Results 91 to 100 of about 12,282 (232)

Increased entropy of signal transduction in the cancer metastasis phenotype [PDF]

, 2010
Studies into the statistical properties of biological networks have led to important biological insights, such as the presence of hubs and hierarchical modularity. There is also a growing interest in studying the statistical properties of networks in the
A Barrat, A Naderi, A Ozgür, A Platzer, AA Samani, AE Teschendorff, AE Teschendorff, AE Teschendorff, AL Barabasi, Andrew E Teschendorff, B Derrida, C Sotiriou, D Pardoll, D Yee, DM Bates, DP Tuck, F Rapaport, H Jeong, H Yu, HY Chuang, I Ulitsky, IW Taylor, J Schäfer, JD Han, JD Storey, JJ Hornberg, K Chin, KR Brown, M Barthelemy, M Neuberg, M Schmidt, MA Pujana, P Farmer, PF Jonsson, RK Nibbe, S Loi, S Negrini, SF Chin, Simone Severini, SL Carter, TS Prasad, U Stelzl, Y Wang   +42 more
core   +5 more sources

ABCA12 Frameshift Deletion in Domestic Cats With Ichthyosis Fetalis

Veterinary Dermatology, EarlyView.
ABSTRACT Background Ichthyosis fetalis (IF), also known as harlequin ichthyosis, is a rare and often fatal autosomal recessive congenital skin disorder. It is characterized by thickened, hard skin plaques and deep skin fissures that limit mobility and cause malformations of the eyes, lips and ears.
Jeanna M. Blake, Melissa P. Swan, Kari J. Ekenstedt   +2 more
wiley   +1 more source

Insulin-like growth factor 2 overexpression induces β-Cell dysfunction and increases beta-cell susceptibility to damage [PDF]

, 2015
The human insulin-like growth factor 2 (IGF2) and insulin genes are located within the same genomic region. Although human genomic studies have demonstrated associations between diabetes and the insulin/IGF2 locus or the IGF2 mRNA-binding protein 2 ...
Agudo, Judith, Bosch i Tubert, Fàtima, Casaña Lorente, Estefania, Casellas, Alba, Garcia Martínez, Miquel, Haurigot Mendonça, Virginia, Jiménez Cenzano, Verónica, Mallol Dominguez, Cristina, Mercè Obach, Mercè, Molas, Maria, Morró Larrubia, Meritxell, Ricardo Lage, Ruberte París, Jesús, Salavert, Ariana, Vilà Prats, Laia   +14 more
core   +2 more sources

Search for cardiac calcium cycling gene mutations in familial ventricular arrhythmias resembling catecholaminergic polymorphic ventricular tachycardia

BMC Medical Genetics, 2009
Background Catecholaminergic polymorphic ventricular tachycardia (CPVT) is a severe inherited cardiac disorder caused by mutations predominantly in the ryanodine receptor (RyR2) gene.
Toivonen Lauri, Viitasalo Matti, Lahtinen Annukka M, Laitinen-Forsblom Päivi, Marjamaa Annukka, Kontula Kimmo, Swan Heikki   +6 more
doaj   +1 more source

Antioxidant supplementation blunts the proteome response to 3 weeks of sprint interval training preferentially in human type 2 muscle fibres

The Journal of Physiology, EarlyView.
Abstract figure legend Sprint interval training (SIT) is a popular time‐efficient type of endurance training. Healthy young men performed nine SIT sessions (4–6 × 30 s all‐out cycling sprints) over 3 weeks while being supplemented with antioxidants (high doses of vitamins C and E) or placebo. Muscle biopsies taken before and after the first SIT session
Victoria L. Wyckelsma, Marta Murgia, Sigitas Kamandulis, Stefano Gastaldello, Marius Brazaitis, Audrius Snieckus, Nerijus Eimantas, Mati Pääsuke, Sebastian Edman, William Apro, Daniel C. Andersson, Håkan Westerblad, Tomas Venckunas   +12 more
wiley   +1 more source

Low‐dose lithium supplementation promotes musculoskeletal and metabolic health in ovariectomized female mice

The Journal of Physiology, EarlyView.
Abstract figure legend Low‐dose lithium supplementation in ovariectomized mice enhances skeletal muscle contractility (isometric force and fatigue resistance), SERCA function and promotes favourable transcriptional reprogramming, while increasing bone density and modestly improving insulin sensitivity.
Bianca M. Marcella, Jessica L. Braun, Amélie A.T. Marais, Briana L. Hockey, Mia S. Geromella, Ryan W. Baranowski, Rene Vandenboom, Rebecca E.K. MacPherson, Val A. Fajardo   +8 more
wiley   +1 more source

Dermoscopy: a useful auxiliary tool in the diagnosis of type 1 segmental Darier's disease [PDF]

, 2016
Type 1 segmental Darier's disease is a blaschkolinear variant of Darier's disease resulting from a postzygotic mosaicism. Since it usually lacks diagnostic clues typical of the generalized form, including positive family history of the disease, nail and ...
Errichetti, Enzo, Maione, Vincenzo, Pegolo, Enrico, Stinco, Giuseppe   +3 more
core   +2 more sources

Increased activation of ErbB and NFκB signalling pathways in Darier disease affected skin

Journal of the European Academy of Dermatology and Venereology, EarlyView.
Nancy Ernst, Ralf J. Ludwig, Artem Vorobyev   +2 more
wiley   +1 more source

Transcriptional and functional effects of mavacamten in multiple porcine and human models with hypertrophic cardiomyopathy

British Journal of Pharmacology, Volume 183, Issue 5, Page 1122-1139, March 2026.
Abstract Background and Purpose Mavacamten (MAVA) is a novel small molecule inhibitor of cardiac myosin, mitigating cardiomyocyte hypercontractility in patients with hypertrophic obstructive cardiomyopathy (HOCM). Despite its recent approval for clinical use, the transcriptional and functional impacts of MAVA remain not well understood.
Elisa Kiselev, Wilson Agyapong, Bjarne Jürgens, Elisa Mohr, Shambhabi Chatterjee, Hannah J. Hunkler, Jawad Salman, Giuseppe Cipriano, Marco Bentele, Junqing Liu, Jonas Specht, Kaja S. Menge, Florian J. G. Waleczek, Jonas A. Haas, Anselm A. Derda, Kristina Sonnenschein, Anika Gietz, Susanne Neumüller, Angelika Pfanne, Oliver Beetz, Michael Pflaum, Bettina Wiegmann, Yiangos Psaras, Christopher Toepfer, Robert Zweigerdt, Ante Radocaj, Theresia Kraft, Andre Zeug, Evgeni Ponimaskin, Wilhelm Korte, Alexander Horke, Arjang Ruhparwar, Maximilian Fuchs, Ke Xiao, Christian Bär, Natalie Weber, Thomas Thum   +36 more
wiley   +1 more source

Darier’s Disease: Report of a Case with Facial Involvement

Case Reports in Dermatology, 2019
Darier’s disease is a relatively rare autosomal dominant genodermatosis with a defect in the desmosomal attachment due to a mutation in the ATP2A2 gene.
Chaninan Kositkuljorn, Poonkiat Suchonwanit   +1 more
doaj   +1 more source