Results 231 to 240 of about 122,453 (313)

Molecular and genomic advances in breast cancer: A comprehensive review of predictive and therapeutic innovations

Precision Medical Sciences, EarlyView.
Breast cancer subtypes, estrogen receptor‐positive (ER+), HER2‐enriched, and TNBC, are defined by genomic and epigenetic signatures. Multi‐omics profiling, immunotherapy, liquid biopsy, and AI‐driven radiogenomics enable precision medicine. Tools like Oncotype DX and PAM50 support personalized care.
Samina Malik, Arif Malik, Shahzad Ahmad, Hassan Mohsin, Shazia Iqbal   +4 more
wiley   +1 more source

Novel TP63 Mutation (c.1768C>T, p.Pro590Ser) Expands the Phenotypic Spectrum of TP63-related Disorders: Severe Palmoplantar Hyperkeratosis, Ectodermal Dysplasia, and Cutaneous Squamous Cell Carcinoma. [PDF]

Acta Derm Venereol
Xu X, Lin Z, Lin Y, Kang H, Xiao C.
europepmc   +1 more source

Prenatal detection and outcome of major heart defects in a country with universal screening

Ultrasound in Obstetrics &Gynecology, EarlyView.
ABSTRACT Objective To evaluate the Danish prenatal screening program for major fetal congenital heart defects (mCHD), focusing on incidence, detection rates (DRs), pregnancy outcomes and postnatal mortality. Methods This was a 5‐year nationwide cohort study conducted from January 2018 to December 2022 in Denmark.
C. Vedel, J. Steensberg, O. B. Petersen, H. Andersen, M. Barbosa, M. Christiansen, V. Gjørup, A. N. Jensen, K. Munk, K. Nyborg, A. W. Olesen, F. Ravn, L. Sperling, H. G. H. Thyregod, N. Vejlstrup, C. K. Ekelund   +15 more
wiley   +1 more source

Preliminary examination of noncoding mutations of esophageal squamous cell carcinoma in African Americans. [PDF]

Front Genet
Erkizan HV, Wadleigh R.
europepmc   +1 more source

WxS-QC - a quality control pipeline for human Whole-Genome and Whole Exome sequencing cohorts

Г. А. Захаров, Ruth Y. Eberhardt, Alina Frolova, Dmytro Horyslavets, Eric Hidari, Iaroslav Popov, Joanna Dennehy, Mykhailo Koreshkov, Pavlos Antoniou, Valeriia Ye. Kantsypa, Vladimir Ovchinnikov, Vivek Iyer   +11 more
openalex   +1 more source

Clinical application of whole exome and genome sequencing in pediatric neurodevelopmental disorders [PDF]

Keun Soo Lee, Seung Hwan Oh, Ja Young Lee, Go Hun Seo, Da Eun Roh, Ji Kyoung Park, Bo Lyun Lee   +6 more
openalex   +1 more source

Collaborative Genomics for Dystonia in Central and Eastern Europe: Successes Achieved, New Frontiers Ahead

Movement Disorders, EarlyView.
Robert Jech, Petra Havránková, Eugenia Tsoma, Lukáš Kunc, Tomáš Krajča, Ján Necpál, Olga Ulmanová, Aleksandra Tomic, Ivana Dzinovic, Irena Rektorová, Marek Baláž, Tereza Serranová, Stanislava Jaselska, Maria Giertlova, Kristina Kulcsarova, Alexandra Lackova, Denisa Harvanova, Miriam Ostrozovicova, Vladimir Han, GenDy Collaborators, Matej Škorvánek, Michael Zech   +21 more
wiley   +1 more source

Enhancement of immune checkpoint inhibitor efficacy by DHX58+ SELL+ T cells in advanced gastric cancer

VIEW, EarlyView.
We created a coculture system using patient‐derived organoids (PDOs) and tumor‐infiltrating lymphocytes (TILs) that mimics important interactions between PDOs and TILs in the presence of various ICIs. Our findings reveal that CD62L+ T cells, activated by CD44+ cancer stem cells (CSCs), facilitate tumor regression in samples sensitive to ICIs, which is ...
Jie Chen, Youdong Liu, Hongda Pan, Tianyi Cai, Mingde Zang, Xiaowen Liu, Ziwen Long, Xin Fan, Jun Lu, Fenglin Liu   +9 more
wiley   +1 more source

Diagnostic Yield and Genotype-Phenotype Overlap in Pediatric Autism Spectrum Disorder Patients Using Whole-Exome Sequencing and Phenotype-Driven Variant Interpretation: A Single-Center Cohort Study. [PDF]

Children (Basel)
Yaneva A, Levkova M, Stoyanova M, Hachmeriyan M, Angelova L, Pancheva R.   +5 more
europepmc   +1 more source

Cryptorchidism: Novel genetic insights into CCDC149 mutations

Andrology, EarlyView.
Abstract Background Cryptorchidism, characterized by the failure of one or both testes to descend into the scrotum, is a common congenital condition that can lead to infertility and increased risk of testicular cancer. CCDC149, a coiled‐coil domain‐containing protein, has been implicated in various developmental processes, but its role in the male ...
Shengrong Du, Shan Xu, Lei Yang, Yan Ye, Yuhan Wu, Ziyun Xiao, Xiuqing Dong, Wenliang Yao, Hua Li   +8 more
wiley   +1 more source