Results 81 to 90 of about 249,320 (341)

BCS1L‐Associated Disease: 5′‐UTR Variant Shifts the Phenotype Towards Axonal Neuropathy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objectives To investigate the consequences of a pathogenic missense variant (c.838C>T; p.L280F) and a 5′‐UTR regulatory variant (c.‐122G>T) in BCS1L on disease pathogenesis and to understand how regulatory variants influence disease severity and clinical presentation.
Rotem Orbach, Nunziata Maio, Russell J. Butterfield, A. Reghan Foley, Sarah Silverstein, Yan Li, Katherine Chao, Tanya J. Lehky, Abigail Potticary, Tracey A. Rouault, Sandra Donkervoort, Carsten G. Bönnemann   +11 more
wiley   +1 more source

Genomic Organization, Splice Variants and Expression of CGMl, a CD66-related Member of the Carcinoembryonic Antigen Gene Family [PDF]

, 1993
The tumor marker carcinoembryonic antigen (CEA) belongs to a family of proteins which are composed of one immunogiobulin variable domain and a varying number of immunoglobulin constant-like domains.
Afar D. E. H., Audette M., Baniyash M., Berling B., Culic O., Elsen P., Felgner P. L., Fiddes J. C., Knapp W., Kolbinger F., Kuroki M., Kuroki M., Kuroki M., Lin S.-H., Lucas K., Margolis R. N., McCuaig K., Nap M., Neumaier M., Ng S. Y., Oikawa S., Oikawa S., Paxton R., Pelegrin A., Raskind W. H., Rojas M., Sambrook J. E., Schwarz K., Shively J. E., Skubitz K. M., Southern P. J., Thompson J. A., Thompson J. A., Turbide C., Tynan K., Watt S. M., Woodgett J. R., Zhou H.   +37 more
core   +2 more sources

NOTCH2NLC Repeat Expansions in Parkinsonian Disorders: Clinical and Neuroimaging Characteristics

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Neuronal intranuclear inclusion disease (NIID) is a neurodegenerative disorder caused by NOTCH2NLC GGC repeat expansions, with heterogeneous clinical manifestations, including parkinsonism. Recent studies have identified NOTCH2NLC repeat expansions in patients with Parkinson's disease (PD) and atypical parkinsonism (aPM), suggesting ...
Han‐Lin Chiang, Kang‐Yang Jih, Cheng‐Tsung Hsiao, Fu‐Pang Chang, Justus Chunyu Chen, Yi‐Chu Liao, Yih‐Ru Wu, Yi‐Chung Lee   +7 more
wiley   +1 more source

Comparative Analysis of Novel Strains of Porcine Astrovirus Type 3 in the USA

Viruses, 2021
Porcine astrovirus type 3 (PoAstV3) has been previously identified as a cause of polioencephalomyelitis in swine and continues to cause disease in the US swine industry. Herein, we describe the characterization of both untranslated regions, frameshifting
Franco Matias Ferreyra, Karen Harmon, Laura Bradner, Eric Burrough, Rachel Derscheid, Drew R. Magstadt, Alyona Michael, Marcelo Nunes de Almeida, Loni Schumacher, Chris Siepker, Panchan Sitthicharoenchai, Gregory Stevenson, Bailey Arruda   +12 more
doaj   +1 more source

Nanobody‐Decorated Lipid Nanoparticles for Enhanced mRNA Delivery to Tumors In Vivo

Advanced Healthcare Materials, EarlyView.
This study presents a targeted mRNA‐LNP platform engineered with anti‐PSMA nanobodies for prostate cancer therapy. Using different in vivo models, the authors demonstrate selective uptake and mRNA delivery in PSMA+ cancer cells. However, while targeting is enhanced, mRNA delivery efficacy is limited by tissue penetration, tumor necrosis, and immune ...
Pol Escudé Martinez de Castilla, Vincenzo Verdi, Willemijn de Voogt, Mariona Estapé Sentí, Arnold C. Koekman, Julian Rietveld, Sven van Kempen, Qiangbing Yang, Juliette van Merris, Guido Jenster, Martin E. van Royen, Marcel H. Fens, Sander A. A. Kooijmans, Wytske M. van Weerden, Guillaume van Niel, Pieter Vader, Raymond M. Schiffelers   +16 more
wiley   +1 more source

Structure of the 5′ Untranslated Region of Enteroviral Genomic RNA [PDF]

Journal of Virology, 2019
Enterovirus infections are responsible for human diseases, including myocarditis, pancreatitis, acute flaccid paralysis, and poliomyelitis. The virulence of these viruses depends on efficient recognition of the RNA genome by a large family of host proteins and protein synthesis factors, which in turn relies on the three-dimensional folding of the first
Bejan Mahmud, Christopher M. Horn, William Tapprich   +2 more
openaire   +3 more sources

Decoding the genome of SARS-CoV-2: a pathway to drug development through translation inhibition

RNA Biology
The severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) causes the coronavirus disease 2019 (COVID-19) pandemic and is continuously spreading globally.
Shan-Na Wu, Ting Xiao, Hui Chen, Xiao-Hong Li   +3 more
doaj   +1 more source

POEM, A 3-dimensional exon taxonomy and patterns in untranslated exons

BMC Genomics, 2008
Background The existence of exons and introns has been known for thirty years. Despite this knowledge, there is a lack of formal research into the categorization of exons.
Chonka Ashley, Knapp Keith, Chen Yi-Ping
doaj   +1 more source

The 3′UTR VNTR SLC6A3 Genetic Variant and Major Depressive Disorder: A Systematic Review

Biomedicines, 2023
Major Depressive Disorder (MDD) is a disabling and particularly persistent mental disorder that is considered to be a priority public health problem. The active human dopamine transporter (DAT), which is encoded by the SLC6A3 gene, regulates the dopamine
Bruna Rodrigues Gontijo, Isabella Possatti, Caroline Ferreira Fratelli, Alexandre Sampaio Rodrigues Pereira, Larissa Sousa Silva Bonasser, Calliandra Maria de Souza Silva, Izabel Cristina Rodrigues da Silva   +6 more
doaj   +1 more source

Cloning of a Carcinoembryonic Antigen Gene Family Member Expressed in Leukocytes of Chronic Myeloid Leukemia Patients and Bone Marrow [PDF]

, 1990
The carcinoembryonic antigen (CEA) gene family belongs to the immunoglobulin superfamily and can be subdivided into the CEA and pregnancy-specific glycoprotein subgroups.
Berling, Barbara, Brombacher, Frank, Buchegger, Franz, Grunert, Fritz, Kleist, Sabine von, Kolbinger, Frank, Thompson, John A., Zimmermann, Wolfgang   +7 more
core   +1 more source