Results 91 to 100 of about 61,249 (214)

Exome Sequencing Identifies Variants in MLH1 and ERBB2 as Potential Cancer‐Predisposing Factors in Familial Early‐Onset Colorectal Cancer

The Kaohsiung Journal of Medical Sciences, EarlyView.
ABSTRACT Colorectal cancer (CRC) has raised considerable health concerns worldwide, with increasing incidence rates, specifically among younger populations. Despite remarkable progress in diagnosing and treating various diseases, the genetic basis of CRC remains only partially understood.
Behnaz Bagheri, Neda Mohsen‐Pour, Najmeh Salehi, Pardis Ketabi Moghadam, Adel Zeinalpour, Amir Sadeghi, Samira Kalayinia, Nayeralsadat Fatemi   +7 more
wiley   +1 more source

Antithrombin: Deficiency, Diversity, and the Future of Diagnostics

Mass Spectrometry Reviews, EarlyView.
ABSTRACT Our healthcare system provides reactive sick‐care, treating patients after symptoms have appeared by prescription of generic and often suboptimal therapy. This strategy brings along high costs and high pressure which is not sustainable.
Mirjam Kruijt, Christa M. Cobbaert, L. Renee Ruhaak   +2 more
wiley   +1 more source

FXTAS and the Spectrum of FMR1 Premutation‐Associated Phenotypes in Latin America: A Scoping Review

Movement Disorders Clinical Practice, EarlyView.
Abstract Background Fragile X–associated tremor/ataxia syndrome (FXTAS) is a late‐onset neurodegenerative disorder caused by FMR1 premutation expansions (55–200 CGG repeats). Although well described in populations of predominantly European ancestry, FXTAS remains poorly characterized in Latin America due to limited awareness, restricted access to ...
Amy Schmidmajer, Salomón Páez‐García, Santiago Martínez, Jacobo Ramírez‐Triana, Kevin O'Hara‐Veintimilla, Andrés Ricaurte‐Fajardo, Catalina Cerquera‐Cleves   +6 more
wiley   +1 more source

Molecular Diagnostics in Thyroid Nodules: Current Applications, Clinical Value, and Future Perspective

Med Research, EarlyView.
ABSTRACT Molecular diagnostics have become an important adjunct to ultrasonography and fine‐needle aspiration (FNA) for thyroid nodules, especially in Bethesda III/IV cytology where malignancy risk is uncertain. This narrative review summarizes the diagnostic and prognostic value of key genomic drivers (BRAF V600E, RAS, RET, TERT, and selected fusions)
Guohui Xiao, Min Ding, Zhixue Min, Yihan Dong, Xuanye Cao, Qiang Lu, Cong Chen, Yahui Wu, Xin Guo, Zhen Wu, Jing Xie, Dan Xu, Haizhen Chen, Rongli Xie, Jian Fei   +14 more
wiley   +1 more source

Smart Integration of Structural Biology and Medicinal Chemistry to Unlock Target‐Driven Drug Discovery

Medicinal Research Reviews, EarlyView.
ABSTRACT To enhance drug discovery efforts, medicinal chemists should evaluate, filter, and utilize relevant structural information about target proteins. Acquiring and interpreting protein structures is crucial for elucidating ligand‐receptor interactions and addressing ADME‐related considerations, making it an essential aspect of medicinal chemistry.
Matteo Rossi Sebastiano, Giulia Apprato, Serena Francisco, Giuseppe Ermondi, Giulia Caron   +4 more
wiley   +1 more source

Isolation, Identification and Pathogenicity Analysis of Proteus mirabilis in Cynomolgus Monkey From Yunnan, China. [PDF]

Vet Med Sci
This study demonstrated that the pathogen responsible for diarrhoea in a cynomolgus monkey was identified as Proteus mirabilis (P. mirabilis) through methods including bacterial isolation and culture, morphological examination, biochemical profiling, 16S rRNA sequencing, analysis of key virulence genes and bacterial artificial infection tests.
Li H, Qian Z, Luo L, Chen X, Tian B, Chen Z, Wang H.   +6 more
europepmc   +2 more sources

Yield of Whole Genome Sequencing for Pathogenic Single Nucleotide Variants in Congenital Heart Disease: A Systematic Review and Meta‐Analysis

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective This systematic review and meta‐analysis aimed to assess the diagnostic yield of pathogenic or likely pathogenic (P/LP) single nucleotide variants (SNVs) using whole genome sequencing (WGS) in congenital heart disease (CHD). Methods A systematic search of three databases (2000–2024) was conducted, and two reviewers independently ...
Hiba J. Mustafa, Parisa Najjariasl, Faezeh Aghajani, Enaja V. Sambatur, Andrew Rodenbarger, Stephanie Guseh, Amy E. Roberts, Alireza A. Shamshirsaz   +7 more
wiley   +1 more source

Current Insight into Human Ornithine Aminotransferase: A Review

Proteins: Structure, Function, and Bioinformatics, EarlyView.
ABSTRACT Human ornithine aminotransferase (hOAT) is a mitochondrial matrix pyridoxal‐5′‐phosphate enzyme (PLP) that catalyzes the reversible transfer of the δ‐amino group of L‐ornithine (L‐Orn) to α‐ketoglutarate (α‐KG) yielding glutamate‐5‐semialdehyde (GSA) and glutamate. GSA is prone to cyclize to Δ1‐pyrroline‐5‐carboxylate.
Fulvio Floriani, Carla Borri Voltattorni, Riccardo Montioli   +2 more
wiley   +1 more source

Noise‐Induced Hearing Loss: From Pathological Mechanisms to Therapeutic Interventions

Sensory Neuroscience, EarlyView.
ABSTRACT Noise‐induced hearing loss (NIHL), a significant non‐genetic form of hearing impairment, is primarily managed through the use of hearing aids and cochlear implants. However, the fundamental pathological mechanisms underlying NIHL remain inadequately addressed.
Shiqi Huang, Yu Xiao, Jiaxin Liu, Wen Jiang, Weiwei Shi, Hanbing Zhang, Xiaolong Fu, Yunhao Wu   +7 more
wiley   +1 more source

The impact of Synaesthesia on inclusive teaching and learning: A systematic literature review

British Journal of Special Education, EarlyView.
Abstract Synaesthesia is a neurodevelopmental phenomenon involving consistent, involuntary cross‐modal sensory experiences. Though well‐documented in cognitive neuroscience, its implications for educational practice remain underexplored. This systematic narrative literature review investigates how synaesthesia may impact children's learning and inform ...
Alexandra Sewell, Alison Kington, Samantha Davies   +2 more
wiley   +1 more source