Results 221 to 230 of about 294,348 (299)

Dissecting Pirtobrutinib Resistance in Mantle Cell Lymphoma Through Single‐Cell Multi‐Omics

American Journal of Hematology, EarlyView.
ABSTRACT Pirtobrutinib (PBN), a non‐covalent BTK inhibitor, has been approved by the FDA for relapsed/refractory mantle cell lymphoma (MCL); however, resistance to PBN has been observed. To dissect the molecular dynamics driving PBN resistance, we performed integrative single‐cell multi‐omic profiling (scRNA‐seq, scATAC‐seq, and scDNA‐seq) on ...
Fangfang Yan, Yang Liu, Heng‐Huan Lee, Wei Wang, Joseph McIntosh, Yijing Li, Jovanny Vargas, Yue Fei, Sairah Ahmed, Lukas M. Simon, Michael Wang   +10 more
wiley   +1 more source

Chromatin relaxation dynamics and histone PTMs in the early DNA damage response

Cancer Biology & Medicine
Jinqin Qian, Zhongyi Xie, Liqun Zhou, Wei-Guo Zhu   +3 more
doaj   +1 more source

Circulating Tumor Cells in Multiple Myeloma: From Peripheral Clues to Central Insights

American Journal of Hematology, EarlyView.
CTC offer a minimally invasive widow into systemic myeloma biology, overcoming the sampling bias of bone marrow biopsies. Their prognostic value at diagnosis, potential role in MRD monitoring, and ability to capture clonal evolution highlight them as actionable biomarkers for future precision medicine.
Benjamin Podvin, Bruno Paiva, Irene M. Ghobrial, Salomon Manier   +3 more
wiley   +1 more source

The Novel ACTC1 p.Gly50Ser Variant Is Associated With Arrhythmia and Secondary Features of HCM Without Hypertrophy

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The key diagnostic criterion for hypertrophic cardiomyopathy is the presence of otherwise unexplained hypertrophy. Current definitions of HCM rely on specific thresholds to establish a diagnosis, while guideline directed risk stratification algorithms take its magnitude into consideration.
Thomas D. Gossios, Dimitrios Ntelios, Thomas Zegkos, Despoina Parcharidou, Pavlos Rouskas, Sotirios Katranas, Ioannis Papoulidis, Vlasis Ninios, Antonios Ziakas, Georgios K. Efthimiadis   +9 more
wiley   +1 more source

De Novo Complex Genomic Rearrangement Spanning 2q31.1 in a Proband With Congenital Malformations: Genotype–Phenotype Correlation and Development of a CGR Detection Pipeline

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The 2q31 region is commonly associated with pathogenic alleles of the HOXD cluster leading to various clinical phenotypes related to skeletal development. We present a proband with tetralogy of Fallot and multiple congenital anomalies. Genomic variant screening including an in‐house CGR detection pipeline pairing genome sequencing (GS ...
Katherine Helle, Jesse D. Bengtsson, Mira Gandhi, Christopher M. Grochowski, Ming Yin Lun, Neha Sudhir, Shalini N. Jhangiani, Fritz J. Sedlazeck, Seema R. Lalani, Neil A. Hanchard, Claudia M. B. Carvalho   +10 more
wiley   +1 more source

RAD52 resolves transcription-replication conflicts to mitigate R-loop induced genome instability. [PDF]

Nat Commun
Jalan M, Sharma A, Pei X, Weinhold N, Buechelmaier ES, Zhu Y, Ahmed-Seghir S, Ratnakumar A, Di Bona M, McDermott N, Gomez-Aguilar J, Anderson KS, Ng CKY, Selenica P, Bakhoum SF, Reis-Filho JS, Riaz N, Powell SN.   +17 more
europepmc   +1 more source

The cGAS-STING pathway regulates microglial chemotaxis in genome instability

, 2023
Talbot EJ, Joshi L, Thornton P, Dezfouli M, Tsafou K, Perkinton M, Khoronenkova SV.   +6 more
europepmc   +1 more source

Defining Features of Gabriele‐de Vries Syndrome in Adults: A Case Report and Literature Review

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Gabriele‐de Vries syndrome (GADEVS) is a neurodevelopmental disorder caused by heterozygous pathogenic variants in the YY1 gene. Like most rare genetic syndromes, the adult manifestations of GADEVS remain poorly defined. Here, we describe the oldest patient reported to date with GADEVS—a 63‐year‐old woman with a c.1177_1179del YY1 variant ...
Ethan W. Hollingsworth, Changrui Xiao
wiley   +1 more source

Erratum to “HSP27 mRNA Silencing and Radiation-Driven Endosomal-Lysosomal Escape of Lipid Nanomicelles Synergistically Radiosensitize Castration-Resistant Prostate Cancer Cells” [OpenNano, Volume 29, May 2026, 100300]

OpenNano
Quang Hieu Duong, Galdric Oliver, Thi Khanh Le, Ines Sousa, Xavier Muracciole, David Taïeb, Padovani Laetitia, Palma Rocchi   +7 more
doaj   +1 more source

The age-related decline of helicase function-how G-quadruplex structures promote genome instability. [PDF]

FEBS Lett
Frobel J, Hänsel-Hertsch R.
europepmc   +1 more source