Results 151 to 160 of about 394,012 (302)

Artificial intelligence in the assessment of epilepsy‐related genetic mutations: Learned from GABAA receptors and GABA transporter 1

Epilepsia Open, EarlyView.
Abstract This review examines how recent genetic and technological advances have transformed our understanding and treatment of genetic epilepsies (GEs), with a focus on disorders involving GABAA receptors (GABRs) and the GABA transporter 1 (GAT‐1) encoded by SLC6A1.
Juexin Wang, Jing‐Qiong Kang
wiley   +1 more source

KCNQ2 neonatal epilepsy: Impact of prompt diagnosis and treatment, and early predictors of outcome severity

Epilepsia Open, EarlyView.
The impact of prompt diagnosis and treatment, and early predictors of outcome severity in this cohort. Abstract Objective To determine whether prompt genetic diagnosis in children with KCNQ2 neonatal epilepsy enabling targeted therapy is associated with improved outcomes, and identify early predictors of developmental outcomes.
Trupti Jadhav, Sophie E. Bouffler, Emily Innes, Michael Fahey, Matthew Hunter, Kavitha Kothur, Sebastian Lunke, Matthew Lynch, Emma Macdonald‐Laurs, Elizabeth Emma Palmer, Chirag Patel, Jason Pinner, Kate Riney, Rani Sachdev, Sarah A. Sandaradura, Ingrid E. Scheffer, Zornitza Stark, Katherine B. Howell   +17 more
wiley   +1 more source

Neurolathyrism in Sub‐Saharan Africa—Assessing the Neurotoxic Risks of Lathyrus sativus Amid Drought and Food Security Challenges

Food Safety and Health, EarlyView.
Representation of grass pea consumption in drought‐stricken sub‐Saharan Africa sustains nutrition, but excess β‐ODAP exposure due to multiple reasons triggers neurolathyrism, a progressive neurotoxic disorder. ABSTRACT Neurolathyrism is a progressive motor neuron disease due to the consumption of Lathyrus sativus (grass pea) over long periods.
Biruk Demisse Ayalew, Muhammad Umar, Pakeezah Tabasum, Maria Qadri, Talha Farooq, Eskeatnaf Yosef Getachew, Zemichael Getu Alemayehu, Eden Haile Hagos, Hailemariam Shimelis Gebeyehu, Hanna Tsehay Abebe, Nuradin Abdi Ali, David Chinaecherem Innocent, Temesgen Mamo Sharew   +12 more
wiley   +1 more source

De novo TANC2 stop‐loss variant associated with developmental impairment and drug‐resistant epilepsy

Epileptic Disorders, EarlyView.
Matthew A. Hintermayer, Kenneth A. Myers
wiley   +1 more source

Frameshift mutation [PDF]

, 2019
  +6 more sources

A multilevel perspective on MSH6‐associated Lynch syndrome: Integrating molecular, biological, and clinical insights

International Journal of Cancer, EarlyView.
Abstract Lynch syndrome (LS) is the most common hereditary colorectal cancer syndrome, caused by a germline pathogenic variant in one of the mismatch repair (MMR) genes. Among these, MSH6‐associated LS represents a distinct subtype with unique molecular and clinical characteristics.
Salwa Ben Yahia, Anne‐Sophie van der Werf‐'t Lam, Madalina Cabuta, Maartje Nielsen, Noah C. Helderman   +4 more
wiley   +1 more source

RNA G-quadruplexes promote codon repeat-associated ribosomal frameshifting in human genes. [PDF]

Nucleic Acids Res
Li X, Li Z, Zhou Y, Gong S, Chen Z, Li J, Guo M, Gu X, Li F, Wei J, Zhong T, Yin T, Li T, Xing Y, Yang X, Xu L, Lai F, Dang Y, Ren G.   +18 more
europepmc   +1 more source

Mechanisms regulating ribosomal frameshifting in decoding Ornithine Decarboxylase Antizyme mRNA [PDF]

, 2009
Kurian, Leo
core  

L‐EasyARG: A long‐read metagenomics tool for rapid antibiotic‐resistance‐gene profiling

iMetaOmics, EarlyView.
L‐EasyARG is a pipeline for long‐read metagenomic profiling of antibiotic resistance genes (ARGs) and their genetic context. It integrates ARG identification, plasmid and mobile genetic element (MGE) detection, taxonomic classification, and further identifies ARGs carried by human bacterial pathogens (HBPs) defined in the WHO and ESKAPE pathogen lists.
Yongxin Li, Mingchao Wang, Xiaohui Liu, Junhua Wu, Yujie Mao, Caili Zhang, Qingru Chen, Zhi Wang, Gongchao Jing, Maozhen Han   +9 more
wiley   +1 more source

Kinetic Traps in RNA Folding: Targeted Design of Frameshifting Element Mutants by Thermodynamic and Kinetic Analysis of the Chikungunya Virus. [PDF]

J Phys Chem B
Lee S, Schlick T.
europepmc   +1 more source