Results 71 to 80 of about 13,919 (205)

Comprehensive Review of BAP1 Tumor Predisposition Syndrome [PDF]

, 2015
Health Professions - Clinical: 4th Place, Honorable Mention (The Ohio State University Denman Undergraduate Research Forum)BRCA1-associated protein-1 (BAP1) tumor predisposition syndrome (BAP1-TPDS) is a rapidly developing area of medical research ...
Rai, Karan
core   +1 more source

Genetic testing in paediatric neurological disorders

Developmental Medicine &Child Neurology, EarlyView.
In this study 390 paediatric patients with neurological disorders underwent genetic testing via exome sequencing, commercial panel, in‐house epilepsy, and movement disorder gene panels. Exome sequencing provides the highest diagnostic yield, and severe developmental delay and hypotonia predicted pathogenic variants in the exome sequencing cohort ...
Wafa Bani Uraba, Byoung Chan Lee, Shekeeb S. Mohammad, Katrina Fisk, Michael Buckley, Russell C. Dale, Tony Roscioli, Paediatric Neurogenomic Working Group, Manoj P. Menezes, Sachin Gupta, Christopher Troedson, Esther Tantsis, Richard Webster, Bruce Bennetts, Deepak Gill, Kavitha Kothur   +15 more
wiley   +1 more source

Identifying BAP1 Mutations in Clear-Cell Renal Cell Carcinoma by CT Radiomics: Preliminary Findings

Frontiers in Oncology, 2020
To evaluate the potential application of computed tomography (CT) radiomics in the prediction of BRCA1-associated protein 1 (BAP1) mutation status in patients with clear-cell renal cell carcinoma (ccRCC).
Zhan Feng, Lixia Zhang, Zhong Qi, Qijun Shen, Zhengyu Hu, Feng Chen   +5 more
doaj   +1 more source

Estimation of the timing of BAP1 mutation in uveal melanoma progression

Scientific Reports, 2021
Uveal melanoma is the most common primary intraocular malignancy. A vast majority of metastasizing tumors have mutations in the BAP1 gene. Here, we investigate the spatiotemporal timing of these mutations.
Ogul E. Uner, Thonnie Rose O. See, Eszter Szalai, Hans E. Grossniklaus, Gustav Stålhammar   +4 more
doaj   +1 more source

BAP1-mediated stabilization of SUFU enhances E2F1 activity and promotes colorectal tumorigenesis

Cell Communication and Signaling
Background The Hedgehog (Hh) signaling pathway plays a pivotal role in tumorigenesis. SUFU (Suppressor of Fused), a key negative regulator of Hh signaling, also interacts with additional signaling pathways involved in cancer progression.
Jujin Zhang, Kai Li, Changan Wang, Deyu Kong, Bin Liang, Lili Han, Biao Liu, Kunpeng Wang, Pengfei Wang, Yun Zhao, Liya Ma, Jiayin Peng   +11 more
doaj   +1 more source

Clinicogenomic Features and Outcomes of Adenoid Cystic Carcinoma With Central Nervous System Metastases: A Single‐Institution Cohort Study

Head &Neck, Volume 48, Issue 11, Page 3193-3201, November 2026.
ABSTRACT Background Adenoid cystic carcinoma (ACC) is a rare malignancy with a propensity for perineural invasion and hematogenous spread. Central nervous system (CNS) involvement is uncommon, and detailed clinical and genomic data on this aspect of the disease remain limited.
Omar Elghawy, Jack Stylli, Martin Kurian, Eitan Halper‐Stromberg, Aditi Singh, Christopher D'Avella, Lee Hartner, Roger B. Cohen   +7 more
wiley   +1 more source

Histone Modifications at the Intersection of Aging, Neuroinflammation and Metabolism in Alzheimer's Disease

Aging Cell, Volume 25, Issue 11, November 2026.
This review examines how histone modifications integrate aging, metabolic dysfunction and neuroinflammation to shape persistent, cell‐type‐specific chromatin states in Alzheimer's disease. By distinguishing causal regulation from association through perturbation, persistence and reversibility, it highlights metabolic–epigenetic feedback loops and ...
Junyi Liang, Huawen Cao, Xiumin Ren, Nan Sha, Xueqing Han, Ling Jiang, Bin Liu, Weiming Zhao   +7 more
wiley   +1 more source

Characterization of somatic mutations in sporadic uveal melanoma and uveal melanoma in patients with germline BAP1 pathogenic variants.

PLoS ONE
Genetic analyses were conducted on tumor samples from 88 patients with uveal melanoma (UM), 6 of whom carry pathogenic germline variants in BAP1. We assessed the frequency, pattern, and prognostic significance of somatic aberrations, and investigated ...
Karin A W Wadt, Katja Harbst, Mette M B Sjøl, Frida Rosengren, Christina Westmose Yde, Kristoffer Staal Rohrberg, Marlene Richter Jensen, Steffen Heegaard, Jens Folke Kiilgaard, Anne-Marie Gerdes, Nicholas Hayward, Göran B Jönsson   +11 more
doaj   +1 more source

Broadening the Clinical and Molecular Spectrum of BAP1 Tumor Predisposition Syndrome: Findings from the First Reported Turkish Cohort

Acta Haematologica Oncologica Turcica
Aim: BAP1-tumor predisposition syndrome (BAP1-TPDS) is a rare autosomal dominant condition predisposing to multiple malignancies, most notably uveal melanoma and mesothelioma.
Ceren Damla Durmaz, Elifcan Taşdelen, Erdem Kındış, Hande Nur Cesur Baltacı, İrem Koç, Nesibe Saliha Bulut, Eren Kılınç, Özge Özalp, Munis Dündar, Naz Güleray Lafcı, Hayyam Kıratlı   +10 more
doaj   +1 more source

Epidemiological and Prognostic Differences in Malignant Mesothelioma Between Eastern China and SEER Database

Cancer Science, Volume 117, Issue 11, Page 3146-3159, November 2026.
For long years, patients and clinicians in Eastern China used Western data as information foundation for management and treatment of malignant mesothelioma, due to its rarity and lack of deep investigation. This study updated the epidemiological data of malignant mesothelioma in Eastern China, and revealed better survival outcomes compared to Western ...
Ningning Li, Ruting Wang, Wenya Zhang, Zulei Shao, Hongyu Lin, Guanai Bao, Weimin Mao, Zhongjian Chen   +7 more
wiley   +1 more source