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Long-acting parathyroid hormone receptor agonist rectifies hypocalcemia in autosomal dominant hypocalcemia type 1 mice Hannan, Fadil M.; Stevenson, Mark; Elajnaf, Taha; Rostom, Hussam; Lines, Kate E.; Stewart, Michelle; Wells, Sara; Moir, Lee; Gardella, Thomas J.; Thakker, Rajesh V. Share Save
Establishing standardized transthoracic echocardiography reference ranges for mouse models: insights into the impact of anesthesia, sex, and age Oestereicher, Manuela A.; Ward, Christopher S.; Schneltzer, Elida; Marschall, Susan; Fuchs, Helmut; Gailus-Durner, Valerie; Bou About, Ghina; Selloum, Mohammed; Meziane, Hamid; Stewart, Michelle; Teboul, Lydia; Norris, Clare; Pimm, Dale; Kan, Marina; Lopez Gomez, Federico; Wilson, Robert; Monroy, Mayra; Pasha, Sheraz; Zabrodska, Eva; Prochazka, Jan; Pajuelo Reguera, David; Nichtova, Zuzana; Herault, Yann; Wells, Sara; Parkinson, Helen; Heaney, Jason D.; Sedlacek, Radislav; Gao, Xiang; Hrabe de Angelis, Martin; Spielmann, Nadine Share Save
Modelling POLG mutations in mice unravels a critical role of POLγΒ in regulating phenotypic severity Corra, Samantha; Zuppardo, Alessandro; Valenzuela, Sebastian; Jenninger, Louise; Cerutti, Raffaele; Sillamaa, Sirelin; Hoberg, Emily; Johansson, Katarina A. S.; Rovsnik, Urska; Volta, Sara; Silva-Pinheiro, Pedro; Davis, Hannah; Trifunovic, Aleksandra; Minczuk, Michal; Gustafsson, Claes M.; Suomalainen, Anu; Zeviani, Massimo; Macao, Bertil; Zhu, Xuefeng; Falkenberg, Maria; Viscomi, Carlo Share Save
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Characterization of quinazolinone calcilytic therapy for autosomal dominant hypocalcemia type 1 (ADH1) Hannan, Fadil M.; Kooblall, Kreepa G.; Stevenson, Mark; Elajnaf, Taha; Liu, Fangyu; Lines, Kate E.; Meng, Xin; Stewart, Michelle; Wells, Sara; Nemeth, Edward F.; Shoichet, Brian K.; Kneissel, Michaela; Gasser, Juerg A.; Thakker, Rajesh, V Share Save
Systematic ocular phenotyping of 8,707 knockout mouse lines identifies genes associated with abnormal corneal phenotypes Vo, Peter; Imai-Leonard, Denise M.; Yang, Benjamin; Briere, Andrew; Shao, Andy; Casanova, M. Isabel; Adams, David; Amano, Takanori; Amarie, Oana; Berberovic, Zorana; Bower, Lynette; Braun, Robert; Brown, Steve; Burrill, Samantha; Cho, Soo Young; Clementson-Mobbs, Sharon; D'Souza, Abigail; Dickinson, Mary; Eskandarian, Mohammad; Flenniken, Ann M.; Fuchs, Helmut; Gailus-Durner, Valerie; Heaney, Jason; Herault, Yann; de Angelis, Martin Hrabe; Hsu, Chih-Wei; Jin, Shundan; Joynson, Russell; Kang, Yeon Kyung; Kim, Haerim; Masuya, Hiroshi; Meziane, Hamid; Murray, Steve; Nam, Ki-Hoan; Noh, Hyuna; Nutter, Lauryl M. J.; Palkova, Marcela; Prochazka, Jan; Raishbrook, Miles Joseph; Riet, Fabrice; Ryan, Jennifer; Salazar, Jason; Seavey, Zachery; Seavitt, John Richard; Sedlacek, Radislav; Selloum, Mohammed; Seo, Kyoung Yul; Seong, Je Kyung; Shin, Hae-Sol; Shiroishi, Toshihiko; Stewart, Michelle; Svenson, Karen; Tamura, Masaru; Tolentino, Heather; Udensi, Uchechukwu; Wells, Sara; White, Jacqueline; Willett, Amelia; Wotton, Janine; Wurst, Wolfgang; Yoshiki, Atsushi; Int Mouse Phenotyping Consortium, Louise; Lanoue, Louise; Lloyd, K. C. Kent; Leonard, Brian C.; Roux, Michel J.; McKerlie, Colin; Moshiri, Ala Share Save
Gonadal sex reversal at single-cell resolution in Znrf3-deficient mice Kay, Raissa G. G.; Reeves, Richard; Siggers, Pam; Greenaway, Simon; Mallon, Ann-Marie; Wells, Sara; Koo, Bon-Kyoung; Mayere, Chloe; Nef, Serge; Greenfield, Andy; Simon, Michelle M. Share Save
TDP-43-M323K causes abnormal brain development and progressive cognitive and motor deficits associated with mislocalised and increased levels of TDP-43 (vol 193, 106437, 2024) Godoy-Corchuelo, Juan M.; Ali, Zeinab; Armas, Jose M. Brito; Martins-Bach, Aurea B.; Garcia-Toledo, Irene; Fernandez-Beltran, Luis C.; Lopez-Carbonero, Juan I.; Bascunana, Pablo; Spring, Shoshana; Jimenez-Coca, Irene; Alfaro, Ramon A. Munozde Bustillo; Sanchez-Barrena, Maria J.; Nair, Remya R.; Nieman, Brian J.; Lerch, Jason P.; Miller, Karla L.; Ozdinler, Hande P.; Fisher, Elizabeth M. C.; Cunningham, Thomas J.; Acevedo-Arozena, Abraham; Corrochano, Silvia Share Save
Impact of essential genes on the success of genome editing experiments generating 3313 new genetically engineered mouse lines Elrick, Hillary; Peterson, Kevin A.; Willis, Brandon J.; Lanza, Denise G.; Acar, Elif F.; Ryder, Edward J.; Teboul, Lydia; Kasparek, Petr; Birling, Marie-Christine; Adams, David J.; Bradley, Allan; Braun, Robert E.; Brown, Steve D.; Caulder, Adam; Codner, Gemma F.; Demayo, Francesco J.; Dickinson, Mary E.; Doe, Brendan; Duddy, Graham; Gertsenstein, Marina; Goodwin, Leslie O.; Herault, Yann; Lintott, Lauri G.; Lloyd, K. C. Kent; Lorenzo, Isabel; Mackenzie, Matthew; Mallon, Ann-Marie; Mckerlie, Colin; Parkinson, Helen; Ramirez-Solis, Ramiro; Seavitt, John R.; Sedlacek, Radislav; Skarnes, William C.; Smedley, Damien; Wells, Sara; White, Jacqueline K.; Wood, Joshua A.; Akhtar, Shaheen; Allan, Alasdair J.; Allen, Susan; Andre, Philippe; Archer, Daniel; Atkins, Sarah; Avery, Ruth; Ayadi, Abdel; Barrett, Daniel; Beyetinova, Tanya; Bell, Toni; Berry, Melissa; Boroviak, Katharina; Bottomley, Joanna; Brendler-Spaeth, Tim; Brown, Ellen; Burvill, Jonathan; Bussell, James; Cardeno, Charis; Carter, Rebecca V.; Castellanos-Penton, Patricia; Christou, Skevoulla; Clark, Greg; Clarke, Shannon; Cleak, James; Crawford, Ronnie; Creighton, Amie; Cruz, Maribelle; Danisment, Ozge; Davis, Charlotte; Doran, Joanne; Erbs, Valerie; Fan-Lan, Qing; Fell, Rachel; Feng, He; Fougerolle, Jean-Victor; Fower, Alex; Frake, Gemma; Fray, Martin D.; Galli, Antonella; Gannon, David; Gardiner, Wendy J.; Gaspero, Angelina; Gleeson, Diane; Godbehere, Chris; Grau, Evelyn; Griffiths, Mark; Griggs, Nicola; Grimsrud, Kristin; Hazeltine, Sarah; Hutchison, Marie; Ingle, Catherine; Iyer, Vivek; Jager, Kayla; Joeng, Joanna; Kales, Susan; Kaur, Perminder; Kenyon, Janet; Kopkanova, Jana; Kujath, Christelle; Kundi, Helen; Kutny, Peter; Laurin, Valerie; Lejeay, Sandrine; Lelliott, Christopher; Loeffler, Jorik; Lorentz, Romain; Mccabe, Christopher V.; Malzer, Elke; Matthews, Peter; Maswood, Ryea; Mckay, Matthew; Meehan, Terrence; Melvin, David; Murphy, Alison; Nakhuda, Asif; Patel, Amit; Paulavets, Ilya; Pavlovic, Guillaume; Pawelka, Ashley; Pike, Fran J.; Platte, Radka; Price, Peter D.; Rajaya, Kiran; Reddy, Shalini; Rich, Whitney; Rosen, Barry; Ross, Victoria; Ruhe, Mark; Santos, Luis; Schaeffer, Laurence; Schwiening, Alix; Selloum, Mohammed; Sethi, Debarati; Sidiangco, Jan R.; Sinclair, Caroline; Sins, Elodie; Sleep, Gillian; Sorg, Tania; Starbuck, Becky; Stewart, Michelle; Swash, Holly; Thomas, Mark; Tondat, Sandra; Urban, Rachel; Urbanova, Jana; Varley, Susan; Von Schiller, Dominque; Wardle-Jones, Hannah; Weavers, Lauren; Woods, Michael; Murray, Stephen A.; Heaney, Jason D.; Nutter, Lauryl M. J. Share Save
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Improving laboratory animal genetic reporting: LAG-R guidelines Teboul, Lydia; Amos-Landgraf, James; Benavides, Fernando J.; Birling, Marie-Christine; Brown, Steve D. M.; Bryda, Elizabeth; Bunton-Stasyshyn, Rosie; Chin, Hsian-Jean; Crispo, Martina; Delerue, Fabien; Dobbie, Michael; Franklin, Craig L.; Fuchtbauer, Ernst-Martin; Gao, Xiang; Golzio, Christelle; Haffner, Rebecca; Herault, Yann; Hrabe de Angelis, Martin; Lloyd, Kevin C. Kent; Magnuson, Terry R.; Montoliu, Lluis; Murray, Stephen A.; Nam, Ki-Hoan; Nutter, Lauryl M. J.; Pailhoux, Eric; Pardo Manuel de Villena, Fernando; Peterson, Kevin; Reinholdt, Laura; Sedlacek, Radislav; Seong, Je Kyung; Shiroishi, Toshihiko; Smith, Cynthia; Takeo, Toru; Tinsley, Louise; Vilotte, Jean-Luc; Warming, Soren; Wells, Sara; Whitelaw, C. Bruce; Yoshiki, Atsushi; Wang, Chi-Kuang; Marvel, Jacqueline; Zarubica, Ana; Heaney, Jason; Korf, Ian F.; Lutz, Cathleen (Cat); Kueh, Andrew J.; Thomas, Paul Q.; Arkell, Ruth M.; Mann, Graham J.; Pavlovic, Guillaume Share Save
Identification of cellular retinoic acid binding protein 2 (CRABP2) as downstream target of nuclear factor I/X (NFIX): implications for skeletal dysplasia syndromes Kooblall, Kreepa G.; Stevenson, Mark; Heilig, Raphael; Stewart, Michelle; Wright, Benjamin; Lockstone, Helen; Buck, David; Fischer, Roman; Wells, Sara; Lines, Kate E.; Teboul, Lydia; Hennekam, Raoul C.; Thakker, Rajesh, V Share Save
TDP-43-M323K causes abnormal brain development and progressive cognitive and motor deficits associated with mislocalised and increased levels of TDP-43 Godoy-Corchuelo, Juan M.; Ali, Zeinab; Armas, Jose M. Brito; Martins-Bach, Aurea B.; Garcia-Toledo, Irene; Fernandez-Beltran, Luis C.; Lopez-Carbonero, Juan I.; Bascunana, Pablo; Spring, Shoshana; Jimenez-Coca, Irene; Alfare, Ramon A. Munoz de Bustillo; Sanchez-Barrena, Maria J.; Nair, Remya R.; Nieman, Brian J.; Lerch, Jason P.; Miller, Karla L.; Ozdinler, Hande P.; Fisher, Elizabeth M. C.; Cunningham, Thomas J.; Acevedo-Arozena, Abraham; Corrochano, Silvia Share Save
Long-read sequencing for fast and robust identification of correct genome-edited alleles: PCR-based and Cas9 capture methods McCabe, Christopher V.; Price, Peter D.; Codner, Gemma F.; Allan, Alasdair J.; Caulder, Adam; Christou, Skevoulla; Loeffler, Jorik; Mackenzie, Matthew; Malzer, Elke; Mianne, Joffrey; Nowicki, Krystian J.; O'Neill, Edward J.; Pike, Fran J.; Hutchison, Marie; Petit-Demouliere, Benoit; Stewart, Michelle E.; Gates, Hilary; Wells, Sara; Sanderson, Nicholas D.; Teboul, Lydia Share Save
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PKD1L1 Is Involved in Congenital Chylothorax Whitchurch, Jonathan B.; Schneider, Sophia; Hilger, Alina C.; Koellges, Ricarda; Stegmann, Jil D.; Waffenschmidt, Lea; Dyer, Laura; Thiele, Holger; Dhabhai, Bhanupriya; Dakal, Tikam Chand; Mueller, Andreas; Norris, Dominic P.; Reutter, Heiko M.; Poller, Wolfgang Share Save
Misfolding of fukutin-related protein (FKRP) variants in congenital and limb girdle muscular dystrophies Esapa, Christopher T.; Mcilhinney, R. A. Jeffrey; Waite, Adrian J.; Benson, Matthew A.; Mirzayan, Jasmin; Piko, Henriett; Herczegfalvi, Agnes; Horvath, Rita; Karcagi, Veronika; Walter, Maggie C.; Lochmueller, Hanns; Rizkallah, Pierre J.; Lu, Qi L.; Blake, Derek J. Share Save
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Mutation in the FUS nuclear localisation signal domain causes neurodevelopmental and systemic metabolic alterations Ali, Zeinab; Godoy-Corchuelo, Juan M.; Martins-Bach, Aurea B.; Garcia-Toledo, Irene; Fernandez-Beltran, Luis C.; Nair, Remya R.; Spring, Shoshana; Nieman, Brian J.; Jimenez-Coca, Irene; Bains, Rasneer S.; Forrest, Hamish; Lerch, Jason P.; Miller, Karla L.; Fisher, Elizabeth M. C.; Cunningham, Thomas J.; Corrochano, Silvia Share Save
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