Results 191 to 200 of about 123,315 (302)

WDR72 Drives Esophageal Squamous Cell Carcinoma Progression by Inhibiting Autophagy via the PI3K/Akt/mTOR Pathway

The Kaohsiung Journal of Medical Sciences, EarlyView.
ABSTRACT Esophageal squamous cell carcinoma (ESCC) is an aggressive malignancy with a high rate of recurrence and metastasis, necessitating the identification of novel therapeutic targets. WD repeat‐containing protein 72 (WDR72) has been linked to various cancers, but its specific biological function and underlying mechanism in ESCC remain largely ...
Hao Wu, Zhong‐Xiang Jiang, Zheng Jiang
wiley   +1 more source

Characteristics and Clinical Outcomes of BRCA Germline Mutation Carriers with Advanced Breast Cancer Treated with PARP (Poly ADP-Ribose Polymerase) Inhibitors: A Single-Institution Experience. [PDF]

Cancers (Basel)
Akkoc Mustafayev FN, Fountzilas E, Munsell MF, Layman RM, Yam C, Gutierrez AM, Albarracin CT, Ahmed Z, Schlacher K, Tainer JA, Arun BK.   +10 more
europepmc   +1 more source

Gastric neuroendocrine tumors in a BRCA2 germline mutation carrier: A case report. [PDF]

World J Gastrointest Oncol, 2023
Zhang HF, Zheng Y, Wen X, Zhao J, Li J.
europepmc   +1 more source

Hepatocellular carcinoma arising from adenoma with ARID1A mutation in an adolescent patient with ATM germline mutation. [PDF]

J Surg Case Rep
Drda E, Ali S, Fadel H, Sun B, Elfar W.
europepmc   +1 more source

Mapping Causal Biology: Mendelian Randomization in the Era of Big Data

Med Research, EarlyView.
Mendelian randomization (MR) leverages genetic variants to mitigate confounding biases in causal inference. This review systematically maps MR's methodological evolution, highlights its expanding applications in epidemiology and drug target validation, and outlines future directions for overcoming current biases through dynamic, multi‐omics, and cross ...
Xuanlu Shen, Chunrun Qu, Zeyu Wang, Jinglin Zhou, Hongwei Liu, Yingjie Li, Bowei Liu, Hao Zhang, Nan Zhang, Jingwei Zhang, Quan Cheng   +10 more
wiley   +1 more source

Rare cases in two Chinese MEN2A families with RET C634Y germline mutation-a homozygous female patient and heterozygous identical twins: a systematic review of literature. [PDF]

Front Endocrinol (Lausanne)
Qi XP, Weng YT, Chen ZY, Zhang MX, Yang XL, Cao ZL, Zhang XX, Zhu WB, Yu HY, Chen WY, Chen JY, Li FP.   +11 more
europepmc   +1 more source

A BRCA2 germline mutation and high expression of immune checkpoints in a TNBC patient. [PDF]

Cell Death Discov, 2023
Han Y, Rovella V, Smirnov A, Buonomo OC, Mauriello A, Perretta T, Shi Y, Woodmsith J, Bischof J, TOR CENTRE, Melino G, Candi E, Bernassola F.   +12 more
europepmc   +1 more source

Cadherin 1 germline mutation co-occurs with medullary thyroid cancer and choroid plexus papilloma: A case report and review of literature. [PDF]

Surg Neurol Int
Nitturi V, Gopakumar S, Lu HC, Patel AJ.
europepmc   +1 more source

Hemophilia A: An Ideal Disease for Prenatal Therapy

Prenatal Diagnosis, EarlyView.
ABSTRACT Hemophilia A (HA) is the most common inherited coagulation defect. Current state‐of‐the‐art treatment consists of frequent administration of prophylactic infusions of coagulation factor VIII (FVIII) protein or bispecific antibodies that replace the cofactor function of FVIIIa to maintain hemostasis. However, these treatments are far from ideal,
Christopher D. Porada, Anthony Atala, Graça Almeida‐Porada   +2 more
wiley   +1 more source

Germline mutation profiling of breast cancer patients using a non-BRCA sequencing panel. [PDF]

Front Bioinform
Panigoro SS, Paramita RI, Fadilah F, Wanandi SI, Prawiningrum AF, Erlina L, Utari WD, Fajrin AM.   +7 more
europepmc   +1 more source