Results 61 to 70 of about 10,290 (158)

A new subtype of Lynch syndrome associated with MSH2 c.354T>A (p. Y118*) identified in a Chinese family: case report and literature review

Frontiers in Genetics
BackgroundLynch syndrome (LS) is an autosomal dominant inherited disorder caused by mutations in mismatch repair genes. Genetic counseling is crucial for the prevention and treatment of LS, as individuals with these mutations have an increased lifetime ...
Lan Zhong, Lan Zhong, Wenxiang Wang, Wenxiang Wang, Wenxiang Wang, Yuanqiong Duan, Yuanqiong Duan, Liang Song, Liang Song, Zhanghuan Li, Kaixuan Yang, Qintong Li, Rutie Yin, Rutie Yin   +13 more
doaj   +1 more source

Molecular Mechanism of the IRF1/NFE2L1‐DT/ALKBH5/Cx43 Axis in Radiation‐Induced Injury in Vascular Endothelial Cells Through Pyroptosis

The Kaohsiung Journal of Medical Sciences, EarlyView.
ABSTRACT Radiotherapy effectively eradicates tumor cells but can also trigger pyroptotic damage in vascular endothelial cells. This study investigates the role of interferon regulatory factor 1 (IRF1) in radiation‐induced endothelial injury, aiming to provide mechanistic insights for optimizing radiotherapy.
Chen Li, Jia‐Wen Yang, Yong‐Rui Jia, Jie Zhang, Qiao Gou   +4 more
wiley   +1 more source

Genetic analysis of primary lung interdigitating dendritic cell sarcomas

The Journal of Pathology, EarlyView.
Abstract Interdigitating dendritic cell sarcomas (IDCSs) are rare tumors that commonly arise in the hematopoietic system and rarely outside. The genetic drivers of IDCS carcinogenesis are unknown; therefore, therapeutic options are limited. We investigated somatic gene mutations and copy‐number alterations (CNAs) in nine IDCSs arising in the lung by ...
Mikhail S Ermakov, Juliana Faria Filipe, Sylvia Eidenhammer, German Ott, Iris Halbwedl, Karl Kashofer, Helmut Popper   +6 more
wiley   +1 more source

An In‐Silico Study to Identify Relevant Biomarkers in Sepsis Applying Integrated Bulk RNA Sequencing and Single‐Cell RNA Sequencing Analyses

Global Challenges
This study aims to discover sepsis‐related biomarkers via in‐silico analyses. The single‐cell sequencing RNA (sc‐RNA) data and metabolism‐related genes are obtained from public databases and previous studies, respectively.
Qile Ye, Yuhang Dong, Jingting Liang, Jingyao Lv, Rong Tang, Shuai Zhao, Guiying Hou   +6 more
doaj   +1 more source

Dynamic modulation of phosphoprotein expression in ovarian cancer xenograft models [PDF]

, 2016
The authors thank Medical Research Scotland and the Scottish Funding Council. This work was su pported by Medical Research Scotland [FRG353 to V.A.S.]; the FP7 -­‐ Directorate -­‐ General for Research and Innovation of the European Commission [EU HEALTH -
Francis, Kyle, Harrison, David James, Kay, Charlene, Koussounadis, Antonis, Langdon, Simon, Smith, V Anne, Um, In Hwa   +6 more
core   +3 more sources

What Happens After Menopause (WHAM)? A Progress Report of a Prospective Controlled Study of Women After Pre‐Menopausal Risk‐Reducing Bilateral Salpingo‐Oophorectomy

BJOG: An International Journal of Obstetrics &Gynaecology, EarlyView.
ABSTRACT Surgical menopause, the removal of both ovaries prior to natural menopause, may impact short‐and long‐term physical and emotional health. An increasingly common cause of surgical menopause is risk‐reducing salpingo‐oophorectomy (RRSO) in those at high inherited risk of ovarian cancer.
Sarah A. L. Price, Pauline M. Maki, Samar R. El Khoudary, Alison Brand, Rakibul M. Islam, Susan M. Domchek, Hadine Joffe, Gita D. Mishra, Katrina M. Moss, Fiona C. Baker, Sabine Braat, John D. Wark, Martha Hickey   +12 more
wiley   +1 more source

Lack of microsatellite instability in gastrointestinal stromal tumors [PDF]

, 2017
The microsatellite instability (MSI) phenotype may constitute an important biomarker for patient response to immunotherapy, particularly to anti-programmed death-1 inhibitors. MSI is a type of genomic instability caused by a defect in DNA mismatch repair
Abrahão-Machado, Lucas Faria, Berardinelli, Gustavo N., Campanella, Nathália C., Guimarães, Denise Peixoto, Oliveira, Antônio Talvane Torres, Reis, R. M., Scapulatempo-Neto, Cristovam   +6 more
core   +1 more source

Comprehensive Assessment of the KDM2B‐Associated Neurodevelopmental Disorder and the 12q24.31 Microdeletion Syndrome

Clinical Genetics, EarlyView.
We set out to characterize genotype–phenotype correlations in the recently delineated KDM2B‐associated neurodevelopmental disorder. We observe a highly penetrant CxxC domain‐related phenotype with distinct facial features supported by GestaltMatcher. In contrast, our findings point to variable expressivity and incomplete penetrance of loss‐of‐function ...
Amber S. E. van Oirsouw, Tzung‐Chien Hsieh, Martijn Koetsier, Abdulrazak Alali, Fatimah Albuainain, Elena Bacchelli, Tahsin Stefan Barakat, Yline Capri, Sandra Chantot‐Bastaraud, Valeria Capra, Deanna Alexis Carere, Emma Clement, Nour Elkhateeb, Madeleine Franchi, Jing‐Mei Li, Nicole Matthews, Vanda McNiven, Sarju G. Mehta, Masayuki Nakamura, Chanika Phornphutkul, Nicole Revencu, Marcello Scala, Natalie Shallow, Jennifer Stefanich, Marta Viggiano, Paola Visconti, Susan Walker, Federico Zara, Mariëlle Alders, Bobby P. C. Koeleman, Renske Oegema   +30 more
wiley   +1 more source

Phosphatase PPP1CC Regulates the First Lineage Segregation by GAS5 in Mouse Preimplantation Embryos

Cell Proliferation, EarlyView.
Subcortical GAS5 directs PPP1CC phosphatase spatiotemporal positioning during mouse morula‐blastocyst transition, controlling YAP dephosphorylation to drive first embryonic lineage specification. ABSTRACT The transcriptional effector of the Hippo signalling pathway, YAP, regulates the first lineage specification in mouse preimplantation embryos ...
Jianwu Wang, Yan Zhang, Laijin Wu, Hongshuang Xie, Guang Yang, Yiwei Zhang, Cheng Huang, Shanyi Chou, Xuehan Li, Zhonghua Liu, Jiaqiang Wang   +10 more
wiley   +1 more source

DNA demethylation is involved in nitric oxide-induced flowering in tomato

Journal of Integrative Agriculture
Flowering is one of the most important phenological periods, as it determines the timing of fruit maturation and seed dispersal. To date, both nitric oxide (NO) and DNA demethylation have been reported to regulate flowering in plants.
Xuemei Hou, Meimei Shi, Zhuohui Zhang, Yandong Yao, Yihua Li, Changxia Li, Wenjin Yu, Chunlei Wang, Weibiao Liao   +8 more
doaj   +1 more source