Results 151 to 160 of about 132,731 (277)

Isolated absence epilepsy associated with a de novo FBXW7 missense variant in the F‐box domain

Epilepsia Open, EarlyView.
Abstract The FBXW7 gene encodes a substrate‐recognition component of the Skp1‐Cul1‐F‐box (SCF) E3 ubiquitin ligase complex, which targets key regulatory proteins for proteasomal degradation. Recently, loss‐of‐function FBXW7 variants have been associated with a novel neurodevelopmental disorder characterized by heterogeneous clinical features.
Anees Muhammad, Mohammad Sadegh Shams Nosrati, Alireza Dostmohammadi, Francesca Madia, Maria Margherita Mancardi, Stefania Fornarino, Luca Bosisio, Zahra Hoseini Tavassol, Mir Davood Omrani, Federico Zara, Marcello Scala   +10 more
wiley   +1 more source

”Not always the magic bullet”—Insufficient seizure control by ketogenic dietary therapies in Glut1 Deficiency Syndrome

Epilepsia Open, EarlyView.
Abstract Objective Ketogenic dietary therapies (KDTs) are the treatment of choice for Glut1 Deficiency Syndrome (Glut1DS), providing dietary ketones as an alternative fuel to the brain and effectively controlling seizures. Recent evidence indicates insufficient seizure control in Glut1DS patients despite adequate KDT and ketosis.
Joerg Klepper, Eva Runkel, Lucia Kiesel
wiley   +1 more source

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

Lecithin-Cholesterol Acyltransferase Deficiency as a Rare Cause of Bilateral Corneal Opacities: A Case Report of a Novel Frameshift Mutation. [PDF]

Case Rep Ophthalmol
Mendes J, Mendes F, Fortunato DV, Garrido JV, Condesso R, Candeias A.   +5 more
europepmc   +1 more source

Detection of MSI signals from peripheral blood for monitoring response to immune checkpoint blockade therapy in patients with advanced microsatellite‐unstable gastrointestinal cancers: A pilot study

International Journal of Cancer, EarlyView.
What's New? A substantial proportion of patients with microsatellite‐unstable gastrointestinal adenocarcinomas do not benefit from immunotherapy. This study demonstrates that microsatellite instability can be reliably detected in plasma‐derived extracellular vesicle DNA from patients with microsatellite‐unstable gastrointestinal cancers.
Aysel Ahadova, Lena Bohaumilitzky, Thomas Walle, Joscha A. Kraske, Mirjam Tariverdian, Ulrike Ganserer‐Schmitt, Ingrid Hausser‐Siller, Vera Fuchs, Nina Nelius, Gizem Mehtap Erisen, Johannes Gebert, Albrecht Stenzinger, Dirk Jäger, Magnus von Knebel Doeberitz, Georg Martin Haag, Elena Busch, Matthias Kloor   +16 more
wiley   +1 more source

Thyroid-originated pleomorphic rhabdomyosarcoma with novel TP 53 intron frameshift mutation: a case report and literature review. [PDF]

World J Surg Oncol
Zhao Q, Lv B, Li L, Sheng L, Shao Y.
europepmc   +1 more source

An Integrated Genotyping Strategy for α/β‐Thalassemia: Based on the Analysis of the Coding Sequences and Expression Levels of HBA2, HBA1, and HBB in Peripheral Blood mRNA

Journal of Clinical Laboratory Analysis, EarlyView.
We have developed an integrated mRNA‐based strategy for thalassemia genotyping. Its characteristics included using only three Sanger sequencing reactions to analyze the full‐length coding sequence of HBA2, HBA1 and HBB, and employing a new multiple quantitative fluorescence PCR to simply assess and present the impact of common mutations on the ...
Hongjian Chen, Qi Yao, Mianai Fu
wiley   +1 more source

A novel <i>ANK1</i> frameshift mutation associated with neonatal hereditary spherocytosis: a case report. [PDF]

Front Pediatr
Qing X, Zhu J, Zhu X, Zhang Y, Deng J, Tang B.   +5 more
europepmc   +1 more source

Case report: A frameshift mutation in CLCN2-related leukoencephalopathy and retinopathy. [PDF]

Front Genet, 2023
Cheng Y, Liu X, Sun L, Ding X.
europepmc   +1 more source

Mutations: Frameshift Suppressors [PDF]

Nature New Biology, 1972
openaire   +1 more source