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1.

Protein therapeutics and their lessons: Expect the unexpected when inhibiting the multi-protein cascade of the complement system.

Schmidt, Christoph Q; Smith, Richard J H.

Immunol Rev; 313(1): 376-401, 2023 01.

Artículo en Inglés | MEDLINE | ID: mdl-36398537

2.

Renin and renin blockade have no role in complement activity.

Zhang, Yuzhou; Martin, Bertha; Spies, M Ashley; Roberts, Sarah M; Nott, Joel; Goodfellow, Renee X; Nelson, Angela F M; Blain, Samantha J; Redondo, Elena; Nester, Carla M; Smith, Richard J H.

Kidney Int; 105(2): 328-337, 2024 Feb.

Artículo en Inglés | MEDLINE | ID: mdl-38008161

3.

The natural history and genotype-phenotype correlations of TMPRSS3 hearing loss: an international, multi-center, cohort analysis.

Colbert, Brett M; Lanting, Cris; Smeal, Molly; Blanton, Susan; Dykxhoorn, Derek M; Tang, Pei-Ciao; Getchell, Richard L; Velde, Hedwig; Fehrmann, Mirthe; Thorpe, Ryan; Chapagain, Prem; Elkhaligy, Heidy; Kremer, Hannie; Yntema, Helger; Haer-Wigman, Lonneke; Redfield, Shelby; Sun, Tieqi; Bruijn, Saskia; Plomp, Astrid; Goderie, Thadé; van de Kamp, Jiddeke; Free, Rolien H; Wassink-Ruiter, Jolien Klein; Widdershoven, Josine; Vanhoutte, Els; Rotteveel, Liselotte; Kriek, Marjolein; van Dooren, Marieke; Hoefsloot, Lies; de Gier, Heriette H W; Schaefer, Amanda; Kolbe, Diana; Azaiez, Hela; Rabie, Grace; Aburayyan, Armal; Kawas, Mariana; Kanaan, Moien; Holder, Jourdan; Usami, Shin-Ichi; Chen, Zhengyi; Dai, Pu; Holt, Jeffrey; Nelson, Rick; Choi, Byung Yoon; Shearer, Eliot; Smith, Richard J H; Pennings, Ronald; Liu, Xue Zhong.

Hum Genet; 2024 Apr 30.

Artículo en Inglés | MEDLINE | ID: mdl-38691166

4.

Assessing variants of uncertain significance implicated in hearing loss using a comprehensive deafness proteome.

Tollefson, Mallory R; Gogal, Rose A; Weaver, A Monique; Schaefer, Amanda M; Marini, Robert J; Azaiez, Hela; Kolbe, Diana L; Wang, Donghong; Weaver, Amy E; Casavant, Thomas L; Braun, Terry A; Smith, Richard J H; Schnieders, Michael J.

Hum Genet; 142(6): 819-834, 2023 Jun.

Artículo en Inglés | MEDLINE | ID: mdl-37086329

5.

Haemolytic uraemic syndrome.

Michael, Mini; Bagga, Arvind; Sartain, Sarah E; Smith, Richard J H.

Lancet; 400(10364): 1722-1740, 2022 11 12.

Artículo en Inglés | MEDLINE | ID: mdl-36272423

6.

Functional characterization of 105 factor H variants associated with aHUS: lessons for variant classification.

Martín Merinero, Hector; Zhang, Yuzhou; Arjona, Emilia; Del Angel, Guillermo; Goodfellow, Renee; Gomez-Rubio, Elena; Ji, Rui-Ru; Michelena, Malkoa; Smith, Richard J H; Rodríguez de Córdoba, Santiago.

Blood; 138(22): 2185-2201, 2021 12 02.

Artículo en Inglés | MEDLINE | ID: mdl-34189567

7.

Advances in cochlear gene therapies.

Klimara, Miles J; Smith, Richard J H.

Curr Opin Pediatr; 35(6): 631-640, 2023 12 01.

Artículo en Inglés | MEDLINE | ID: mdl-37417821

8.

C3 glomerulopathy: Understanding an ultra-rare complement-mediated renal disease.

Heiderscheit, Amanda K; Hauer, Jill J; Smith, Richard J H.

Am J Med Genet C Semin Med Genet; 190(3): 344-357, 2022 09.

Artículo en Inglés | MEDLINE | ID: mdl-35734939

9.

Genetic diagnosis and renal biopsy findings in the setting of a renal genetics clinic.

Ben Moshe, Yishay; Bekheirnia, Nasim; Smith, Richard J H; Hicks, John; Braun, Michael C; Bekheirnia, Mir Reza.

Am J Med Genet C Semin Med Genet; 190(3): 302-308, 2022 09.

Artículo en Inglés | MEDLINE | ID: mdl-36239278

10.

Results from a nationwide retrospective cohort measure the impact of C3 and soluble C5b-9 levels on kidney outcomes in C3 glomerulopathy.

Chauvet, Sophie; Hauer, Jill J; Petitprez, Florent; Rabant, Marion; Martins, Paula Vieira; Baudouin, Véronique; Delmas, Yahsou; Jourde-Chiche, Noémie; Cez, Alexandre; Ribes, David; Cloarec, Sylvie; Servais, Aude; Zaidan, Mohamad; Daugas, Eric; Delahousse, Michel; Wynckel, Alain; Ryckewaert, Amélie; Sellier-Leclerc, Anne Laure; Boyer, Olivia; Thervet, Eric; Karras, Alexandre; Smith, Richard J H; Frémeaux-Bacchi, Véronique.

Kidney Int; 102(4): 904-916, 2022 10.

Artículo en Inglés | MEDLINE | ID: mdl-35752323

11.

AudioGene: refining the natural history of KCNQ4, GSDME, WFS1, and COCH-associated hearing loss.

Thorpe, Ryan K; Walls, W Daniel; Corrigan, Rae; Schaefer, Amanda; Wang, Kai; Huygen, Patrick; Casavant, Thomas L; Smith, Richard J H.

Hum Genet; 141(3-4): 877-887, 2022 Apr.

Artículo en Inglés | MEDLINE | ID: mdl-35038006

12.

DVPred: a disease-specific prediction tool for variant pathogenicity classification for hearing loss.

Bu, Fengxiao; Zhong, Mingjun; Chen, Qinyi; Wang, Yumei; Zhao, Xia; Zhang, Qian; Li, Xiarong; Booth, Kevin T; Azaiez, Hela; Lu, Yu; Cheng, Jing; Smith, Richard J H; Yuan, Huijun.

Hum Genet; 141(3-4): 401-411, 2022 Apr.

Artículo en Inglés | MEDLINE | ID: mdl-35182233

13.

The natural history of OTOF-related auditory neuropathy spectrum disorders: a multicenter study.

Thorpe, Ryan K; Azaiez, Hela; Wu, Peina; Wang, Qiuju; Xu, Lei; Dai, Pu; Yang, Tao; Schaefer, G Bradley; Peters, B Robert; Chan, Kenny H; Schatz, Krista S; Bodurtha, Joann; Robin, Nathaniel H; Hirsch, Yoel; Rahbeeni, Zuhair Abdalla; Yuan, Huijun; Smith, Richard J H.

Hum Genet; 141(3-4): 853-863, 2022 Apr.

Artículo en Inglés | MEDLINE | ID: mdl-34424407

14.

De novo variants are a common cause of genetic hearing loss.

Klimara, Miles J; Nishimura, Carla; Wang, Donghong; Kolbe, Diana L; Schaefer, Amanda M; Walls, William D; Frees, Kathy L; Smith, Richard J H; Azaiez, Hela.

Genet Med; 24(12): 2555-2567, 2022 12.

Artículo en Inglés | MEDLINE | ID: mdl-36194208

15.

Improving Clinical Trials for Anticomplement Therapies in Complement-Mediated Glomerulopathies: Report of a Scientific Workshop Sponsored by the National Kidney Foundation.

Bomback, Andrew S; Appel, Gerald B; Gipson, Debbie S; Hladunewich, Michelle A; Lafayette, Richard; Nester, Carla M; Parikh, Samir V; Smith, Richard J H; Trachtman, Howard; Heeger, Peter S; Ram, Sanjay; Rovin, Brad H; Ali, Shadab; Arceneaux, Nicole; Ashoor, Isa; Bailey-Wickins, Laura; Barratt, Jonathan; Beck, Laurence; Cattran, Daniel C; Cravedi, Paolo; Erkan, Elif; Fervenza, Fernando; Frazer-Abel, Ashley A; Fremeaux-Bacchi, Veronique; Fuller, Lindsey; Gbadegesin, Rasheed; Hogan, Jonathan J; Kiryluk, Krzysztof; le Quintrec-Donnette, Moglie; Licht, Christoph; Mahan, John D; Pickering, Matthew C; Quigg, Richard; Rheault, Michelle; Ronco, Pierre; Sarwal, Minnie M; Sethna, Christine; Spino, Cathie; Stegall, Mark; Vivarelli, Marina; Feldman, David L; Thurman, Joshua M.

Am J Kidney Dis; 79(4): 570-581, 2022 04.

Artículo en Inglés | MEDLINE | ID: mdl-34571062

16.

Small-molecule factor B inhibitor for the treatment of complement-mediated diseases.

Schubart, Anna; Anderson, Karen; Mainolfi, Nello; Sellner, Holger; Ehara, Takeru; Adams, Christopher M; Mac Sweeney, Aengus; Liao, Sha-Mei; Crowley, Maura; Littlewood-Evans, Amanda; Sarret, Sophie; Wieczorek, Grazyna; Perrot, Ludovic; Dubost, Valérie; Flandre, Thierry; Zhang, Yuzhou; Smith, Richard J H; Risitano, Antonio M; Karki, Rajeshri G; Zhang, Chun; Valeur, Eric; Sirockin, Finton; Gerhartz, Bernd; Erbel, Paulus; Hughes, Nicola; Smith, Thomas M; Cumin, Frederic; Argikar, Upendra A; Haraldsson, Börje; Mogi, Muneto; Sedrani, Richard; Wiesmann, Christian; Jaffee, Bruce; Maibaum, Jürgen; Flohr, Stefanie; Harrison, Richard; Eder, Jörg.

Proc Natl Acad Sci U S A; 116(16): 7926-7931, 2019 04 16.

Artículo en Inglés | MEDLINE | ID: mdl-30926668

17.

Gene therapy for hearing loss.

Omichi, Ryotaro; Shibata, Seiji B; Morton, Cynthia C; Smith, Richard J H.

Hum Mol Genet; 28(R1): R65-R79, 2019 10 01.

Artículo en Inglés | MEDLINE | ID: mdl-31227837

18.

A biallelic variant in CLRN2 causes non-syndromic hearing loss in humans.

Vona, Barbara; Mazaheri, Neda; Lin, Sheng-Jia; Dunbar, Lucy A; Maroofian, Reza; Azaiez, Hela; Booth, Kevin T; Vitry, Sandrine; Rad, Aboulfazl; Rüschendorf, Franz; Varshney, Pratishtha; Fowler, Ben; Beetz, Christian; Alagramam, Kumar N; Murphy, David; Shariati, Gholamreza; Sedaghat, Alireza; Houlden, Henry; Petree, Cassidy; VijayKumar, Shruthi; Smith, Richard J H; Haaf, Thomas; El-Amraoui, Aziz; Bowl, Michael R; Varshney, Gaurav K; Galehdari, Hamid.

Hum Genet; 140(6): 915-931, 2021 Jun.

Artículo en Inglés | MEDLINE | ID: mdl-33496845

19.

Genomic Landscape and Mutational Signatures of Deafness-Associated Genes.

Azaiez, Hela; Booth, Kevin T; Ephraim, Sean S; Crone, Bradley; Black-Ziegelbein, Elizabeth A; Marini, Robert J; Shearer, A Eliot; Sloan-Heggen, Christina M; Kolbe, Diana; Casavant, Thomas; Schnieders, Michael J; Nishimura, Carla; Braun, Terry; Smith, Richard J H.

Am J Hum Genet; 103(4): 484-497, 2018 10 04.

Artículo en Inglés | MEDLINE | ID: mdl-30245029

20.

Mutation of complement factor B causing massive fluid-phase dysregulation of the alternative complement pathway can result in atypical hemolytic uremic syndrome.

Zhang, Yuzhou; Kremsdorf, Robin A; Sperati, C John; Henriksen, Kammi J; Mori, Mari; Goodfellow, Renee X; Pitcher, Gabriella R; Benson, Cindy L; Borsa, Nicolo Ghiringhelli; Taylor, Ronald P; Nester, Carla M; Smith, Richard J H.

Kidney Int; 98(5): 1265-1274, 2020 11.

Artículo en Inglés | MEDLINE | ID: mdl-32540405

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