Results 71 to 80 of about 2,850,943 (269)

P624: First case of a FBXW11-related disorder diagnosed via prenatal whole exome sequencing

Genetics in Medicine Open, 2023
Lisa Pilchman, Beverly Coleman, Julie Moldenhauer   +2 more
doaj   +1 more source

USP53 Affects the Proliferation and Apoptosis of Breast Cancer Cells by Regulating the Ubiquitination Level of ZMYND11

Biological Procedures Online
Breast cancer is the most common female malignancy worldwide. Ubiquitin-specific peptidase 53 (USP53) has been shown to exert cancer-suppressing functions in several solid tumors, but its role and the underlying mechanism in breast cancer has not been ...
Xiangchao Meng, Hongye Chen, Zhihui Tan, Weitao Yan, Yinfeng Liu, Ji Lv, Meng Han   +6 more
doaj   +1 more source

PER1 Serves as a Tumor Suppressor in Breast Cancer by Regulating MEK5/ERK5 Signaling Pathway

International Journal of General Medicine
Yinfeng Liu,1 Dandan Yang,2 Zihang Xu,1 Ji Lv,1 Zizheng Wu,1 Jie Zheng,1,3 Meng Han,1 Guanli Yuan4 1Breast Disease Diagnosis and Treatment Center, The First Hospital of Qinhuangdao, Qinhuangdao, Hebei, People’s Republic of China; 2Clinical Laboratory ...
Liu Y, Yang D, Xu Z, Lv J, Wu Z, Zheng J, Han M, Yuan G   +7 more
doaj  

P623: Prenatal diagnosis of a RNU4ATAC-related disorder detected by whole genome sequencing not seen by exome sequencing on the initial proband

Genetics in Medicine Open, 2023
Lisa Pilchman, Beverly Coleman, Allan Fisher, Natasha Combs, Kendall Kaufmann, Julie Moldenhauer, Juliana Gebb   +6 more
doaj   +1 more source

Adherence to Protocol Recommendations for Children With Wilms Tumour in Two Consecutive Studies in the United Kingdom and Ireland—Does Variation Matter?

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Background and Aims Wilms tumour (WT) has excellent event‐free and overall survival (OS). However, small differences exist between countries participating in the same international study. This led us to examine variation in adherence to protocol recommendations as a potential contributing factor.
Suzanne Tugnait, R. Al‐Saadi, A. Lopez‐Cortes, K. Dzhuma, M. Oostveen, J. Brok, S. Irtan, M. Weeks, J. Bate, S. Baker, R. Williams, M. Powis, D. Saunders, O. Olsen, T. Watson, S. Shelmerdine, S. Vaidya, L. Howell, C. Duncan, G. M. Vujanic, C. Stiller, G. P. Balchin, T. Chowdhury, K. Pritchard‐Jones   +23 more
wiley   +1 more source

Sirolimus for Extracranial Arteriovenous Malformations: A Scoping Review of the Evidence in Syndromic and Non‐Syndromic Cases

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Arteriovenous malformations (AVMs) are rare, high‐flow, vascular anomalies that can occur either sporadically or as part of a genetic syndrome. AVMs can progress with serious morbidity and even mortality if left unchecked. Sirolimus is an mTOR inhibitor that is effective in low‐flow vascular malformations; however, its role in AVMs is unclear.
Will Swansson, Ingrid Winship, Gary Hammerschlag, Laura Scardamaglia   +3 more
wiley   +1 more source

Altered PGE2-EP2 is associated with an excessive immune response in HBV-related acute-on-chronic liver failure

Journal of Translational Medicine, 2019
Background and aims Prostaglandin E receptor 2 (EP2) is an immune modulatory molecule that regulates the balance of immunity. Here we investigated the role of EP2 in immune dysregulation in patients with acute-on-chronic liver failure (ACLF).
Yunyun Wang, Chao Chen, Jinjin Qi, Fengtian Wu, Jun Guan, Zhi Chen, Haihong Zhu   +6 more
doaj   +1 more source

Evaluating the Utility of Paired Tumor and Germline Targeted DNA Sequencing for Pediatric Oncology Patients: A Single Institution Report

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Objective To evaluate the diagnostic yield and utility of universal paired tumor–normal multigene panel sequencing in newly diagnosed pediatric solid and central nervous system (CNS) tumor patients and to compare the detection of germline pathogenic/likely pathogenic variants (PV/LPVs) against established clinical referral criteria for cancer ...
Natalie Waligorski, Rebecca Ronsley, Shannon M. Stasi, Jeffrey Stevens, Erin R. Rudzinski, Christina M. Lockwood, Sarah E. S. Leary, Bonnie L. Cole, Michelle A. Ting, Vera Paulson   +9 more
wiley   +1 more source

Myelodysplastic syndromes with del(20q) transformed into B-lineage acute lymphoblastic leukemia remaining with del(20q): a case report with literature review

Discover Oncology
Background The transformation of myelodysplastic syndromes (MDS) into acute myeloid leukemia (AML) is common, while it is extremely rarely for acute lymphoblastic leukemia (ALL) transformation.
Wenyi Zhang, Xiaomei Hu, Peilei Zhang, Dongxia Wang, Yali Yang, Hongliang Li   +5 more
doaj   +1 more source

Haemoptysis: Diagnosis and Treatment

Acute Medicine Journal, 2012
Haemoptysis is a common symptom in clinical practice, which requires further investigation. Fortunately, massive haemoptysis only accounts for a small proportion of these episodes. It is a medical emergency that carries a high mortality rate. There are no agreed management guidelines.
K, Hurt, D, Bilton
openaire   +3 more sources