall Protein CST1 Is Critical for Cyst Wall Integrity and Promotes Bradyzoite Persistence
Author / Creator:Tomita, Tadakimi ; Bzik, David J. ; Ma, Yan Fen ; Fox, Barbara A. ; Markillie, Lye Meng ; Taylor, Ronald C. ; Kim, Kami ; Weiss, Louis M.
Publisher:United States: Public Library of Science
Journal title:PLoS pathogens, 2013-12, Vol.9 (12), p.e1003823-e1003823
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Integrated Genotypic Analysis of Hedgehog-Related Genes Identifies Subgroups of Keratocystic Odontogenic Tumor with Distinct Clinicopathological Features
Author / Creator:Shimada, Yasuyuki ; Katsube, Ken-ichi ; Kabasawa, Yuji ; Morita, Kei-ichi ; Omura, Ken ; Yamaguchi, Akira ; Sakamoto, Kei
Publisher:United States: Public Library of Science
Journal title:PloS one, 2013-08, Vol.8 (8), p.e70995-e70995
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Long-read sequencing identifies an SVA_D retrotransposon insertion deep within the intron of ATP7A as a novel cause of occipital horn syndrome
Author / Creator:Yano, Naoko ; Chong, Pin Fee ; Kojima, Kenji K ; Miyoshi, Tomoichiro ; Luqman-Fatah, Ahmad ; Kimura, Yu ; Kora, Kengo ; Kayaki, Taisei ; Maizuru, Kanako ; Hayashi, Takahiro ; Yokoyama, Atsushi ; Ajiro, Masahiko ; Hagiwara, Masatoshi ; Kondo, Teruyuki ; Kira, Ryutaro ; Takita, Junko ; Yoshida, Takeshi
Publisher:England: BMJ Publishing Group Ltd
Journal title:Journal of medical genetics, 2024-10, Vol.61 (10), p.950-958
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Transcriptomic analysis of subarachnoid cysts of Taenia solium reveals mechanisms for uncontrolled proliferation and adaptations to the microenvironment
Author / Creator:Orrego, Miguel A. ; Szczesniak, Michal W. ; Vasquez, Carlos M. ; Verastegui, Manuela R. ; Bustos, Javier A. ; Garcia, Hector H. ; Nash, Theodore E.
Publisher:London: Nature Publishing Group UK
Journal title:Scientific reports, 2024-05, Vol.14 (1), p.11833-11833, Article 11833
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Showing 1 to 20 of 361 results

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Low-grade developmental and epilepsy associated brain tumors: a critical update 2020

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Loss of cilia suppresses cyst growth in genetic models of autosomal dominant polycystic kidney disease

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Isolated polycystic liver disease genes define effectors of polycystin-1 function

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PKD1 and PKD2 mRNA cis-inhibition drives polycystic kidney disease progression

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Pathobiology of inherited biliary diseases: a roadmap to understand acquired liver diseases

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Clinical and genetic features of 334 Asian patients with Birt–Hogg–Dubé syndrome (BHDS) who presented with pulmonary cysts with or without a history of pneumothorax, with special reference to BHDS-ass...

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Multiomic analyses implicate a neurodevelopmental program in the pathogenesis of cerebral arachnoid cysts

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Characterization of Soybean WRKY Gene Family and Identification of Soybean WRKY Genes that Promote Resistance to Soybean Cyst Nematode

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Mutations in SNORD118 cause the cerebral microangiopathy leukoencephalopathy with calcifications and cysts

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To progress or not to progress: new insights into the evolution of pleuropulmonary blastomas come from studying lung cysts in adolescents and adults with DICER1-related tumour predisposition

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Prevalence of lung cysts in adolescents and adults with a germline DICER1 pathogenic/likely pathogenic variant: a report from the National Institutes of Health and International Pleuropulmonary Blasto...

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Female-specific myoinhibitory peptide neurons regulate mating receptivity in Drosophila melanogaster

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Lysine methyltransferase SMYD2 promotes cyst growth in autosomal dominant polycystic kidney disease

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Incompletely penetrant PKD1 alleles suggest a role for gene dosage in cyst initiation in polycystic kidney disease

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The RIPK4–IRF6 signalling axis safeguards epidermal differentiation and barrier function

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Optimized photochemistry enables efficient analysis of dynamic RNA structuromes and interactomes in genetic and infectious diseases

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The Toxoplasma gondii Cyst Wall Protein CST1 Is Critical for Cyst Wall Integrity and Promotes Bradyzoite Persistence

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Integrated Genotypic Analysis of Hedgehog-Related Genes Identifies Subgroups of Keratocystic Odontogenic Tumor with Distinct Clinicopathological Features

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Long-read sequencing identifies an SVA_D retrotransposon insertion deep within the intron of ATP7A as a novel cause of occipital horn syndrome

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Transcriptomic analysis of subarachnoid cysts of Taenia solium reveals mechanisms for uncontrolled proliferation and adaptations to the microenvironment

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