Results 271 to 280 of about 1,520,842 (344)

Development of a Large SNP Genotyping Array and Generation of High-Density Genetic Maps in Tomato

, 2012
Sung‐Chur Sim, Gregor Durstewitz, Jörg Plieske, Ralf Wieseke, Martin W. Ganal, Allen Van Deynze, John P. Hamilton, C. Robin Buell, Mathilde Causse, Saranga Wijeratne, David M. Francis   +10 more
openalex   +2 more sources

Identification of a distinct epigenetic subgroup with inferior PFS in intracranial mesenchymal tumors with FET::CREB fusion

Brain Pathology, EarlyView.
Six new cases of intracranial mesenchymal tumors with FET::CREB fusion, alongside 20 previously reported cases underwent DNA methylation profiling uncovered a novel epigenetic subgroup distinguished by inferior PFS and unique clinicopathological, molecular, and epigenetic hallmarks.
Yong Lin, Yun Ning, Yang Lan, Yu‐Juan Cao, Rui‐Jiao Zhao, Hai‐Nan Li, Song Duan, Wei‐Wei Fu, Hai‐Bo Wu, Feng Wu, Xiu‐Wu Bian, Tao Luo, Xiao‐Hong Yao   +12 more
wiley   +1 more source

Genetic variants linked to statin‐associated Type 2 diabetes mellitus: Findings from the UK Biobank and the All of Us Research Program

British Journal of Pharmacology, EarlyView.
Background and Purpose Statins are widely prescribed for the prevention of cardiovascular disease, yet recent studies suggest an increased risk of new‐onset Type 2 diabetes mellitus. This study aimed to identify genetic variants associated with statin‐associated new‐onset Type 2 diabetes mellitus from the UK Biobank and All of Us.
Yoon‐A Park, Da Hoon Lee, Jung Sun Kim, Jeong Yee, Hye Sun Gwak   +4 more
wiley   +1 more source

GWAS Identifies SNPs Associated With Severe Adverse Events and Efficacy in Advanced Renal Cell Carcinoma Treated With Nivolumab

Cancer Science, EarlyView.
This study highlights the importance of germline genetic markers in predicting severe trAEs caused by nivolumab. Our findings support their potential to guide personalized immunotherapy and improve treatment safety and efficacy in advanced ccRCC and other cancers.
Tokiyoshi Tanegashima, Masaki Shiota, Shusuke Akamatsu, Hideaki Miyake, Masayuki Takahashi, Mototsugu Oya, Norihiko Tsuchiya, Naoya Masumori, Hideyasu Matsuyama, Wataru Obara, Nobuo Shinohara, Kiyohide Fujimoto, Masahiro Nozawa, Kojiro Ohba, Chikara Ohyama, Katsuyoshi Hashine, Tomomi Kamba, Koji Mita, Momokazu Gotoh, Shuichi Tatarano, Masato Fujisawa, Yoshihiko Tomita, Shoichiro Mukai, Keiichi Ito, Shoji Tokunaga, Masatoshi Eto, SNiP‐RCC investigators   +26 more
wiley   +1 more source

Genome-wide QTL mapping for agronomic traits in the winter wheat cultivar Pindong 34 based on 90K SNP array. [PDF]

Front Plant Sci
Zhang L, Luo Y, Zhong X, Jia G, Chen H, Wang Y, Zhou J, Ma C, Li X, Huang K, Yang S, Wang J, Han D, Ren Y, Cai L, Zhou X.   +15 more
europepmc   +1 more source

Differential Impact of BMI‐Associated Genetic Variants on Breast Cancer Risk: Insights From Mediation Analysis

Cancer Science, EarlyView.
This mediation analysis revealed that two BMI‐associated genetic variants, BDNF rs6265 and FTO rs1421085, may influence postmenopausal breast cancer risk through changes in BMI, and that BDNF rs6265 may also exert a direct effect through pathways independent of BMI.
Yuri Ando, Yuriko N. Koyanagi, Yuji Iwashita, Sayaka Yamamoto, Yumiko Kasugai, Isao Oze, Masahiro Nakatochi, Fumikata Hara, Fumihiko Matsuda, Issei Imoto, Hidemi Ito, Keitaro Matsuo   +11 more
wiley   +1 more source

Six New Cases of 22q13.2 Gain Including TFC20: First Report of Triplication and Smallest Duplication Associated With Neurodevelopmental Delays

Clinical Genetics, EarlyView.
This study reports six new cases of 22q13.2 duplication and triplication, including the TCF20 gene, associated with neurodevelopmental disorders and various morphological and systemic abnormalities. The findings suggest a variable expressivity, but their complete penetrance remains uncertain compared to well‐established loss‐of‐function variants ...
Etienne Bizot, Dima Jouni, Caroline Rooryck, Juliet Taylor, Marine Legendre, Lorelei Charbonnier, Julia Metreau, Emmanuelle Benaloun, Audrey Pinson, Geneviève Quenum, Jérôme Bouligand, Gérard Tachdjian, Philippe Labrune, Lucie Tosca   +13 more
wiley   +1 more source

High Concordance of Copy Number Variants Detected by Chromosomal Microarray and Exome Sequencing in Clinical Diagnostics

Clinical Genetics, EarlyView.
To assess the relevance of exome sequencing as a first‐tier diagnostic tool, three aspects were investigated: detection of copy number variants (CNVs) from exomes as compared to chromosomal microarray, clinically‐relevant CNVs across all sizes, and additional diagnostic utilities (uniparental disomy and triploidy).
Rivka Birnbaum, Maya Slovik, Shamir Zenvirt, Ilana Livyatan, Israel Altman, Shiri Gershon, Jonathan Rips, Hagit Daum, Chaggai Rosenbluh, Orly Elpeleg, Vardiella Meiner, Ayala Frumkin, Hagar Mor‐Shaked, Tamar Harel   +13 more
wiley   +1 more source

Genome-Wide Copy Number Variations Inferred from SNP Genotyping Arrays Using a Large White and Minzhu Intercross Population

, 2013
Ligang Wang, Xin Liu, Longchao Zhang, Hua Yan, Weizhen Luo, Jing Liang, Duxue Cheng, Shaokang Chen, Xiaojun Ma, Xin Song, Kebin Zhao, Lixian Wang   +11 more
openalex   +2 more sources

Genetic Landscape of Robin Sequence: A Systematic Review

Clinical Genetics, EarlyView.
This systematic review summarizes the genetic landscape of Robin sequence (RS), highlighting key differences between isolated and non‐isolated forms and emphasizing the role of up‐to‐date genetic testing for diagnosis and clinical management. ABSTRACT Robin sequence (RS) is a congenital condition characterized by micrognathia, glossoptosis, and upper ...
Shirley van de Velde, Aebele B. Mink van der Molen, Augusta M. A. Lachmeijer, Daan de Leijer, Jeroen J. Smits, Maarten P. G. Massink, Sarah L. Versnel, Marie‐José H. van den Boogaard, Emma C. Paes   +8 more
wiley   +1 more source