Results 141 to 150 of about 250,365 (285)

Combined analysis of the MspI and XbaI polymorphisms in intron 22 of the factor VIII gene for detection of hemophilia A in a Korean population

, 2012
S.H. Park, Nack‐Gyun Chung, M. R. Lee, Seong‐Keun Yoo, Yoonhwa Choi   +4 more
openalex   +1 more source

IRcall and IRclassifier: two methods for flexible detection of intron retention events from RNA-Seq data [PDF]

, 2015
Yang Bai, Shufan Ji, Yadong Wang
openalex   +1 more source

Cadherin‐26 Facilitates Transepithelial Migration of Eosinophils in Eosinophilic Chronic Rhinosinusitis

International Forum of Allergy &Rhinology, EarlyView.
ABSTRACT Background Eosinophilic chronic rhinosinusitis with nasal polyps (eCRSwNP) is characterized by persistent sinonasal inflammation and marked eosinophilic infiltration. Although the relationship between eosinophils and NP formation has been extensively studied, the mechanisms governing eosinophil transepithelial migration into the nasal mucosa ...
Yeong‐In Jo, Jee Won Moon, Joo‐Hoo Park, Hwa Eun Yang, Subin Cho, Hyeongguk Son, Hyun‐Woo Yang, Il‐Ho Park   +7 more
wiley   +1 more source

Co-transcriptional splicing changes combine with reduced productive transcription initiation for cold-induced repression of FLC. [PDF]

Nucleic Acids Res
Maple R, Menon G, Duncan S, Schulten A, Sindalovskaya M, Yang H, Bloomer R, Howard M, Dean C.   +8 more
europepmc   +1 more source

Integrated Exon and Intron Splicing Analysis Identifies Novel GAS5 and PVT1 Regulatory Junctions in Esophageal Adenocarcinoma [PDF]

John Mathew Manipadam
openalex   +1 more source

Hubungan kekerabatan serta pengelompokan kultivar pisang berdasarkan marka morfologi dan sekuen intron trnl [PDF]

, 2020
Farah Nahdia Noor
openalex  

Intron [PDF]

, 2020
openaire   +1 more source

TARDBP (TDP‐43) Knock‐in Zebrafish Display a Late‐Onset Motor Phenotype and Loss of Large Spinal Cord Motor Neurons

Annals of Neurology, EarlyView.
Objective Mutations in TARDBP (encoding TDP‐43) are associated with the neurodegenerative disease amyotrophic lateral sclerosis (ALS) and include familial missense mutations where there are a lack of models and mechanisms examining how they are pathogenic.
Ziyaan A. Harji, Christian J. Rampal, Esteban C. Rodríguez, Virginie Petel Légaré, Alexandra Lissouba, Sabrina Semmler, Meijiang Liao, Jay P. Ross, Guy A. Rouleau, Christine Vande Velde, Gary A.B. Armstrong   +10 more
wiley   +1 more source

Optical genome mapping identifies a balanced inversion disrupting DMD in a patient with Duchenne muscular dystrophy. [PDF]

Mol Cytogenet
Turtinen T, Isohanni P, Anttonen AK, Huhti L, Pylkäs K, Tikkanen M, Hakonen AH, Strang-Karlsson S, Mantere T.   +8 more
europepmc   +1 more source

Co‐Opting MBNL‐Dependent Alternative Splicing Cassette Exons to Control Gene Therapy in Myotonic Dystrophy

Annals of Neurology, EarlyView.
Objective Myotonic dystrophy type 1 (DM1) is a highly variable, multisystemic genetic disorder caused by a CTG repeat expansion in the 3′ untranslated region of DMPK. Toxicity is exerted by repeat‐containing DMPK transcripts that sequester muscleblind‐like (MBNL) proteins and lead to deleterious yet predictable changes in alternative splicing.
Samuel T. Carrell, Ellie M. Carrell, Ryan Giovenco, Beverly L. Davidson   +3 more
wiley   +1 more source