Zobrazeno 1 - 10
of 31
pro vyhledávání: '"Mutation, Missense genetics"'
Autor:
Mathieu Quinodoz, Virginie G. Peter, Katarina Cisarova, Beryl Royer-Bertrand, Peter D. Stenson, David N. Cooper, Sheila Unger, Andrea Superti-Furga, Carlo Rivolta
Publikováno v:
American journal of human genetics, vol. 109, no. 3, pp. 457-470
We used a machine learning approach to analyze the within-gene distribution of missense variants observed in hereditary conditions and cancer. When applied to 840 genes from the ClinVar database, this approach detected a significant non-random distri
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6f22654aef852e09bcbe5e9ab766cc7b
https://doi.org/10.1016/j.ajhg.2022.01.006
https://doi.org/10.1016/j.ajhg.2022.01.006
Autor:
Matteo Tiberti, Luca Di Leo, Mette Vixø Vistesen, Rikke Sofie Kuhre, Francesco Cecconi, Daniela De Zio, Elena Papaleo
Publikováno v:
Tiberti, M, Di Leo, L, Vistesen, M V, Kuhre, R S, Cecconi, F, De Zio, D & Papaleo, E 2022, ' The Cancermuts software package for the prioritization of missense cancer variants : a case study of AMBRA1 in melanoma ', Cell Death & Disease, vol. 13, 872 . https://doi.org/10.1038/s41419-022-05318-2
Tiberti, M, Di Leo, L, Vistesen, M V, Kuhre, R S, Cecconi, F, De Zio, D & Papaleo, E 2022, ' The Cancermuts software package for the prioritization of missense cancer variants : a case study of AMBRA1 in melanoma ', Cell Death & Disease, vol. 13, no. 10, 872 . https://doi.org/10.1038/s41419-022-05318-2
Tiberti, M, Di Leo, L, Vistesen, M V, Kuhre, R S, Cecconi, F, De Zio, D & Papaleo, E 2022, ' The Cancermuts software package for the prioritization of missense cancer variants : a case study of AMBRA1 in melanoma ', Cell Death & Disease, vol. 13, no. 10, 872 . https://doi.org/10.1038/s41419-022-05318-2
Cancer genomics and cancer mutation databases have made a wealth of information about missense mutations found in cancer patient samples. Contextualizing by means of annotation and predicting the effect of amino acid change help identify which ones a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e20bde3fb652977a2a767a8fdc546326
https://orbit.dtu.dk/en/publications/bdc00c42-d3c9-4dfc-976e-cf0a716bfcb4
https://orbit.dtu.dk/en/publications/bdc00c42-d3c9-4dfc-976e-cf0a716bfcb4
Autor:
Monika K. Grudzinska Pechhacker, Samuel G. Jacobson, Arlene V. Drack, Matteo Di Scipio, Ine Strubbe, Wanda Pfeifer, Jacque L. Duncan, Helene Dollfus, Nathalie Goetz, Jean Muller, Andrea L. Vincent, Tomas S. Aleman, Anupreet Tumber, Caroline Van Cauwenbergh, Elfride De Baere, Emma Bedoukian, Bart P. Leroy, Jason T. Maynes, Francis L. Munier, Erika Tavares, Eman Saleh, Ajoy Vincent, Elise Heon
Publikováno v:
Investigative Ophthalmology and Visual Science, vol 62, iss 15
INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE
Investigative Ophthalmology & Visual Science
Investigative ophthalmology & visual science, vol. 62, no. 15, pp. 26
INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE
Investigative Ophthalmology & Visual Science
Investigative ophthalmology & visual science, vol. 62, no. 15, pp. 26
PURPOSE. The purpose of this study was to compare the natural history of visual function change in cohorts of patients affected with retinal degeneration due to biallelic variants in Bardet-Biedl syndrome genes: BBS1 and BBS10. METHODS. Patients were
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3812f62ba93f17ebe71aafaf621e64e9
https://escholarship.org/uc/item/4f15j5sp
https://escholarship.org/uc/item/4f15j5sp
Autor:
Lucy Loong, Cankut Cubuk, Subin Choi, Sophie Allen, Beth Torr, Alice Garrett, Chey Loveday, Miranda Durkie, Alison Callaway, George J. Burghel, James Drummond, Rachel Robinson, Ian R. Berry, Andrew Wallace, Diana M. Eccles, Marc Tischkowitz, Sian Ellard, James S. Ware, Helen Hanson, Clare Turnbull, S. Samant, A. Lucassen, A. Znaczko, A. Shaw, A. Ansari, A. Kumar, A. Donaldson, A. Murray, A. Ross, A. Taylor-Beadling, A. Taylor, A. Innes, A. Brady, A. Kulkarni, A.-C. Hogg, A. Ramsay Bowden, A. Hadonou, B. Coad, B. McIldowie, B. Speight, B. DeSouza, B. Mullaney, C. McKenna, C. Brewer, C. Olimpio, C. Clabby, C. Crosby, C. Jenkins, C. Armstrong, C. Bowles, C. Brooks, C. Byrne, C. Maurer, D. Baralle, D. Chubb, D. Stobo, D. Moore, D. O'Sullivan, D. Donnelly, D. Randhawa, D. Halliday, E. Atkinson, E. Baple, E. Rauter, E. Johnston, E. Woodward, E. Maher, E. Sofianopoulou, E. Petrides, F. Lalloo, F. McRonald, F. Pelz, I. Frayling, G. Evans, G. Corbett, G. Rea, H. Clouston, H. Powell, H. Williamson, H. Carley, H.J.W. Thomas, I. Tomlinson, J. Cook, J. Hoyle, J. Tellez, J. Whitworth, J. Williams, J. Murray, J. Campbell, J. Tolmie, J. Field, J. Mason, J. Burn, J. Bruty, J. Callaway, J. Grant, J. Del Rey Jimenez, J. Pagan, J. VanCampen, J. Barwell, K. Monahan, K. Tatton-Brown, K.-R. Ong, K. Murphy, K. Andrews, K. Mokretar, K. Cadoo, K. Smith, K. Baker, K. Brown, K. Reay, K. McKay Bounford, K. Bradshaw, K. Russell, K. Stone, K. Snape, L. Crookes, L. Reed, L. Taggart, L. Yarram, L. Cobbold, L. Walker, L. Hawkes, L. Busby, L. Izatt, L. Kiely, L. Hughes, L. Side, L. Sarkies, K.-L. Greenhalgh, M. Shanmugasundaram, M. Duff, M. Bartlett, M. Watson, M. Owens, M. Bradford, M. Huxley, M. Slean, M. Ryten, M. Smith, M. Ahmed, N. Roberts, C. O'Brien, O. Middleton, P. Tarpey, P. Logan, P. Dean, P. May, P. Brace, R. Tredwell, R. Harrison, R. Hart, R. Kirk, R. Martin, R. Nyanhete, R. Wright, R. Davidson, R. Cleaver, S. Talukdar, S. Butler, J. Sampson, S. Ribeiro, S. Dell, S. Mackenzie, S. Hegarty, S. Albaba, S. McKee, S. Palmer-Smith, S. Heggarty, S. MacParland, S. Greville-Heygate, S. Daniels, S. Prapa, S. Abbs, S. Tennant, S. Hardy, S. MacMahon, T. McVeigh, T. Foo, T. Bedenham, T. Cranston, T. McDevitt, V. Clowes, V. Tripathi, V. McConnell, N. Woodwaer, Y. Wallis, Z. Kemp, G. Mullan, L. Pierson, L. Rainey, C. Joyce, A. Timbs, A.-M. Reuther, B. Frugtniet, C. Husher, C. Lawn, C. Corbett, D. Nocera-Jijon, D. Reay, E. Cross, F. Ryan, H. Lindsay, J. Oliver, J. Dring, J. Spiers, J. Harper, K. Ciucias, L. Connolly, M. Tsang, R. Brown, S. Shepherd, S. Begum, T. Tadiso, T. Linton-Willoughby, H. Heppell, K. Sahan, L. Worrillow, Z. Allen, M. Barlett, C. Watt, M. Hegarty
Publikováno v:
Loong, L, Cubuk, C, Choi, S, Allen, S, Torr, B, Garrett, A, Loveday, C, Durkie, M, Callaway, A, Burghel, GJ, Drummond, J, Robinson, R, Berry, IR, Wallace, A & CanVIG-UK 2021, ' Quantifying prediction of pathogenicity for within-codon concordance (PM5) using 7541 functional classifications of BRCA1 and MSH2 missense variants. ', Genetics in medicine : official journal of the American College of Medical Genetics, vol. 24, no. 3, pp. 552-563 . https://doi.org/10.1016/j.gim.2021.11.011
Purpose: Conditions and thresholds applied for evidence weighting of within-codon concordance (PM5) for pathogenicity vary widely between laboratories and expert groups. Because of the sparseness of available clinical classifications, there is little
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4a638418e559b935daf78b3ef4e1f05a
http://hdl.handle.net/10044/1/95227
http://hdl.handle.net/10044/1/95227
Autor:
Oliver Bartsch, Nanna Dahl Rendtorff, Toke Bek, Julia Doll, Karen Østergaard, Béatrice Bocquet, Katherine Harrop-Griffiths, Shamima Rahman, Wojciech Kopec, Sture Lindholm, Claes Möller, Himanshu Khandelia, Kaukab Rajput, Barbara Vona, Cécile Delettre, Hanne Jensen, Lucinda Carr, Louise C. Wilson, Hanne Poulsen, Michael Bille, Maria Bitner-Glindzicz, Tobias Moser, Linda M. Luxon, Lisbeth Tranebjærg, Thomas Haaf, Troels Lyngbye, Nicola Strenzke, Hendrik Rosewich, Christian P. Hamel, Hanne H Owen, Tony Sirimanna
Publikováno v:
Tranebjærg, L, Strenzke, N, Lindholm, S, Rendtorff, N D, Poulsen, H, Khandelia, H, Kopec, W, Lyngbye, T J B, Hamel, C, Delettre, C, Bocquet, B, Bille, M, Owen, H H, Bek, T, Jensen, H, Østergaard, K, Möller, C, Luxon, L, Carr, L, Wilson, L, Rajput, K, Sirimanna, T, Harrop-Griffiths, K, Rahman, S, Vona, B, Doll, J, Haaf, T, Bartsch, O, Rosewich, H, Moser, T & Bitner-Glindzicz, M 2018, ' The CAPOS mutation in ATP1A3 alters Na/K-ATPase function and results in auditory neuropathy which has implications for management ', Human Genetics, vol. 137, no. 2, pp. 111-127 . https://doi.org/10.1007/s00439-017-1862-z
Human Genetics
Human Genetics, Springer Verlag, 2018, 137 (2), pp.111--127. ⟨10.1007/s00439-017-1862-z⟩
Tranebjærg, L, Strenzke, N, Lindholm, S, Rendtorff, N D, Poulsen, H, Khandelia, H, Kopec, W, Lyngbye, T J B, Hamel, C, Delettre, C, Bocquet, B, Bille, M, Owen, H H, Bek, T, Jensen, H, Østergaard, K, Möller, C, Luxon, L, Carr, L, Wilson, L, Rajput, K, Sirimanna, T, Harrop-Griffiths, K, Rahman, S, Vona, B, Doll, J, Haaf, T, Bartsch, O, Rosewich, H, Moser, T & Bitner-Glindzicz, M 2018, ' The CAPOS mutation in ATP1A3 alters Na/K-ATPase function and results in auditory neuropathy which has implications for management ', Human Genetics, vol. 137, no. 2, pp. 111–127 . https://doi.org/10.1007/s00439-017-1862-z
Human Genetics
Human Genetics, Springer Verlag, 2018, 137 (2), pp.111--127. ⟨10.1007/s00439-017-1862-z⟩
Tranebjærg, L, Strenzke, N, Lindholm, S, Rendtorff, N D, Poulsen, H, Khandelia, H, Kopec, W, Lyngbye, T J B, Hamel, C, Delettre, C, Bocquet, B, Bille, M, Owen, H H, Bek, T, Jensen, H, Østergaard, K, Möller, C, Luxon, L, Carr, L, Wilson, L, Rajput, K, Sirimanna, T, Harrop-Griffiths, K, Rahman, S, Vona, B, Doll, J, Haaf, T, Bartsch, O, Rosewich, H, Moser, T & Bitner-Glindzicz, M 2018, ' The CAPOS mutation in ATP1A3 alters Na/K-ATPase function and results in auditory neuropathy which has implications for management ', Human Genetics, vol. 137, no. 2, pp. 111–127 . https://doi.org/10.1007/s00439-017-1862-z
International audience; Cerebellar ataxia, areflexia, pes cavus, optic atrophy and sensorineural hearing impairment (CAPOS) is a rare clinically distinct syndrome caused by a single dominant missense mutation, c.2452G\textgreaterA, p.Glu818Lys, in AT
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7426660fc4d077dcb8ac340d07464985
https://doi.org/10.1007/s00439-017-1862-z
https://doi.org/10.1007/s00439-017-1862-z
Autor:
Patricia Ramos, María José Sánchez-Soler, Alison Stewart, Nicolas Chassaing, Jonathan Bruty, Patrick Calvas, Domingo Aguilera-Garcia, Helen Stewart, Dominic J. McMullan, Dorine Bax, Yvonne Wallis, Alan Fryer, Anand Saggar, Carmen Ayuso, Cristina Villaverde, Fabiola Ceroni, Marta Corton, Luciana Rodrigues Jacy da Silva, Lisa Cooper-Charles, Michael J. Griffiths, Victoria McKay, Jonathan Hoffman, Maria Tarilonte, David J. Bunyan, María Juliana Ballesta-Martínez, Nicola K. Ragge, Richard J. Holt, Katherine Lachlan, Fiona Blanco-Kelly, Joelle Roume, Pascal Dureau
Publikováno v:
Human Genetics
Human Genetics, 2019, 138 (8-9), pp.1027-1042. ⟨10.1007/s00439-018-1875-2⟩
Human Genetics, 2019, 138 (8-9), pp.1027-1042. ⟨10.1007/s00439-018-1875-2⟩
International audience; GJA8 encodes connexin 50 (Cx50), a transmembrane protein involved in the formation of lens gap junctions. GJA8 mutations have been linked to early onset cataracts in humans and animal models. In mice, missense mutations and ho
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::122f27747b3dc12ebac73973e54e0086
https://ut3-toulouseinp.hal.science/hal-03542896
https://ut3-toulouseinp.hal.science/hal-03542896
Autor:
Miltiadis K. Tsilimbaris, Elfride De Baere, Thomas Langmann, Styliani V. Blazaki, Cécile Brachet, Giulia Ascari, Konstantinos Nikopoulos, Sarah Vergult, Françoise Meire, Thalia Van Laethem, Christian P. Hamel, Mingchu Xu, Katharina Dannhausen, Frank Peelman, Marieke De Bruyne, Bart P. Leroy, Miriam Bauwens, Marcus Karlstetter, Carlo Rivolta, Ruifang Sui, Isabelle Meunier, Rui Chen, Frauke Coppieters, Pietro Farinelli, Chrysanthi Tsika
Publikováno v:
American Journal of Human Genetics
American Journal of Human Genetics, Elsevier (Cell Press), 2016, 99 (2), pp.470-480. ⟨10.1016/j.ajhg.2016.06.017⟩
American journal of human genetics, vol. 99, no. 2, pp. 470-480
American journal of human genetics, 99 (2
AMERICAN JOURNAL OF HUMAN GENETICS
American Journal of Human Genetics, Elsevier (Cell Press), 2016, 99 (2), pp.470-480. ⟨10.1016/j.ajhg.2016.06.017⟩
American journal of human genetics, vol. 99, no. 2, pp. 470-480
American journal of human genetics, 99 (2
AMERICAN JOURNAL OF HUMAN GENETICS
Inherited retinal dystrophies (iRDs) are a group of genetically and clinically heterogeneous conditions resulting from mutations in over 250 genes. Here, homozygosity mapping and whole-exome sequencing (WES) in a consanguineous family revealed a homo
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::901a01da159db26ef9653517b759829d
Autor:
Cristian Gonzalez-Guerrero, Fanny Lebreton, Alejandra Tamayo, Joao Anselmo, Petra I. Lorenzo, Benoit R. Gauthier, Lucrecia Herranz, Alejandro Martin-Montalvo, José Moreno, Miguel G. Toscano, Nadia Cobo-Vuilleumier, Domenico Bosco, Carmen Maria Jimenez-Moreno, Amanda Herranz, Jonathan S W R Hofsteede, Livia López-Noriega
Publikováno v:
Digital.CSIC. Repositorio Institucional del CSIC
instname
Diabetes, Vol. 68, No 1 (2019) pp. 109-118
instname
Diabetes, Vol. 68, No 1 (2019) pp. 109-118
Transient Pax8 expression was reported in mouse islets during gestation, whereas a genome-wide linkage and admixture mapping study highlighted PAX8 as a candidate gene for diabetes mellitus (DM). We sought the significance of PAX8 expression in mouse
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7c721895dba1ec62eda41252d889c2ec
http://hdl.handle.net/10261/202559
http://hdl.handle.net/10261/202559
Autor:
Olson, Heather, Jean-Marçais, Nolwenn, Yang, Edward, Héron, Delphine, Tatton-Brown, Katrina, van der Zwaag, Paul, Bijlsma, Emilia, Krock, Bryan, Backer, E., Kamsteeg, Erik-Jan, Sinnema, Margje, Reijnders, Margot R.F., Bearden, David, Begtrup, Amber, Telegrafi, Aida, Lunsing, Roelineke, Burglen, Lydie, Lesca, Gaetan, Cho, Megan, Smith, Lacey, Sheidley, Beth, Moufawad El Achkar, Christelle, Pearl, Phillip, Poduri, Annapurna, Skraban, Cara, Tarpinian, Jennifer, Nesbitt, Addie, Fransen van de Putte, Dietje, Ruivenkamp, Claudia A.L., Rump, Patrick, Chatron, Nicolas, Sabatier, Isabelle, De Bellescize, Julitta, Guibaud, Laurent, Sweetser, David, Waxler, Jessica, Wierenga, Klaas, DDD Study,, Donadieu, Jean, Narayanan, Vinodh, Ramsey, Keri, C4RCD Research Group,, Nava, Caroline, Rivière, Jean-Baptiste, Vitobello, Antonio, Tran Mau-Them, Frederic, Philippe, Christophe, Bruel, Ange-Line, Duffourd, Yannis, Thomas, Laurel, Lelieveld, Stefan, Schuurs-Hoeijmakers, Janneke, Brunner, Han, Keren, Boris, Thevenon, Julien, Faivre, Laurence, Thomas, Gary, Thauvin-Robinet, Christel
Publikováno v:
American Journal of Human Genetics, 102, 5, pp. 995-1007
American Journal of Human Genetics
American Journal of Human Genetics, Elsevier (Cell Press), 2018, 102 (5), pp.995-1007. ⟨10.1016/j.ajhg.2018.03.005⟩
American Journal of Human Genetics, 102(5), 995. Cell Press
American Journal of Human Genetics, 102(5), 995-1007. Cell Press
American Journal of Human Genetics, 102, 995-1007
American Journal of Human Genetics, 102(5), 995-1007
American Journal of Human Genetics, 102(5), 995-1007. CELL PRESS
American Journal of Human Genetics
American Journal of Human Genetics, Elsevier (Cell Press), 2018, 102 (5), pp.995-1007. ⟨10.1016/j.ajhg.2018.03.005⟩
American Journal of Human Genetics, 102(5), 995. Cell Press
American Journal of Human Genetics, 102(5), 995-1007. Cell Press
American Journal of Human Genetics, 102, 995-1007
American Journal of Human Genetics, 102(5), 995-1007
American Journal of Human Genetics, 102(5), 995-1007. CELL PRESS
International audience; Developmental and epileptic encephalopathies (DEEs) represent a large clinical and genetic heterogeneous group of neurodevelopmental diseases. The identification of pathogenic genetic variants in DEEs remains crucial for decip
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8dde912b9337dc237e1fe52afa277ff3
https://hdl.handle.net/2066/191654
https://hdl.handle.net/2066/191654
Autor:
Emilie Andrio, Emmanuel Lemichez, Jacqueline Cherfils, Poul H. Sorensen, Anne Doye, Daniel Hamaoui, Mads Daugaard, Raymond Ruimy, Frédéric Bost, Amel Mettouchi, Romain Lotte
Publikováno v:
Scientific Reports
Scientific Reports, Nature Publishing Group, 2017, 7 (1), pp.44779. ⟨10.1038/srep44779⟩
Scientific Reports, 2017, 7 (1), pp.44779. ⟨10.1038/srep44779⟩
Scientific Reports, Nature Publishing Group, 2017, 7 (1), pp.44779. ⟨10.1038/srep44779⟩
Scientific Reports, 2017, 7 (1), pp.44779. ⟨10.1038/srep44779⟩
The E3 ubiquitin ligase HACE1 is a potent tumor suppressor that controls cell proliferation and ubiquitylates the small GTPase Rac1 to target it to proteasomal degradation. Whether and how the activity of HACE1 is regulated by the N-terminal ankyrin
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::369d0aeadf452cafe8e400b065e715d7
https://doi.org/10.1038/srep44779
https://doi.org/10.1038/srep44779