Results 231 to 240 of about 215,860 (303)

Patient‐derived organoid‐immune co‐cultures integrated with multi‐omics reveal immunotherapy resistance mechanisms in urothelial carcinoma

iMeta, EarlyView.
Immunotherapy resistance presents a formidable challenge in tumor biology. While fibroblast growth factor receptor 3 (FGFR3) serves as a pivotal oncogenic driver in a multitude of cancers, the exploration of its role in immune checkpoint inhibitor (ICI) resistance remains scarce, thus impeding a deeper understanding of the tumor immune microenvironment
Shan Jiang, Yuxuan Song, Yun Peng, Ran Yan, Yunze Niu, Baoqiang Chen, Jiaxing Lin, Jilin Wu, Shixiang Wang, Yiqing Du, Caipeng Qin, Yihan Lin, Tao Xu   +12 more
wiley   +1 more source

Whole-exome sequencing illuminates unexplained pediatric cholestatic liver disease. [PDF]

World J Hepatol
Yodoshi T.
europepmc   +1 more source

Ovarian Cancer: Epidemiology, Disease Mechanisms, New Diagnosis and Treatment Strategies, and Research Directions

iNew Medicine, EarlyView.
ABSTRACT Ovarian cancer (OC) continues to be the deadliest gynecological malignancy and a significant cause of cancer‐related mortality among women worldwide. Standard treatment strategies typically entail platinum‐based chemotherapy in conjunction with cytoreductive surgery.
Zunera Khalid, Weirong Fan, Farah Nazir, Yixiang Xing, Tengchuan Jin   +4 more
wiley   +1 more source

Klippel‐Trénaunay‐Weber Syndrome: Prenatal Diagnosis and Review of the Literature

Journal of Clinical Ultrasound, Volume 53, Issue 3, Page 535-546, March/April 2025.
This meta‐analysis demonstrates the high diagnostic accuracy of SZ‐CEUS for differentiating between malignant and benign focal liver lesions, as well as for HCC from non‐HCC lesions. The study shows better performance for smaller lesions and those with a higher proportion of malignancy.
Giuliana Orlandi, Laura Sarno, Antonio Angelino, Mariarosaria Motta, Raffaella Di Girolamo, Luigi Carbone, Marika Rovetto, Laura Letizia Mazzarelli, Gabriella Sglavo, Francesco D' Antonio, Ilenia Mappa, Daniele Di Mascio, Giuseppe Rizzo, Giuseppe Maria Maruotti   +13 more
wiley   +1 more source

A Genetic Landscape of Euploid Miscarriages From Couples With Recurrent Pregnancy Loss Through Whole Exome Sequencing. [PDF]

Mol Genet Genomic Med
Kong F, Yin Z, Zhou H, Liu Z, Xie W.
europepmc   +1 more source

Implementation and Performance of First‐Trimester Referral Ultrasound Scan Following the Introduction of National Guidelines

Journal of Clinical Ultrasound, EarlyView.
The expert assessment of fetal anatomy before 14 weeks is feasible when adopting a standardized protocol and allows an early diagnosis in most cases at risk for fetal anomaly following first trimester screening ultrasound. ABSTRACT Background To report the implementation across Fetal Medicine units and the agreement between first and second trimester ...
Grazia Volpe, Laura Sarno, Elena Mantovani, Daniele Di Mascio, Valentina D'Ambrosio, Tiziana Fanelli, Ilaria Fantasia, Gian Piero Minnella, Paola Quaresima, Enrico Corno, Andrea Dall'Asta, on behalf of the SIEOGiovani Committee of the Italian Society of Ultrasound in Obstetrics and Gynecology (SIEOG)   +11 more
wiley   +1 more source

Exome sequencing enables molecular diagnosis in 10% of early-onset or familial systemic lupus erythematosus cases. [PDF]

EBioMedicine
Tusseau M, Khaldi-Plassart S, Labalme A, Mathieu AL, Riller Q, Molitor C, Simonet T, Viel S, Gaboriaud C, Thielens N, Heiser L, Chopin E, Rouvet I, Fabien N, Goncalves D, Fremeaux-Bacchi V, El-Sissy C, Pottier N, Larrue R, Ranchin B, Laurent A, Fouillet-Desjonqueres M, Jouret M, Mekinian A, Yamashita M, Morio T, Hachulla E, Melki I, Kone-Paut I, Ballot C, Reumaux H, Pillet P, Harambat J, Richez C, Richer O, Hatchuel Y, Louillet F, Lega JC, Durieu I, Welfringer-Morin A, Picard C, Messadi W, Sarrot-Reynauld F, Sanlaville D, Bader-Meunier B, Walzer T, Lesca G, Rieux-Laucat F, Belot A, GENIAL/LUMUGENE Collaborators.   +49 more
europepmc   +1 more source

The utility of whole exome sequencing in diagnosing Wilson disease: A case report

JPGN Reports, EarlyView.
Abstract Wilson disease (WD) is an autosomal recessive disorder of copper metabolism caused by mutations in the ATP7B gene, resulting in toxic copper accumulation in the body. Diagnosis is typically based on biochemistries, including low serum ceruloplasmin and elevated 24‐h urine copper excretion, with Kayser–Fleischer (KF) rings being a supportive ...
Mihir J. Palan, Dana Simpson, Cheryl Miranda, Melanie Hakar, Henry C. Lin   +4 more
wiley   +1 more source

Whole exome sequencing identifies somatically mutated genes in bladder cancer: A pilot study from Bangladesh. [PDF]

Biochem Biophys Rep
Ahmed HU, Hosen MR, Mostofa MA, Hossain MA, Faruk MO, Shekhar HU, Hasan AM, Hosen MI.   +7 more
europepmc   +1 more source