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mTOR pathway diseases: challenges and opportunities from bench to bedside and the mTOR node mTOR通路疾病：从实验室到临床的挑战与机遇及mTOR节点 Mantoan Ritter, Laura; Annear, Nicholas M. P.; Baple, Emma L.; Ben-Chaabane, Leila Y.; Bodi, Istvan; Brosson, Lauren; Cadwgan, Jill E.; Coslett, Bryn; Crosby, Andrew H.; Davies, D. Mark; Daykin, Nicola; Dedeurwaerdere, Stefanie; Duehring Fenger, Christina; Dunlop, Elaine A.; Elmslie, Frances V.; Girodengo, Marie; Hambleton, Sophie; Jansen, Anna C.; Johnson, Simon R.; Kearley, Kelly C.; Kingswood, John C.; Laaniste, Liisi; Lachlan, Katherine; Latchford, Andrew; Madsen, Ralitsa R.; Mansour, Sahar; Mihaylov, Simeon R.; Muhammed, Louwai; Oliver, Claire; Pepper, Tom; Rawlins, Lettie E.; Schim van der Loeff, Ina; Siddiqui, Ata; Takhar, Pooja; Tatton-Brown, Katrina; Tee, Andrew R.; Tibarewal, Priyanka; Tye, Charlotte; Ultanir, Sila K.; Vanhaesebroeck, Bart; Zare, Benjamin; Pal, Deb K.; Bateman, Joseph M. 分享 收藏
Bi-allelic UGGT1 variants cause a congenital disorder of glycosylation 双等位UGGT1变异导致先天性糖基化障碍 Dardas, Z; Harrold, L; Calame, DG; Salter, CG; Kikuma, T; Guay, KP; Ng, BG; Sano, K; Saad, AK; Du, HW; Sangermano, R; Patankar, SG; Jhangiani, SN; Gürsoy, S; Abdel-Hamid, MS; Ahmed, MKH; Maroofian, R; Kaiyrzhanov, R; Salayev, K; Jones, WD; Caballero, AP; McGavin, L; Spiller, M; Durkie, M; Wood, N; O'Grady, L; Goldenberg, P; Neumeyer, AM; Begtrup, A; Abdel-Ghafar, SF; Zaki, MS; Van Esch, H; Posey, JE; Wenger, OK; Scott, EM; Bujakowska, KM; Gibbs, RA; Pehlivan, D; Marafi, D; Leslie, JS; Ubeyratna, N; Day, J; Owens, M; Settle, J; Balkhy, S; Tamim, A; Alabdi, L; Alkuraya, FS; Takeda, Y; Freeze, HH; Hebert, DN; Lupski, JR; Crosby, AH; Baple, EL 分享 收藏
Biallelic Variants in MNS1 Are Associated with Laterality Defects and Respiratory Involvement Hjeij, Rim; Leslie, Joseph; Rizk, Hoda; Dworniczak, Bernd; Olbrich, Heike; Raidt, Johanna; Bode, Sebastian Felix Nepomuk; Gardham, Alice; Stals, Karen; Al-Haggar, Mohammad; Osman, Engy; Crosby, Andrew; Eldesoky, Tarek; Baple, Emma; Omran, Heymut 分享 收藏
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SLC4A10 mutation causes a neurological disorder associated with impaired GABAergic transmission Fasham, James; Huebner, Antje K.; Liebmann, Lutz; Khalaf-Nazzal, Reham; Maroofian, Reza; Kryeziu, Nderim; Wortmann, Saskia B.; Leslie, Joseph S.; Ubeyratna, Nishanka; Mancini, Grazia M. S.; van Slegtenhorst, Marjon; Wilke, Martina; Haack, Tobias B.; Shamseldin, Hanan E.; Gleeson, Joseph G.; Almuhaizea, Mohamed; Dweikat, Imad; Abu-Libdeh, Bassam; Daana, Muhannad; Zaki, Maha S.; Wakeling, Matthew N.; McGavin, Lucy; Turnpenny, Peter D.; Alkuraya, Fowzan S.; Houlden, Henry; Schlattmann, Peter; Kaila, Kai; Crosby, Andrew H.; Baple, Emma L.; Huebner, Christian A. 分享 收藏
Models of KPTN-related disorder implicate mTOR signalling in cognitive and overgrowth phenotypes Levitin, Maria O.; Rawlins, Lettie E.; Sanchez-Andrade, Gabriela; Arshad, Osama A.; Collins, Stephan C.; Sawiak, Stephen J.; Iffland II, Phillip H.; Andersson, Malin H. L.; Bupp, Caleb; Cambridge, Emma L.; Coomber, Eve L.; Ellis, Ian; Herkert, Johanna C.; Ironfield, Holly; Jory, Logan; Kretz, Perrine F.; Kant, Sarina G.; Neaverson, Alexandra; Nibbeling, Esther; Rowley, Christine; Relton, Emily; Sanderson, Mark; Scott, Ethan M.; Stewart, Helen; Shuen, Andrew Y.; Schreiber, John; Tuck, Liz; Tonks, James; Terkelsen, Thorkild; van Ravenswaaij-Arts, Conny; Vasudevan, Pradeep; Wenger, Olivia; Wright, Michael; Day, Andrew; Hunter, Adam; Patel, Minal; Lelliott, Christopher J.; Crino, Peter B.; Yalcin, Binnaz; Crosby, Andrew H.; Baple, Emma L.; Logan, Darren W.; Hurles, Matthew E.; Gerety, Sebastian S. 分享 收藏
Bi-allelic CAMSAP1 variants cause a clinically recognizable neuronal migration disorder Khalaf-Nazzal, Reham; Fasham, James; Inskeep, Katherine A.; Blizzard, Lauren E.; Leslie, Joseph S.; Wakeling, Matthew N.; Ubeyratna, Nishanka; Mitani, Tadahiro; Griffith, Jennifer L.; Baker, Wisam; Al-Hijawi, Fida'; Keough, Karen C.; Gezdirici, Alper; Pena, Loren; Spaeth, Christine G.; Turnpenny, Peter D.; Walsh, Joseph R.; Ray, Randall; Neilson, Amber; Kouranova, Evguenia; Cui, Xiaoxia; Curiel, David T.; Pehlivan, Davut; Akdemir, Zeynep Coban; Posey, Jennifer E.; Lupski, James R.; Dobyns, William B.; Stottmann, Rolf W.; Crosby, Andrew H.; Baple, Emma L. 分享 收藏
Biallelic DAW1 variants cause a motile ciliopathy characterized by laterality defects and subtle ciliary beating abnormalities Leslie, Joseph S.; Hjeij, Rim; Vivante, Asaf; Bearce, Elizabeth A.; Dyer, Laura; Wang, Jiaolong; Rawlins, Lettie; Kennedy, Joanna; Ubeyratna, Nishanka; Fasham, James; Irons, Zoe H.; Craig, Samuel B.; Koenig, Julia; George, Sebastian; Pode-Shakked, Ben; Bolkier, Yoav; Barel, Ortal; Mane, Shrikant; Frederiksen, Kathrine K.; Wenger, Olivia; Scott, Ethan; Cross, Harold E.; Lorentzen, Esben; Norris, Dominic P.; Anikster, Yair; Omran, Heymut; Grimes, Daniel T.; Crosby, Andrew H.; Baple, Emma L. 分享 收藏
HERC2 deficiency activates C-RAF/MKK3/p38 signalling pathway altering the cellular response to oxidative stress Sala-Gaston, Joan; Pedrazza, Leonardo; Ramirez, Juanma; Martinez-Martinez, Arturo; Rawlins, Lettie E.; Baple, Emma L.; Crosby, Andrew H.; Mayor, Ugo; Ventura, Francesc; Rosa, Jose Luis 分享 收藏
Biallelic variants in TRAPPC10 cause a microcephalic TRAPPopathy disorder in humans and mice Rawlins, Lettie E.; Almousa, Hashem; Khan, Shazia; Collins, Stephan C.; Milev, Miroslav P.; Leslie, Joseph; Saint-Dic, Djenann; Khan, Valeed; Hincapie, Ana Maria; Day, Jacob O.; McGavin, Lucy; Rowley, Christine; Harlalka, Gaurav V.; Vancollie, Valerie E.; Ahmad, Wasim; Lelliott, Christopher J.; Gul, Asma; Yalcin, Binnaz; Crosby, Andrew H.; Sacher, Michael; Baple, Emma L. 分享 收藏
Elucidating the clinical spectrum and molecular basis of HYAL2 deficiency Fasham, James; Lin, Siying; Ghosh, Promita; Radio, Francesca Clementina; Farrow, Emily G.; Thiffault, Isabelle; Kussman, Jennifer; Zhou, Dihong; Hemming, Rick; Zahka, Kenneth; Chioza, Barry A.; Rawlins, Lettie E.; Wenger, Olivia K.; Gunning, Adam C.; Pizzi, Simone; Onesimo, Roberta; Zampino, Giuseppe; Barker, Emily; Osawa, Natasha; Rodriguez, Megan Christine; Neuhann, Teresa M.; Zackai, Elaine H.; Keena, Beth; Capasso, Jenina; Levin, Alex, V; Bhoj, Elizabeth; Li, Dong; Hakonarson, Hakon; Wentzensen, Ingrid M.; Jackson, Adam; Chandler, Kate E.; Coban-Akdemir, Zeynep H.; Posey, Jennifer E.; Banka, Siddharth; Lupski, James R.; Sheppard, Sarah E.; Tartaglia, Marco; Triggs-Raine, Barbara; Crosby, Andrew H.; Baple, Emma L. 分享 收藏
A biallelic SNIP1 Amish founder variant causes a recognizable neurodevelopmental disorder Ammous, Zineb; Rawlins, Lettie E.; Jones, Hannah; Leslie, Joseph S.; Wenger, Olivia; Scott, Ethan; Deline, Jim; Herr, Tom; Evans, Rebecca; Scheid, Angela; Kennedy, Joanna; Chioza, Barry A.; Ames, Ryan M.; Cross, Harold E.; Puffenberger, Erik G.; Harries, Lorna; Baple, Emma L.; Crosby, Andrew H. 分享 收藏
Biallelic PI4KA variants cause neurological, intestinal and immunological disease 双等位基因PI4KA变体引起神经，肠道和免疫性疾病 Salter, Claire G.; Cai, Yiying; Lo, Bernice; Helman, Guy; Taylor, Henry; McCartney, Amber; Leslie, Joseph S.; Accogli, Andrea; Zara, Federico; Traverso, Monica; Fasham, James; Lees, Joshua A.; Ferla, Matteo P.; Chioza, Barry A.; Wenger, Olivia; Scott, Ethan; Cross, Harold E.; Crawford, Joanna; Warshawsky, Ilka; Keisling, Matthew; Agamanolis, Dimitris; Melver, Catherine Ward; Cox, Helen; Elawad, Mamoun; Marton, Tamas; Wakeling, Matthew N.; Holzinger, Dirk; Tippelt, Stephan; Munteanu, Martin; Valcheva, Deyana; Deal, Christin; Van Meerbeke, Sara; Vockley, Catherine Walsh; Butte, Manish J.; Acar, Utkucan; van der Knaap, Marjo S.; Korenke, G. Christoph; Kotzaeridou, Urania; Balla, Tamas; Simons, Cas; Uhlig, Holm H.; Crosby, Andrew H.; De Camilli, Pietro; Wolf, Nicole, I; Baple, Emma L. 分享 收藏
Consolidating biallelic SDHD variants as a cause of mitochondrial complex II deficiency Lin, Siying; Fasham, James; Al-Hijawi, Fida'; Qutob, Nouar; Gunning, Adam; Leslie, Joseph S.; McGavin, Lucy; Ubeyratna, Nishanka; Baker, Wisam; Zeid, Ramez; Turnpenny, Peter D.; Crosby, Andrew H.; Baple, Emma L.; Khalaf-Nazzal, Reham 分享 收藏
Dominant mitochondrial membrane protein-associated neurodegeneration (MPAN) variants cluster within a specific C19orf12 isoform Rickman, Olivia J.; Salter, Claire G.; Gunning, Adam C.; Fasham, James; Voutsina, Nikol; Leslie, Joseph S.; McGavin, Lucy; Cross, Harold E.; Posey, Jennifer E.; Akdemir, Zeynep Coban; Jhangiani, Shalini N.; Lupski, James R.; Baple, Emma L.; Crosby, Andrew H. 分享 收藏
No association between SCN9A and monogenic human epilepsy disorders Fasham, James; Leslie, Joseph S.; Harrison, Jamie W.; Deline, James; Williams, Katie B.; Kuhl, Ashley; Schwoerer, Jessica Scott; Cross, Harold E.; Crosby, Andrew H.; Baple, Emma L. 分享 收藏
Biochemical phenotype and its relationship to treatment in 16 individuals with PCCB c.1606A > G (p.Asn536Asp) variant propionic acidemia Wenger, Olivia; Brown, Miraides; Smith, Brandon; Chowdhury, Devyani; Crosby, Andrew H.; Baple, Emma L.; Yoder, Mark; Laxen, William; Tortorelli, Silvia; Strauss, Kevin A. 分享 收藏
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