Results 181 to 190 of about 837,511 (259)

Germline mutations of GCM2 cause a novel variant of hereditary primary hyperparathyroidism. [PDF]

Updates Surg
Iacobone M, Watutantrige-Fernando S, Zovato S, Tognazzo S, Dughiero S, Augenti V, Camozzi V, Mian C, Torresan F, Nomine-Criqui C, Brunaud L.   +10 more
europepmc   +1 more source

Germline mutations predispose a concurrent thymoma and diffuse large B-cell lymphoma. [PDF]

Ann Hematol
Fu X, Jiang Q, Mo W, Zhang J, Li Y, Miao Y, Zhang R.   +6 more
europepmc   +1 more source

Bipolar Androgen Therapy as a Potential Mechanistic Bridge to Enhance PARP Inhibitor Efficacy in Prostate Cancer

The Kaohsiung Journal of Medical Sciences, EarlyView.
ABSTRACT Prostate cancer remains a leading cause of cancer‐related mortality, largely driven by progression to metastatic castration‐resistant prostate cancer (mCRPC). Although poly(ADP‐ribose) polymerase inhibitors (PARPis) have improved outcomes in patients with homologous recombination repair (HRR) alterations, particularly in BRCA2‐mutated disease,
Jhen‐Hao Jhan, Jiun‐Hung Geng, Hung‐Lung Ke, Shu‐Pin Huang, Li Jia   +4 more
wiley   +1 more source

MEK Inhibitor Associated Airway Injury in an Infant With Noonan Syndrome: A Case Report

The Laryngoscope, EarlyView.
An infant with Noonan syndrome treated with trametinib developed extensive mucosal sloughing of the upper and lower airway, followed by severe supraglottic scarring. Clinicians should consider airway toxicity as a potential adverse effect of MEK inhibitor therapy.
Veronica Drozdowski‐Nuccio, Rachel D. Yoon, Steven Tomasi, Dana M. Thompson, Inbal Hazkani   +4 more
wiley   +1 more source

Comprehensive genomic profiling of breast cancer reveals mutational landscape and the PEEKABOO model: a population-specific assessment tool for predicting germline mutations. [PDF]

J Transl Med
Wu J, Xu Y, Xie F, Yang L, Li H, Liu M, Yang H, Wang C, Peng Y, Yang Y, Du W, Wang S.   +11 more
europepmc   +1 more source

Corrigendum: Germline mutations in patients with early-onset prostate cancer. [PDF]

Front Oncol
Tang T, Tan X, Wang Z, Wang S, Wang Y, Xu J, Wei X, Zhang D, Liu Q, Jiang J.   +9 more
europepmc   +1 more source

Somatic and Germline Mutations in Atypical Parathyroid Tumors.

JAMA Otolaryngol Head Neck Surg, 2023
Ullmann TM, Mulder M, Davis S, Rajwani T, Khanafshar E, Duh QY.   +5 more
europepmc   +1 more source

ATXN8OS Intermediate Expansion Acts as a Genetic Modifier in Spinocerebellar Ataxia Type 48 (SCA48/STUB1)

Movement Disorders, EarlyView.
Abstract Background Association between monoallelic STUB1 variant and expanded ATXN8OS alleles was recently reported, suggesting a pathogenic interaction that may influence spinocerebellar ataxia type 48 (SCA48) phenotype. Objectives We investigated the frequency and clinical impact of ATXN8OS in a large cohort of STUB1 carriers compared to individuals
Charlotte Mouraux, Jean‐Loup Méreaux, Claire‐Sophie Davoine, Léna Guillot Noel, Emilien Petit, Quentin Thomas, Adem Nasraoui, Anna Heinzmann, Claire Ewenczyk, Alexis Brice, Alexandra Durr, Giulia Coarelli   +11 more
wiley   +1 more source

Surgical decision-making in adult patients with epilepsy related to germline mutations: A single-center study. [PDF]

J Int Med Res
Podkorytova I, Alick Lindstrom S, Ding K, Perven G, Hays R.   +4 more
europepmc   +1 more source

The FGF/FGFR System in the Biology and Therapeutic Landscape of Pediatric CNS Tumors

Medicinal Research Reviews, EarlyView.
ABSTRACT Central nervous system (CNS) tumors are the most common solid malignancies in children, comprising a highly heterogeneous group of neoplasms defined by distinct molecular alterations and clinical behaviors. Advances in molecular genetics have underscored the relevance of specific signaling pathways in driving pediatric tumorigenesis, among ...
Serena Filiberti, Camilla Tavani, Elena Somenza, Nicolas Tassone, Antonio d'Amati, Marta Turati, Roberto Ronca   +6 more
wiley   +1 more source