Vyzkoušejte nový nástroj s podporou AI
Summon Research Assistant
BETA
Mutations in DNAH1, which Encodes an Inner Arm Heavy Chain Dynein, Lead to Male Infertility from Multiple Morphological Abnormalities of the Sperm Flagella
Ben Khelifa, Mariem, Coutton, Charles, Zouari, Raoudha, Karaouzène, Thomas, Rendu, John, Bidart, Marie, Yassine, Sandra, Pierre, Virginie, Delaroche, Julie, Hennebicq, Sylviane, Grunwald, Didier, Escalier, Denise, Pernet-Gallay, Karine, Jouk, Pierre-Simon, Thierry-Mieg, Nicolas, Touré, Aminata, Arnoult, Christophe, Ray, Pierre F.
Published in American journal of human genetics (02.01.2014)
Published in American journal of human genetics (02.01.2014)
Get full text
Journal Article
Pathogenicity and selective constraint on variation near splice sites
Lord, Jenny, Gallone, Giuseppe, Short, Patrick J., McRae, Jeremy F., Ironfield, Holly, Wynn, Elizabeth H., Gerety, Sebastian S., He, Liu, Kerr, Bronwyn, Johnson, Diana S., McCann, Emma, Kinning, Esther, Flinter, Frances, Temple, I. Karen, Clayton-Smith, Jill, McEntagart, Meriel, Lynch, Sally Ann, Joss, Shelagh, Douzgou, Sofia, Dabir, Tabib, Clowes, Virginia, McConnell, Vivienne P.M., Lam, Wayne, Wright, Caroline F., FitzPatrick, David R., Firth, Helen V., Barrett, Jeffrey C., Hurles, Matthew E.
Published in Genome research (01.02.2019)
Published in Genome research (01.02.2019)
Get full text
Journal Article
Transcription rate strongly affects splicing fidelity and cotranscriptionality in budding yeast
Aslanzadeh, Vahid, Huang, Yuanhua, Sanguinetti, Guido, Beggs, Jean D.
Published in Genome research (01.02.2018)
Published in Genome research (01.02.2018)
Get full text
Journal Article
Non-exomic and synonymous variants in ABCA4 are an important cause of Stargardt disease
Braun, Terry A., Mullins, Robert F., Wagner, Alex H., Andorf, Jeaneen L., Johnston, Rebecca M., Bakall, Benjamin B., Deluca, Adam P., Fishman, Gerald A., Lam, Byron L., Weleber, Richard G., Cideciyan, Artur V., Jacobson, Samuel G., Sheffield, Val C., Tucker, Budd A., Stone, Edwin M.
Published in Human molecular genetics (20.12.2013)
Published in Human molecular genetics (20.12.2013)
Get full text
Journal Article
IL-10R Polymorphisms Are Associated with Very-early-onset Ulcerative Colitis
Moran, Christopher J., Walters, Thomas D., Guo, Cong-Hui, Kugathasan, Subra, Klein, Christoph, Turner, Dan, Wolters, Victorien M., Bandsma, Robert H., Mouzaki, Marialena, Zachos, Mary, Langer, Jacob C., Cutz, Ernest, Benseler, Susanne M., Roifman, Chaim M., Silverberg, Mark S., Griffiths, Anne M., Snapper, Scott B., Muise, Aleixo M.
Published in Inflammatory bowel diseases (01.01.2013)
Published in Inflammatory bowel diseases (01.01.2013)
Get full text
Journal Article
Allelic imbalance of somatic mutations in cancer genomes and transcriptomes
Rhee, Je-Keun, Lee, Sejoon, Park, Woong-Yang, Kim, Young-Ho, Kim, Tae-Min
Published in Scientific reports (10.05.2017)
Published in Scientific reports (10.05.2017)
Get full text
Journal Article
Transposable element exonization generates a reservoir of evolving and functional protein isoforms
Arribas, Yago A., Baudon, Blandine, Rotival, Maxime, Suárez, Guadalupe, Bonté, Pierre-Emmanuel, Casas, Vanessa, Roubert, Apollinaire, Klein, Paul, Bonnin, Elisa, Mchich, Basma, Legoix, Patricia, Baulande, Sylvain, Sadacca, Benjamin, Diharce, Julien, Waterfall, Joshua J., Etchebest, Catherine, Carrascal, Montserrat, Goudot, Christel, Quintana-Murci, Lluís, Burbage, Marianne, Merlotti, Antonela, Amigorena, Sebastian
Published in Cell (26.12.2024)
Published in Cell (26.12.2024)
Get full text
Journal Article
Photoreceptor Progenitor mRNA Analysis Reveals Exon Skipping Resulting from the ABCA4 c.5461-10T→C Mutation in Stargardt Disease
Sangermano, Riccardo, Bax, Nathalie M., Bauwens, Miriam, van den Born, L. Ingeborgh, De Baere, Elfride, Garanto, Alejandro, Collin, Rob W.J., Goercharn-Ramlal, Angelique S.A., den Engelsman-van Dijk, Anke H.A., Rohrschneider, Klaus, Hoyng, Carel B., Cremers, Frans P.M., Albert, Silvia
Published in Ophthalmology (Rochester, Minn.) (01.06.2016)
Published in Ophthalmology (Rochester, Minn.) (01.06.2016)
Get full text
Journal Article
Splice site and de novo variants can cause PLCG2-associated immune dysregulation with cold urticaria
Chou, Sophia R., Bailey, Alexis C., Baysac, Kathleen, Oler, Andrew J., Milner, Joshua D., Ombrello, Michael J.
Published in Journal of allergy and clinical immunology (01.03.2025)
Published in Journal of allergy and clinical immunology (01.03.2025)
Get full text
Journal Article
Rare and private spliceosomal gene mutations drive partial, complete, and dual phenocopies of hotspot alterations
Pangallo, Joseph, Kiladjian, Jean-Jacques, Cassinat, Bruno, Renneville, Aline, Taylor, Justin, Polaski, Jacob T., North, Khrystyna, Abdel-Wahab, Omar, Bradley, Robert K.
Published in Blood (26.03.2020)
Published in Blood (26.03.2020)
Get full text
Journal Article
LRRTM2 Functions as a Neurexin Ligand in Promoting Excitatory Synapse Formation
Ko, Jaewon, Fuccillo, Marc V., Malenka, Robert C., Südhof, Thomas C.
Published in Neuron (Cambridge, Mass.) (24.12.2009)
Published in Neuron (Cambridge, Mass.) (24.12.2009)
Get full text
Journal Article
USMG5 Ashkenazi Jewish founder mutation impairs mitochondrial complex V dimerization and ATP synthesis
Barca, Emanuele, Ganetzky, Rebecca D, Potluri, Prasanth, Juanola-Falgarona, Marti, Gai, Xiaowu, Li, Dong, Jalas, Chaim, Hirsch, Yoel, Emmanuele, Valentina, Tadesse, Saba, Ziosi, Marcello, Akman, Hasan O, Chung, Wendy K, Tanji, Kurenai, McCormick, Elizabeth M, Place, Emily, Consugar, Mark, Pierce, Eric A, Hakonarson, Hakon, Wallace, Douglas C, Hirano, Michio, Falk, Marni J
Published in Human molecular genetics (01.10.2018)
Published in Human molecular genetics (01.10.2018)
Get full text
Journal Article
Deficiencies in vesicular transport mediated by TRAPPC4 are associated with severe syndromic intellectual disability
Van Bergen, Nicole J, Guo, Yiran, Al-Deri, Noraldin, Lipatova, Zhanna, Stanga, Daniela, Zhao, Sarah, Murtazina, Rakhilya, Gyurkovska, Valeriya, Pehlivan, Davut, Mitani, Tadahiro, Gezdirici, Alper, Antony, Jayne, Collins, Felicity, Willis, Mary J H, Coban Akdemir, Zeynep H, Liu, Pengfei, Punetha, Jaya, Hunter, Jill V, Jhangiani, Shalini N, Fatih, Jawid M, Rosenfeld, Jill A, Posey, Jennifer E, Gibbs, Richard A, Karaca, Ender, Massey, Sean, Ranasinghe, Thisara G, Sleiman, Patrick, Troedson, Chris, Lupski, James R, Sacher, Michael, Segev, Nava, Hakonarson, Hakon, Christodoulou, John
Published in Brain (London, England : 1878) (01.01.2020)
Published in Brain (London, England : 1878) (01.01.2020)
Get full text
Journal Article