Results 141 to 150 of about 51,568 (249)

Targeting KRAS for cancer therapy

British Journal of Pharmacology, EarlyView.
In recent years, therapeutics targeted against KRAS proto‐oncogene GTPase (KRAS)‐mutant cancers have seen significant progress. Herein we outline the biology and epidemiology of KRAS alterations at the lineage and allele levels, reviewing the clinical evidence for KRASG12C inhibition from the discovery of the recessive switch pocket to sotorasib ...
Jianlong Jia, Ruonan Liu, Tonia A. Adamide, Isis E. Fernandez, Georgios T. Stathopoulos   +4 more
wiley   +1 more source

Identification of Copy Number Variants as a Suspected Cause of Cerebral Small Vessel Disease

Clinical Genetics, EarlyView.
Whole‐exome sequencing of 111 patients with suspected familial cerebral small vessel disease (CSVD) identified novel copy number variants in four patients across NOTCH3, LMNB1, and COL4A2, using bioinformatic and molecular techniques. These validated CNVs suggest structural variation is an underrecognized potential causal contributor to monogenic CSVD ...
Solomon K. Guyler, Neven Maksemous, Rodney A. Lea, Robert A. Smith, Heidi G. Sutherland, Lyn R. Griffiths   +5 more
wiley   +1 more source

Translesion Polymerases Drive Microhomology-Mediated Break-Induced Replication Leading to Complex Chromosomal Rearrangements. [PDF]

Mol Cell, 2015
Sakofsky CJ, Ayyar S, Deem AK, Chung WH, Ira G, Malkova A.   +5 more
europepmc   +1 more source

Phylogenomic analysis of ultraconserved elements clarifies relationships and morphological evolution in Cryptoplacoidea (Mollusca: Polyplacophora)

Cladistics, EarlyView.
Abstract Targeted enrichment of ultraconserved elements (UCEs) is a powerful tool for resolving phylogeny in groups with limited morphological or molecular data. Here, we use UCEs to reconstruct the first comprehensive phylogeny of the chiton superfamily Cryptoplacoidea, including museum material up to 133 years old.
Katarzyna Vončina, Zeyuan Chen, Enrico Schwabe, Anna K. Hundsdoerfer, Julia D. Sigwart   +4 more
wiley   +1 more source

Chromatin Modifications Orchestrate DNA Repair Pathway Choice: Epigenetics Strategies for Enhancing CRISPR–Cas9‐Mediated Knock‐In Efficiency

Cell Proliferation, EarlyView.
Histone modifications at CRISPR–Cas9‐induced DNA double‐strand breaks shape chromatin states and regulate DNA repair pathway choice. Transient epigenetic modulation may provide a promising strategy to enhance CRISPR–Cas9‐mediated gene knock‐in.
Xin Chen, Shan Qin, Ce Yang, Zhiyao Xing, Chong Liu, Xingchen Zhang, Xi Wu, Xueren Li, Yanhua Gong, Zichuan Liu   +9 more
wiley   +1 more source

Multifocal Epithelioid Hemangioma With FOSB Overexpression

Journal of Cutaneous Pathology, EarlyView.
ABSTRACT Epithelioid hemangioma (EH) is a benign vascular tumor that most commonly arises on the skin but may also occur in other anatomical locations, including deep soft tissue, bone, visceral organs, penis, and mucosal sites. A hallmark of EH is overexpression of FOS and FOSB, often resulting from various gene fusions.
Phuong Daniels, Aarush Kumar, Alexa Lum, Izabelle Bermudez, Shannon DeSilva, Jonathan Crane, Kristopher McKay   +6 more
wiley   +1 more source

The utility of the term ‘Rett‐like’ in relation to Rett syndrome: A systematic review

Developmental Medicine &Child Neurology, EarlyView.
Our findings show that ‘Rett‐like’ generally describes females with developmental disability, typically with no period of regression. We establish that there is a broad genetic landscape encompassing this disorder. Clinical utility of ‘Rett‐like’ is limited, with inadequate evidence of validity and diagnostic use of ‘Rett‐like’.
Anahita Khot, Daniel E Lumsden
wiley   +1 more source

Complex chromosomal rearrangements involving five chromosomes in chronic myelogenous leukemia: A case report. [PDF]

Oncol Lett, 2016
Fu GN, Fan HY, Han XJ, Xin CL.
europepmc   +1 more source

SKY92 Identifies High‐Risk Newly Diagnosed Multiple Myeloma With Inferior Progression‐Free Survival and Implicates NUF2 as a Candidate Driver

European Journal of Haematology, EarlyView.
ABSTRACT Objectives To determine the prevalence and prognostic significance of the SKY92 gene‐expression signature, evaluate minimal/measurable residual disease (MRD), and identify molecular drivers of high‐risk disease in transplant‐eligible newly diagnosed multiple myeloma (TE‐NDMM) patients in the Republic of Ireland.
Roisin M. McAvera, Izabela Cymer, John Quinn, Phillip T. Murphy, Patrick Thornton, Niamh McAuley, Harmony Black, Omar Abdelzaher, Catherine Duane, Tatiana Cichocka, Eva Szegezdi, Meegahage Perera, Gerard M. Crotty, Michelle Connolly, Aileen Walsh, Ruth Clifford, Janusz Krawczyk, Teresa Meenaghan, Vitaliy Mykytiv, Ezzat Elhassadi, Mark Coyne, Robert J. Cummins, Rowan Kuiper, Michael O'Dwyer, Siobhan V. Glavey   +24 more
wiley   +1 more source

Eosinophilia and Hypereosinophilia: A Practical Approach to Navigating a Broad Differential Diagnosis

European Journal of Haematology, EarlyView.
ABSTRACT Eosinophilia, defined as an absolute eosinophil count (AEC) of ≥ 0.5 × 109/L, is a frequently encountered finding with a vast spectrum of potential underlying etiologies. Hypereosinophilia (HE) is defined as AEC > 1.5 × 109/L and may become life‐threatening when eosinophil‐induced organ damage occurs, defining the hypereosinophilic syndrome ...
Stijn Wigerinck, Peter Vandenberghe
wiley   +1 more source