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HP1γ binding pre-mRNA intronic repeats modulates RNA splicing decisions
Rachez, Christophe, Legendre, Rachel, Costallat, Mickaël, Varet, Hugo, Yi, Jia, Kornobis, Etienne, Muchardt, Christian
Published in EMBO reports (06.09.2021)
Published in EMBO reports (06.09.2021)
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Disease‐causing mutations in the promoter and enhancer of the ornithine transcarbamylase gene
Jang, Yoon J., LaBella, Abigail L., Feeney, Timothy P., Braverman, Nancy, Tuchman, Mendel, Morizono, Hiroki, Ah Mew, Nicholas, Caldovic, Ljubica
Published in Human mutation (01.04.2018)
Published in Human mutation (01.04.2018)
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Variation in the coding sequence and flanking splice junctions of the estrogen receptor alpha (ERα) gene does not play an important role in genetic susceptibility to bipolar disorder or bipolar affective puerperal psychosis
Middle, Fiona, Jones, Ian, Robertson, Emma, Morey, Jaime, Lendon, Corinne, Craddock, Nick
Published in American journal of medical genetics. Part B, Neuropsychiatric genetics (01.04.2003)
Published in American journal of medical genetics. Part B, Neuropsychiatric genetics (01.04.2003)
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Somatic mutations in renal cell carcinomas from Chinese patients revealed by whole exome sequencing
Wang, Jie, Xi, Zhijun, Xi, Jianzhong, Zhang, Hanshuo, Li, Juan, Xia, Yuchao, Yi, Yuanxue
Published in Cancer cell international (17.10.2018)
Published in Cancer cell international (17.10.2018)
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Gain-of-Function R225W Mutation in Human AMPKγ3 Causing Increased Glycogen and Decreased Triglyceride in Skeletal Muscle
Costford, Sheila R., Kavaslar, Nihan, Ahituv, Nadav, Chaudhry, Shehla N., Schackwitz, Wendy S., Dent, Robert, Pennacchio, Len A., McPherson, Ruth, Harper, Mary-Ellen
Published in PloS one (19.09.2007)
Published in PloS one (19.09.2007)
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Novel homozygous, heterozygous and hemizygous FRMD7 gene mutations segregated in the same consanguineous family with congenital X-linked nystagmus
Radhakrishna, Uppala, Ratnamala, Uppala, Deutsch, Samuel, Bartoloni, Lucia, Kuracha, Murali R, Singh, Raminder, Banwait, Jasjit, Bastola, Dhundy K, Johar, Kaid, Nath, Swapan K, Antonarakis, Stylianos E
Published in European journal of human genetics : EJHG (01.10.2012)
Published in European journal of human genetics : EJHG (01.10.2012)
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A comprehensive survey of human polymorphisms at conserved splice dinucleotides and its evolutionary relationship with alternative splicing
Shimada, Makoto K, Hayakawa, Yosuke, Takeda, Jun-ichi, Gojobori, Takashi, Imanishi, Tadashi
Published in BMC evolutionary biology (30.04.2010)
Published in BMC evolutionary biology (30.04.2010)
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Human sulfotransferase SULT2A1 pharmacogenetics: genotype-to-phenotype studies
Thomae, B A, Eckloff, B W, Freimuth, R R, Wieben, E D, Weinshilboum, R M
Published in The pharmacogenomics journal (01.01.2002)
Published in The pharmacogenomics journal (01.01.2002)
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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)
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Genetic variation in the alternative splicing regulator RBM20 is associated with dilated cardiomyopathy
Refaat, Marwan M., Lubitz, Steven A., Makino, Seiko, Islam, Zahid, Frangiskakis, J. Michael, Mehdi, Haider, Gutmann, Rebecca, Zhang, Michael L., Bloom, Heather L., MacRae, Calum A., Dudley, Samuel C., Shalaby, Alaa A., Weiss, Raul, McNamara, Dennis M., London, Barry, Ellinor, Patrick T.
Published in Heart rhythm (01.03.2012)
Published in Heart rhythm (01.03.2012)
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KSHV 2.0: A Comprehensive Annotation of the Kaposi's Sarcoma-Associated Herpesvirus Genome Using Next-Generation Sequencing Reveals Novel Genomic and Functional Features
Arias, Carolina, Weisburd, Ben, Stern-Ginossar, Noam, Mercier, Alexandre, Madrid, Alexis S., Bellare, Priya, Holdorf, Meghan, Weissman, Jonathan S., Ganem, Don
Published in PLoS pathogens (01.01.2014)
Published in PLoS pathogens (01.01.2014)
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A Novel Transversion in the Intron 5 Donor Splice Junction of CYP2C19 and a Sequence Polymorphism in Exon 3 Contribute to the Poor Metabolizer Phenotype for the Anticonvulsant Drug S-Mephenytoin
Ibeanu, Gordon C., Blaisdell, Joyce, Ferguson, Ronald J., Ghanayem, Burhan I., Brøsen, Kim, Benhamou, Simone, Bouchardy, Christine, Wilkinson, Grant R., Dayer, Pierre, Goldstein, Joyce A.
Published in The Journal of pharmacology and experimental therapeutics (01.08.1999)
Published in The Journal of pharmacology and experimental therapeutics (01.08.1999)
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Nasal embryonic LHRH factor (NELF) mutations in patients with normosmic hypogonadotropic hypogonadism and Kallmann syndrome
Xu, Ning, Kim, Hyung-Goo, Bhagavath, Balasubramanian, Cho, Sung-Gyu, Lee, Jae Ho, Ha, Kyungsoo, Meliciani, Irene, Wenzel, Wolfgang, Podolsky, Robert H., Chorich, Lynn P., Stackhouse, Kathryn A., Grove, Anna M.H., Odom, Lawrence N., Ozata, Metin, Bick, David P., Sherins, Richard J., Kim, Soo-Hyun, Cameron, Richard S., Layman, Lawrence C.
Published in Fertility and sterility (01.04.2011)
Published in Fertility and sterility (01.04.2011)
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A Missense T(Brachyury) Mutation Contributes to Vertebral Malformations
Ghebranious, Nader, Blank, Robert D, Raggio, Cathleen L, Staubli, Justin, McPherson, Elizabeth, Ivacic, Lynn, Rasmussen, Kristen, Jacobsen, F Stig, Faciszewski, Thomas, Burmester, James K, Pauli, Richard M, Boachie‐Adjei, Oheneba, Glurich, Ingrid, Giampietro, Philip F
Published in Journal of bone and mineral research (01.10.2008)
Published in Journal of bone and mineral research (01.10.2008)
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Hepatosplenomegalic lipidosis: what unless Gaucher? Adult cholesteryl ester storage disease (CESD) with anemia, mesenteric lipodystrophy, increased plasma chitotriosidase activity and a homozygous lysosomal acid lipase −1 exon 8 splice junction mutation
Dahl, Stephan vom, Harzer, Klaus, Rolfs, Arndt, Albrecht, Bettina, Niederau, Claus, Vogt, Christoph, Weely, Sonja van, Aerts, Johannes, Müller, Gerd, Häussinger, Dieter
Published in Journal of hepatology (01.10.1999)
Published in Journal of hepatology (01.10.1999)
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Hypercholesterolemia associated with splice-junction variation of inter-α-trypsin inhibitor heavy chain 4 (ITIH4) gene
Fujita, Yuko, Ezura, Yoichi, Emi, Mitsuru, Sato, Keiko, Takada, Daisuke, Iino, Yasuhiko, Katayama, Yasuo, Takahashi, Kaneo, Kamimura, Kouhei, Bujo, Hideaki, Saito, Yasushi
Published in Journal of human genetics (01.01.2004)
Published in Journal of human genetics (01.01.2004)
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