未登录 Ciliopathy-Associated Missense Mutations in IFT140 are Tolerated by the Inherent Resilience of the IFT Machinery Beyer, Tina; Diwan, Gaurav D.; Leonhard, Tobias; Dahlke, Katrin; Klose, Franziska; Stehle, Isabel F.; Seda, Marian; Bolz, Sylvia; Woerz, Franziska; Russell, Robert B.; Jenkins, Dagan; Ueffing, Marius; Boldt, Karsten 分享 收藏
Structure and tethering mechanism of dynein-2 intermediate chains in intraflagellar transport 鞭毛内运输中dynein-2中间链的结构和束缚机制 Mukhopadhyay, Aakash G.; Toropova, Katerina; Daly, Lydia; Wells, Jennifer N.; Vuolo, Laura; Mladenov, Miroslav; Seda, Marian; Jenkins, Dagan; Stephens, David J.; Roberts, Anthony J. 分享 收藏
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De-Suppression of Mesenchymal Cell Identities and Variable Phenotypic Outcomes Associated with Knockout of Bbs1 Freke, Grace Mercedes; Martins, Tiago; Davies, Rosalind Jane; Beyer, Tina; Seda, Marian; Peskett, Emma; Haq, Naila; Prasai, Avishek; Otto, Georg; Srikaran, Jeshmi Jeyabalan; Hernandez, Victor; Diwan, Gaurav D.; Russell, Robert B.; Ueffing, Marius; Huranova, Martina; Boldt, Karsten; Beales, Philip L.; Jenkins, Dagan 分享 收藏
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Identification of a wide spectrum of ciliary gene mutations in nonsyndromic biliary atresia patients implicates ciliary dysfunction as a novel disease mechanism Lam, Wai-Yee; Tang, Clara Sze-Man; So, Man-Ting; Yue, Haibing; Hsu, Jacob Shujui; Chung, Patrick Ho-Yu; Nicholls, John M.; Yeung, Fanny; Lee, Chun-Wai Davy; Ngo, Diem Ngoc; Nguyen, Pham Anh Hoa; Mitchison, Hannah M.; Jenkins, Dagan; O'Callaghan, Christopher; Garcia-Barcelo, Maria-Merce; Lee, So-Lun; Sham, Pak-Chung; Lui, Vincent Chi-Hang; Kwong-Hang, Paul 分享 收藏
Diverse species-specific phenotypic consequences of loss of function sorting nexin 14 mutations Bryant, Dale; Seda, Marian; Peskett, Emma; Maurer, Constance; Pomeranz, Gideon; Ghosh, Marcus; Hawkins, Thomas A.; Cleak, James; Datta, Sanchari; Hariri, Hanaa; Eckert, Kaitlyn M.; Jafree, Daniyal J.; Walsh, Claire; Demetriou, Charalambos; Ishida, Miho; Aleman-Charlet, Cristina; Vestito, Letizia; Seselgyte, Rimante; McDonald, Jeffrey G.; Bitner-Glindzicz, Maria; Hemberger, Myriam; Rihel, Jason; Teboul, Lydia; Henne, W. Mike; Jenkins, Dagan; Moore, Gudrun E.; Stanier, Philip 分享 收藏
De Novo and Bi-allelic Pathogenic Variants in NARS1 Cause Neurodevelopmental Delay Due to Toxic Gain-of-Function and Partial Loss-of-Function Effects Manole, Andreea; Efthymiou, Stephanie; O'Connor, Emer; Mendes, Marisa, I; Jennings, Matthew; Maroofian, Reza; Davagnanam, Indran; Mankad, Kshitij; Lopez, Maria Rodriguez; Salpietro, Vincenzo; Harripaul, Ricardo; Badalato, Lauren; Walia, Jagdeep; Francklyn, Christopher S.; Athanasiou-Fragkouli, Alkyoni; Sullivan, Roisin; Desai, Sonal; Baranano, Kristin; Zafar, Faisal; Rana, Nuzhat; Ilyas, Muhammed; Horga, Alejandro; Kara, Majdi; Mattioli, Francesca; Goldenberg, Alice; Griffin, Helen; Piton, Amelie; Henderson, Lindsay B.; Kara, Benyekhlef; Aslanger, Ayca Dilruba; Raaphorst, Joost; Pfundt, Rolph; Portier, Ruben; Shinawi, Marwan; Kirby, Amelia; Christensen, Katherine M.; Wang, Lu; Rosti, Rasim O.; Paracha, Sohail A.; Sarwar, Muhammad T.; Jenkins, Dagan; Ahmed, Jawad; Santoni, Federico A.; Ranza, Emmanuelle; Iwaszkiewicz, Justyna; Cytrynbaum, Cheryl; Weksberg, Rosanna; Wentzensen, Ingrid M.; Sacoto, Maria J. Guillen; Si, Yue; Telegrafi, Aida; Andrews, Marisa, V; Baldridge, Dustin; Gabriel, Heinz; Mohr, Julia; Oehl-Jaschkowitz, Barbara; Debard, Sylvain; Senger, Bruno; Fischer, Frederic; van Ravenwaaij, Conny; Fock, Annemarie J. M.; Stevens, Servi J. C.; Bahler, Jurg; Nasar, Amina; Mantovani, John F.; Manzur, Adnan; Sarkozy, Anna; Smith, Desiree E. C.; Salomons, Gajja S.; Ahmed, Zubair M.; Riazuddin, Shaikh; Riazuddin, Saima; Usmani, Muhammad A.; Seibt, Annette; Ansar, Muhammad; Antonarakis, Stylianos E.; Vincent, John B.; Ayub, Muhammad; Grimmel, Mona; Jelsig, Anne Marie; Hjortshoj, Tina Duelund; Karstensen, Helena Gasdal; Hummel, Marybeth; Haack, Tobias B.; Jamshidi, Yalda; Distelmaier, Felix; Horvath, Rita; Gleeson, Joseph G.; Becker, Hubert; Mandel, Jean-Louis; Koolen, David A.; Houlden, Henry 分享 收藏
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SNX14 mutations affect endoplasmic reticulum-associated neutral lipid metabolism in autosomal recessive spinocerebellar ataxia 20 Bryant, Dale; Liu, Yang; Datta, Sanchari; Hariri, Hanaa; Seda, Marian; Anderson, Glenn; Peskett, Emma; Demetriou, Charalambos; Sousa, Sergio; Jenkins, Dagan; Clayton, Peter; Bitner-Glindzicz, Maria; Moore, Gudrun E.; Henne, W. Mike; Stanier, Philip 分享 收藏
COLEC10 is mutated in 3MC patients and regulates early craniofacial development Munye, Mustafa M.; Diaz-Font, Anna; Ocaka, Louise; Henriksen, Maiken L.; Lees, Melissa; Brady, Angela; Jenkins, Dagan; Morton, Jenny; Hansen, Soren W.; Bacchelli, Chiara; Beales, Philip L.; Hernandez-Hernandez, Victor 分享 收藏
An organelle-specific protein landscape identifies novel diseases and molecular mechanisms Boldt, Karsten; van Reeuwijk, Jeroen; Lu, Qianhao; Koutroumpas, Konstantinos; Nguyen, Thanh-Minh T.; Texier, Yves; van Beersum, Sylvia E. C.; Horn, Nicola; Willer, Jason R.; Mans, Dorus A.; Dougherty, Gerard; Lamers, Ideke J. C.; Coene, Karlien L. M.; Arts, Heleen H.; Betts, Matthew J.; Beyer, Tina; Bolat, Emine; Gloeckner, Christian Johannes; Haidari, Khatera; Hetterschijt, Lisette; Iaconis, Daniela; Jenkins, Dagan; Klose, Franziska; Knapp, Barbara; Latour, Brooke; Letteboer, Stef J. F.; Marcelis, Carlo L.; Mitic, Dragana; Morleo, Manuela; Oud, Machteld M.; Riemersma, Moniek; Rix, Susan; Terhal, Paulien A.; Toedt, Grischa; van Dam, Teunis J. P.; de Vrieze, Erik; Wissinger, Yasmin; Wu, Ka Man; Apic, Gordana; Beales, Philip L.; Blacque, Oliver E.; Gibson, Toby J.; Huynen, Martijn A.; Katsanis, Nicholas; Kremer, Hannie; Omran, Heymut; van Wijk, Erwin; Wolfrum, Uwe; Kepes, Francois; Davis, Erica E.; Franco, Brunella; Giles, Rachel H.; Ueffing, Marius; Russell, Robert B.; Roepman, Ronald 分享 收藏
Characterization of activating mutations of NOTCH3 in T-cell acute lymphoblastic leukemia and anti-leukemic activity of NOTCH3 inhibitory antibodies Bernasconi-Elias, P.; Hu, T.; Jenkins, D.; Firestone, B.; Gans, S.; Kurth, E.; Capodieci, P.; Deplazes-Lauber, J.; Petropoulos, K.; Thiel, P.; Ponsel, D.; Choi, S. Hee; LeMotte, P.; London, A.; Goetcshkes, M.; Nolin, E.; Jones, M. D.; Slocum, K.; Kluk, M. J.; Weinstock, D. M.; Christodoulou, A.; Weinberg, O.; Jaehrling, J.; Ettenberg, S. A.; Buckler, A.; Blacklow, S. C.; Aster, J. C.; Fryer, C. J. 分享 收藏
Mutations in SNX14 Cause a Distinctive Autosomal-Recessive Cerebellar Ataxia and Intellectual Disability Syndrome (vol 95, pg 611, 2014) Thomas, Anna C.; Williams, Hywel; Seto-Salvia, Nuria; Bacchelli, Chiara; Jenkins, Dagan; O'Sullivan, Mary; Mengrelis, Konstantinos; Ishida, Miho; Ocaka, Louise; Chanudet, Estelle; James, Chela; Lescai, Francesco; Anderson, Glenn; Morrogh, Deborah; Ryten, Mina; Duncan, Andrew J.; Pai, Yun Jin; Saraiva, Jorge M.; Ramos, Fabiana; Farren, Bernadette; Saunders, Dawn; Vernay, Bertrand; Gissen, Paul; Straatmaan-Iwanowska, Anna; Baas, Frank; Wood, Nicholas W.; Hersheson, Joshua; Houlden, Henry; Hurst, Jane; Scott, Richard; Bitner-Glindzicz, Maria; Moore, Gudrun E.; Sousa, Sergio B.; Stanier, Philip 分享 收藏
Mutations in SNX14 Cause a Distinctive Autosomal-Recessive Cerebellar Ataxia and Intellectual Disability Syndrome Thomas, Anna C.; Williams, Hywel; Seto-Salvia, Nuria; Bacchelli, Chiara; Jenkins, Dagan; O'Sullivan, Mary; Mengrelis, Konstantinos; Ishida, Miho; Ocaka, Louise; Chanudet, Estelle; James, Chela; Lescai, Francesco; Anderson, Glenn; Morrogh, Deborah; Ryten, Mina; Duncan, Andrew J.; Pai, Yun Jin; Saraiva, Jorge M.; Ramos, Fabiana; Farren, Bernadette; Saunders, Dawn; Vernay, Bertrand; Gissen, Paul; Straatmaan-Iwanowska, Anna; Baas, Frank; Wood, Nicholas W.; Hersheson, Joshua; Houlden, Henry; Hurst, Jane; Scott, Richard; Bitner-Glindzicz, Maria; Moore, Gudrun E.; Sousa, Sergio B.; Stanier, Philip 分享 收藏
Gain-of-function mutations in the phosphatidylserine synthase 1 (PTDSS1) gene cause Lenz-Majewski syndrome Sousa, Sergio B.; Jenkins, Dagan; Chanudet, Estelle; Tasseva, Guergana; Ishida, Miho; Anderson, Glenn; Docker, James; Ryten, Mina; Sa, Joaquim; Saraiva, Jorge M.; Barnicoat, Angela; Scott, Richard; Calder, Alistair; Wattanasirichaigoon, Duangrurdee; Chrzanowska, Krystyna; Simandlova, Martina; Van Maldergem, Lionel; Stanier, Philip; Beales, Philip L.; Vance, Jean E.; Moore, Gudrun E. 分享 收藏
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Mutations in Multidomain Protein MEGF8 Identify a Carpenter Syndrome Subtype Associated with Defective Lateralization Twigg, Stephen R. F.; Lloyd, Deborah; Jenkins, Dagan; Elcioglu, Nurse E.; Cooper, Christopher D. O.; Al-Sannaa, Nouriya; Annagur, Ali; Gillessen-Kaesbach, Gabriele; Huening, Irina; Knight, Samantha J. L.; Goodship, Judith A.; Keavney, Bernard D.; Beales, Philip L.; Gileadi, Opher; McGowan, Simon J.; Wilkie, Andrew O. M. 分享 收藏
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