Results 291 to 300 of about 304,363 (385)

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

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

High interferon response signatures in SLE patient leukocytes are associated with increased transposable element expression in gene introns and intergenic regions. [PDF]

Mob DNA
Arteaga-Vazquez LJ, Sepulveda H, Villalobos Reveles B, Suzuki K, Kalunian KC, Ay F, Boothby MR, Rao A.   +7 more
europepmc   +1 more source

Introns increase transcriptional efficiency in transgenic mice.

Proceedings of the National Academy of Sciences of the United States of America, 1988
R. Brinster, James M. Allen, R. Behringer, R. Gelinas, R. Palmiter   +4 more
semanticscholar   +1 more source

Skipping of an alternative intron in the srsf1 3' untranslated region increases transcript stability

, 2011
Yoko Akaike, Ken Kurokawa, Keisuke Kajita, Yuki Kuwano, Kiyoshi Masuda, Kensei Nishida, Seung Wan Kang, Toshihito Tanahashi, Kazuhito Rokutan   +8 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

PPR596 Is Required for nad2 mRNA Splicing and Complex I Biogenesis in Mitochondria of Arabidopsis thaliana. [PDF]

Physiol Plant
Peters L, Wagner VC, Schoeller T, Dwiani S, Schallenberg-Rüdinger M, Meyer EH, Kühn K.   +6 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 KH-domain genes FLK and HOS5 integrate flowering and stress responses in Arabidopsis thaliana. [PDF]

J Exp Bot
Rodríguez-Cazorla E, Ripoll JJ, Candela H, Aranda-Martínez A, Zavala-González E, García-Mina JM, Zamarreño ÁM, Martínez-Laborda A, Vera A.   +8 more
europepmc   +1 more source

Isolation and Characterization of Group II Introns from Pseudomonas alcaligenes and Pseudomonas putida

, 2001
Chew Chieng Yeo, Sheree Yiin, Bee Huat Tan, Chit Laa Poh   +3 more
openalex   +2 more sources