Results 151 to 160 of about 45,616 (250)

Optical mapping reveals a higher level of large‐scale structural variants in a family with paternally transmitted myotonic dystrophy and independent Parkinson's disease

The Journal of Pathology, EarlyView.
Abstract Myotonic dystrophy type 1 (DM1) is a clinically challenging multisystem neuromuscular hereditary disorder, with generational increase in severity and earlier age at onset. It is caused by an unstable cytosine‐thymine‐guanine repeat expansion at the DMPK locus, accompanied by associated genetic and epigenetic modifications.
Md Mehedi Hasan, Jenna Craddock, Tingting Gong, Ruth J Lyons, Igor Stevanovski, Sanjog R Chintalaphani, Ira W Deveson, Weerachai Jaratlerdsiri, Kishore R Kumar, Vanessa M Hayes   +9 more
wiley   +1 more source

Qualitative analysis of the impact of palm and sesame oil on liver tissue health: can histology aid diagnosis? [PDF]

Gastroenterol Hepatol Bed Bench
Zhaleh M, Moradi M, Ahookhash M.
europepmc   +1 more source

Prenatal Spectrum of COL2A1‐Related Spondyloepiphyseal Dysplasia Congenita: A Review and Two Case Reports

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective To review the published literature on prenatal findings of COL2A1‐related SEDC, summarizing reported imaging and molecular variants, and to describe two additional prenatal cases evaluated at a tertiary referral center. Method A narrative review with a systematic search strategy was conducted to analyze prenatal imaging findings ...
López‐Rodríguez Larissa, León‐Madero Luis Felipe, Jiménez‐Chaidez Salvador, Gallardo‐Gaona Juan Manuel, Rodríguez‐Sibaja María Jose, Castañeda‐de‐la‐Fuente Angelica, Del Castillo‐Reyes Katia Alejandra, Yañez‐Felix Ana Lucia, Morales‐Dominguez Valeria, Borboa‐Olivares Héctor Jesús, Sevilla‐Montoya Rosalba   +10 more
wiley   +1 more source

Extracellular vesicles-mediated delivery of SpCas9 RNPs for therapeutic gene editing in Spinocerebellar Ataxia Type 3. [PDF]

Biomaterials
Leandro K, Rufino-Ramos D, Lopes SM, Silva FS, Rodrigues-Santos P, Silva AC, Fernandes AR, Henriques C, Pereira D, Lobo D, Gabriel GL, Faro R, Nobre RJ, Perdigão PRL, Kleinstiver BP, de Almeida LP.   +15 more
europepmc   +1 more source

Branched‐Chain Amino and Keto Acids Reduce Hepatocyte Lipid Droplet Size and Number via Distinct Proteomic Pathways

PROTEOMICS, EarlyView.
ABSTRACT Branched‐chain amino acids (BCAA) and their corresponding keto acids (BCKA) have been associated with changes in hepatic lipid metabolism and the resulting alterations in intracellular triglyceride concentrations. In this study, we utilized a previously established hepatocyte model to investigate the impact of BCAA and BCKA supplementation on ...
Jayasimha R. Daddam, Mounica Sura, Edward Kolodziej, Maria Gojcaj, Zheng Zhou   +4 more
wiley   +1 more source

Preliminary Genotoxicity Assessment of Calcium Phosphate Cement Incorporated with Palm Tocotrienol Using Bacterial Reverse Mutation Assay. [PDF]

Biomedicines
Wong SK, Md Dali SS, Chin KY, Ahmad F, Ariffin AH, Fauzi FM, Mahmud MZ, Ahmad Sabri IH.   +7 more
europepmc   +1 more source

Controlling banana bunchy top disease in Benin: Crop protection strategies with socio‐economic perspectives

PLANTS, PEOPLE, PLANET, EarlyView.
Banana and plantain are vital for food security and income in West Africa, yet banana bunchy top virus (BBTV) threatens production. This study combined remote sensing, field surveys, modelling and socio‐economic analysis to assess BBTV spread and control strategies in Benin.
Renata Retkute, Martine Zandjanakou‐Tachin, Bonaventure Aman Omondi, Ulrich Roland Agoi, Yaovi Marc Vodounou, Hermine Akofodji, Evrard Akpla, Laurence Dossou, Emiline Médénou, Alban Etchiha, Alphonse Attadéou, P. Lava Kumar, John E. Thomas, Christopher A. Gilligan   +13 more
wiley   +1 more source

Genetic Diagnosis and Discovery Enabled by Large Language Models. [PDF]

Adv Sci (Weinh)
Tu T, Saab K, Liu W, Fang Z, Cheng Z, Spasic S, Djurisic M, Mohri H, Ren W, Palepu A, Gottweis J, Karthikesalingam A, Kulkarni K, Pawlosky A, Bonner D, Kravets E, Marwaha S, Mendez HR, Wheeler MT, Bernstein JA, Undiagnosed Diseases Network, Tsai CY, Wu CC, Stankovic KM, Natarajan V, Peltz G.   +25 more
europepmc   +1 more source

Nutritional properties, traditional uses and potential new applications for the sotol plant (Asparagaceae, Convallarioideae): A review

PLANTS, PEOPLE, PLANET, EarlyView.
Sotol (Dasylirion spp.) is a resilient desert plant that sustains ecosystems, cultures and livelihoods in Chihuahua Desert. Our review highlights its nutritional properties, traditional uses and potential new applications in food, pharmaceuticals, renewable energy and water remediation. By synthesizing evidence across disciplines, we show how sotol can
Dámaris Leopoldina Ojeda Barrios, Antonio Martínez Ruiz, Marisela Calderón Jurado, Ramón Saúl Luján Aguirre, Juan Luis Jacobo Cuellar, Oscar Sariñana‐Aldaco, María Teresa Martínez Damián, Oscar Cruz Alvarez   +7 more
wiley   +1 more source

A Low-Cost Laser Interferometric Elastography System for Skin Elasticity Measurement. [PDF]

Bioengineering (Basel)
Parmar A, Chauhan S, Alghziwatalkhawaldh S, Singh K.   +3 more
europepmc   +1 more source