Results 81 to 90 of about 384,456 (306)

A Depolarizing Leak in Sodium Bicarbonate Cotransporter NBCe1 Causes Brain Edema

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objectives SLC4A4 encodes electrogenic sodium bicarbonate cotransporter NBCe1, prominently expressed in kidney and brain. Recessive loss‐of‐function variants in SLC4A4 cause proximal renal tubular acidosis, no brain edema. In the brain, NBCe1 is expressed by astrocytes, where it regulates pH and mediates astrocyte volume changes.
Quinty Bisseling, Mark D. Parker, Sven Kerst, Richard A. Pasternack, Jacob Tondreau, Marjolein Breur, Gemma M. van Rooijen‐van Leeuwen, Davide Tonduti, Ettore Salsano, Alejandra Darling, Joanna A. E. van Wijk, Susanna Törnroth‐Horsefield, Marianna Bugiani, Petra J. W. Pouwels, Quinten Waisfisz, Marjo S. van der Knaap, Rogier Min   +16 more
wiley   +1 more source

BDNFVal66Met and 5-HTTLPR genotype are each associated with visual scanning patterns of faces in young children

Frontiers in Behavioral Neuroscience, 2015
Previous studies have documented both neuroplasticity-related BDNF Val66Met and emotion regulation-related 5-HTTLPR polymorphisms as genetic variants that contribute to the processing of emotions from faces. More specifically, research has shown the BDNF
Antonios I. Christou, Yvonne eWallis, Hayley eBair, Hayley eCrawford, Hayley eCrawford, Steven eFrisson, Maurice eZeegers, Joseph eMcCleery, Joseph eMcCleery   +8 more
doaj   +1 more source

Are genetic risk factors for psychosis also associated with dimension-specific psychotic experiences in adolescence? [PDF]

, 2014
Psychosis has been hypothesised to be a continuously distributed quantitative phenotype and disorders such as schizophrenia and bipolar disorder represent its extreme manifestations.
Plomin, Robert, Freeman, D, Daniel Freeman, Angelica Ronald (346752), Sieradzka, D., Robert Plomin (27675), Dominika Sieradzka (549507), Cardno, Alastair G., Power Robert A., Power, Robert, Cardno, A.G., McGuire, P, McGuire, Philip, Angelica Ronald, Sieradzka Dominika, Alastair G Cardno, Ronald, Angelica, Ronald, A, Philip McGuire (325649), Robert Plomin, Sieradzka, Dominika, Freeman, Daniel, Power, RA, Power, R.A., Cardno Alastair G., Ronald Angelica, Robert A. Power (549508), Meaburn, Emma L, McGuire, P., Cardno, AG, Dudbridge Frank, Freeman Daniel, Dominika Sieradzka, Frank Dudbridge, Robert A Power, Meaburn Emma L., Meaburn, EL, Sieradzka, D, Alastair G. Cardno (549510), Plomin, R., Dudbridge, Frank, Daniel Freeman (549509), Meaburn, Emma L., Plomin Robert, Freedman, D., Power, Robert A, Plomin, R, Cardno, Alastair G, Emma L. Meaburn (397318), McGuire Philip, Philip McGuire, Dudbridge, F, Frank Dudbridge (102283), Emma L Meaburn   +53 more
core   +2 more sources

Clinical Significance of Therapeutic Drug Level Monitoring for Mycophenolate in Patients With Extrarenal Systemic Lupus Erythematosus—A Systematic Review and Meta‐Analysis

Arthritis Care &Research, EarlyView.
Objective Clinical response to mycophenolic acid (MPA) is highly heterogeneous; thus, therapeutic drug level monitoring (TDM) may help improve treatment efficacy. This systematic review and meta‐analysis examined therapeutic ranges for MPA levels associated with better outcomes and safety in patients with systemic lupus erythematosus (SLE ...
Zahraa Qamhieh, Dalia Sriwi, Callie Saric, Tripti Singh, Christie M. Bartels, Shivani Garg   +5 more
wiley   +1 more source

Autism-associated SNPs in the clock genes _npas2_, _per1_ and the homeobox gene _en2_ alter DNA sequences that show characteristics of microRNA genes. [PDF]

, 2008
Intronic single nucleotide polymorphisms (SNPs) in the clock genes _npas2_ and _per1_ and the homeobox gene _en2_ are reported to be associated with autism.
Michael J. Owen, Dawn C. Wimpory, Brad Nicholas, Thomas Caspari   +3 more
core   +1 more source

HR-snps [PDF]

, 2015
The genotype of the second cross (HR) in Linkage ...
Juha Merilä (192116), Federico CF Calboli (3287877), Rastas, Pasi, Pasi Rastas (3287856), Guo, Baocheng, Merilä, Juha, Shikano, Takahito, Takahito Shikano (192100), Baocheng Guo (3245610), Calboli, Federico CF   +9 more
core   +1 more source

A Dual‐Bioresponsive and Programmable Microneedle Matrix as a Bioinspired Coupler for Orchestrating Diabetic Bone Regeneration

Advanced Materials, EarlyView.
This project developed a smart bandage‐like patch (a microneedle array) for repairing diabetic bone damage. It intelligently senses signals from infection and inflammation, then releases its medicines in a specific, timed sequence: first an antibacterial agent, then an anti‐inflammatory agent, and finally growth factors.
Yu Wang, Rui Chen, Yu Chen, Haowen Lu, Yuchen Qian, Zhiheng Gao, Zheming Shen, Xiaofei Zheng, Huilin Yang, Jun Zou, Yusen Qiao   +10 more
wiley   +1 more source

Utility of the pooling approach as applied to whole genome association scans with high-density Affymetrix microarrays. [PDF]

, 2010
Background: We report an attempt to extend the previously successful approach of combining SNP (single nucleotide polymorphism) microarrays and DNA pooling (SNP-MaP) employing high-density microarrays.
Farmer, A., Pirlo Katrina, Farmer, Anne E, Gray, J, Jones, L, Emma Meaburn (27672), Ian W Craig (16171385), Gaysina, D, Ian W Craig, Emma Meaburn, Craig, I., Korszun Ania, Cohen-Woods Sarah, Gray Joanna, Cohen-Woods, Sarah, Schalkwyk, L.C., McGuffin Peter, Darya Gaysina, Craig, Ian W, Farmer, AE, Schosser, A, Gray, J., Elkin, Amanda, Schalkwyk, L., Gray, Joanna, Craig, IW, Schalkwyk Leonard C, Schosser Alexandra, Lisa Jones (98953), Gunasinghe, C, Sarah Cohen-Woods (214940), Pirlo, K., Craig, I.W., Jones Lisa, Alexandra Schosser (214931), Gaysina Darya, Cerisse Gunasinghe (16171376), Schosser, Alexandra, McGuffin, P., Meaburn Emma, Meaburn, E., Amanda Elkin, Leonard C Schalkwyk, Alexandra Schosser, Ania Korszun (214946), Anne E Farmer, Joanna Gray, Lisa Jones, McGuffin, P, Pirlo, Katrina, Elkin Amanda, Katrina Pirlo, Gaysina, Darya, Schosser, A., Elkin, A., Schalkwyk, LC, Korszun, A., Peter McGuffin, Gunasinghe, Cerisse, Amanda Elkin (16049114), Craig Ian W, Sarah Cohen-Woods, Joanna Gray (16171373), Anne E Farmer (10497512), Farmer Anne E, Gaysina, Daria, Ania Korszun, Pirlo, K, Gunasinghe, C., Peter McGuffin (51507), Meaburn, Emma L., Elkin, A, Katrina Pirlo (14918094), Gaysina, D., Cerisse Gunasinghe, Korszun, A, Farmer, A.E., McGuffin, Peter, Korszun, Ania, Jones, Lisa, Leonard C Schalkwyk (8412954), Cohen-Woods, S, McGuffin, Peter W, Meaburn, E, Darya Gaysina (4464832), Schalkwyk, Leonard C, Cohen-Woods, S., Gunasinghe Cerisse, Jones, L., Gunasinghe, Cerisse; id_orcid, Meaburn, Emma   +90 more
core   +1 more source

A Rare Allele of ST5 From Wild Rice Enhances Salt Tolerance in Rice

Advanced Science, EarlyView.
A novel salt‐tolerance gene ST5W, characterized by a unique 36‐bp promoter insertion, is found exclusively in a small subset of Oryza rufipogon and is absent in cultivated rice. Field trials confirm ST5W significantly enhances rice yield across diverse genetic backgrounds under saline conditions.
Meng Xing, Jingfen Huang, Qiaoling Yuan, Ziyi Yang, Yanyan Wang, Mingchao Zhao, Yamin Nie, Rui Xu, Hongge Qian, Wenxi Chen, Qiaoling Zhang, Qi Du, Leiyue Geng, Yapeng Li, Ziyi Chen, Shizhuang Wang, Like Lou, Haiyuan Peng, Chongke Zheng, Xianzhi Xie, Xiaoming Zheng, Lifang Zhang, Lianguang Shang, Jiaqiang Sun, Qian Qian, Qingwen Yang, Weihua Qiao   +26 more
wiley   +1 more source

Replication of a genome-wide association study on essential hypertension in Mongolians

Clinical and Experimental Hypertension, 2018
Replication of genome-wide significant association SNPs in independent populations is an essential approach for identifying gene–disease relationships.
Hongmei Li, Tong Wu, Shaoqing Wang, Xueyan Li, Yongqiang Qiu, Chunrong Lin, Changchun Qiu, Zhihui Deng, Li Zhou, Xiaojie Zhang   +9 more
doaj   +1 more source