Results 111 to 120 of about 1,098,495 (316)

DLL1 haploinsufficiency in prenatal brain anomalies: a retrospective analysis of 6q terminal deletions

Frontiers in Genetics
Objective6q terminal deletion is a rare genetic cause of prenatal brain anomalies. We evaluated five cases of cerebral dysplasia within a familial context for genetic diagnosis.
Tingting Ge, Tingting Ge, Xiaojuan Lin, Xiaojuan Lin, Xinyuan Tian, Xiaoyu Song, Xiaoyu Song, Bingbo Zhou, Ling Hui, Xiaozhuan Wang, Xiaozhuan Wang, Zhiqiang Zhang, Chuan Zhang   +12 more
doaj   +1 more source

Heterozygous loss‐of‐function alleles associate the conserved 3′‐5′ exoribonuclease EXOSC10 with hypersensitivity to the anticancer drug 5‐fluorouracil

Molecular Oncology, EarlyView.
EXOSC10, an essential nuclear RNA exosome‐associated 3′‐5′ exoribonuclease, is inhibited by the anticancer drug 5‐fluorouracil (5‐FU), and EXOSC10 depletion increases 5‐FU sensitivity. The colon‐cancer variant EXOSC10S402T, located in a proteolysis motif, is stable and nuclear but nonfunctional in vivo.
Radhika Sain, Yann Le Page, Frédéric Percevault, Emmanuelle Becker, Luc Negroni, Almudena Fernandez, Marta Cantero, Diego Muñoz‐Santos, Lluís Montoliu, Cyrille Garnier, Michael Primig   +10 more
wiley   +1 more source

A case of 18p deletion syndrome after blepharoplasty [PDF]

, 2017
Li-juan Xu,1 Lv-xian Wu,2 Qing Yuan,3 Zhi-gang Lv,1 Xue-yan Jiang2 1Department of Opthalmology, 2Department of Pediatrics, 3Department of Clinical Laboratory, Jinhua Central Hospital, Jinhua, Zhejiang, People’s Republic of China Objective: The ...
Wu LX, Lv ZG, Yuan Q, Xu LJ, Jiang XY
core  

Angiotensin-converting-enzyme gene insertion/deletion polymorphism and response to physical training [PDF]

, 1999
Background The function of local renin-angiotensin systems in skeletal muscle and adipose tissue remains largely unknown. A polymorphism of the human angiotensin converting enzyme (ACE) gene has been identified in which the insertion (I) rather than ...
Brynes, A.E., Hajnal, J.V., Jubb, M., Talmud, P., Montgomery, H., Rayson, M., Thomas, E.L., Prasad, K., Bell, J.D., Saeed, N., World, M., Clarkson, P., Hemingway, H., Mercer, D., Jarman, P., Marshall, R., Dollery, C., Humphries, S.E., Barnard, M.L.   +18 more
core   +1 more source

MATCHCLIP: Locate precise breakpoints for copy number variation using CIGAR string by matching soft clipped reads

Frontiers in Genetics, 2013
Copy number variations (CNVs) are associated with many complex diseases. Next generation sequencing data enable one to identify precise CNV breakpoints to better under the underlying molecular mechanisms and to design more efficient assays.
Yinghua eWu, Lifeng eTian, Mario ePirastu, Dwight eStambolian, Hongzhe eLi   +4 more
doaj   +1 more source

Longitudinal circulating tumor DNA profiling in patients with advanced endometrial cancer using an off‐the‐shelf targeted NGS panel

Molecular Oncology, EarlyView.
Intratumour heterogeneity complicates precision management of advanced endometrial cancer. Circulating tumor DNA (ctDNA) offers a minimally invasive strategy to capture tumor evolution and therapeutic resistance. Here, we compare tumor‐agnostic NGS with tumor‐informed ddPCR, outlining their relative sensitivity, concordance, and clinical implications ...
Carlos Casas‐Arozamena, Karin Teien Lande, Eva Diaz, Ana Vilar, Juan Cueva, Efigenia Arias, Victoria Sampayo, Alicia Abalo, Nerea González, Eva Colás, Antonio Gil‐Moreno, Miguel Abal, Gema Moreno‐Bueno, Therese Sørlie, Kristina Lindemann, Laura Muinelo‐Romay   +15 more
wiley   +1 more source

Congenital cytomegalovirus infection in a preterm infant with 22q11.2 deletion syndrome and immunological abnormalities [PDF]

The 22q11.2 deletion syndrome has many complications; one of them is immunodeficiency. However, the time of onset and the degree of immunodeficiency can vary. We report a case of a preterm infant with congenital cytomegalovirus infection complicated with
Kakiuchi, Satsuki, Kato, Motohiro, Mukai, Takeo, Takahashi, Naoto, Doi, Hideki, Shitara, Yoshihiko, Toyofuku, Etsushi, Kashima, Kohei   +7 more
core   +1 more source

Emergence and Pathogenicity of a Novel PRRSV-1 Strain GD18-2 in Southern China

Animals
The detection rate of Porcine Reproductive and Respiratory Syndrome Virus type 1 (PRRSV-1) in China has been increasing, with its growing genetic diversity and evolving pathogenicity posing significant challenges to disease control.
Feibao Huang, Hui Guo, Yi Song, Yuanyuan Fu, Guangrun Qin, Limiao Lin, Haishen Zhao, Bohua Ren, Qunhui Li, Yu Wu, Zezhong Zheng   +10 more
doaj   +1 more source

to delete

, 2021
to ...
khlifi, sawssen, zoua, ghazi
openaire   +1 more source

Interaction of HS1BP3 with cortactin modulates TKS5 localisation, cell secretion and cancer malignancy

Molecular Oncology, EarlyView.
Here, we demonstrate that HS1BP3 interacts with Cortactin through a proline‐rich region (PRR3.1) and show that this interaction, and HS1BP3 itself, promote cancer cell proliferation and invasion. Inhibition of this interaction leads to build‐up of TKS5 in multivesicular endosomes and altered secretion of CD63 and CD9, providing an explanation for the ...
Arja Arnesen Løchen, Kristiane Søreng, Chiara Veroni, Laura Trachsel‐Moncho, Nagham Asp, Robin Gaupset, Lars Gustav Lyckander, Helene Knævelsrud, Lars Eftang, Anne Simonsen   +9 more
wiley   +1 more source