Results 141 to 150 of about 9,183 (205)

Assessing the diagnostic impact of blood transcriptome profiling in a pediatric cohort previously assessed by genome sequencing. [PDF]

NPJ Genom Med
Hou H, Yuki KE, Costain G, Szuto A, Barnes S, Ramani AK, Celik A, Braga M, Gloven-Brown M, Stavropoulos DJ, Bowdin S, Cohn RD, Mendoza-Londono R, Scherer SW, Brudno M, Marshall CR, Stephen Meyn M, Shlien A, Dowling JJ, Wilson MD, Kyriakopoulou L.   +20 more
europepmc   +1 more source

Integrating WGCNA, TCN, and Alternative Splicing to Map Early Caste Programs in Day-2 Honeybee Larvae. [PDF]

Genes (Basel)
Ding X, Li J, Yue D, Su R.
europepmc   +1 more source

Adamts4 coordinates the transcriptomic profile of primary rat costal chondrocytes. [PDF]

Stem Cells Transl Med
Wei Z, Chen Y, Kou W, Zhang Y, Sha W, Guo R, Lei Y, Zhang N, Shi Y, Wang Z.   +9 more
europepmc   +1 more source

Refining the interpretation of variants of uncertain significance in hereditary cancer screening through integrated RNA sequencing. [PDF]

Genet Med Open
Sha Y, Ortiz JB, Bristow SL, Loranger K, Meng L, Zhao X, Xia F, Parmar S, ElNaggar AC, Xu W.   +9 more
europepmc   +1 more source

ALDH18A1 has carcinogenic functions and regulates alternative splicing events of DNA repair-related genes in esophageal carcinoma cells. [PDF]

Sci Rep
Yongkang W, Yisireyili M, Abudureyimu K, Enomoto A.   +3 more
europepmc   +1 more source

Paired DNA/RNA testing uncovers a deep intronic <i>PTEN</i> pathogenic variant associated with clinical Cowden Syndrome: a case report. [PDF]

Front Oncol
Hall MJ, Kim DW, Namjoshi D, McSweeny M, Richardson ME, Marsh AP, Hernandez F, Dedousis D.   +7 more
europepmc   +1 more source

Transcripts from the <i>src-1(cj293)</i> mutant can encode a SRC-1 molecule lacking the SH2 domain in <i>Caenorhabditis elegans</i>. [PDF]

MicroPubl Biol
Mahadik SS, Lundquist EA.
europepmc   +1 more source

The c.1744G > C, p.(Glu582Gln) missense variant in coding exon 14 of APC increases skipping of a natural occurring isoform and causes Familial Adenomatous Polyposis. [PDF]

J Cancer Res Clin Oncol
Jelsig AM, Boelman MB, Birkedal U, Hübertz J, Al-Zehawi L, Lautrup C, Karstensen JG, van Overeem Hansen T.   +7 more
europepmc   +1 more source

Alternative splicing-triggered mRNA decay informs splice-switching targets for neurodevelopmental disorders. [PDF]

J Clin Invest
Hu K, Yang R, Qiu J, Feng X, LaPre KJ, Tanouye J, Yang Y, Zhang X.   +7 more
europepmc   +1 more source

Cracking rare disorders: a new minimally invasive RNA-seq protocol. [PDF]

NPJ Genom Med
De Cock L, D'haenens E, Vantomme L, Backers L, Beyens A, Claes KB, De Clercq G, de Putter R, Kumps C, Schuermans N, Sourbron J, Syryn H, Tavernier S, Vanbelleghem E, Vanakker O, Vandekerckhove B, Van Damme T, Callewaert B, Dheedene A, Vergult S, Menten B.   +20 more
europepmc   +1 more source