Results 111 to 120 of about 395,744 (213)

Classifying germline and somatic structural variants in tumor-only contexts using GaTSV. [PDF]

STAR Protoc
Chukwu W, Lee S, Crane A, Zhang S, Wala J, Dakhama O, Raskind G, Sun J, Beroukhim R, Dubois F, Dalin S.   +10 more
europepmc   +1 more source

Single‐cell DNA methylation profiling: Technologies, computation, and applications in precision oncology

Molecular Oncology, EarlyView.
Single‐cell DNA methylation (scDNAme) profiling maps epimutational clonal evolution, revealing mechanisms of malignancy and therapeutic resistance across diverse cancer types. By providing a high‐resolution landscape of intratumoral heterogeneity, these technologies empower precise patient stratification, guide the development of enhanced ...
Ik Soo Kim
wiley   +1 more source

Non-coding structural variants disrupting conserved PITX2 enhancer loci in Axenfeld-Rieger syndrome. [PDF]

Eur J Hum Genet
Mitchell LA, Schmidt J, Souzeau E, Knight LSW, Maxwell G, Dubowsky A, Lim R, Formaini E, Welland M, Simons C, MacArthur DG, Wiggs JL, Craig JE, Siggs OM.   +13 more
europepmc   +1 more source

Targeting transcription factors associated with hemoglobinopathies: Lessons from successful interventions and implications for cancer

Molecular Oncology, EarlyView.
This review summarizes the transcription factors, repressive chromatin‐modifying complexes, and epigenetic mechanisms that control fetal hemoglobin repression. Notably, many regulators of γ‐globin silencing also function in transcriptional and epigenetic networks that drive cancer, highlighting opportunities to translate advances in hemoglobinopathy ...
Meigen Yu, Puspa Das, Xing Zhang, Xiaodong Cheng   +3 more
wiley   +1 more source

Variant Curation of the Largest Compendium of <i>FOXL2</i> Coding and Noncoding Sequence and Structural Variants in BPES. [PDF]

Hum Mutat
Matton C, Van De Velde J, De Bruyne M, Van De Sompele S, Hooghe S, Syryn H, Bauwens M, D Haene E, Dheedene A, Cools M, Komatsuzaki S, Preizner-Rzucidło E, Ross A, Armstrong C, Watkins W, Shelling A, Vincent AL, Cassiman C, Vermeer S, Bunyan DJ, Verdin H, De Baere E.   +21 more
europepmc   +1 more source

CEACAM1 participation in breast cancer progression

Molecular Oncology, EarlyView.
In invasive breast cancer (BC), CEACAM1 shifts from an apical to a uniform membranous/cytoplasmic pattern, or is lost, as tumors dedifferentiate, inversely tracking the Ki‐67 proliferative index. In MCF‐7 cells, only CEACAM1‐4L suppresses proliferation, repressing cell cycle and growth factor genes.
Mykola Lyndin, Irina Kube‐Golovin, Anatolii Romaniuk, Gunther Wennemuth   +3 more
wiley   +1 more source

Convergent evolution of complex structural variants drives therapy resistance in metastatic prostate cancer. [PDF]

Genome Biol
Moreno-Rodriguez T, Zhang M, Lundberg A, Shrestha R, Sjöström M, Pasam A, Chan J, Devereux L, Foye A, Zhu X, Weinstein AS, Trigos AS, Wyatt AW, Alumkal JJ, Small EJ, Aggarwal R, Dehm SM, Bootsma ML, Zhao SG, Lupien M, Feng FY, Sandhu S, Quigley DA.   +22 more
europepmc   +1 more source

Spatial biology in cancer epigenetics

Molecular Oncology, EarlyView.
Spatial epigenomics combines molecular profiling with tissue architecture to reveal how gene regulation is organized within intact tissues. In cancer, these technologies uncover the mechanisms driving tumor heterogeneity and microenvironmental interactions, opening new opportunities for biomarker discovery and precision medicine.
Eva Crespo‐García, Manel Esteller
wiley   +1 more source

De Novo Genome Assemblies of Four Rainbow Trout Genetic Lines Reveal Structural Variants in Pursuit of a Pangenome Reference. [PDF]

Mol Ecol Resour
Ali A, Waldbieser GC, Youngblood RC, Wheeler PA, Scheffler BE, Willis S, Narum SR, Thorgaard GH, Salem M, Palti Y.   +9 more
europepmc   +1 more source

Intrapatient tumour heterogeneity and clonal evolution in an autopsy study of metastatic salivary gland cancer

Molecular Oncology, EarlyView.
Tumour heterogeneity and clonal evolution of metastatic salivary gland cancer were evaluated in two patients with adenoid carcinoma and one patient with myoepithelial carcinoma. Radiology‐guided autopsy enabled multi‐region sampling (total samples n = 149), followed by whole‐genome sequencing and phylogenetic reconstruction (17 tumour samples, 4–7 per ...
Gerben Lassche, Niels J. van Ruitenbeek, Charlotte Adang, Luke O'Gorman, Pui Yuen Lee, Willemijn M. Klein, Adriana C. H. van Engen‐van Grunsven, Jack A. Schalken, Sander Bervoets, Gerald W. Verhaegh, Carla M. L. van Herpen   +10 more
wiley   +1 more source