Results 201 to 210 of about 76,927 (296)

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

Clinical Value of MLPA for Prognostic Assessment of Chromosomal Rearrangements and DNA Methylation in Uveal Melanoma. [PDF]

Invest Ophthalmol Vis Sci
Soltysova A, Dvorska D, Ficek A, Pecimonova M, Samec M, Kasubova I, Horvathova Kajabova V, Demkova L, Babal P, Valaskova J, Dankova Z, Smolkova B, Furdova A.   +12 more
europepmc   +1 more source

Oncogenic BRAF and KRAS Promote Global DNA Hypomethylation Through a Directed Pathway That Upregulates TET3

Cancer Science, EarlyView.
Oncogenic BRAF and KRAS promote global DNA hypomethylation through a directed pathway that increases the levels of TET3, which helps drive tumorigenesis. ABSTRACT Aberrant epigenetic modification is one of the characteristics of the cancer genome.
Ichiro Onoyama, W. Rod Hardy, Shoichiro Takeishi, Lihua Julie Zhu, Yanglan Tan, Lloyd Hutchinson, Jianhong Ou, Leyuan Ma, Ching‐Man Virbasius, Masafumi Yasunaga, Keiichi I. Nakayama, Scott A. Shaffer, Michael R. Green   +12 more
wiley   +1 more source

Clinical and genetic characterization of intellectual disability

Developmental Medicine &Child Neurology, EarlyView.
This study examines the etiological factors and comorbidities in a large cohort of Finnish patients with intellectual disability. Genetic causes—including chromosomal abnormalities and pathogenic gene variants—were more frequently identified in individuals with moderate to profound intellectual disability.
Aarni Venetvaara, Minna Kraatari‐Tiri, Jussi‐Pekka Tolonen, Marko Merikukka, IDGEN Study Group, Hannaleena Kokkonen, Teija Paakkola, Susanna Varis, Antti Dahl, Jarmo Körkkö, Jonna Komulainen‐Ebrahim, Jukka Moilanen, Johanna Uusimaa, Outi Kuismin, Elisa Rahikkala   +14 more
wiley   +1 more source

A national long-read sequencing study on chromosomal rearrangements uncovers hidden complexities. [PDF]

Genome Res
Eisfeldt J, Ameur A, Lenner F, Ten Berk de Boer E, Ek M, Wincent J, Vaz R, Ottosson J, Jonson T, Ivarsson S, Thunström S, Topa A, Stenberg S, Rohlin A, Sandestig A, Nordling M, Palmebäck P, Burstedt M, Nordin F, Stattin EL, Sobol M, Baliakas P, Bondeson ML, Höijer I, Saether KB, Lovmar L, Ehrencrona H, Melin M, Feuk L, Lindstrand A.   +29 more
europepmc   +1 more source

Extranodal Marginal Zone Lymphoma: Integrating Etiology, Microenvironment, and Genetics Into Clinical Decision‐Making

European Journal of Haematology, EarlyView.
ABSTRACT Extranodal marginal zone lymphoma (EMZL) represents a unique paradigm among indolent B‐cell neoplasms, in which lymphomagenesis is frequently driven by chronic antigenic stimulation within tissue‐specific microenvironments. Persistent infectious or autoimmune triggers promote the development of ectopic lymphoid tissue and sustain B‐cell ...
Mamdouh Skafi, Santino Caserta, Enrica Antonia Martino, Ernesto Vigna, Antonella Bruzzese, Nicola Amodio, Marco Fiorillo, Eugenio Lucia, Graziella D'Arrigo, Virginia Olivito, Caterina Labanca, Francesco Mendicino, Maria Eugenia Alvaro, Giovanni Tripepi, Fortunato Morabito, Massimo Gentile   +15 more
wiley   +1 more source

The genome assembly of the westslope cutthroat trout, Oncorhynchus lewisi, reveals interspecific chromosomal rearrangements with the rainbow trout, Oncorhynchus mykiss. [PDF]

G3 (Bethesda)
Flores AM, Christensen KA, Godin T, Palti Y, Campbell MR, Waldbieser GC, Simpson SA, Scheffler BE, Smith SR, Whiteley AR, Kovach RP, Luikart G, Boyer MC, Kardos M, Relyea S, Wells C, Koop BF.   +16 more
europepmc   +1 more source

Homologous recombination mutants cause differing lethality between h− and h+ Schizosaccharomyces pombe strains due to mat1 heterochromatin

The FEBS Journal, EarlyView.
Homologous recombination (HR) in Schizosaccharomyces pombe is essential when mating‐type switching–induced double‐strand breaks (DSBs) form at the mat1 locus. In h90 and h− strains, efficient mat1 DSB formation renders HR indispensable unless suppressors block these breaks.
Peter Kolesar, Siarhei Paliavoi, Barbora Stefanovie, Jan Josef Palecek   +3 more
wiley   +1 more source

Chromosome aberrations cause tumorigenesis through chromosomal rearrangements in a hepatocarcinogenesis rat model. [PDF]

Cancer Sci
Nakamura K, Ishii Y, Takasu S, Namiki M, Soma M, Takimoto N, Matsushita K, Shibutani M, Ogawa K.   +8 more
europepmc   +1 more source

Spatially resolved mapping of histones reveals selective neuronal response in Rett syndrome

The FEBS Journal, EarlyView.
Loss of Mecp2 function is associated with Rett syndrome (RTT). MeCP2 regulates chromatin, yet its influence on histone composition and dynamics is unclear. Combining MALDI‐MSI with LCM–LC–MS/MS, we mapped histone proteoforms across the dentate gyrus, cornu ammonis, and cerebellum in two mouse models of RTT.
Frederike Schäfer, Giuseppina De Rocco, Moritz Völker‐Albert, Ignasi Forne, Nicoletta Landsberger, Axel Imhof, Shibojyoti Lahiri   +6 more
wiley   +1 more source