Results 251 to 260 of about 250,365 (285)

A Plot Twist: When RNA Yields Unexpected Findings in Paired DNA-RNA Germline Genetic Testing. [PDF]

Genes (Basel)
Zimmermann H, Brannan T, Young C, Ramirez Castano J, Horton C, Richardson A, Molparia B, Richardson ME.   +7 more
europepmc   +1 more source

Integrating Long‐Read Nanopore Sequencing for Precision Resolution of Genomic Variants in Dystonia

Movement Disorders, EarlyView.
Abstract Background Although many individuals with dystonia present with features indicative of single‐gene etiologies, obtaining definitive genetic diagnoses can be challenging. Objective We assessed the value of nanopore‐based long‐read sequencing (LRS) in achieving molecular clarification of dystonic syndromes.
Ugo Sorrentino, Martin Pavlov, Nazanin Mirza‐Schreiber, Melanie Brugger, Theresa Brunet, Eugenia Tsoma, Alice Saparov, Ivana Dzinovic, Philip Harrer, Antonia M. Stehr, Matias Wagner, Erik Tilch, Barbara Wallacher, Shiraz Alhasan, Anne Koy, Alessio Di Fonzo, Miriam Kolnikova, Katarina Kusikova, Petra Havrankova, Raushana Tautanova, Sandy Lösecke, Sebastian Eck, Sylvia Boesch, Jan Necpal, Matej Skorvanek, Robert Jech, Holger Prokisch, Juliane Winkelmann, Konrad Oexle, Elisabeth Graf, Michael Zech   +30 more
wiley   +1 more source

Conservation and Tandem Duplication of tRNA Genes in Plant Species. [PDF]

Genes (Basel)
Zhang F, Xiong Y, Chen Y, Jadoon S, Yu H, Liu Z, Liu K, Qiu L, Wang J.   +8 more
europepmc   +1 more source

Genetic dissection of nonconventional introns reveals codominant noncanonical splicing code in <i>Euglena</i>. [PDF]

Proc Natl Acad Sci U S A
Nomura T, Kim JS, Iwata O, Yamada K, Atsuji K, Uehara-Yamaguchi Y, Yoshida T, Inoue K, Takahagi K, Sakurai T, Shinozaki K, Ito T, Suzuki K, Goda K, Mochida K.   +14 more
europepmc   +1 more source

Exploring Splicing-Energy Axis Associations to Diet and Longevity. [PDF]

Aging Cell
Donega S, Gorospe M, Ferrucci L.
europepmc   +1 more source

Case Report: Dual resistance to dasatinib/olverembatinib in accelerated-phase cml: identification of a novel <i>SPECC1L</i>-inserted e8a2 <i>BCR::ABL1</i> transcript and <i>ABL1</i> V379I mutation. [PDF]

Front Oncol
Fu J, Tang Y, Ruan X, Wang R, Chen T, Jiang L, He Y, Xu Z, Wang B, Zhang H, Zhou J, Lan M, Li H.   +12 more
europepmc   +1 more source

Analysis of Intron 1 Inversion at F8 Gene in Severe Hemophilia A Patients by Inverse Shifting-PCR Referred from Isfahan Seyedolshohada Hospital

, 2013
Narges Roozafzay, Leila Kokabee, Sirous Zeinali, Morteza Karimipoor   +3 more
openalex   +1 more source

MYC-mediated transcriptional control of splicing factors promotes RNA splicing in activated B lymphocytes. [PDF]

Sci Rep
Li S, Yang C, Li J, Liu Z, Gong F, Ke X, Ruan GX, Huang H.   +7 more
europepmc   +1 more source

Genome sequence assembly and annotation of <i>MATA</i> and <i>MATB</i> strains of <i>Yarrowia lipolytica</i>. [PDF]

NAR Genom Bioinform
Zali N, El Demerdash O, Chougule K, Lu Z, Ware D, Stillman B.   +5 more
europepmc   +1 more source