„Exons“

Suchergebnisse

1.000+ Treffer

• Correspondence of D. melanogaster and C. elegans developmental stages revealed by alternative splicing characteristics of conserved exons
  Gao, Ruiqi ; Li, Jingyi Jessica
• Tdp-43 cryptic exons are highly variable between cell types
  Jeong, Yun Ha ; Ling, Jonathan P. ; Lin, Sophie Z. ; Donde, Aneesh N. ; Braunstein, Kerstin E. ; Majounie, Elisa ; Traynor, Bryan J. ; LaClair, Katherine D. ; Lloyd, Thomas E. ; Wong, Philip C.
• Genomic structure and expression of the human serotonin 2A receptor gene (HTR2A) locus: identification of novel HTR2A and antisense (HTR2A-AS1) exons
  Ruble, Cara L. ; Smith, Ryan M. ; Calley, John ; Munsie, Leanne ; Airey, David C. ; Gao, Yuan ; Shin, Joo Heon ; Hyde, Thomas M. ; Straub, Richard E. ; Weinberger, Daniel R. ; Nisenbaum, Laura K.
• Mutation Analyses in Selected Exons of the MUT Gene in Indian Patients with Methylmalonic Acidemia
  Kumari, Chandrawati ; Kapoor, Seema ; Varughese, Bijo ; Pollipali, Sunil Kumar ; Ramji, Siddarth
• Variants in exons 5 and 6 of ACTB cause syndromic thrombocytopenia
  Latham, Sharissa L. ; Ehmke, Nadja ; Reinke, Patrick Y. A. ; Taft, Manuel Henry ; Eicke, Dorothee ; Reindl, Theresia ; Stenzel, Werner ; Lyons, Michael J. ; Friez, Michael J. ; Lee, Jennifer A. ; Hecker, Ramona ; Frühwald, Michael ; Becker, Kerstin ; Neuhann, Teresa M. ; Horn, Denise ; Schröck, Evelin ; Niehaus, Indra ; Sarnow, Katharina ; Grützmann, Konrad ; Gawehn, Luzie ; Klink, Barbara ; Rump, Andreas ; Chaponnier, Christine ; Figueiredo, Constanca ; Knöfler, Ralf ; Manstein, Dietmar J. ; Di Donato,
• Germline mutations of BRCA1 gene exon 11 are not associated with platinum response neither with survival advantage in patients with primary ovarian cancer: understanding the clinical importance of one of the biggest human exons. A study of the Tumor Bank Ovarian Cancer (TOC) Consortium
  Dimitrova, Desislava ; Ruscito, Ilary ; Olek, Sven ; Richter, Rolf ; Hellwag, Alexander ; Türbachova, Ivana ; Woopen, Hannah ; Baron, Udo ; Braicu, Elena Ioana ; Sehouli, Jalid
• Analysis of CCM1 expression uncovers novel minor-form exons and variable splicing patterns
  Mondejar, Rufino ; Delgado, Mercedes ; Solano, Francisca ; Izquierdo, Guillermo ; Martinez-Mir, Amalia ; Lucas, Miguel
• Synonymous codon usage bias is correlative to intron number and shows disequilibrium among exons in plants
  Qin, Zhen ; Cai, Zhengqiu ; Xia, Guangmin ; Wang, Mengcheng
• Multiple recent horizontal transfers of the cox1intron in Solanaceae and extended co-conversion of flanking exons
  Sanchez-Puerta, Maria V. ; Abbona, Cinthia C. ; Zhuo, Shi ; Tepe, Eric J. ; Bohs, Lynn ; Olmstead, Richard G. ; Palmer, Jeffrey D.
• Development of a novel PTT assay for mutation detection in PALB2 large exons and PALB2 screening in medullary breast cancer
  Poumpouridou, Nikoleta ; Goutas, Nikolaos ; Tsionou, Christina ; Dimas, Kleanthi ; Lianidou, Evi ; Kroupis, Christos
• Predicting mutually exclusive spliced exons based on exon length, splice site and reading frame conservation, and exon sequence homology
  Pillmann, Holger ; Hatje, Klas ; Odronitz, Florian ; Hammesfahr, Björn ; Kollmar, Martin
• Cryptic insertion of MYC exons 2 and 3 into the immunoglobulin heavy chain locus detected by whole genome sequencing in a case of "MYC-negative" Burkitt lymphoma
  Wagener, Rabea ; Bens, Susanne ; Toprak, Umut ; Seufert, Julian ; López, Cristina ; Scholz, Ingrid ; Herbrueggen, Heidi ; Oschlies, Ilske ; Stilgenbauer, Stephan ; Schlesner, Matthias ; Klapper, Wolfram ; Burkhardt, Birgit ; Siebert, Reiner 2020 Universität Augsburg
• Global analysis of single nucleotide polymorphisms in the exons of human deoxyribonuclease I‐like 1 and 2 genes
  Fujihara, Junko ; Yasuda, Toshihiro ; Iida, Reiko ; Kimura‐Kataoka, Kaori ; Soejima, Mikiko ; Koda, Yoshiro ; Kato, Hideaki ; Panduro, Arturo ; Yuasa, Isao ; Takeshita, Haruo
• Author Correction: Full-length RNA-Seq of the RHOH gene in human B cells reveals new exons and splicing patterns
  Leprêtre, Frédéric ; Meneboo, Jean-Pascal ; Villenet, Céline ; Delestré, Laure ; Quesnel, Bruno ; Shelley, Carl Simon ; Figeac, Martin ; Galiègue-Zouitina, Sylvie
• Full-length RNA-Seq of the RHOH gene in human B cells reveals new exons and splicing patterns
  Leprêtre, Frédéric ; Meneboo, Jean-Pascal ; Villenet, Céline ; Delestré, Laure ; Quesnel, Bruno ; Shelley, Carl Simon ; Figeac, Martin ; Galiègue-Zouitina, Sylvie
• High variability of peptidylarginine deiminase 4 (PADI4) in a healthy white population: characterization of six new variants of PADI4 exons 2–4 by a novel haplotype-specific sequencing-based approach
  Hoppe, Berthold ; Heymann, Guido A. ; Tolou, Farzaneh ; Kiesewetter, Holger ; Dörner, Thomas ; Salama, Abdulgabar
• Abundance of clinical variants in exons included in multiple transcripts
  Subramanian, Sankar
• Deletion of RAI1 noncoding exons 1–2 causes Smith–Magenis syndrome
  Hamiel, Uri ; Kurolap, Alina ; Chai Gadot, Chofit ; Mory, Adi ; Bar Shira, Anat ; Baris Feldman, Hagit ; Marom, Daphna
• Evidence for adaptive introgression of exons across a hybrid swarm in deer
  Haines, Margaret L. ; Luikart, Gordon ; Amish, Stephen J. ; Smith, Seth ; Latch, Emily K.
• Detecting clinically actionable variants in the 3′ exons of PMS2 via a reflex workflow based on equivalent hybrid capture of the gene and its pseudogene
  Gould, Genevieve M. ; Grauman, Peter V. ; Theilmann, Mark R. ; Spurka, Lindsay ; Wang, Irving E. ; Melroy, Laura M. ; Chin, Robert G. ; Hite, Dustin H. ; Chu, Clement S. ; Maguire, Jared R. ; Hogan, Gregory J. ; Muzzey, Dale