Results 151 to 160 of about 12,984 (193)

Insights into Recognition and Function of Cryptic Splice Sites

, 2019
openaire   +1 more source

An in vivo parallelized reporter assay to uncover tissue-specific splicing regulatory sequences in a multicellular animal. [PDF]

Nucleic Acids Res
Bhatnagar S, Ho J, Sadek NH, Singh I, Zoberman M, Koterniak B, Liu Y, Fusca DD, Cutter AD, Moses AM, Calarco JA.   +10 more
europepmc   +1 more source

A Novel <i>ABO*O.01.02-B.01</i> Hybrid Allele with a c.28+1G>A Variation Causing the Bel Phenotype. [PDF]

Ann Lab Med
Shao LN, Li CX, Xia YX, Yang YC, Li N, Wang LY, Zhou SH, Fan YX.   +7 more
europepmc   +1 more source

Burden of novel and ultra-rare missense variants in the NF-κB pathway genes associated to Ménière's disease. [PDF]

Front Immunol
Cruz-Granados P, Rivero de Jesus V, Soto-Varela A, Gonzalez-Aguado R, Lopez-Escamez JA.   +4 more
europepmc   +1 more source

Splicing-driven post-translational dysregulation: a new frontier for precision cancer medicine and immunotherapy. [PDF]

Clin Transl Oncol
Alatawi S.
europepmc   +1 more source

Protocol for validating computationally predicted splice-altering variants using full-length gene reporter assays. [PDF]

STAR Protoc
Lukes ME, Kiianitsa K, Widjaja A, Korvatska O.   +3 more
europepmc   +1 more source

Molecular mechanisms and therapeutic strategies for the recurrent F9 (c.520 + 13 A > G) variant in hemophilia B. [PDF]

Hum Genomics
Zhang H, Wang C, Gu M, Meng Z, Guo Y, Zhang W, Balestra D, Guo W, Wang B.   +8 more
europepmc   +1 more source

DNAJB13 polymorphisms and association with idiopathic asthenozoospermia in Sichuan, China. [PDF]

Basic Clin Androl
He J, Zhang Z, Ding Y, Cheng C, Li N, Li T, Zhao X, Wang C, Ding X.   +8 more
europepmc   +1 more source

Exome-wide association study of blood lipids in 1,158,017 individuals from diverse populations. [PDF]

Nat Genet
Koyama S, Yu Z, Choi SH, Jurgens SJ, Selvaraj MS, Klarin D, Huffman JE, Clarke SL, Zhang SK, Trinh MN, Ravi A, Dron JS, Spinks C, Surakka I, Bhatnagar A, Lannery K, Hornsby W, Damrauer SM, Chang KM, Lynch JA, Assimes TL, Tsao PS, Rader DJ, Cho K, Peloso GM, Ellinor PT, Sun YV, Wilson PWF, VA Million Veteran Program, Natarajan P.   +29 more
europepmc   +1 more source