Results 291 to 300 of about 207,257 (328)

Whole Exome Sequencing Identifies a Novel Frameshift Mutation of the WRN Gene in a Werner Syndrome Family and Functional Analysis. [PDF]

Mol Genet Genomic Med
Xiong H, Gao H, Wan J, Xiao J, Luo X, Dong X, Wu Y, Liu T.   +7 more
europepmc   +1 more source

Pathogenic variants identification in primary congenital glaucoma patients using whole exome sequencing. [PDF]

Sci Rep
Ahmad S, Gandapur MS, Jelani M, Muhammad A, Haq IU, Mahsood YJ, Ahmad S, Alonazi WB, Bibi N, Sarwar MT, Khan TA.   +10 more
europepmc   +1 more source

Epigenomics‐guided precision oncology: Chromatin variants in prostate tumor evolution

International Journal of Cancer, EarlyView.
Abstract Prostate cancer is a common malignancy that in 5%–30% leads to treatment‐resistant and highly aggressive disease. Metastasis‐potential and treatment‐resistance is thought to rely on increased plasticity of the cancer cells—a mechanism whereby cancer cells alter their identity to adapt to changing environments or therapeutic pressures to create
Kira Furlano, Tina Keshavarzian, Nadine Biernath, Annika Fendler, Maria de Santis, Joachim Weischenfeldt, Mathieu Lupien   +6 more
wiley   +1 more source

Diagnostic impact of whole exome sequencing in neurometabolic disorders in Syrian children: a single center experience. [PDF]

Orphanet J Rare Dis
Al Khudari R, Baqla S, Al Asmar D.
europepmc   +1 more source

Therapeutic targeting of chromatin alterations in leukemia and solid tumors

International Journal of Cancer, EarlyView.
Abstract Alterations in chromatin conformation and post‐translational modification of histones have become increasingly recognized as critical drivers of cancer development, progression, and therapy resistance. Recent advances in drug development have led to the establishment of several highly selective small molecule inhibitors, several of which are ...
Florian Perner, Tobias Berg, Daniel Sasca, Sophie‐Luise Mersiowsky, Jayant Y. Gadrey, Johanna Thomas, Michael W. M. Kühn, Michael Lübbert   +7 more
wiley   +1 more source

Identifying the germline variation spectrum and predisposition genes in Chinese ovarian cancer using whole exome sequencing. [PDF]

BMC Cancer
Guan X, Liao S, Zhang F, Zhu Q, Qiu H, Qin L, Zhang X.   +6 more
europepmc   +1 more source

Germline pathogenic variants in HIC1 DNA binding domains are associated with familial serrated polyposis syndrome

International Journal of Cancer, EarlyView.
What's New? Serrated polyposis syndrome has been associated with an increased risk of colorectal cancer. HIC1 is a tumor suppressor gene commonly silenced in serrated polyps and several cancers. This study suggests HIC1 as a novel germline predisposition factor to serrated polyposis syndrome, with variants altering gene transcriptional regulation and ...
Xavier Domínguez‐Rovira, Coral Arnau‐Collell, Gemma Gonfaus‐Ortiz, Gemma Llargués‐Sistac, Jenifer Muñoz, Ainara Llopis, Yasmin Soares de Lima, Cristina Herrera‐Pariente, Leticia Moreira, Teresa Ocaña, Marcos Díaz‐Gay, Miriam Cuatrecasas, Sabela Carballal, Anael López‐Novo, Guerau Fernàndez, Antoni Castells, Luis Bujanda, Gabriel Capellà, Joaquín Cubiella, Daniel Rodríguez‐Alcalde, Laura Valle, Francesc Balaguer, Clara Ruiz‐Ponte, Laia Bonjoch, Sergi Castellví‐Bel   +24 more
wiley   +1 more source

Unraveling genetic etiologies in complex pediatric neurological diseases: A genetic investigation using whole exome sequencing. [PDF]

PLoS One
Gaouzi Z, Belkhayat A, Takki ZC, Lachraf H, Diawara I, Kriouile Y.   +5 more
europepmc   +1 more source

Mass cytometric detection of homologous recombination proficiency in circulating tumor cells to predict chemoresistance of metastatic breast cancer patients

International Journal of Cancer, EarlyView.
What's New? Circulating tumor cells can offer insights into treatment responses and metastatic recurrence, but current analysis methods are limited. Here, the authors tested a newly developed mass cytometry panel comprising biomarkers such as γH2AX and RAD51 in longitudinally monitored metastatic breast cancer patients.
Kathrin Niedermayer, Henning Schäffler, Georgios Vlachos, Sara Greco, Kerstin Pfister, Barbara Volz, Leonie Ott, Hans Neubauer, Bernhard Polzer, André Koch, Sabine Riethdorf, Tanja Fehm, Wolfgang Janni, Thomas W. P. Friedl, Brigitte Rack, Ellen Heitzer, Fabienne Schochter, Lisa Wiesmüller   +17 more
wiley   +1 more source

Exome sequencing identifies genes for socioeconomic status in 350,770 individuals. [PDF]

Proc Natl Acad Sci U S A
Wu XR, Yang L, Wu BS, Liu WS, Deng YT, Kang JJ, Dong Q, Sahakian BJ, Feng JF, Cheng W, Yu JT.   +10 more
europepmc   +1 more source