Results 41 to 50 of about 2,418 (178)

DIAGNOSTIC PROBLEMS OF MUCOVISCIDOSIS AND WAYS OF SOLUTION IN RUSSIA

Педиатрическая фармакология, 2014
Mucoviscidosis is a monogenic autosomal recessive caused by the CFTR gene mutations and characterized by pronounced genetic heterogeneity and clinical polymorphism, which emphasizes the need in comprehensive diagnosis and molecular-genetic verification ...
A. A. Baranov, N. I. Kapranov, N. Yu. Kashirskaya, L. S. Namazova-Baranova, V. D. Sherman, O. I. Simonova, A. Yu. Tomilova, K. V. Sevost'yanov, A. M. Pushkov, A. L. Vladykin, N. V. Shatokhin   +10 more
doaj   +1 more source

RNA binding proteins PTBP1 and HNRNPL regulate CFTR mRNA decay

Heliyon, 2023
Background: CFTR nonsense alleles generate negligible CFTR protein due to the nonsense mutation: 1) triggering CFTR mRNA degradation by nonsense-mediated mRNA decay (NMD), and 2) terminating CFTR mRNA translation prematurely.
Amna Siddiqui, Arpit Saxena, Joshua Echols, Viktoria Havasi, Lianwu Fu, Kim M. Keeling   +5 more
doaj   +1 more source

MASH Background Confers Enhanced Disease Susceptibility and Acetaminophen Toxicity in iPSC‐Derived Liver Organoids

Advanced Science, EarlyView.
This work establishes a novel method for generating multicellular liver organoids from control and MASH donor iPSCs. The model recapitulates several disease‐specific characteristics, with MASH donor‐derived organoids showing higher susceptibility. Lipidomic profiling of MASH organoids closely resembles MASH liver biopsies.
Ekta Minocha, Ashwani Kumar Gupta, Nate Schmidt, Richard M. Green, John G. Purdy, Jason A. Wertheim   +5 more
wiley   +1 more source

Therapeutic Gene Editing of APOE4 in Sporadic Alzheimer's Disease via Prime Editor 7

Advanced Science, EarlyView.
Prime Editor 7‐mediated conversion of APOE4 to APOE3 alleviates Alzheimer's disease‐associated pathology in AD mouse models and patient‐derived neurons and improves cognitive performance in vivo, supporting therapeutic genome editing as a promising strategy for APOE4‐associated neurodegeneration.
Yunkyung Kim, Gaeun Lee, Saemin An, Hanseul Park, Hongwon Kim, Jisung Kim, Soi Kang, Sumin Kim, Daeyeol Kwon, Jeonghyun Park, Yerim Hwang, Seonghun Kim, Xiuwen Yuan, Jaehoon Jeong, Hamin Lee, Hui Kwon Kim, Jongpil Kim   +16 more
wiley   +1 more source

CFTR Modulation Reduces SARS-CoV-2 Infection in Human Bronchial Epithelial Cells

Cells, 2022
People with cystic fibrosis should be considered at increased risk of developing severe symptoms of COVID-19. Strikingly, a broad array of evidence shows reduced spread of SARS-CoV-2 in these subjects, suggesting a potential role for CFTR in the ...
Virginia Lotti, Flavia Merigo, Anna Lagni, Andrea Di Clemente, Marco Ligozzi, Paolo Bernardi, Giada Rossini, Ercole Concia, Roberto Plebani, Mario Romano, Andrea Sbarbati, Claudio Sorio, Davide Gibellini   +12 more
doaj   +1 more source

Trafficking Deficiency of TMEM175 Variants in Parkinson's Disease Pathogenesis and the Prospects of Precision Medicine

Advanced Science, EarlyView.
This study identifies that the PD‐associated TMEM175‐L156P variant disrupts lysosomal ion channel trafficking by causing aberrant endoplasmic reticulum retention. A “chaperone–agonist” bifunctional small molecule restores TMEM175‐L156P lysosomal localization and channel function, thereby alleviating PD‐relevant cellular phenotypes and highlighting a ...
Ting Luo, Yu He, Shuyao Li, Haoyu Guan, Ruili Cui, Yu Shi, Zhongwen Jiang, Siyu Wang, Xuan Li, Jiyuan Li, Mei Hu, Yupeng Zhou, Beisha Tang, Yanyan Zhang, Zhaobing Gao, Yu Zhou, Zhenhua Liu, Ping Li   +17 more
wiley   +1 more source

TAB2 Causes Neuronal Damage by Aggravating Microglia‐Mediated Neuroinflammation in Parkinson's Disease

Advanced Science, EarlyView.
In microglia, STAT3 upregulates TAB2, which promotes NF‐κB activation through its NZF domain‐mediated recognition of K63‐linked ubiquitin chains, leading to inflammatory cytokine release and subsequent neuronal injury. Lumacaftor suppresses TAB2 expression and directly binds the TAB2‐NZF domain to interrupt K63 ubiquitin recognition, thereby blocking ...
Yanhao Zhao, Zimeng Huang, Jianing Gao, Aolan Li, Huizhi Wang, Yingchuan Chen, Guanyu Zhu, Xin Zhang, Yin Jiang, Moxuan Zhang, Fangang Meng, Jianguo Zhang, Tingting Du   +12 more
wiley   +1 more source

Antibodies for CFTR studies [PDF]

Journal of Cystic Fibrosis, 2004
For most expression studies focusing on the Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) protein, sensitive and specific antibodies (Abs) are critically needed. Several Abs have been produced commercially or by research laboratories for CFTR detection in both cell lines with heterologous or endogenous expression and native cells/tissues ...
Mendes, Filipa, Farinha, Carlos, Roxo-Rosa, Mónica, Fanen, Pascale, Edelman, Aleksander, Dormer, Robert, Mcpherson, Margaret, Davidson, Heather, Puchelle, Edith, de Jonge, Hugo, Heda, Ghanshyam, Gentzsch, Martina, Lukacs, Gergely, Penque, Deborah, Amaral, Margarida   +14 more
openaire   +4 more sources

Genetic aspects of digestive diseases. Part 1

Терапевтический архив, 2010
The paper presents the data available in the literature on mutations in known genes in pancreatitis, such as cationic trypsinogen (PRSS1), pancreatic secretory trypsin inhibitor (PSTI/SPINK1), cystic fibrosis (CFTR), and apolipoprotein E (APOE) genes, as
Irina Nikolaevna Grigor'eva, Tat'yana Mikhaylovna Nikitenko, Aleksandr Vilenovich Tikhonov, Tat'yana Ivanovna Romanova, V N Maksimov, Elena Vladimirovna Shakhtshneyder, Sof'ya Konstantinovna Malyutina, Mikhail Ivanovich Voevoda, I N Grigoryeva, T M Nikitenko, A V Tikhonov, T I Romanova, V N Maksimov, E V Shakhtshneider, S K Malyutina, M I Voyevoda   +15 more
doaj  

The Spectrum and Frequency of Cystic Fibrosis Mutations in Albanian Patients

Balkan Journal of Medical Genetics
Cystic fibrosis (CF) is a genetic disease characterized by a wide spectrum of severity, resulting from the inheritance of a mutant allele of the gene for cystic fibrosis transmembrane conductance regulator (CFTR).
Kasmi I, Kasmi G, Basholli B, Sefa HS, Vevecka E   +4 more
doaj   +1 more source