Results 11 to 20 of about 751 (109)

The role of genetic polymorphisms in endolysosomal ion channels TPC2 and P2RX4 in cancer pathogenesis, prognosis, and diagnosis: a genetic association in the UK Biobank [PDF]

npj Genomic Medicine, 2021
Recent studies have implicated important roles for endolysosomal ion channels in cancer biology. We used UK Biobank data to characterise the relationships between genetic variants in two genes coding for endolysosomal ion channels—i.e.
Abeer F. Alharbi, John Parrington
doaj   +3 more sources

Overexpression of ORAOV1 and its association with immunotherapy resistance in hepatocellular carcinoma [PDF]

PeerJ
Hepatocellular carcinoma (HCC) is a major cause of cancer-related mortality globally. Previous studies have reported that oral cancer overexpression 1 (ORAOV1) is overexpressed in HCC and correlated with poor prognosis, yet its molecular mechanisms ...
Yuzhen Huang, Ni Yang, Su Wen, Ziwei Fang, Yucong Zhang, Zonghao Qian, Yi Huang, Tiejun Yin, Cuntai Zhang, Le Zhang   +9 more
doaj   +4 more sources

Whole-exome sequencing identifies cancer-associated variants of the endo-lysosomal ion transport channels in the Saudi population [PDF]

Saudi Pharmaceutical Journal
Background: Although national efforts are underway to document the genomic variability of the Saudi population relative to other populations, such variability remains largely unexplored.
Lama Binobaid, Homood M. As Sobeai, Khalid Alhazzani, Lama AlAbdi, Meshari M. Alwazae, Moureq Alotaibi, John Parrington, Ali Alhoshani   +7 more
doaj   +3 more sources

Tpcn2 knockout mice have improved insulin sensitivity and are protected against high-fat diet-induced weight gain [PDF]

Physiological Genomics, 2018
Type 2 diabetes is a complex disorder affected by multiple genes and the environment. Our laboratory has shown that in response to a glucose challenge, two-pore channel 2 ( Tpcn2) knockout mice exhibit a decreased insulin response but normal glucose clearance, suggesting they have improved insulin sensitivity compared with wild-type mice.
Hong, He, Katie, Holl, Sarah, DeBehnke, Chay Teng, Yeo, Polly, Hansen, Abraham K, Gebre, Sandra, Leone-Kabler, Margarida, Ruas, John S, Parks, John, Parrington, Leah C, Solberg Woods   +10 more
openaire   +3 more sources

Increased expression of fatty-acid and calcium metabolism genes in failing human heart. [PDF]

PLoS ONE, 2012
BackgroundHeart failure (HF) involves alterations in metabolism, but little is known about cardiomyopathy-(CM)-specific or diabetes-independent alterations in gene expression of proteins involved in fatty-acid (FA) uptake and oxidation or in calcium-(Ca ...
Vanessa García-Rúa, Manuel Francisco Otero, Pamela Virginia Lear, Diego Rodríguez-Penas, Sandra Feijóo-Bandín, Teresa Noguera-Moreno, Manuel Calaza, María Álvarez-Barredo, Ana Mosquera-Leal, John Parrington, Josep Brugada, Manuel Portolés, Miguel Rivera, José Ramón González-Juanatey, Francisca Lago   +14 more
doaj   +4 more sources

Permeation Properties of Two Pore Channel 2 (TPCN2)-Mediated Ca2+ Currents Recorded from Single Lysosomes [PDF]

Biophysical Journal, 2011
Nicotinic acid adenine dinucleotide phosphate (NAADP) is a second messenger that releases Ca2+ from intracellular stores at low nanomolar concentrations. NAADP-evoked Ca2+-release has been demonstrated in invertebrates and numerous mammalian cell types including pancreatic acinar and beta-cells, cardiac and smooth muscle cells, T-lymphocytes, platelets
Schieder, Michael, Hassan, Sami, Roetzer, Katrin, Biel, Martin, Wahl-Schott, Christian   +4 more
openaire   +3 more sources

A gain-of-function TPC2 variant R210C increases affinity to PI(3,5)P(2) and causes lysosome acidification and hypopigmentation [PDF]

Nat Commun, 2023
Albinism is a group of inherited disorders mainly affecting skin, hair and eyes. Here we identify a de novo point mutation, p.R210C, in the TPCN2 gene which encodes Two Pore Channel 2 (TPC2) from a patient with albinism.
Wang, Wenhui, Li, Wei, Wang, Zengge, Chen, Yuanying, Qiaochu Wang, Zhan Qi, Wenjian Xu, Jian Xiong, Dayong Bai, Xu, Wenjian, Aihua Wei, Qi, Zhan, Jaepyo Jeon, Wei Li, Wang, Chentong, Jeon, Jaepyo, Liu, Pengyu, Zhang, Yalin, Zhu, Michael X, Wei, Aihua, Chentong Wang, Yan, Li, Bai, Dayong, Wang, Yizhen, Yuanying Chen, Hao, Chanjuan, Zengge Wang, Zhu, Michael Xi, Zhu, Xili, Xili Zhu, Xiong, Jian, Wang, Qiaochu, Yizhen Wang, Wang, Jin, Yu, Ye, Chanjuan Hao, Michael Xi Zhu   +36 more
core   +2 more sources

Genetic Associations and Differential mRNA Expression Levels of Host Genes Suggest a Viral Trigger for Endemic Pemphigus Foliaceus [PDF]

Viruses, 2022
The long search for the environmental trigger of the endemic pemphigus foliaceus (EPF, fogo selvagem) has not yet resulted in any tangible findings. Here, we searched for genetic associations and the differential expression of host genes involved in ...
Valéria Bumiller-Bini Hoch, Ana Flávia Kohler, Danillo G. Augusto, Sara Cristina Lobo-Alves, Danielle Malheiros, Gabriel Adelman Cipolla, Angelica Beate Winter Boldt, Karin Braun-Prado, Michael Wittig, Andre Franke, Claudia Pföhler, Margitta Worm, Nina van Beek, Matthias Goebeler, Miklós Sárdy, Saleh Ibrahim, Hauke Busch, Enno Schmidt, Jennifer Elisabeth Hundt, Patrícia Savio de Araujo-Souza, Maria Luiza Petzl-Erler   +20 more
doaj   +2 more sources

Blood Transcriptome Analysis of Beef Cow with Different Parity Revealed Candidate Genes and Gene Networks Regulating the Postpartum Diseases [PDF]

Genes (Basel), 2022
Maternal parity is an important physiological factor influencing beef cow reproductive performance. However, there are few studies on the influence of different calving periods on early growth and postpartum diseases.
Zhou, Le, Baiyin, Batu, Yanda Yang, Shi, Caixia, Chang, Chencheng, Batu Baiyin, Lili Guo, Liu, Bin, Chencheng Chang, Wenguang Zhang, Zhang, Wenguang, Caixia Shi, Liu, Zaixia, Yang, Yanda, Bin Liu, Le Zhou, Guo, Lili, Zaixia Liu   +17 more
core   +2 more sources

Identification of epigenetic interactions between miRNA and DNA methylation associated with gene expression as potential prognostic markers in bladder cancer

BMC Medical Genomics, 2017
Background One of the fundamental challenges in cancer is to detect the regulators of gene expression changes during cancer progression. Through transcriptional silencing of critical cancer-related genes, epigenetic change such as DNA methylation plays a
Manu Shivakumar, Younghee Lee, Lisa Bang, Tullika Garg, Kyung-Ah Sohn, Dokyoon Kim   +5 more
doaj   +2 more sources