Results 61 to 70 of about 1,217 (167)

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

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

Features of blastocysts cultured in vitro collected from matings of Eftud2^+/- with Eftud2^+/- mice in the CD1 genetic background.

, 2019
Features of blastocysts cultured in vitro collected from matings of Eftud2+/- with Eftud2+/- mice in the CD1 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

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

ZTTK Syndrome Expanding the Cardiac Phenotype: A Case of Shone’s Complex With a Novel SON Variant and Focused Review of the Cardiac Manifestations in ZTTK Syndrome

Case Reports in Genetics, Volume 2026, Issue 1, 2026.
Zhu–Tokita–Takenouchi–Kim (ZTTK) syndrome is a rare multisystem neurodevelopmental disorder caused by heterozygous variants in SON. Presented here is a case of a four‐year‐old female with multiple rare manifestations including a complex neurodevelopmental disorder, Shone complex and a simple capillary malformation.
John Coleman, Abdul L. Shakerdi, Veronika Dvorakova, Janna Kenny, Abdullah Sezer   +4 more
wiley   +1 more source

Genotype of embryos collected from matings of Eftud2^+/- with Eftud2^+/- mice on the mixed CD1;FvB genetic background.

, 2019
Genotype of embryos collected from matings of Eftud2+/- with Eftud2+/- mice on the mixed CD1;FvB 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

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

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

A novel de novo missense mutation in EFTUD2 identified by whole‐exome sequencing in mandibulofacial dysostosis with microcephaly

Journal of Clinical Laboratory Analysis, 2022
AbstractBackgroundMandibulofacial dysostosis with microcephaly (MFDM) is a rare multiple malformation syndrome characterized by malar and mandibular hypoplasia and congenital‐ or postnatal‐onset microcephaly induced by haploinsufficiency of (elongation factor Tu GTP‐binding domain‐containing 2) EFTUD2.MethodsWe report the case of a 16‐month‐old boy ...
Mei Yang, Yanyan Liu, Ziyuan Lin, Huaqin Sun, Ting Hu   +4 more
openaire   +2 more sources

MOESM2 of EFTUD2 gene deficiency disrupts osteoblast maturation and inhibits chondrocyte differentiation via activation of the p53 signaling pathway

, 2019
Additional file 2: Figure S1. eftud2 expression pattern in WT zebrafish. A: eftud2 expression in zebrafish embryos at 24hpf (a, b), 48hpf (c, d), 3dpf (e, f) and 5dpf (g, h) was examined using whole-mount in situ hybridization over a period of 5 days ...
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