Results 171 to 180 of about 416,899 (328)

A Regulatory Element in Intron 1 of the Cystic Fibrosis Transmembrane Conductance Regulator Gene [PDF]

, 1996
Annabel N. Smith, Maria Luiza Barth, Tarra L. McDowell, Danielle S. Moulin, Hugh Nuthall, Michael A. Hollingsworth, Ann Harris   +6 more
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

Toxic Introns and Parasitic Intein in Coxiella burnetii : Legacies of a Promiscuous Past

, 2008
Rahul Raghavan, Linda D. Hicks, Michael F. Minnick   +2 more
openalex   +1 more source

Biased exon/intron distribution of cryptic and de novo 3' splice sites [PDF]

, 2005
Jana Královičová, Mikkel Christensen, Igor Vořechovský   +2 more
openalex   +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

Intron 4 polymorphism of the endothelial nitric oxide synthase (eNOS) gene is associated with decreased NO production in a mercury-exposed population

, 2011
Kátia Cristina de Marco, Lusânia Maria Greggi Antunes, José E. Tanus‐Santos, Fernando Barbosa   +3 more
openalex   +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

A Novel Transcriptional Slippage Mechanism Rescues Dystrophin Expression from a DMD Frameshift Variant

Annals of Neurology, EarlyView.
Pathogenic DMD variants usually follow the reading‐frame rule: out‐of‐frame changes cause Duchenne muscular dystrophy, whereas in‐frame ones produce Becker muscular dystrophy (BMD). We report a 23‐year‐old man with BMD‐like weakness, calf hypertrophy, elevated creatine kinase, and dilated cardiomyopathy.
Hiroya Naruse, Jun Mitsui, Akatsuki Kubota, So Okubo, Shuichiro Mitsuchi, Kensho Sumi, Shuichi Tanifuji, Shogo Komaki, Asuka Kitamura, Meiko Maeda, Daiki Yashita, Atsushi Sudo, Takashi Matsukawa, Masashi Hamada, Wataru Satake, Shoji Tsuji, Tatsushi Toda   +16 more
wiley   +1 more source

Self-splicing of the mobile group II intron of the filamentous fungus Podospora anserina (COI I1) in vitro. [PDF]

, 1990
U. Schmidt, Brigitte Riederer, Mario Mörl, Carlo Schmelzer, U. Ståhl   +4 more
openalex   +1 more source

Technological Innovations and Applications of Spatial Transcriptomics in Livestock and Poultry Research

Animal Research and One Health, EarlyView.
The paper is divided into three main sections: a review of the development of spatial transcriptomics technology, its applications in livestock and poultry research, and its future prospects. This article provides an overview of the current state of spatial transcriptomics in animal research, exploring its integration with multiomics technologies as ...
Mingyu Wang, Ao Guo, Lin Zhang, Shengru Wu, Juan Du, Taiyong Yu   +5 more
wiley   +1 more source