Results 221 to 230 of about 250,365 (285)

Improving genetic diagnosis of hereditary tumor syndromes: From expanded gene panels to functional genomics

International Journal of Cancer, EarlyView.
Abstract Genetic tumor risk syndromes (genturis) contribute substantially to the overall cancer burden and provide opportunities for early detection, prevention, and individualized treatment. Yet, many affected individuals remain undiagnosed due to restrictive testing criteria and challenges in variant interpretation.
Mayra Sauer, Morghan C. Lucas, Vitus Prokosch, Thomas Keßler, Thomas Risch, Andreas Laner, Jan Henkel, Anna Benet‐Pagès, Ariane Hallermayr, Verena Steinke‐Lange, Elke Holinski‐Feder, Barbara Klink   +11 more
wiley   +1 more source

Oncogenic DEAD-box ATPase DDX41 establishes transcript ensembles via CLK3-dependent and -independent mechanisms. [PDF]

Nat Commun
Kim JA, Shen S, Jurotich CM, D'Souza SS, Caldon JJ, Slukvin II, Churpek JE, Keles S, Bresnick EH.   +8 more
europepmc   +1 more source

Crystal structures of a group II intron maturase reveal a missing link in spliceosome evolution

, 2016
Chen Zhao, Anna Marie Pyle
openalex   +2 more sources

Detecting TP53 mutations in paired liquid and tissue biopsies from patients with high‐grade serous ovarian carcinoma

International Journal of Cancer, EarlyView.
What's New? High‐grade serous ovarian carcinoma is often diagnosed at advanced stages due to non‐specific symptoms and the lack of reliable screening methods. This proof‐of‐concept study introduces a novel TP53 mutation panel using unique molecular identifier‐based next‐generation sequencing for sensitive detection of high‐grade serous ovarian ...
Amanda Olsson Widjaja, Peter Micallef, Maria Lycke, Tobias Österlund, Manuel Luna Santamaría, Julia Hedlund Lindberg, Therese Carlsson, Ulf Gyllensten, Anders Ståhlberg, Benjamin Ulfenborg, Anna Linder, Karin Sundfeldt   +11 more
wiley   +1 more source

Efficient genome editing by CRISPR-Cas12a in common wheat via shoot apical meristem delivery. [PDF]

Plant Physiol
Luo W, Ors S, Fang H, Zeng M, Cheng Y, Sidawy AE, Qi Y.   +6 more
europepmc   +1 more source

Pseudouridine modification in the tRNA(Tyr) anticodon is dependent on the presence, but independent of the size and sequence, of the intron in eucaryotic tRNA(Tyr) genes.

, 1988
Yves Choffat, Beat Suter, Renata Behra, Eric Kubli   +3 more
openalex   +2 more sources

Genomic signature driving preinvasive to invasive processes in stage I lung adenocarcinoma

International Journal of Cancer, EarlyView.
What's New? The progression of lung cancer from minimally invasive adenocarcinoma (MIA) to invasive adenocarcinoma (IA) is a complex process involving molecular and microenvironment changes. Key molecular events that drive the invasion process, however, remain poorly characterized. In this comparison of gene profiles and differentially mutated genes in
Biqin Mou, Yishan Duan, Jing Wang, Tiantian Li, Yuwei Huo, Xia Xiao, Conghui Cui, Zhujun Deng, Qiongxia Hu, Juan Jiang, Yiwei Liang, Sifen Lu, Xintong Tao, Kang Xie, Xinru Xiong, Niu Zhu, Liyun Bi, Faqiang Zhang, Weimin Li, Bojiang Chen   +19 more
wiley   +1 more source

Multi-omics study of molecular and genetic bases of orthostatic hypotension. [PDF]

Clin Epigenetics
Zelenova E, Daniel V, Bruttan M, Artemieva L, Spektor E, Mamchur A, Kashtanova D, Ivanov M, Abushinova G, Matkava L, Rumyantseva A, Ivashechkin A, Grebnev P, Golubnikova L, Mitrofanov S, Akopyan A, Beloshevskaya O, Saliyeva T, Tarasova I, Strazhesko I, Yudin V, Makarov V, Keskinov A, Tkacheva O, Yudin S, Skvortsova V.   +25 more
europepmc   +1 more source

The hidden regulators: Non‐coding RNAs in KMT2A‐rearranged acute lymphoblastic leukemia

International Journal of Cancer, EarlyView.
Abstract Acute lymphoblastic leukemia (ALL) driven by KMT2A rearrangements (KMT2A‐r) is an aggressive hematologic malignancy with poor prognosis and a high incidence in infants. While KMT2A fusion proteins drive leukemogenesis through transcriptional dysregulation, recent discoveries have highlighted the pivotal role of non‐coding RNAs (ncRNAs) in ...
Maria Augusta Poersch, Ana Carolina Rodrigues, Priscila Elias Ferreira Stricker, Alexandre Luiz Korte Azevedo, Daniel Pacheco Bruschi, Jaqueline Carvalho de Oliveira   +5 more
wiley   +1 more source

The exon junction complex coordinates the cotranscriptional inclusion of blocks of neighboring exons. [PDF]

Genes Dev
Bergfort A, Gordon JM, Gazzara MR, Hung CT, Lee B, Barash Y, Neugebauer KM.   +6 more
europepmc   +1 more source