Results 71 to 80 of about 1,085 (147)
Additional file 6 of Genetic analysis of sinonasal undifferentiated carcinoma discovers recurrent SWI/SNF alterations and a novel PGAP3-SRPK1 fusion gene
, 2021 Additional file 6: Supplemental Table 3. Sanger Sequencing Primers.Heft Neal, Molly E., Birkeland, Andrew C., Bhangale, Apurva D., Zhai, Jingyi, Kulkarni, Aditi, Foltin, Susan K., Jewell, Brittany M., Ludwig, Megan L., Pinatti, Lisa, Jiang, Hui, McHugh, Jonathan B., Marentette, Lawence, McKean, Erin L., Brenner, J. Chad +13 moreopenaire +1 more sourceAdditional file 1 of Genetic analysis of sinonasal undifferentiated carcinoma discovers recurrent SWI/SNF alterations and a novel PGAP3-SRPK1 fusion gene
, 2021 Additional file 1: Supplemental Figure 1. High confidence somatic mutations and INDELS is depicted for each sample.Heft Neal, Molly E., Birkeland, Andrew C., Bhangale, Apurva D., Zhai, Jingyi, Kulkarni, Aditi, Foltin, Susan K., Jewell, Brittany M., Ludwig, Megan L., Pinatti, Lisa, Jiang, Hui, McHugh, Jonathan B., Marentette, Lawence, McKean, Erin L., Brenner, J. Chad +13 moreopenaire +1 more sourceTranscriptome‐wide gene expression outlier analysis pinpoints therapeutic vulnerabilities in colorectal cancer
Molecular Oncology, Volume 18, Issue 6, Page 1460-1485, June 2024.Multi‐omics data were obtained for 226 CRC cell lines. Extreme positive and negative gene expression outliers were identified from RNA‐seq data using a novel computational workflow. Gene expression abnormalities were subsequently associated with (epi)genetic alterations.Elisa Mariella, Gaia Grasso, Martina Miotto, Kristi Buzo, Nicole Megan Reilly, Pietro Andrei, Pietro Paolo Vitiello, Giovanni Crisafulli, Sabrina Arena, Giuseppe Rospo, Giorgio Corti, Annalisa Lorenzato, Carlotta Cancelliere, Ludovic Barault, Giulia Gionfriddo, Michael Linnebacher, Mariangela Russo, Federica Di Nicolantonio, Alberto Bardelli +18 morewiley +1 more sourceSignificantly different clinical phenotypes associated with mutations in synthesis and transamidase+remodeling glycosylphosphatidylinositol (GPI)-anchor biosynthesis genes. [PDF]
, 2020 BACKGROUND: Defects in the glycosylphosphatidylinositol (GPI) biosynthesis pathway can result in a group of congenital disorders of glycosylation known as the inherited GPI deficiencies (IGDs).Blau, Hannah, Carmody, Leigh, Danis, Daniel, Gourdine, Jean-Philippe, Krawitz, Peter, Robinson, Peter N, Thompson, Miles D, Vasilevsky, Nicole, Zhang, Xingman A +8 morecore +1 more sourceDefining the relationship between cellular and extracellular vesicle (EV) content in breast cancer via an integrative multi‐omic analysis
PROTEOMICS, Volume 24, Issue 11, June 2024.Abstract
Much recent research has been dedicated to exploring the utility of extracellular vesicles (EVs) as circulating disease biomarkers. Underpinning this work is the assumption that the molecular cargo of EVs directly reflects the originating cell. Few attempts have been made, however, to empirically validate this on the ‐omic level.Rebecca E. Lane, Darren Korbie, Kum Kum Khanna, Ahmed Mohamed, Michelle M. Hill, Matt Trau +5 morewiley +1 more sourceMultiancestry association study identifies new asthma risk loci that colocalize with immune-cell enhancer marks [PDF]
, 2017 We examined common variation in asthma risk by conducting a meta-analysis of worldwide asthma genome-wide association studies (23,948 asthma cases, 118,538 controls) of individuals from ethnically diverse populations.Altmüller, Janine, Ang, Wei, Australian Asthma Genetics Consortium (AAGC) collaborators, Barnes, Kathleen C, Barr, R Graham, Beaty, Terri H, Becker, Allan B, Beilby, John, Bisgaard, Hans, Bjornsdottir, Unnur Steina, Bleecker, Eugene, Boomsma, Dorret I, Bouzigon, Emmanuelle, Brightling, Christopher E, Brossard, Myriam, Brusselle, Guy G, Burchard, Esteban, Burkart, Kristin M, Bush, Andrew, Bønnelykke, Klaus, Chan-Yeung, Moira, Chung, Kian Fan, Cookson, William OC, Couto Alves, Alexessander, Curtin, John A, Custovic, Adnan, Daley, Denise, de Jongste, Johan C, Del-Rio-Navarro, Blanca E, Demenais, Florence, Donohue, Kathleen M, Duijts, Liesbeth, Eng, Celeste, Eriksson, Johan G, Farrall, Martin, Fedorova, Yuliya, Feenstra, Bjarke, Ferreira, Manuel A, Freidin, Maxim B, Gajdos, Zofia, Gauderman, Jim, Gehring, Ulrike, Geller, Frank, Genuneit, Jon, Gharib, Sina A, Gilliland, Frank, Granell, Raquel, Graves, Penelope E, Gudbjartsson, Daniel F, Haahtela, Tari, Heckbert, Susan R, Heederik, Dick, Heinrich, Joachim, Heliövaara, Markku, Henderson, John, Himes, Blanca E, Hirose, Hiroshi, Hirschhorn, Joel N, Hofman, Albert, Holt, Patrick, Hottenga, Jouke, Hudson, Thomas J, Hui, Jennie, Imboden, Medea, Ivanov, Vladimir, Jaddoe, Vincent WV, James, Alan, Janson, Christer, Jarvelin, Marjo-Riitta, Jarvis, Deborah, Jones, Graham, Jonsdottir, Ingileif, Jousilahti, Pekka, Kabesch, Michael, Kantor, David B, Karunas, Alexandra S, Khusnutdinova, Elza, Koppelman, Gerard H, Kozyrskyj, Anita L, Kreiner, Eskil, Kubo, Michiaki, Kumar, Ashish, Kumar, Rajesh, Kuokkanen, Mikko, Kähönen, Mika, Lahousse, Lies, Laitinen, Tarja, Laprise, Catherine, Lathrop, Mark, Lau, Susanne, Lee, Young-Ae, Lehtimäki, Terho, Letort, Sébastien, Levin, Albert M, Li, Guo, Liang, Liming, Loehr, Laura R, London, Stephanie J, Loth, Daan W, Manichaikul, Ani, Marenholz, Ingo, Margaritte-Jeannin, Patricia, Martinez, Fernando J, Matheson, Melanie C, Mathias, Rasika A, Matsumoto, Kenji, Mbarek, Hamdi, McArdle, Wendy L, Melbye, Mads, Melén, Erik, Meyers, Deborah, Michel, Sven, Moffatt, Miriam F, Mohamdi, Hamida, Musk, Arthur W, Myers, Rachel A, Nicolae, Dan L, Nieuwenhuis, Maartje AE, Noguchi, Emiko, O'Connor, George T, Ober, Carole, Ogorodova, Ludmila M, Palmer, Cameron D, Palotie, Aarno, Park, Julie E, Pennell, Craig E, Pershagen, Göran, Polonikov, Alexey, Postma, Dirkje S, Probst-Hensch, Nicole, Puzyrev, Valery P, Raby, Benjamin A, Raitakari, Olli T, Ramasamy, Adaikalavan, Rich, Stephen S, Robertson, Colin F, Romieu, Isabelle, Salam, Muhammad T, Salomaa, Veikko, Schlünssen, Vivi, Scott, Robert, Selivanova, Polina A, Sigsgaard, Torben, Simpson, Angela, Siroux, Valérie, Smith, Lewis J, Solodilova, Maria, Standl, Marie, Stefansson, Kari, Strachan, David P, Stricker, Bruno H, Takahashi, Atsushi, Thompson, Philip J, Thorleifsson, Gudmar, Thorsteinsdottir, Unnur, Tiesler, Carla MT, Torgerson, Dara G, Tsunoda, Tatsuhiko, Uitterlinden, André G, van der Valk, Ralf JP, Vaysse, Amaury, Vedantam, Sailaja, von Berg, Andrea, von Mutius, Erika, Vonk, Judith M, Waage, Johannes, Wareham, Nick J, Weiss, Scott T, White, Wendy B, Wickman, Magnus, Widén, Elisabeth, Willemsen, Gonneke, Williams, L Keoki, Wouters, Inge M, Yang, James J, Zhao, Jing Hua +175 morecore +11 more sourcesGenetic etiologies and diagnostic methods for congenital ventriculomegaly and hydrocephalus: A scoping review
Birth Defects Research, Volume 116, Issue 1, January 2024.Abstract Background
Congenital hydrocephalus (CH) is a life‐threatening neurological condition that results from an imbalance in production, flow, or absorption of cerebrospinal fluid. Predicted outcomes from in utero diagnosis are frequently unclear. Moreover, conventional treatments consisting primarily of antenatal and postnatal surgeries are often ...Caroline Aragón, D'aviyan Robinson, Megan Kocher, Katie Barrick, Lihsia Chen, Heather Zierhut +5 morewiley +1 more sourceSupplementary Videos: PGAP3 Associated with Hyperphosphatasia with Mental Retardation Plays a Novel Role in Brain Morphogenesis and Neuronal Wiring at Early Development
, 2020 Supplementary Videos: PGAP3 Associated with Hyperphosphatasia with Mental Retardation Plays a Novel Role in Brain Morphogenesis and Neuronal Wiring at Early ...Da'as, Sahar I., Aamer, Waleed, Hasan, Waseem, Aljazi Al-Maraghi, Al-Kurbi, Alya, Kilani, Houda, AlRayahi, Jehan, Zamel, Khaled, Stotland, Mitchell A., Fakhro, Khalid A. +9 moreopenaire +2 more sourcesGenetics of preschool wheeze and its progression to childhood asthma
Pediatric Allergy and Immunology, Volume 35, Issue 1, January 2024.Abstract
Wheezing is a common and heterogeneous condition in preschool children. In some countries, the prevalence can be as high as 30% and up to 50% of all children experience wheezing before the age of 6. Asthma often starts with preschool wheeze, but not all wheezing children will develop asthma at school age.Alba A.B. Wolters, Elin T.G. Kersten, Gerard H. Koppelman +2 morewiley +1 more source
