Results 101 to 110 of about 15,103 (215)

Exome sequencing identifies novel and known mutations in families with intellectual disability

BMC Medical Genomics, 2021
Background Intellectual disability (ID) is a phenotypically and genetically heterogeneous disorder. Methods In this study, genome wide SNP microarray and whole exome sequencing are used for the variant identification in eight Pakistani families with ID ...
Memoona Rasheed, Valeed Khan, Ricardo Harripaul, Maimoona Siddiqui, Madiha Amin Malik, Zahid Ullah, Muhammad Zahid, John B. Vincent, Muhammad Ansar   +8 more
doaj   +1 more source

Optimal energy management of water networks under quality conditions

International Transactions in Operational Research, Volume 33, Issue 2, Page 926-951, March 2026.
Abstract In the context of sustainability, which has become fundamental today, we aim to optimize (reduce) the energy consumption due to the use of pumps that bring water from all the different reservoirs to the nodes of the distribution network. The proposed model allows us, thanks to the use of smart meters and new 5G technologies, to determine the ...
Gabriella Colajanni, Daniele Sciacca, Letizia Paone   +2 more
wiley   +1 more source

A novel therapeutic strategy for pancreatic neoplasia using a novel RNAi platform targeting PDX-1 [PDF]

, 2011
Bi-functional shRNA (bi-shRNA), a novel RNA interference (RNAi) effector platform targeting PDX-1 utilizing a systemic DOTAP-Cholesterol delivery vehicle, was studied in three mouse models of progressive pancreatic neoplasia.
Charles Brunicardi, David Dawson, Donald Rao, Francesco DeMayo, John Nemunaitis, Kelly Stehling, Marie-Claude Gingras, Michael Norman, Nancy Templeton, Neil Senzer, Richard Gibbs, Shi-He Liu, William Fisher, Zhaohui Wang   +13 more
core   +1 more source

NADH‐Reductive Stress Induced by Dihydrolipoamide Dehydrogenase Activation Contributes to Cuproptosis

Advanced Science, Volume 13, Issue 9, 13 February 2026.
This study demonstrates a cuproptosis mechanism involving nicotinamide adenine dinucleotide (NADH)‐reductive stress in neural cells. Copper activates dihydrolipoamide dehydrogenase under mitochondrial pH, accumulating NADH. Copper also induces mitochondrial permeability transition pore opening, facilitating NADH translocation to the cytosol and ...
Si‐Yi Zhang, Xing‐Hua Ren, Cheng‐Hong Zhang, Zhan‐You Wang   +3 more
wiley   +1 more source

Overlapping phenotype of GNE myopathy and dystrophinopathy: a rare case with dual variants from India

Journal of Rare Diseases
Purpose Distal myopathies are rare neuromuscular disorders, among which GNE myopathay (also known as Nonaka myopathy) results from autosomal recessive mutations in the GNE [glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase] gene, while ...
Tamali Halder, Deepika Joshi, Parimal Das   +2 more
doaj   +1 more source

Establishment and Characterization of MCA23, a Novel Mouse Intrahepatic Cholangiocarcinoma Cell Line

Cancer Medicine, Volume 15, Issue 2, February 2026.
ABSTRACT Introduction Intrahepatic cholangiocarcinoma (ICC) is an aggressive type of malignancy. Recent advancements have highlighted the importance of the tumor immune microenvironment in therapeutic responses and prognosis. However, the lack of a mouse‐derived ICC cell line and current mouse models limit explorations of the TME in ICC.
Yuchao He, Yi Luo, Liwei Chen, Yu Wang, Bei Liu, Mengting Sun, Wenchen Gong, Xiangdong Tian, Lin Guo, Qin Zhang, Qiang Wu, Lu Chen, Hua Guo   +12 more
wiley   +1 more source

Fighting the Cause of Alzheimer’s and GNE Myopathy

Frontiers in Neuroscience, 2018
Age is the common risk factor for both neurodegenerative and neuromuscular diseases. Alzheimer disease (AD), a neurodegenerative disorder, causes dementia with age progression while GNE myopathy (GNEM), a neuromuscular disorder, causes muscle ...
Shreedarshanee Devi, Rashmi Yadav, Pratibha Chanana, Ranjana Arya   +3 more
doaj   +1 more source

Lactylation in colorectal cancer: Unveiling novel mechanisms in metabolism, progression and therapeutic targeting

Clinical and Translational Medicine, Volume 16, Issue 2, February 2026.
Lactate accumulation links metabolic reprogramming to epigenetic regulation via protein lactylation. Lactylation drives colorectal cancer proliferation, metastasis, immune escape and chemoresistance. Microbiota‐derived lactate shapes a tumour‐specific lactylation landscape in colorectal cancer.
Ming Liu, Weiwei Li, Yi Ji, Yanqing Chen, Guoli Wei, Jiege Huo, Tao Gui   +6 more
wiley   +1 more source

Mining for novel candidate clock genes in the circadian regulatory network [PDF]

, 2015
Background Most physiological processes in mammals are temporally regulated by means of a master circadian clock in the brain and peripheral oscillators in most other tissues. A transcriptional-translation feedback network of clock genes produces near 24
Ananthasubramaniam, Bharath, Bhargava, Anuprabha, Herzel, Hanspeter   +2 more
core   +1 more source

Molecular diagnosis of hereditary inclusion body myopathy by linkage analysis and identification of a novel splice site mutation in GNE

BMC Medical Genetics, 2011
Background Many myopathies share clinical features in common, and diagnosis often requires genetic testing. We ascertained a family in which five siblings presented with distal muscle weakness of unknown etiology.
Mahoney Lane J, Lidov Hart GW, Estrella Elicia A, Duncan Anna R, Boyden Steven E, Katz Jonathan S, Kunkel Louis M, Kang Peter B   +7 more
doaj   +1 more source