Results 141 to 150 of about 892,276 (310)

Fetal and obstetrics manifestations of mitochondrial diseases

Journal of Translational Medicine
During embryonic and neonatal development, mitochondria have essential effects on metabolic and energetic regulation, shaping cell fate decisions and leading to significant short- and long-term effects on embryonic and offspring health.
Alessia Adelizzi, Anastasia Giri, Alessia Di Donfrancesco, Simona Boito, Alessandro Prigione, Emanuela Bottani, Valentina Bollati, Valeria Tiranti, Nicola Persico, Dario Brunetti   +9 more
doaj   +1 more source

Aquaporin‐3 and aquaporin‐5 impact the development of pancreatic ductal adenocarcinoma spheroids

FEBS Open Bio, EarlyView.
Schematic representation of the role of aquaporin‐3 (AQP3) and aquaporin‐5 (AQP5) in pancreatic ductal adenocarcinoma (PDAC). Both proteins are upregulated in PDAC and are associated with tumor progression and metastatic potential. Silencing AQP3 or AQP5 in PDAC spheroids results in decreased diameter, area, and overall growth, underscoring their key ...
Catarina Pimpão, Diogo M. Engrácia, Graça Soveral, Filipa Mendes   +3 more
wiley   +1 more source

Inhibition of autophagy limits vertical transmission of Zika virus in pregnant mice [PDF]

, 2017
Aagaard, Barrows, Bayer, Bin Cao, Cadwell, Cao, Cao, Cao-Lormeau, Cemma, Chibueze, Chiramel, Delorme-Axford, Delvecchio, El Costa, Elfiky, Eyer, Farias, Hamel, Indira U. Mysorekar, Jurado, Kaplan, Khan, Klionsky, Lamont, Lennemann, Levine, Liang, Lindsay A. Parnell, Martín-Acebes, Mateo, Michael S. Diamond, Miner, Mysorekar, Pirooz, Quicke, Rosenfeldt, Rossant, Sacramento, Savarino, Sharma, Shoji-Kawata, Signorelli, Tabata, Tricou, Vandergaast, Vermillion, Wenzel, Xu, Yockey, Zmurko   +49 more
core   +2 more sources

Cutaneous Melanoma Drives Metabolic Changes in the Aged Bone Marrow Immune Microenvironment

Aging and Cancer, EarlyView.
Melanoma, the deadliest form of skin cancer, increasingly affects older adults. Our study reveals that melanoma induces changes in iron and lipid levels in the bone marrow, impacting immune cell populations and increasing susceptibility to ferroptosis.
Alexis E. Carey, Murilo Ramos Rocha, Cheyenne Palm, Vania Wang, Denys Balandin, Ethan Black, Kevin Y. Zhang, Fan Huang, Daniel J. Zabransky, Yash Chhabra, Mareike Peters, Gabriel Ghiaur, Ashani Weeraratna   +12 more
wiley   +1 more source

Developmental and Epileptic Encephalopathy due to Biallelic Pathogenic Variants in PIGM

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective PIGM encodes a critical enzyme in the glycosylphosphatidylinositol (GPI)‐anchor biosynthesis pathway. While promoter‐region mutations in PIGM have been associated with a relatively mild phenotype characterized by portal vein thrombosis and absence seizures, recent evidence suggests that coding‐region mutations result in a more severe
Júlia Sala‐Coromina, Anna Marcé‐Grau, Barbara Masotto, Marta Codina, Lamia BenJemaa, Yasmina Elaribi, Mónica Martinez‐Gallo, Roger Colobran, Angel Sanchez‐Montañez, Irene Valenzuela, Yoshiko Murakami, Alfons Macaya   +11 more
wiley   +1 more source

Epilepsy‐Associated Variants of a Single SCN1A Codon Exhibit Divergent Functional Properties

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Pathogenic variants in SCN1A, which encodes the voltage‐gated sodium channel NaV1.1, are associated with multiple epilepsy syndromes exhibiting a range of clinical severity. SCN1A variants are reported in different syndromes, including Dravet syndrome, which is associated with loss‐of‐function, whereas neonatal/infantile‐onset ...
Lanie N. Liebovitz, Christopher H. Thompson, Linda C. Laux, Alfred L. George Jr.   +3 more
wiley   +1 more source

ALDOA Promotes Glycolysis and NLRP3/GSDMD Pyroptosis to Accelerate ALS Progression

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Amyotrophic lateral sclerosis (ALS) is characterized by progressive motor neuron degeneration. Glycolytic dysregulation is implicated in disease progression, yet the underlying mechanisms remain unclear. This study investigates how Aldolase A (ALDOA) drives ALS progression through glycolysis‐mediated motor neuron pyroptosis.
Kaixin Yan, Yan Jiang, Yuxuan Yong, Tianshuo Zhang, Niannian Zhang, Qianqian Zeng, Xue Gong, Li Meng, Fangfang Bi, Yongmin Liu   +9 more
wiley   +1 more source

Fetal Antecedents of Cardiovascular Disease [PDF]

Journal of the American Heart Association, 2018
openaire   +3 more sources

Early Clinical, Imaging, and Pathological Characteristics of SRPK3/TTN‐Digenic Myopathy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective SRPK3/TTN‐digenic myopathy was recently established as a skeletal muscle myopathy caused by digenic inheritance. This study characterizes the early clinical presentation of SRPK3/TTN‐digenic myopathy in one previously reported and seven newly identified pediatric patients.
Rotem Orbach, Sandra Donkervoort, Carola Hedberg‐Oldfors, Giovanni Baranello, Dimah Saade, Precilla D'Souza, Ruchee Patel, Eva Michael, A. Reghan Foley, Diana Bharucha‐Goebel, S. Jin Haugland, Meghan McAnally, Omer Abdul Hamid, Katherine Chao, Ellen F. Macnamara, Alan H. Beggs, Anna Sarkozy, Juliane Mueller, Steven A. Moore, Richard S. Finkel, Cynthia J. Tifft, Francesco Muntoni, Anders Oldfors, Carsten G. Bönnemann   +23 more
wiley   +1 more source

Fetal development of regulatory mechanisms for body fluid homeostasis

Brazilian Journal of Medical and Biological Research, 2008
The balance of body fluids is critical to health and the development of diseases. Although quite a few review papers have shown that several mechanisms, including hormonal and behavioral regulation, play an important role in body fluid homeostasis in ...
J. Guan, C. Mao, X. Feng, H. Zhang, F. Xu, C. Geng, L. Zhu, A. Wang, Z. Xu   +8 more
doaj