Results 221 to 230 of about 482,093 (336)

Autoregulation of RPL7B by inhibition of a structural splicing enhancer. [PDF]

Nucleic Acids Res
Granas D, Hewa IG, White MA, Stormo GD.
europepmc   +1 more source

Related genes can have unrelated introns [PDF]

, 1982
Athel Cornish‐Bowden
openalex   +1 more source

Minor intron splicing is regulated by FUS and affected by ALS‐associated FUS mutants

EMBO Journal, 2016
Stefan Reber, Jolanda Stettler, G. Filosa, M. Colombo, Daniel Jutzi, S. C. Lenzken, Christoph Schweingruber, R. Bruggmann, A. Bachi, S. Barabino, O. Mühlemann, M. Ruepp   +11 more
semanticscholar   +1 more source

Diagnostic Yield of Genome Sequencing Versus Exome Sequencing in Pediatric Patients With Rare Phenotypes: A Systematic Review and Meta‐Analysis

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Rare diseases affect 6% of Western societies and are a leading cause of pediatric mortality. The popularization of Next Generation Sequencing technologies, especially exome sequencing (ES), revolutionized the diagnosis of children with rare disease. Still, most patients face extensive diagnostic odysseys and remain undiagnosed.
Anna Luiza Braga Albuquerque, Giovanna Giovacchini dos Santos, Sara Hadj Sadok, Breno Bopp Antonello, Lorena Melo de Jesus, Maria Eduarda Andrade de Carvalho, Antonio Mutarelli, Paulo Victor Zattar Ribeiro   +7 more
wiley   +1 more source

CD8+ T cell memory is sustained in mice by hepatic stellate cells

Hepatology, EarlyView., 2022
HSC role in memory CD8+ T cell maintenance. Abstract Background and Aims Long‐lasting immunological memory is the ultimate goal of vaccination. Homeostatic maintenance of memory CD8+ cytotoxic T cells (MemCD8TCs) is thought to be mediated by IL‐15/IL‐15R heterodimer (15HD)‐expressing myeloid cells.
Yi‐Ting Chen, Yu‐Chia Su, Yee‐Ern Or, Chin‐Fu Cheng, John T. Kung   +4 more
wiley   +1 more source

M6A-dependent RNA condensation underlies FUS autoregulation and can be harnessed for ALS therapy development. [PDF]

Sci Adv
Huang WP, Kumar V, Yap K, An H, John SJ, Hodgson RE, Avila AS, Day E, Ellis BCS, Chung TH, Lord J, Müller-McNicoll M, Makeyev EV, Shelkovnikova TA.   +13 more
europepmc   +1 more source

Molecular biology: No introns in insect globin genes [PDF]

, 1984
Athel Cornish‐Bowden
openalex   +1 more source

The Expanding Clinical and Genetic Spectrum of Muscle Glycogen Storage Disease 0, (GSD0B)

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Glycogen storage disorders are a group of genetic disorders affecting glucose homeostasis in the body. Muscular glycogen stores are essential for liberating glucose for energy supply during bursts of activity and sustained muscle work. Muscle glycogen storage disease 0 (GSD0B) is associated with biallelic variants in GYS1 causing muscular ...
Sarah Donoghue, Smitha Kumble, Pontus Wasling, Lars Alberg, Pia Linton‐Dahlöf, Yilmaz Yildiz, İlker Ertuğrul, Terry Derks, Dwight Koeberl, Emmeline Lagrange, Sabrina Vergnaud, Lidia Pezzani, Maria Iascone, Zornitza Stark, Adam M. Bournazos, Sandra T. Cooper, Gittan Kollberg   +16 more
wiley   +1 more source

TP53 R249S mutation in hepatic organoids captures the predisposing cancer risk

Hepatology, EarlyView., 2022
The systematic approach in elucidating the gain‐of‐function (GOF) roles of TP53 mutations in early liver carcinogenesis. Unique downstream targets of TP53 L3 mutations were identified from chormatin immunoprecipitation sequencing in HCC cell lines, followed by a series of validation assays to substantiate the exclusive transcriptional regulations ...
Yin Kau Lam, Jianqing Yu, Hao Huang, Xiaofan Ding, Alissa M. Wong, Howard H. Leung, Anthony W. Chan, Kelvin K. Ng, Mingjing Xu, Xin Wang, Nathalie Wong   +10 more
wiley   +1 more source

Intron Retention and Alzheimer's Disease (AD): A Review of Regulation Genes Implicated in AD. [PDF]

Genes (Basel)
El-Seedy A, Ladevèze V.
europepmc   +1 more source