Results 131 to 140 of about 15,296 (267)

Severe epilepsy in X-linked creatine transporter defect (CRTR-D)

, 2007
Disorders of creatine synthesis or its transporter resulting in neurological impairment with mental retardation and epilepsy have only been recognized in recent years.
JAKOBS C, ZARA F, GAGGERO R., BAGLIETTO, MARIA GIUSEPPINA, CARUSO U, SCHIAFFINO MC, VENESELLI, EDVIGE MARIA, MANCARDI MM, ROSSI A, BATTAGLIA FM, SALOMONS GS   +10 more
core  

Supranormal myocardial creatine and phosphocreatine concentrations lead to cardiac hypertrophy and heart failure: insights from creatine transporter-overexpressing transgenic mice.

, 2005
BACKGROUND: Heart failure is associated with deranged cardiac energy metabolism, including reductions of creatine and phosphocreatine. Interventions that increase myocardial high-energy phosphate stores have been proposed as a strategy for treatment of ...
ten Hove, Michiel, Schneider, JE, Sebag-Montefiore, L, Lygate, Craig, Neubauer, Stefan, Wallis, Julie, Zhang, Mei Hua, Fischer, Alexandra, Watkins, Hugh, Watkins, H, Hulbert, K, Schneider, Juergen, Fischer, A, Sebag-Montefiore, Liam, Lygate, CA, Dawson, Dana, Zhang, Wen, Zhang, MH, Zhang, W, Dawson, D, Schneider, Jürgen E., Neubauer, S, Lygate, Craig A., Hulbert, Karen, Clarke, Kieran, Clarke, K, Wallis, J, ten Hove, M   +27 more
core   +1 more source

Proteomic and metabolic signatures of female reproductive factors and risk of age‐related ocular diseases: A large prospective cohort study

VIEW, EarlyView.
The full editable vector source file of this graphical abstract is uploaded as a supplementary EPS file for typesetting. All elements are copyright‐free. Abstract Age‐related ocular diseases (ARODs), including cataract, primary open‐angle glaucoma (POAG), and age‐related macular degeneration (AMD), are leading causes of vision impairment and exhibit ...
Linge Jian, Zhiqian Huang, Keke Zhang, Jing Lin, Jia You, Yi Lu, Xiangjia Zhu   +6 more
wiley   +1 more source

Corrigendum to "Elevated amyloid beta peptides and total tau in cerebrospinal fluid in individuals with Creatine transporter deficiency". [PDF]

Mol Genet Metab Rep, 2023
Rahhal S, Farmer C, Thurm A, Wassif CA, Cawley NX, Perreault J, Dang Do A, Bianconi S, Hannah-Shmouni F, Guthrie W, Cubit LS, Miller JS, Sutton VR, Koeberl D, Porter FD.   +14 more
europepmc   +1 more source

Electrophysiological characterisation of the human creatine transporter 1

, 2023
Kreatin ist ein bedeutsamer Pufferspeicher für ATP, welcher ständig spontan zerfällt. Dieser Zerfall wird in Neuronen und Muskelzellen großteils durch die Aufnahme von Kreatin mittels des Kreatin-Transporters kompensiert.
Farr, Clemens Valentin
core  

Data privacy model using blockchain reinforcement federated learning approach for scalable internet of medical things

CAAI Transactions on Intelligence Technology, EarlyView.
Abstract Internet of Medical Things (IoMT) has typical advancements in the healthcare sector with rapid potential proof for decentralised communication systems that have been applied for collecting and monitoring COVID‐19 patient data. Machine Learning algorithms typically use the risk score of each patient based on risk factors, which could help ...
Chandramohan Dhasaratha, Mohammad Kamrul Hasan, Shayla Islam, Shailesh Khapre, Salwani Abdullah, Taher M. Ghazal, Ahmed Ibrahim Alzahrani, Nasser Alalwan, Nguyen Vo, Md Akhtaruzzaman   +9 more
wiley   +1 more source

Elevated amyloid beta peptides and total tau in cerebrospinal fluid in individuals with Creatine transporter deficiency. [PDF]

Mol Genet Metab Rep, 2023
Rahhal S, Farmer C, Thurm A, Wassif CA, Cawley NX, Perreault J, Dang Do A, Bianconi S, Hannah-Shmouni F, Guthrie W, Cubit LS, Miller JS, Sutton VR, Koeberl D, Porter FD.   +14 more
europepmc   +1 more source

Creatine transporter deficiency: molecular and functional tools for diagnosis, and prevalence of this X-linked mental retardation syndrome [PDF]

, 2006
Van de verstandelijk gehandicapten is tweederde man. Lang niet altijd wordt voor de handicap een oorzaak gevonden. Uit het promotieonderzoek van Efraim Rosenberg blijkt in één procent van de gevallen een fout in het creatine transporter gen (SLC6A8 ...
Rosenberg, E.H.
core  

Update on Non‐Biological and RNA‐Based Therapeutics in Chronic Inflammatory Diseases: Precision Medicine Through Small Molecules: An EAACI Position Paper

Allergy, EarlyView.
ABSTRACT In the last decades, critical advancements in research technology and knowledge on disease mechanisms steered therapeutic approaches for chronic inflammatory diseases towards unprecedented target specificity. For allergic and chronic lung diseases, biologic drugs pioneered this goal, acquiring on the way—through the clinical use of monoclonal ...
F. Roth‐Walter, I. M. Adcock, C. Benito‐Villalvilla, R. Bianchini, L. Bjermer, G. Caramori, L. Cari, K. F. Chung, Z. Diamant, I. Eguiluz‐Gracia, E. F. Knol, M. Jesenak, F. Levi‐Schaffer, G. Nocentini, L. O'Mahony, O. Palomares, F. Redegeld, M. Sokolowska, B. Van Esch, M. Zurlo, C. Stellato   +20 more
wiley   +1 more source

Microfluidic Intracytoplasmic Sperm Injection (MICSI): A Novel Platform for Sperm Isolation, Selection, and Injection Into Oocytes

Andrology, EarlyView.
ABSTRACT Background Infertility is a pressing global health concern, affecting one in six couples worldwide. The failure rate for assisted reproductive technologies (ART) cycles remains at approximately 78%, with limited improvements often attributed to a lack of technological innovation.
Mehran Dabiri, Dale Mark Goss, Steven Alexander Vasilescu, Majid Ebrahimi Warkiani   +3 more
wiley   +1 more source