Results 31 to 40 of about 20,402 (244)

Perinatal Gene Transfer to the Liver

, 2011
The liver acts as a host to many functions hence raising the possibility that any one may be compromised by a single gene defect. Inherited or de novo mutations in these genes may result in relatively mild diseases or be so devastating that death within
Buckley, SM, Ward, N.J., Buckley, S.M.K., Ward, NJ, Chan, J.K.Y., Waddington, S.N., Rahim, A.A., Waddington, SN, Rahim, AA, Chan, JK, Mckay, T.R., Howe, S.J., Howe, SJ, McKay, TR   +13 more
core   +1 more source

Anaesthetic management of a patient with Pompe disease for kyphoscoliosis correction

Indian Journal of Anaesthesia, 2016
Pompe disease (PD) is a type II glycogen storage disease, characterised by abnormal glycogen deposition, mainly in heart and skeletal muscles, leading to progressive loss of muscle function.
Vaishali Kumbar, Jayashree Simha, Parameswara Gundappa   +2 more
doaj   +1 more source

Induced pluripotent stem cell for modeling Pompe disease

Frontiers in Cardiovascular Medicine, 2022
Pompe disease (PD) is a rare, autosomal recessive, inherited, and progressive metabolic disorder caused by α-glucosidase defect in lysosomes, resulting in abnormal glycogen accumulation.
Wenjun Huang, Yanmin Zhang, Yanmin Zhang, Rui Zhou   +3 more
doaj   +1 more source

Late-onset Pompe disease: what is the prevalence of limb-girdle muscular weakness presentation?

Arquivos de Neuro-Psiquiatria
Pompe disease is an inherited disease caused by acid alpha-glucosidase (GAA) deficiency. A single center observational study aimed at assessing the prevalence of late-onset Pompe disease in a high-risk Brazilian population, using the dried blood spot ...
Paulo José Lorenzoni, Cláudia Suemi Kamoi Kay, Nádia Sugano Higashi, Vânia D'Almeida, Lineu Cesar Werneck, Rosana Herminia Scola   +5 more
doaj   +1 more source

Late-onset Pompe disease in a patient with cerebellar hemorrhage [PDF]

Анналы клинической и экспериментальной неврологии
Pompe disease (glycogen storage disease type II) is a rare autosomal recessive multisystem disorder characterized by the deposition of glycogen in skeletal muscles and internal organs.
Vitalii V. Goldobin, Elena G. Klocheva, Tatyana G. Vstavskaya, Khosiddin F. Yuldashev, Alexandra D. Munasipova   +4 more
doaj   +1 more source

CCDC80 suppresses high‐grade serous ovarian cancer migration via negative regulation of B7‐H3

Molecular Oncology, EarlyView.
PAX8 is a lineage‐specific master regulator of transcription in high‐grade serous ovarian cancer (HGSC) progression. We show for the first time that PAX8 facilitates proliferation and metastasis by repressing the cell autonomous tumor suppressor CCDC80 and inducing B7‐H3 expression.
Aya Saleh, Nitzan Medina‐Itzhaki, Milena Chekov, Eden Gal‐Swisa, Roba Gabesh‐Wahabi, Inbar Savyon, Inna Naroditsky, Hilary A. Kenny, Basem Fares, Lina Korsensky, Einav Girsh, Liron Berger, Ruth Perets   +12 more
wiley   +1 more source

Mesenchymal Stromal Cell‐Mediated Intercellular Communication: Mapping the Interactome for Skeletal Muscle Homeostasis and Regeneration

Advanced Science, EarlyView.
Liu et al. define a systems‐level interactome of fibroadipogenic progenitor (FAP)‐mediated signaling in skeletal muscle by integrating single‐cell transcriptomics with FAP depletion‐based perturbation analysis. Functional interrogation using a conditioned media bioassay links predicted signaling to multicellular outcomes, establishing a framework to ...
Xingyu Liu, Edgar E. Perez Carbajal, Yih‐Chii Hwang, Sahil A. Mapkar, Benjamin W. Gilman, Sarah A. Bliss, Lam B. Tran, Kalgi T. Mehta, Jacob O. Banyasz, Ming Yu, Reynold R. Liu, Matthew N. Ly, Christapher S. Morrissey, Michael N. Wosczyna   +13 more
wiley   +1 more source

Genome‐Wide CRISPR Screen Identifies a microRNA Orchestrating Pleiotropic Resistance to Targeted Therapy and T Cell Immunity in Melanoma

Advanced Science, EarlyView.
A genome‐wide microRNA CRISPR screen identifies miR‐18a as a master regulator of cross‐resistance in melanoma. Loss of miR‐18a activates the AJUBA–YAP/Hippo axis to confer BRAFi resistance and enhances THBS1–CD47 interaction to impair CD8+ T cell immunity. hnRNP A1 is identified as an upstream regulator of miR‐18a processing.
Zhao Wang, Haotian Liu, Xueqi Wang, Jianjin Teng, Zihan Zheng, Jingya Zhang, Wanyi Xiao, Qian Liang, Jiaxin Li, Xiaomeng Jia, Xin Feng, Hongzhang Cui, Menghan Luo, Tielong Yang, Liuxing Wu, Ke Zhao, Weilong Yang, Mulin Jun Li, Dandan Huang, Jilong Yang   +19 more
wiley   +1 more source

Exercise testing in late-onset glycogen storage disease type II patients undergoing enzyme replacement therapy.

, 2012
Enzyme replacement therapy (ERT) has recently became available for patients with glycogen storage disease type II. Previous studies have demonstrated clinical efficacy of enzyme replacement therapy, however, data on physiological variables related to ...
Bellistri, Giuseppe, Marzorati M., Grassi B., Porcelli S., Porcelli, Simone, Marzorati, Mauro, Morandi L., G. Bellistri, GRASSI, Bruno, L. Morandi, B. Grassi, M. Marzorati, S. Porcelli, Bellistri G., Morandi, Lucia   +14 more
core   +1 more source

Optimized Ex Vivo Human Liver Slice Culture Maintains Extended Viability and Function for Hepatotoxicity Testing

Advanced Science, EarlyView.
An optimized ex vivo human liver slice culture system preserves tissue architecture, hepatocyte function, and immune‐stromal complexity for at least five days. By refining slice thickness, oxygenation, air‐liquid interface, and extracellular matrix support, the platform enables human‐relevant hepatotoxicity testing and mechanistic studies, offering a ...
Huiche Feng, Cinzia Esposito, Andrej Benjak, Matthias S. Matter, Miriam Cieri, Camilla De Carlo, Philipp Sedlaczek, Fabian Haak, Mattia Marinucci, Gabriel Fridolin Hess, Otto Kollmar, Mairene Coto‐Llerena, Luca Di Tommaso, Visar Vela, Lukas Bubendorf, Luigi M. Terracciano, Charlotte K. Y. Ng, Salvatore Piscuoglio   +17 more
wiley   +1 more source