Results 71 to 80 of about 1,902 (167)

Differential splicing of neuronal genes in a Trem2*R47H mouse model mimics alterations associated with Alzheimer\u27s disease. [PDF]

, 2023
BACKGROUND: Molecular characterization of late-onset Alzheimer\u27s disease (LOAD), the leading cause of age-related dementia, has revealed transcripts, proteins, and pathway alterations associated with disease.
Carter, Gregory W, Howell, Gareth R, Kotredes, Kevin P, Pandey, Ravi S, Sasner, Michael   +4 more
core   +2 more sources

The Intersection of m6A Methylation and Immune Response in PCOS: A Bioinformatics Perspective

Immunity, Inflammation and Disease, Volume 14, Issue 2, February 2026.
N6‐methyladenosine RNA methylation regulators are intricately linked with the development of polycystic ovary syndrome (PCOS) and may influence immune cell infiltration in affected individuals. This study enhances our understanding of the molecular interactions in PCOS and suggests potential biomarkers for diagnosis and targets for therapeutic ...
Wenting Xu, Lingli Shi, Aifang Lu, Lijuan Cui, Haiqing Qian, Jiahui Wang, Mengyu Tang, Lili Zhu, Lihong Wang   +8 more
wiley   +1 more source

Comparative proteome analysis of three mouse lung adenocarcinoma CMT cell lines with different metastatic potential by two-dimensional gel electrophoresis and mass spectrometry [PDF]

, 2008
Udgivelsesdato: 2008-Nov-10Metastasis is a lethal attribute of a cancer and presents a continuing therapeutic challenge. Metastasis is a highly complex process and more knowledge about the mechanisms behind metastasis is highly desirable.
, Aitken, Balasubramani, Berg, Blomberg, Boelens, Brake, Bühler, Chang, Chen, Chen, Cherbonnel-Lasserre, Cribier, Cui, Dehan, Dennis, Ding, Dragani, Fey, Fey, Franks, Franks, Fu, Fu, Fujita, Fukunaga, Garrel, Gobom, Hendrix, Hermeking, Hoffmann-Fazel, Hunter, Husain, Ismail, Iwaya, Jin, Kanaji, Kim, Knosel, Layton, Leys, Li, Magin, Mani, Mehlen, Meuwissen, Miyasaka, Moll, Nakanishi, Nielsen, Nikitin, Oremek, Qi, Quinlan, Rogowska-Wrzesinska, Satoh, Schaller, Sekido, Sekido, Shen, Steeg, Stein, Stojadinovic, Tojo, Tsubokawa, Uchikado, Umbricht, Urano, van Hemert, Voges, Wang, Wasenius, Welch, Welch, Wilker, Woodhouse, Zhang, Zhang, Zhou   +78 more
core   +1 more source

Improving HER2 Diagnostics with Digital Real‐Time PCR for Ultrafast, Precise Prediction of Anti‐HER2 Therapy Response in Patients with Breast Cancer

Small Methods, Volume 10, Issue 3, 9 February 2026.
This study presents a novel, clinically feasible HER2 testing method using a fully automated digital real‐time PCR platform. It enables real‐time absolute quantification of ERBB2 copy number alterations for rapid, simple, and accurate assessment of HEgR2 status, thereby overcoming the limitations of conventional testing and improving prediction of anti‐
Hee‐Joo Choi, Soo Young Park, Minsik Song, Jinhyuk Chang, YoonSik Kim, Hosub Park, Chihwan David Cha, Sohyeon Yang, Nam Hun Heo, Min Ji Song, Da Sol Kim, Hayeon Kim, Minuk Kim, Jae Eun Park, Yesung Lee, EunChae Ji, Heekyoung Chung, Ilecheon Jeong, Mineui Hong, Jin‐Wu Nam, Mee‐Hye Oh, Ji‐Hye Lee, Jinwoo Seol, Hee‐Young Won, Hyun‐Woo Song, Jaewon Eom, Do Young Lee, Han Suk Ryu, Si‐Hyong Jang, Jeong‐Yeon Lee   +29 more
wiley   +1 more source

A case-control genome-wide association study identifies genetic modifiers of fetal hemoglobin in sickle cell disease. [PDF]

, 2016
Sickle cell disease (SCD) is a group of inherited blood disorders that have in common a mutation in the sixth codon of the β-globin (HBB) gene on chromosome 11.
Ballas, Samir K., Ding, Liang-Hao, Hoppe, Carolyn, Liu, Li, Pace, Betty S, Pertsemlidis, Alexander, Sebastiani, Paola, Steinberg, Martin H, Story, Michael D   +8 more
core   +1 more source

Detained introns are a novel, widespread class of post-transcriptionally spliced introns [PDF]

, 2014
Deep sequencing of embryonic stem cell RNA revealed many specific internal introns that are significantly more abundant than the other introns within polyadenylated transcripts; we classified these as “detained” introns (DIs).
Bhutkar, Arjun, Boutz, Paul, Sharp, Phillip A.   +2 more
core   +1 more source

Genetic Landscape of Robin Sequence: A Systematic Review

Clinical Genetics, Volume 109, Issue 2, Page 218-232, February 2026.
This systematic review summarizes the genetic landscape of Robin sequence (RS), highlighting key differences between isolated and non‐isolated forms and emphasizing the role of up‐to‐date genetic testing for diagnosis and clinical management. ABSTRACT Robin sequence (RS) is a congenital condition characterized by micrognathia, glossoptosis, and upper ...
Shirley van de Velde, Aebele B. Mink van der Molen, Augusta M. A. Lachmeijer, Daan de Leijer, Jeroen J. Smits, Maarten P. G. Massink, Sarah L. Versnel, Marie‐José H. van den Boogaard, Emma C. Paes   +8 more
wiley   +1 more source

Copy number variations in 375 patients with oesophageal atresia and/or tracheoesophageal fistula [PDF]

, 2016
Oesophageal atresia (OA) with or without tracheoesophageal fistula (TOF) are rare anatomical congenital malformations whose cause is unknown in over 90% of patients.
Bever, Y. (Yolande) van, Beverloo, H.B. (Berna), Boemers, T.M. (Thomas M.), Brooks, A.S. (Alice), Brosens, E. (Erwin), Choinitzki, V. (Vera), Douben, H. (Hannie), Eussen, H.J.F.M.M. (Bert), Helm, R.M. (Robert) van der, Herms, S. (Stefan), Hilger, A.C. (Alina C), Hoffmann, P. (Per), Hölscher, A. (Alice), IJsselstijn, H. (Hanneke), Jong, E.M. (Elisabeth) de, Klein, A. (Annelies) de, Lacher, M., Ludwig, M. (Michael), Marsch, F. (Florian), Reutter, H. (Heiko), Schumacher, J. (Johannes), Scott, D.A., Tibboel, D. (Dick), Ure, B. (Benno), Van Opstal, A.R.M. (Diane), Wijnen, R.M.H. (René), Zaveri, H.P. (Hitisha)   +26 more
core   +1 more source

Protein Subdomain Enrichment of NUP155 Variants Identify a Novel Predicted Pathogenic Hotspot

Frontiers in Cardiovascular Medicine, 2020
Functional variants in nuclear envelope genes are implicated as underlying causes of cardiopathology. To examine the potential association of single nucleotide variants of nucleoporin genes with cardiac disease, we employed a prognostic scoring approach ...
Riley J. Leonard, Riley J. Leonard, Claudia C. Preston, Melanie E. Gucwa, Melanie E. Gucwa, Yohannes Afeworki, Arielle S. Selya, Randolph S. Faustino, Randolph S. Faustino   +8 more
doaj   +1 more source

Alternative Splicing: Molecular Mechanisms, Biological Functions, Diseases, and Potential Therapeutic Targets

MedComm, Volume 6, Issue 12, December 2025.
Alternative splicing (AS) expands proteomic diversity and functional complexity in eukaryotes, regulated by spliceosomal components, RNA elements, and epigenetic modifications. Dysregulated AS contributes to diseases, including cancer, neurodegenerative disorders, and cardiovascular conditions, among others. Therapeutic interventions, such as antisense
Zhi‐Min Zhu, Xiao‐Mei Wu, Yan Hu, Xiao‐Lan Bian, Ya‐Qin Wang, Qiong‐Ni Zhu   +5 more
wiley   +1 more source