Results 31 to 40 of about 4,501 (218)

TNF-α mediated secretory component is positively regulated by PI3K/AKT/mTOR in Caco-2 cells [PDF]

Journal of Medical Biochemistry, 2013
Background: Secretory component (SC) is the extracellular component of the polymeric immunoglobulin receptor (pIgR) that functions as a receptor for externally secreted polymeric immunoglobulins such as secretory IgA.
Liu Dongyan, Wang Si, Jiang Teng, Ding Peng   +3 more
doaj  

Cognitive and Neuroimaging Divergence Between Juvenile and Adult FUS Amyotrophic Lateral Sclerosis

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disorder characterized by progressive motor neuron degeneration. Fused in sarcoma (FUS)‐associated juvenile ALS (jALS) represents a distinct and aggressive subgroup with rapid deterioration and poor prognosis.
Alexandra V. Jürs, Marcel Naumann, Annaliis Lehto, Hanna Schön, Jens Kurth, Johannes Prudlo, Andreas Hermann, Elisabeth Kasper   +7 more
wiley   +1 more source

Intra-mitochondrial glycolysis maintains mitochondrial function and underlies the pathogenesis of retinitis pigmentosa

Nature Communications
Glycolysis is classically defined as a cytoplasmic process. Here, in our investigation of mitochondrial dysfunction in Retinitis Pigmentosa (RP), we report the unexpected discovery of a complete and functional glycolytic pathway operating inside ...
Linghui Kong, Jiajian Liang, Dan Liu, Shanshan Jia, Hui Gu, Yiwen He, Wenting Luo, Songying Cao, Yizhang Dong, Chao Yang, Minghui Liao, Guojia Wan, Bo Du, Dongxue Ding, Wei Ma, Xiaowei Wei, Anhua Wu, Zhengwei Yuan   +17 more
doaj   +1 more source

RARE CONGENITAL MALFORMATIONS. [PDF]

The Lancet, 1897
n ...
openaire   +1 more source

Re‐Purposing Sapropterin (Kuvan) for ACTA2‐Related Multisystemic Smooth Muscle Dysfunction Syndrome: A Translational Mechanistic and First‐In‐Human Therapeutic Report

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Multisystemic smooth muscle dysfunction syndrome (MSMDS) is an ultra‐rare, ACTA2‐related disorder characterized by severe cerebrovascular disease, aortic aneurysms, and smooth muscle dysfunction. Using molecular dynamics simulations and in silico drug screening, we identified that sapropterin dihydrochloride (Kuvan) is a candidate capable of ...
Moran Hausman‐Kedem, Noa Bielopolski, Vijai Krishnan, Shane Wald‐Altman, Shelly I Shrian, Omer Bar‐Yosef, Livia Kapusta, Claire Shamber, Patricia L. Musolino, Miguel Weil   +9 more
wiley   +1 more source

Advancements in Pathogenic Genes and Biomarkers for Non-syndromic Cleft Lip With or Without Cleft Palate Via Multiomics

International Dental Journal
Non-syndromic cleft lip with or without cleft palate (nsCL/P) is a common congenital malformation influenced by a combination of environmental and genetic factors.
Chunqing Yang, Ling Ding, Yizhang Dong, Yu Wang, Songying Cao, Zhengwei Yuan, Shanshan Jia   +6 more
doaj   +1 more source

Anesthetic considerations in patients with cystic pulmonary adenomatoid malformations

Journal of Anaesthesiology Clinical Pharmacology, 2021
Congenital pulmonary adenomatoid malformation (CPAM) is a rare entity. The authors searched the US National Library of Medicine Database, EMBASE, Google Scholar, PubMed Central for anesthetic management in CPAM.
Bhavna Gupta, Kapil Chaudhary, Nitin Hayaran, Sujoy Neogi   +3 more
doaj   +1 more source

Neurological, Neurodevelopmental and Treatment Outcomes in Patients With Pyruvate Dehydrogenase Complex Deficiency

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective The aim of this study was to characterize intellectual and motor function, neurological features including epilepsy, treatment response, and adaptive behavior in patients with pyruvate dehydrogenase complex deficiency (PDCD) in Sweden.
Antri Savvidou, Colin Reilly, Kalliopi Sofou, Sofia Ygberg, Erik A. Eklund, Karin Naess, Niklas Darin   +6 more
wiley   +1 more source

Congenital Eyelid Anomalies: What General Physicians Need To Know

Oman Medical Journal, 2021
The eyelids are important structures that maintain the health of the ocular surface and have an important role in facial esthetics. Any interruption in eyelid development can lead to congenital eyelid deformities.
Abdullah Al-Mujaini, Majda AL Yahyai, Anuradha Ganesh   +2 more
doaj   +1 more source

The Lupus Damage Index Revision Program: Results From the Item Generation and Reduction Phases

Arthritis Care &Research, EarlyView.
Objective A data‐driven and expert/patient consensus‐based project to develop a revised Systemic Lupus International Collaborating Clinics (SLICC)/American College of Rheumatology (ACR) Damage Index (SDI) is under way supported by SLICC, ACR, and the Lupus Foundation of America. Our objective is to report the item generation and reduction phase results
Burak Kundakci, Megan R. W. Barber, Ann E. Clarke, Sindhu R. Johnson, Anselm Mak, Hermine I. Brunner, Murat Inanc, Rosalind Ramsey‐Goldman, Guillermo Ruiz‐Irastorza, Ellen M. Ginzler, John G. Hanly, Alexandra Legge, Cynthia Aranow, Laurent Arnaud, Nathalie Costedoat‐Chalumeau, Dafna D. Gladman, Søren Jacobsen, Michelle Petri, Clovis A. Silva, Évelyne Vinet, Alexandre E. Voskuyl, SDI Revision Literature Review Groups, SDI Revision Delphi Panel, SDI Revision Item Reduction Committee, SDI Revision Clinical Domain Groups, Ian N. Bruce   +25 more
wiley   +1 more source