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The Wolfram-like variant WFS1E864K destabilizes MAM and compromises autophagy and mitophagy in human and mice Wolfram样变体WFS1E864K使MAM不稳定并损害人类和小鼠的自噬和线粒体自噬 Patergnani, Simone; Bataillard, Meghane S.; Danese, Alberto; Alves, Stacy; Cazevieille, Chantal; Valero, Rene; Tranebjaerg, Lisbeth; Maurice, Tangui; Pinton, Paolo; Delprat, Benjamin; Richard, Elodie M. 分享 收藏
Whole genome sequencing for USH2A-associated disease reveals several pathogenic deep-intronic variants that are amenable to splice correction Reurink, Janine; Weisschuh, Nicole; Garanto, Alejandro; Dockery, Adrian; van den Born, L. Ingeborgh; Fajardy, Isabelle; Haer-Wigman, Lonneke; Kohl, Susanne; Wissinger, Bernd; Farrar, G. Jane; Ben-Yosef, Tamar; Pfiffner, Fatma Kivrak; Berger, Wolfgang; Weener, Marianna E.; Dudakova, Lubica; Liskova, Petra; Sharon, Dror; Salameh, Manar; Offenheim, Ashley; Heon, Elise; Girotto, Giorgia; Gasparini, Paolo; Morgan, Anna; Bergen, Arthur A.; ten Brink, Jacoline B.; Klaver, Caroline C. W.; Tranebjaerg, Lisbeth; Rendtorff, Nanna D.; Vermeer, Sascha; Smits, Jeroen J.; Pennings, Ronald J. E.; Aben, Marco; Oostrik, Jaap; Astuti, Galuh D. N.; Galbany, Jordi Corominas; Kroes, Hester Y.; Phan, Milan; Zelst-Stams, Wendy A. G. van; Thiadens, Alberta A. H. J.; Verheij, Joke B. G. M.; Schooneveld, Mary J. van; Bruijn, Suzanne E. de; Li, Catherina H. Z.; Hoyng, Carel B.; Gilissen, Christian; Vissers, Lisenka E. L. M.; Cremers, Frans P. M.; Kremer, Hannie; van Wijk, Erwin; Roosing, Susanne 分享 收藏
Mutations in BCOR, a co-repressor of CRX/OTX2, are associated with early-onset retinal degeneration Langouet, Maeva; Jolicoeur, Christine; Javed, Awais; Mattar, Pierre; Gearhart, Micah D.; Daiger, Stephen P.; Bertelsen, Mette; Tranebjaerg, Lisbeth; Rendtorff, Nanna D.; Gronskov, Karen; Jespersgaard, Catherine; Chen, Rui; Sun, Zixi; Li, Hui; Alirezaie, Najmeh; Majewski, Jacek; Bardwell, Vivian J.; Sui, Ruifang; Koenekoop, Robert K.; Cayouette, Michel 分享 收藏
Identification and analysis of deletion breakpoints in four Mohr-TranebjÆrg syndrome (MTS) patients Rendtorff, Nanna Dahl; Karstensen, Helena Gasdal; Lodahl, Marianne; Tolmie, John; McWilliam, Catherine; Bak, Mads; Tommerup, Niels; Nazaryan-Petersen, Lusine; Kunst, Henricus; Wong, Melanie; Joss, Shelagh; Carelli, Valerio; Tranebjaerg, Lisbeth 分享 收藏
A pathogenic deletion in Forkhead Box L1 (FOXL1) identifies the first otosclerosis (OTSC) gene Abdelfatah, Nelly; Mostafa, Ahmed A.; French, Curtis R.; Doucette, Lance P.; Penney, Cindy; Lucas, Matthew B.; Griffin, Anne; Booth, Valerie; Rowley, Christopher; Besaw, Jessica E.; Tranebjaerg, Lisbeth; Rendtorff, Nanna Dahl; Hodgkinson, Kathy A.; Little, Leichelle A.; Agrawal, Sumit; Parnes, Lorne; Batten, Tony; Moore, Susan; Hu, Pingzhao; Pater, Justin A.; Houston, Jim; Galutira, Dante; Benteau, Tammy; MacDonald, Courtney; French, Danielle; O'Rielly, Darren D.; Stanton, Susan G.; Young, Terry-Lynn 分享 收藏
DOORS syndrome and a recurrent truncating ATP6V1B2 variant (Sep, 10.1038/s41436-020-00950-9, 2020) Beauregard-Lacroix, Eliane; Pacheco-Cuellar, Guillermo; Ajeawung, Norbert F.; Tardif, Jessica; Dieterich, Klaus; Dabir, Tabib; Vind-Kezunovic, Dina; White, Susan M.; Zadori, Denes; Castiglioni, Claudia; Tranebjaerg, Lisbeth; Torring, Pernille Mathiesen; Blair, Ed; Wisniewska, Marzena; Camurri, Maria Vittoria; van Bever, Yolande; Molidperee, Sirinart; Taylor, Juliet; Dionne-Laporte, Alexandre; Sisodiya, Sanjay M.; Hennekam, Raoul C. M.; Campeau, Philippe M. 分享 收藏
DOORS syndrome and a recurrent truncatingATP6V1B2variant Beauregard-Lacroix, Eliane; Pacheco-Cuellar, Guillermo; Ajeawung, Norbert F.; Tardif, Jessica; Dieterich, Klaus; Dabir, Tabib; Vind-Kezunovic, Dina; White, Susan M.; Zadori, Denes; Castiglioni, Claudia; Tranebjaerg, Lisbeth; Torring, Pernille Mathiesen; Blair, Ed; Wisniewska, Marzena; Camurri, Maria Vittoria; van Bever, Yolande; Molidperee, Sirinart; Taylor, Juliet; Dionne-Laporte, Alexandre; Sisodiya, Sanjay M.; Hennekam, Raoul C. M.; Campeau, Philippe M. 分享 收藏
Beyond the tubule: pathological variants of LRP2, encoding the megalin receptor, result in glomerular loss and early progressive chronic kidney disease Charlton, Jennifer R.; Tan, Weizhen; Daouk, Ghaleb; Teot, Lisa; Rosen, Seymour; Bennett, Kevin M.; Cwiek, Aleksandra; Nam, Sejin; Emma, Francesco; Jouret, Francois; Oliveira, Joao Paulo; Tranebjaerg, Lisbeth; Frykholm, Carina; Mane, Shrikant; Hildebrandt, Friedhelm; Srivastava, Tarak; Storm, Tina; Christensen, Erik Ilso; Nielsen, Rikke 分享 收藏
Lessons learned from 40 novel PIGA patients and a review of the literature 从40例新的PIGA患者中吸取的经验教训和文献回顾 Bayat, Allan; Knaus, Alexej; Pendziwiat, Manuela; Afenjar, Alexandra; Barakat, Tahsin Stefan; Bosch, Friedrich; Callewaert, Bert; Calvas, Patrick; Ceulemans, Berten; Chassaing, Nicolas; Depienne, Christel; Endziniene, Milda; Ferreira, Carlos R.; Moura de Souza, Carolina Fischinger; Freihuber, Cecile; Ganesan, Shiva; Gataullina, Svetlana; Guerrini, Renzo; Guerrot, Anne-Marie; Hansen, Lars; Jezela-Stanek, Aleksandra; Karsenty, Caroline; Kievit, Anneke; Kooy, Frank R.; Korff, Christian M.; Hansen, Johanne Kragh; Larsen, Martin; Layet, Valerie; Lesca, Gaetan; McBride, Kim L.; Meuwissen, Marije; Mignot, Cyril; Montomoli, Martino; Moore, Hannah; Naudion, Sophie; Nava, Caroline; Nougues, Marie-Christine; Parrini, Elena; Pastore, Matthew; Schelhaas, Jurgen H.; Skinner, Steven; Szczaluba, Krzysztol; Thomas, Ashley; Thomassen, Mads; Tranebjaerg, Lisbeth; van Slegtenhorst, Marjon; Wolfe, Lynne A.; Lal, Dennis; Gardella, Elena; Ousager, Lilian Bomme; Bruenger, Tobias; Helbig, Ingo; Krawitz, Peter; Moller, Rikke S. 分享 收藏
Activating mutations in discoidin domain receptor 2 cause Warburg-Cinotti syndrome Xu, Linda Zi Yan; Jensen, Hanne; Johnston, Jennifer I.; Di Maria, Emilio; Kloth, Katja; Cristea, Ileana; Sapp, Julie C.; Darling, Thomas N.; Huryn, Laryssa A.; Tranebjrg, Lisbeth; Cinotti, Elisa; Kubisch, Christian; Rodahl, Eyvind; Bruland, Ove; Biesecker, Leslie G.; Houge, Gunnar; Bredrup, Cecilie 分享 收藏
Functional assessment of variants associated with Wolfram syndrome Riachi, Melissa; Yilmaz, Sebahat; Kurnaz, Erdal; Aycan, Zehra; Cetinkaya, Semra; Tranebjaerg, Lisbeth; Rendtorff, Nanna Dahl; Bitner-Glindzicz, Maria; Bockenhauer, Detlef; Hussain, Khalid 分享 收藏
Oral therapy for riboflavin transporter deficiency - What is the regimen of choice? Gorcenco, Sorina; Vaz, Frederic M.; Tracewska-Siemiatkowska, Anna; Tranebjaerg, Lisbeth; Cremers, Frans P. M.; Ygland, Emil; Kicsi, Jeno; Rendtorff, Nanna Dahl; Moller, Claes; Kjellstrom, Ulrika; Andreasson, Sten; Puschmann, Andreas 分享 收藏
Recurrent, Activating Variants in the Receptor Tyrosine Kinase DDR2 Cause Warburg-Cinotti Syndrome Xu, Linda; Jensen, Hanne; Johnston, Jennifer J.; Di Maria, Emilio; Kloth, Katja; Cristea, Ileana; Sapp, Julie C.; Darling, Thomas N.; Huryn, Laryssa A.; Tranebjaerg, Lisbeth; Cinotti, Elisa; Kubisch, Christian; Rodahl, Eyvind; Bruland, Ove; Biesecker, Leslie G.; Houge, Gunnar; Bredrup, Cecilie 分享 收藏
The CAPOS mutation in ATP1A3 alters Na/K-ATPase function and results in auditory neuropathy which has implications for management (vol 137, pg 111, 2018) Tranebjaerg, Lisbeth; Strenzke, Nicola; Lindholm, Sture; Rendtorff, Nanna D.; Poulsen, Hanne; Khandelia, Himanshu; Kopec, Wojciech; Lyngbye, Troels J. Brunnich; Hamel, Christian; Delettre, Cecile; Bocquet, Beatrice; Bille, Michael; Owen, Hanne H.; Bek, Toke; Jensen, Hanne; Ostergaard, Karen; Moller, Claes; Luxon, Linda; Carr, Lucinda; Wilson, Louise; Rajput, Kaukab; Sirimanna, Tony; Harrop-Griffiths, Katherine; Rahman, Shamima; Vona, Barbara; Doll, Julia; Haaf, Thomas; Bartsch, Oliver; Rosewich, Hendrik; Moser, Tobias; Bitner-Glindzicz, Maria 分享 收藏
The CAPOS mutation in ATP1A3 alters Na/K-ATPase function and results in auditory neuropathy which has implications for management Tranebjaerg, Lisbeth; Strenzke, Nicola; Lindholm, Sture; Rendtorff, Nanna D.; Poulsen, Hanne; Khandelia, Himanshu; Kopec, Wojciech; Lyngbye, Troels J. Brunnich; Hamel, Christian; Delettre, Cecile; Bocquet, Beatrice; Bille, Michael; Owen, Hanne H.; Bek, Toke; Jensen, Hanne; Ostergaard, Karen; Moller, Claes; Luxon, Linda; Carr, Lucinda; Wilson, Louise; Rajput, Kaukab; Sirimanna, Tony; Harrop-Griffiths, Katherine; Rahman, Shamima; Vona, Barbara; Doll, Julia; Haaf, Thomas; Bartsch, Oliver; Rosewich, Hendrik; Moser, Tobias; Bitner-Glindzicz, Maria 分享 收藏
A common SLC26A4-linked haplotype underlying non-syndromic hearing loss with enlargement of the vestibular aqueduct Chattaraj, Parna; Munjal, Tina; Honda, Keiji; Rendtorff, Nanna D.; Ratay, Jessica S.; Muskett, Julie A.; Risso, Davide S.; Roux, Isabelle; Gertz, E. Michael; Schaffer, Alejandro A.; Friedman, Thomas B.; Morell, Robert J.; Tranebjaerg, Lisbeth; Griffith, Andrew J. 分享 收藏
Monogenic diabetes syndromes: Locus-specific databases for Alstrom, Wolfram, and Thiamine-responsive megaloblastic anemia Astuti, Dewi; Sabir, Ataf; Fulton, Piers; Zatyka, Malgorzata; Williams, Denise; Hardy, Carol; Milan, Gabriella; Favaretto, Francesca; Yu-Wai-Man, Patrick; Rohayem, Julia; Lopez de Heredia, Miguel; Hershey, Tamara; Tranebjaerg, Lisbeth; Chen, Jian-Hua; Chaussenot, Annabel; Nunes, Virginia; Marshall, Bess; McAfferty, Susan; Tillmann, Vallo; Maffei, Pietro; Paquis-Flucklinger, Veronique; Geberhiwot, Tarekign; Mlynarski, Wojciech; Parkinson, Kay; Picard, Virginie; Esteban Bueno, Gema; Dias, Renuka; Arnold, Amy; Richens, Caitlin; Paisey, Richard; Urano, Fumihiko; Semple, Robert; Sinnott, Richard; Barrett, Timothy G. 分享 收藏
Functional validation of ABHD12 mutations in the neurodegenerative disease PHARC Tingaud-Sequeira, Angele; Raldua, Demetrio; Lavie, Julie; Mathieu, Guilaine; Bordier, Magali; Knoll-Gellida, Anja; Rambeau, Pierre; Coupry, Isabelle; Andre, Michele; Malm, Eva; Moller, Claes; Andreasson, Sten; Rendtorff, Nanna D.; Tranebjaerg, Lisbeth; Koenig, Michel; Lacombe, Didier; Goizet, Cyril; Babin, Patrick J. 分享 收藏
Phenotypic subregions within the split-hand/foot malformation 1 locus Rasmussen, Malene B.; Kreiborg, Sven; Jensen, Per; Bak, Mads; Mang, Yuan; Lodahl, Marianne; Budtz-Jorgensen, Esben; Tommerup, Niels; Tranebjaerg, Lisbeth; Rendtorff, Nanna D. 分享 收藏
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