Results 81 to 90 of about 13,098 (176)

Beyond the streetlight: a TREAT‐AD perspective on where to find new Alzheimer's targets

Alzheimer's &Dementia, Volume 22, Issue 2, February 2026.
Abstract Despite extensive investments in Alzheimer's disease (AD) therapeutic development, progress toward effective interventions remains modest. The landscape of potential novel therapeutic strategies is rapidly growing, but prioritization, validation, and tools to advance targets to trial are lagging.
Gregory A. Cary, Jesse C. Wiley, Gregory W. Carter, Allan I. Levey   +3 more
wiley   +1 more source

Genome sequencing enhances the diagnostic yield and expands the genetic landscape of male breast cancer

Genetics in Medicine Open
Purpose: To understand the broader genetic landscape of male breast cancer (MBC), focusing on the utility of genome sequencing (GS) beyond BRCA1/2 (HGNC: 1100, 1101) variants. Methods: Twenty-four patients with MBC underwent a multistep genetic analysis.
Wen Wen, Sen Zhao, Yiwen Jiang, Chengzhu Ou, Changyuan Guo, Ziqi Jia, Jiayi Li, Yansong Huang, Hengyi Xu, Pengming Pu, Tongxuan Shang, Lin Cong, Xiang Wang, Nan Wu, Jiaqi Liu   +14 more
doaj   +1 more source

LNCipedia 5 : towards a reference set of human long non-coding RNAs [PDF]

, 2019
While long non-coding RNA (lncRNA) research in the past has primarily focused on the discovery of novel genes, today it has shifted towards functional annotation of this large class of genes.
Anckaert, Jasper, Martens, Lennart, Mestdagh, Pieter, Nuytens, Justine, Vandesompele, Jo, Verheggen, Kenneth, Volders, Pieter-Jan   +6 more
core   +1 more source

Chromatin Profiling Reveals Distinct Male and Female Trajectories for Developmental Learning Potential

Developmental Neurobiology, Volume 86, Issue 1, January 2026.
ABSTRACT Adult patterns of behavior can often be explained by developmental experiences. In some cases, developmental experience can have permanent influence on brain and behavior only during specific ages; these phases are called critical or sensitive periods. Epigenetic mechanisms can regulate both maturational and experiential processes in the brain
Grant W. Kunzelman, Alice Batistuzzo, Sarah E. London   +2 more
wiley   +1 more source

Determining the Molecular Background of Endometrial Receptivity in Adenomyosis

Biomolecules, 2020
Background: Adenomyosis is a gynaecological condition with limited evidence of negative impact to endometrial receptivity. It is commonly associated with endometriosis, which has been shown to alter endometrial expression patterns.
Erika Prašnikar, Tanja Kunej, Katja Repnik, Uroš Potočnik, Jure Knez, Borut Kovačič   +5 more
doaj   +1 more source

ImmPort, toward repurposing of open access immunological assay data for translational and clinical research [PDF]

, 2018
Immunology researchers are beginning to explore the possibilities of reproducibility, reuse and secondary analyses of immunology data. Open-access datasets are being applied in the validation of the methods used in the original studies, leveraging ...
Bhattacharya, Sanchita, Butte, Atul, Chen, Jieming, Dunn, Patrick, Hu, Zicheng, Schaefer, Henry, Shankar, Ravi, Shen-Orr, Shai, Smith, Barry, Thomas, Cristel, Thomson, Elizabeth, Wiser, Jeffrey, Zalocusky, Kelly   +12 more
core   +2 more sources

A Novel A‐Kinase‐Anchoring Protein 9 Variant in Premature Coronary Artery Disease: A Case Series

Molecular Genetics &Genomic Medicine, Volume 14, Issue 1, January 2026.
AKAP9 Q2136E mutation disrupts AKAP9–PRKAR2A interaction and may contribute to early‐onset CAD. ABSTRACT Background Familial premature coronary artery disease (CAD) is often associated with genetic variants. This study investigated potential causal variants in a Chinese pedigree with premature CAD. Methods In total, nine family members were included in
Yuemiao Jiao, Minxian Wang, Guifen Qiang, Li Zhao, Ziwei Xi, Yue Yu, Chengqian Yin, Guangyuan Song   +7 more
wiley   +1 more source

Nonketotic Hyperglycinemia: A Report of Two Infants Treated with Dextromethorphan and Sodium Benzoate [PDF]

, 2000
A hiperglicinémia não cetótica é um erro inato da degradação da glicina, resultando na sua excessiva acumulação nos tecidos corporais, designadamente no sistema nervoso central.
Cabral, A, Cabral, P, Carvalho, A, Galha, H, Gonçalves, H, Pereira-da-Silva, L, Sequeira, S, Serrano, A, Videira-Amaral, J   +8 more
core  

Pharmacogenetic allele nomenclature: International workgroup recommendations for test result reporting [PDF]

, 2016
This manuscript provides nomenclature recommendations developed by an international workgroup to increase transparency and standardization of pharmacogenetic (PGx) result reporting. Presently, sequence variants identified by PGx tests are described using
Agúndez, José A.G., Appell, Malin Lindqvist, Bell, Gillian C., Black, John Logan, Boukouvala, Sotiria, Bruckner, Carsten, Bruckner, Carsten, Bruford, Elspeth, Caudle, Kelly, Coulthard, Sally, Daly, Ann K., Del Tredici, Andria L., den Dunnen, Johan T, Drozda, Katarzyna, Everts, Robin, Flockhart, David, Freimuth, Robert, Gaedigk, Andrea, Hachad, Houda, Hartshorne, Toinette, Ingelman-Sundberg, Magnus, Kalman, Lisa V., Klein, Teri E., Lauschke, Volker M., Maglott, Donna R., McLeod, Howard L., McMillin, Gwendolyn A., Meyer, Urs A., Müller, Daniel J., Nickerson, Deborah A., Oetting, William S., Pacanowski, Michael, Pratt, Victoria M., Relling, Mary V., Roberts, Ali, Rubinstein, Wendy S., Sangkuhl, Katrin, Schwab, Matthias, Scott, Stuart A., Sim, Sarah C, Thirumaran, Ranjit K, Toji, Lorraine H., Tyndale, Rachel, van Schaik, Ron HN, Whirl-Carrillo, Michelle, Yeo, Kiang-Teck J, Zanger, Ulrich M.   +46 more
core   +1 more source

Clinical Features and Treatment Strategies of Li‐Fraumeni Syndrome Patients With Inherited TP53 Mutations

Molecular Genetics &Genomic Medicine, Volume 14, Issue 1, January 2026.
LFS with TP53 disease‐causing mutations may be potential beneficiaries of immune checkpoint inhibitors and targeted therapies. Therefore, NGS and PD‐L1 testing should be performed in all LFS patients. ABSTRACT Background Li‐Fraumeni syndrome is a rare autosomal dominant disorder caused by a pathogenic mutation of the tumor suppressor gene TP53.
Keyu Chen, Yufen Xu, Binbin Song, Yuyang Gu, Xiaofang Xu, Jun Cao, Meiyu Fang   +6 more
wiley   +1 more source