Results 231 to 240 of about 10,347 (278)

Precision therapies for genetic epilepsies in 2025: Promises and pitfalls

Epilepsia Open, EarlyView.
Abstract By targeting the underlying etiology, precision therapies offer an exciting paradigm shift to improve the stagnant outcomes of drug‐resistant epilepsies, including developmental and epileptic encephalopathies. Unlike conventional antiseizure medications (ASMs) which only treat the symptoms (seizures) but have no effect on the underlying ...
Shuyu Wang, Emilio Perucca, Samuel F. Berkovic, Piero Perucca   +3 more
wiley   +1 more source

Meiotic pairing and gene expression disturbance in germ cells from an infertile boar with a balanced reciprocal autosome-autosome translocation

, 2016
Harmonie Barasc, Congras, Annabelle, Nicolas Mary, Lidwine Trouilh, Marquet, Valentine, Stéphane Ferchaud, Isabelle Raymond‐Letron, Nicolas Mary, Anne-Marie Loustau, Mouney, Nathalie, Hervé Acloque, Alain Ducos, Alain Pinton   +12 more
openalex   +1 more source

Neonatal seizures: Advances in diagnosis and management

Epilepsia Open, EarlyView.
Abstract The International League Against Epilepsy (ILAE) created the ILAE Neonatal Task Force that classified neonatal seizures, defined neonatal epilepsy syndromes, and specified treatment guidelines. These frameworks, in addition to improved access to genetic testing and other recent advances, have revolutionized the diagnosis and management of ...
Elissa G. Yozawitz, Ronit M. Pressler, Eli M. Mizrahi   +2 more
wiley   +1 more source

Distinctive genetic architecture of infantile epileptic spasms syndrome compared to self‐limited infantile epilepsy by trios whole‐exome sequencing

Epilepsia Open, EarlyView.
Abstract Objective Infantile epileptic spasms syndrome (IESS) and self‐limited infantile epilepsy (SeLIE) are both genetically heterogeneous disorders during infancy with distinct prognoses. To better define the genetic spectrum of IESS, we performed a comparative genetic analysis using SeLIE cases as a reference group. Methods We performed whole‐exome
Yihong Sun, Ningning Chen, Congjie Chen, Weitian Lu, Qian Wan, Tingsong Li, Yupeng Cun   +6 more
wiley   +1 more source

EGR1 Nuclear Condensates Promote Renal Cyst Development in Polycystic Kidney Disease

Exploration, EarlyView.
ABSTRACT Autosomal dominant polycystic kidney disease (ADPKD) is marked by aberrant cell proliferation driven by cAMP‐PKA and MAPK signaling pathways. EGR1, a transcription factor directly activated by the above two pathways, is critical in the over‐proliferation of tumor cells, which share similarities with cystic epithelial cells in ADPKD. This study
Chaoqun Ren, Zhaoxu Wu, Min Li, Yaqin Du, Hong Zhou, Yazhu Quan, Mengyao Xiong, Yiming Wang, Zhiwei Qiu, Shuai Zhu, Xiaowei Li, Jinzhao He, Cai Gao, Hui Cai, Tingting Li, Baoxue Yang   +15 more
wiley   +1 more source

From mechanism to phenotype: What fits in a basket trial

Epilepsia, EarlyView.
Kette D. Valente
wiley   +1 more source

Noninvasive Disease Diagnostics: The Swiss Contribution Highlights to Breath Analysis Research

Helvetica Chimica Acta, EarlyView.
Breath analysis networks across Switzerland linking health monitoring, clinical applications, population studies, and data‐driven public health decisions. ABSTRACT To celebrate the 125th anniversary of the Swiss Chemical Society, we present a review and perspective to highlight the recent research in breath analysis that has been conducted in ...
Stefan James Swift, Kseniya Dryahina, Patrik Španěl, Flora Kontopidou, Christos Kokkotis, Renato Zenobi, Stamatios Giannoukos   +6 more
wiley   +1 more source

Organ‐sparing strategies in patients with MSI/dMMR tumors including Lynch syndrome: Current state of the art and future perspectives for clinical decision‐making

International Journal of Cancer, EarlyView.
Abstract Deficiency in DNA mismatch repair (dMMR) is a common pathway of carcinogenesis across different tumor types and confers a characteristic microsatellite instability‐high (MSI‐H) molecular phenotype. The MSI‐H/dMMR phenotype may arise from an inherited pathogenic variant in the context of Lynch syndrome and is most frequently observed in ...
Martin Duval, Antoine Dardenne, Thomas Samaille, Leo Mas, Jérémie H. Lefèvre, Xavier Dray, Mathilde Wagner, Romain Cohen, Thierry André   +8 more
wiley   +1 more source

Outcomes from the English National Lynch Syndrome transformation project

International Journal of Cancer, EarlyView.
What's New? The elevated cancer risk conferred by Lynch syndrome can be mitigated through preventive interventions. However, Lynch syndrome often goes underdiagnosed. The National Lynch Syndrome Transformation Project in England aims to ensure that patients newly diagnosed with colorectal or endometrial cancer are offered testing for the syndrome ...
Kevin J. Monahan, Paul Fleming, Neil A. J. Ryan, Laura Monje‐Garcia, Ruth Armstrong, David N. Church, Jackie Cook, Fiona Lalloo, Sally Lane, Frank D. McDermott, Tracie Miles, Corinne Mallinson, Steven A. Hardy, Simone Gelinas, Francesca Faravelli, Frances Elmslie, Adam C. Shaw   +16 more
wiley   +1 more source

Aneuploidy of the chromosome G(21-22) autosomes. Current concepts.

, 1971
Satoshi Hara, E. Perry Crump
openalex   +1 more source