Results 71 to 80 of about 1,172 (162)

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

MOESM5 of EFTUD2 gene deficiency disrupts osteoblast maturation and inhibits chondrocyte differentiation via activation of the p53 signaling pathway [PDF]

, 2019
Additional file 5: Figure S4. EFTUD2 gene knockdown in HC-a. A: Expression of EFTUD2 mRNA in HC-a cells transfected with sh2 and sh3 lentivirus was lower than that in the shNT control.B: Protein expression of EFTUD2 decreased in HC-a cells transfected ...
Lishun Wang (6542), You He (273437), Yu An (133201), Qiang Li (8118), Chengjun Sun (1901482), Jing Wu (54032), Feihong Luo (612837), Xu Wang (28596), Yi Yang (116183)   +8 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

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

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

Mandibulofacial dysostosis with microcephaly: mutation and database update [PDF]

, 2016
Mandibulofacial dysostosis with microcephaly (MFDM) is a multiple malformation syndrome comprising microcephaly, craniofacial anomalies, hearing loss, dysmorphic features, and, in some cases, esophageal atresia.
Kline, Antonie D., Harr, Margaret H., Dijk, Fleur S, Center, UCLA Clinical Genomics, Mirzaa, Ghayda M., Boycott, Kym M., Barrowman, Nick, Favaro, Francine P., van Dijk, Fleur S., Scheuerle, Angela E, White, Sue M., Shears, Deborah J, Lildballe, Dorte L., Bulman, Dennis E, Silver, Josh, Hartley, Taila, Quintero‐Rivera, Fabiola, Morel, Chantal F, Meldrum, Cliff, Quintero-Rivera, Fabiola, Joss, Shelagh K., Gripp, Karen W, Pyle, Louise C, Shears, Deborah J., Smith, Amanda C., Smith, Amanda C, Temple, I. Karen, Morton, Jenny EV, Harr, Margaret H, Martinezmoles, Johanna, López‐González, Vanesa, Goel, Himanshu, Hunter, Alasdair GW, Pyle, Louise C., CareRare, Canada, Joss, Shelagh K, Lildballe, Dorte L, Guion-Almeida, Maria Leine, Consortium, Care4Rare Canada, Zou, Ruobing, Johnson, John, Kimball, Amy, van de Kamp, Jiddeke M., Faghfoury, Hanna, Guion‐Almeida, Maria‐Leine, Bulman, Dennis E., White, Sue M, Schönewolf‐Greulich, Bitten, Zackai, Elaine H, Gripp, Karen W., Dabir, Tabib A., Dipple, Katrina M, Dipple, Katrina M., Lauzon, Julie, Dabir, Tabib A, Boycott, Kym M, Gregersen, Pernille A, Kline, Antonie D, Vanstone, Megan R., Dobyns, William B., Hudson, Cindy, Zackai, Elaine H., Favaro, Francine P, Gregersen, Pernille A., Richer, Julie, López-González, Vanesa, Vandersteen, Anthony M., Morton, Jenny E.V., Kini, Usha, Estrella, Jane, Temple, I Karen, de Kamp, Jiddeke M, Grix, Art, Vanstone, Megan R, Schönewolf-Greulich, Bitten, Mirzaa, Ghayda M, Dobyns, William B, Osmond, Matthew, Vandersteen, Anthony M, Baker, Laura, Morel, Chantal F., Lines, Matthew A., Huang, Lijia, Guion-Almeida, Maria-Leine, Hunter, Alasdair G.W., Lines, Matthew A, Allanson, Judith, Scheuerle, Angela E.   +87 more
core   +4 more sources

Quantitative Analysis of HER2 Amplification by Droplet Digital PCR in the Follow-Up of Gastric Cancer Patients Being Treated with Trastuzumab after Surgery

Gastroenterology Research and Practice, 2019
Background. Circulating tumor DNA (ctDNA) derived from tumors is a promising biomarker for monitoring tumor status and evaluating therapeutic effects and prognosis.
Yanzhuo Liu, Maozhu Yang, Tao Jiang, Chunbin Lan, Hao Yuan, Guiquan Li, Guiqing Jia, Kang Wang, Gaoping Zhao   +8 more
doaj   +1 more source

TSC22D1 is a newly identified inhibitor of insulin secretion in pancreatic beta cells

The FEBS Journal, Volume 292, Issue 23, Page 6307-6329, December 2025.
TSC22D1 acts downstream of glucose signaling and negatively regulates insulin secretion in pancreatic beta cells. Mechanistically, TSC22D1 interacts with FoxO1. Elevated glucose levels enhance the TSC22D1–FoxO1 interaction indirectly by increasing the protein abundance of TSC22D1. Importantly, TSC22D1 and FoxO1 not only physically associate but also co‐
Sümbül Yıldırım, Amit Mhamane, Svenja Lösch, Annika Wieder, Ezgi Ermis, Ann‐Christine König, Sevgican Yilmaz, Stefanie M. Hauck, Fatih Kocabas, Julia Szendroedi, Stephan Herzig, Bilgen Ekim   +11 more
wiley   +1 more source

Genotype of embryos after mating of Eftud2^+/- and wild-type mice on the C57BL/6 genetic background. [PDF]

, 2019
Genotype of embryos after mating of Eftud2+/- and wild-type mice on the C57BL/6 genetic background.
Anissa Djedid (6919970), Shruti Kumar (6919979), Kayla Clokie (6919976), Marie-Claude Beauchamp (3476816), Jacek Majewski (65417), Loydie Anne Jerome-Majewska (6919982), Kevin Daupin (6919973)   +6 more
core   +1 more source

Highly multiplexed digital PCR assay for simultaneous quantification of variant allele frequencies and copy number alterations of KRAS and GNAS in pancreatic cancer precursors

Molecular Oncology, Volume 19, Issue 10, Page 2921-2935, October 2025.
Combining melting curve analysis enhances the multiplexing capability of digital PCR. Here, we developed a 14‐plex assay to simultaneously measure single nucleotide mutations and amplifications of KRAS and GNAS, which are common driver genes in pancreatic cancer precursors. This assay accurately quantified variant allele frequencies in clinical samples
Junko Tanaka, Tatsuo Nakagawa, Yusuke Ono, Yoshio Kamura, Takeshi Ishida, Hidemasa Kawabata, Kenji Takahashi, Hiroki Sato, Andrew S. Liss, Yusuke Mizukami, Takahide Yokoi   +10 more
wiley   +1 more source