Results 131 to 140 of about 263,382 (282)

Aniridia‐associated keratopathy: Clinical and molecular mechanisms of disease progression and emerging therapeutic targets

Acta Ophthalmologica, EarlyView.
Abstract Congenital aniridia is a rare genetic disorder primarily caused by pathogenic variants of the PAX6 gene. It leads to various panocular anomalies, including aniridia‐associated keratopathy (AAK). This review highlights recent insights into its pathogenesis, focusing on clinical staging, microstructural changes in the cornea and molecular ...
N. Szentmáry, S. Suiwal, M. Amini, F. N. Fries, A. Náray, L. Latta, Z. Li, S. Li, S. Liu, S. L. Hsu, S. Kundu, G. Tóth, S. Trusen, J. Zimmermann, B. Seitz, B. Käsmann‐Kellner, Z. Hoxha, A. Langenbucher, O. Stachs, M. Cortón‐Perez, K. Tory, A. Csorba, Z. Z. Nagy, M. C. Acosta, J. Gallar, M. Csidey, E. Maka, T. Stachon   +27 more
wiley   +1 more source

Executive functions and school achievement: The mediating role of learning‐related behaviour in primary school children

British Journal of Educational Psychology, EarlyView.
Abstract Background Executive functions (EFs) are critical in school and closely linked to academic achievement and learning‐related behaviours (LRBs). LRBs encompass the ability to adapt to school demands, including concentration, adherence to rules, and autonomy.
Carlotta Rivella, Paola Viterbori
wiley   +1 more source

Vesicular glutamate transporter VGLUT2 expression emerges in substantia nigra dopamine neurons in mouse models of parkinsonism in the absence of neurodegeneration

British Journal of Pharmacology, EarlyView.
Abstract Background and Purpose Subsets of midbrain dopamine (DA) neurons express the vesicular glutamate transporter VGLUT2 and can release the excitatory neurotransmitter glutamate. VGLUT2+ DA neurons of the substantia nigra pars compacta (SNc) were shown to be more resistant to neurodegeneration in animal models of Parkinson's disease (PD ...
Sivakumar Srinivasan, Christian Pifl, Thomas Steinkellner   +2 more
wiley   +1 more source

A PK/PD study on antihyperalgesia by an α2/3‐GABAA receptor PAM in mice: Lack of tolerance liability and potential involvement of γ1‐GABAA receptors

British Journal of Pharmacology, EarlyView.
Abstract Background and Purpose GABAA receptors (GABAARs) are heteropentameric ion channels that control almost all CNS functions, including spinal nociception. Most GABAARs contain a γ2 subunit but differ in their α and β subunit composition. TPA023B is an α2/α3 subtype selective, non‐sedative, positive allosteric modulator (PAM) with antihyperalgesic
Elena Neumann, Mariana O. Popa, Karen T. Elvers, Misa Oyama, Daniel Ulrich, Marcus Hanley, Gui Jie Feng, Thomas Hathaway, William T. Ralvenius, Thomas Grampp, Dietmar Benke, John R. Atack, Hanns Ulrich Zeilhofer   +12 more
wiley   +1 more source

Multiplexed Transcriptomics for Screening Drug Combinations and Defining the Mechanism of Action of HCC Therapeutics at Single‐Cell Resolution

Cell Proliferation, EarlyView.
We designed a framework for screening clinical drug combinations with anti‐hepatocellular carcinoma (HCC) activity, comprising four parts: primary screening, single‐cell screening, functional validation, and mechanism research. High‐throughput single‐cell screening identifies HY (HHT and YM155) as a potent anti‐HCC drug combination, validated by in ...
Mengmeng Jiang, Haide Chen, Guoxia Wen, Yuqing Mei, Wenzhao Zhou, Bin Xu, Tingyue Zhang, Guangyan Li, Junqing Wu, Xiaoping Han, Xudong Fu, Guoji Guo, Jingjing Wang   +12 more
wiley   +1 more source

Analysis of Human Uniparental Embryonic Stem Cells Reveals New Putative Imprinted Loci

Cell Proliferation, EarlyView.
To identify novel imprinted genes, parthenogenetic, androgenetic and biparental human embryonic stem cells and their differentiated neural progenitors were analysed by methylome and transcriptome profiling. This approach uncovered 12 putative novel imprinted genes, including a clustered region on chromosome 19, expanding the current catalogue of ...
Shay Kinreich, Nissim Benvenisty
wiley   +1 more source

CPM 2006

Journal of Discrete Algorithms, 2011
Lewenstein, M., Valiente, G.
openaire   +1 more source

Whole Blood Transcriptomic Analysis of Sickle Cell Trait

European Journal of Haematology, EarlyView.
ABSTRACT Sickle cell trait (SCT) is the heterozygous carrier state for the HBB missense variant which causes sickle cell disease (SCD). SCT has been associated with increased risk of venous thromboembolism and chronic kidney disease as well as alterations in clinical laboratory parameters. To investigate differential gene expression in SCT, we used RNA
Mari Johnson, Yanwei Cai, Ana Gabriela Vasconcelos, Peter Orchard, Paul L. Auer, Guillaume Lettre, Jia Wen, Nora Franceschini, Charles Kooperberg, Wei Sun, Li Hsu, Laura M. Raffield, Alex P. Reiner   +12 more
wiley   +1 more source

P-033: CLINICAL AND HEMATOLOGICAL FOLLOW UP OF SICKLE CELL DISEASE PATIENTS IN A REMOTE CITY IN A COUNTRY WITH LIMITED RESOURCES

HemaSphere, 2022
MBIYA-MUKINAYI B., KALOMBO-KALENDA D., MUKENDI-NKESU Y., DAUBIE V., KALENDA-MPOYI J., BIBOYI-MUKENDI P., DISASHI-TUMBA G., GULBIS B.   +7 more
doaj   +1 more source

Transcriptional regulation of human NMNAT2: insights from 3D genome sequencing and bioinformatics

The FEBS Journal, EarlyView.
NMNAT2 is a valuable drug target, as low levels increase the risk of neurodegeneration. We employed 4C‐seq to identify NMNAT2 regulatory regions in the human genome, revealing distinct interactomes of the NMNAT2 promoter in undifferentiated and neuron‐like SH‐SY5Y cells. Additionally, we uncovered NMNAT2‐associated genes and transcription factors. This
Yu Chen Chang, Sen Yang, Minyoung Cho, Kwangsik Nho, José‐Manuel Baizabal, Hui‐Chen Lu   +5 more
wiley   +1 more source