Results 111 to 120 of about 36,538 (290)

Divergent Delivery and Expression Kinetics of Lipid and Polymeric Nanoparticles across mRNA Modalities

Advanced Science, EarlyView.
Self‐amplifying (saRNA), linear (linRNA), and circular (circRNA) mRNAs are compared under standardized conditions using lipid nanoparticles (LNPs) and pABOL polymer. saRNA achieved superior expression, while linRNA and circRNA performance varied based on untranslated region elements and delivery method.
Irafasha C. Casmil, Josh J. Friesen, Nuthan V. Bathula, Anneke Strumpel, Chia Hao Ho, Ilana Guez, Kristen Y. S. Kong, Andrew J. Varley, Shigeki J. Miyake‐Stoner, Parinaz Aliahmad, Nathaniel S. Wang, Andrew J. Geall, Anna K. Blakney   +12 more
wiley   +1 more source

Thirteen year retrospective review of the spectrum of inborn errors of metabolism presenting in a tertiary center in Saudi Arabia [PDF]

, 2016
BACKGROUND: Inborn errors of metabolism (IEMs) are individually rare; however, they are collectively common. More than 600 human diseases caused by inborn errors of metabolism are now recognized, and this number is constantly increasing as new concepts ...
Abdullah Alzaben, Ahmed A. Alfares, Ali Al Othaim, Fuad Al Mutairi, Majid Alfadhel, Mohammad Arif Hossain, Mohammed Al Balwi, Mohammed Benmeakel, Wafaa Eyaid   +8 more
core   +1 more source

Using Sensory Analysis and Stated Preference Valuation to Assess the Willingness to Pay for Fresh Tomato Attributes

Agribusiness, EarlyView.
ABSTRACT This study combines sensory analysis and stated preference valuation techniques to assess the monetary value of organoleptic attributes of new tomato varieties. The tomatoes evaluated included two new varieties adapted to South Texas growing conditions, a commercial check, and tomatoes imported from Mexico.
Samuel D. Zapata, Xavier A. Villavicencio, Thiago G. Marconi, Carlos A. Avila   +3 more
wiley   +1 more source

Thought of distinguishing pathogenic gene mutation from no harm mutation in clinical practice

Chinese Journal of Contemporary Neurology and Neurosurgery, 2017
DOI: 10.3969/j.issn.1672-6731.2017.08 ...
Cheng ZHANG
doaj  

Machine Learning‐Assisted Infectious Disease Detection in Low‐Income Areas: Toward Rapid Triage of Dengue and Zika Virus Using Open‐Source Hardware

Advanced Intelligent Discovery, EarlyView.
This study introduces an affordable machine learning platform for simultaneous dengue and zika detection using fluorine‐doped tin oxide thin films modified with gold nanoparticles and DNA aptamers. Designed for low‐cost, hardware‐limited devices (< $25), the model achieves 95.3% accuracy and uses only 9.4 kB of RAM, demonstrating viability for resource‐
Marina Ribeiro Batistuti Sawazaki, Bassam Bachour Junior, Marcelo Mulato, José Ilton de Oliveira Filho   +3 more
wiley   +1 more source

Tissue microarrays for testing basal biomarkers in familial breast cancer cases

São Paulo Medical Journal
CONTEXT AND OBJECTIVE: The proteins p63, p-cadherin and CK5 are consistently expressed by the basal and myoepithelial cells of the breast, although their expression in sporadic and familial breast cancer cases has yet to be fully defined.
Rozany Mucha Dufloth, Irina Matos, Fernando Schmitt, Luiz Carlos Zeferino   +3 more
doaj   +1 more source

The prevalence of phenylketonuria among children with mental retardation in Kelantan [PDF]

, 2001
The prevalence of phenylketonuria (PKU) in Malaysia to date is not known since no study has been conducted to address the subject. The objectives of this study were to determine the prevalence of PKU among the mentally retarded children in Kelantan, to ...
Omar, Julia
core   +1 more source

Characterizing the Healthcare Utilization and Costs of Hereditary Hemorrhagic Telangiectasia

American Journal of Hematology, EarlyView.
ABSTRACT Hereditary hemorrhagic telangiectasia (HHT) is the second‐most common inherited bleeding disorder worldwide, afflicting one in 4000–5000 people, and is the most morbid inherited bleeding disorder of women. HHT causes recurrent severe epistaxis, chronic gastrointestinal bleeding, heavy menstrual bleeding, and arteriovenous malformations in the ...
Hanny Al‐Samkari, Tracy J. Mayne, Misty Troutt, Hemant Patle, Marianne Clancy, Eric Duhaime   +5 more
wiley   +1 more source

Phenotypic Characterization of Seven Pediatric Patients Diagnosed With KAT6B‐Related Disorders: Case Series and Review of the Literature

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Genitopatellar syndrome (GPS) and Say‐Barber‐Biesecker‐Young‐Simpson Syndrome (SBBYSS) are clinically distinct neurodevelopmental disorders caused by monoallelic pathogenic variants in KAT6B. In some cases, GPS and SBBYSS features can overlap, determining an intermediate phenotype.
Vittorio Maglione, Antonio Pizzuti, Gioia Mastromoro, Eleonora Cresta, Paola Favata, Maria Cristina Digilio, Rossella Capolino, Maria Lisa Dentici, Lorenzo Sinibaldi, Antonio Novelli, Marco Tartaglia, Gianluca Terrin, Viviana Cardilli   +12 more
wiley   +1 more source

Worth the Effort: Lessons for Discovery and Care From an Unusual Case of Gorlin Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Gorlin‐Goltz Syndrome (GGS) is a rare autosomal dominant genetic disorder encompassing a diverse range of clinical manifestations, including congenital anomalies and predisposition to cancer. Pathogenic variants in PTCH1 and SUFU account for up to 79% and 6% of cases, respectively. Currently, an estimated 15%–27% of individuals with a clinical
V. Taliercio, J. Zhao, S. E. Boyden, R. Mao, P. Bayrak‐Toydemir, A. Pflaum, J. Palumbos, A. Andrews, E. E. Baldwin, C. Welt, Mackenzie Fait, Undiagnosed Diseases Network, L. D. Botto, D. Viskochil   +13 more
wiley   +1 more source