Results 261 to 270 of about 125,953 (296)

Combining chromosome conformation capture and exome sequencing for simultaneous detection of structural and single-nucleotide variants. [PDF]

Genome Med
Gridina M, Lagunov T, Belokopytova P, Torgunakov N, Nuriddinov M, Nurislamov A, Nazarenko LP, Kashevarova AA, Lopatkina ME, Vasilyev S, Zuev A, Belyaeva EO, Salyukova OA, Cheremnykh AD, Sukhanova NN, Minzhenkova ME, Markova ZG, Demina NA, Stepanchuk Y, Khabarova A, Yan A, Valeev E, Koksharova G, Grigor'eva EV, Kokh N, Lukjanova T, Maximova Y, Musatova E, Shabanova E, Kechin A, Khrapov E, Boyarskih U, Ryzhkova O, Suntsova M, Matrosova A, Karoli M, Manakhov A, Filipenko M, Rogaev E, Shilova NV, Lebedev IN, Fishman V.   +41 more
europepmc   +1 more source

Rare missense variants in <i>FNDC1</i> are associated with severe adolescent idiopathic scoliosis. [PDF]

J Med Genet
Charng WL, Haller G, Whittle J, Nikolov M, Avery A, Morcuende J, Giampietro P, Raggio C, Miller N, Justice AE, Strande NT, Seeley M, Bodian DL, Wise CA, Sepich DS, Dobbs MB, Gurnett CA.   +16 more
europepmc   +1 more source

Recurrent schwannomatosis with mosaic SMARCB1 loss: A case report. [PDF]

Exp Ther Med
Lakhina Y, Lim MA, Yonk MG, Campbell M, Tora MS, Du Y, Koshkin S, Lei K, Boulis NM.   +8 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

Fast and efficient method for parallel construction of targeted exome and methylome single-stranded DNA sequencing libraries. [PDF]

Sci Rep
Kim E, An S, Ahn H, Lim J, Kim SK, Park AK.   +5 more
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

Whole-genome and whole-exome sequencing of Mayer-Rokitansky-Küster-Hauser syndrome-discordant monozygotic twins. [PDF]

J Assist Reprod Genet
Ma W, Fu F, Wang W, Ma X, Wang S, Wang M, Li Y.   +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

Genetic etiology of 283 Chinese individuals with epilepsy using copy number variation sequencing and whole exome sequencing: a single-center cohort study. [PDF]

BMC Med Genomics
Hu J, Xin M, Liu J, Li H, Li X, Chen L, Yang P, Zhao H, Sun P, Gao G, Feng H, Li Z, Xiao G, Li Y, Li K, Xu X.   +15 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