Results 101 to 110 of about 103,499 (299)

Selective glucocorticoid receptor properties of GSK866 analogs with cysteine reactive warheads [PDF]

, 2017
Synthetic glucocorticoids (GC) are the mainstay therapy for treatment of acute and chronic inflammatory disorders. Due to the high adverse effects associated with long-term use, GC pharmacology has focused since the nineties on more selective GC ligand ...
Atucha, Avenant, Baiula, Barnes, Bauer, Baumer, Beck, Berk, Biggadike, Bledsoe, Bonvini, Carson, Cheatham, Chen, Corne, De Bosscher, De Bosscher, De Bosscher, De Vos, Desmet, Desmet, Engel, Garuti, Helsens, Lieber, Liu, Madauss, Mcmaster, Meijsing, Newton, Newton, Perkins, Proksch, Ratman, Rehman, Reichardt, Rhen, Roskoski, Ryabtsova, Schacke, Schacke, Schacke, Schacke, Schindelin, Schuttelkopf, Shafiee, Simons, Simons, Simons, Singh, Sundahl, Touw, Trott, Vanden Berghe, Vanden Berghe, Vandevyver, Vane, Vanhaesebroeck, Verschuuren, Vettorazzi, Wang, Werkstrom   +61 more
core   +2 more sources

Aging Is a Key Driver for Adult Acute Myeloid Leukemia

Aging and Cancer, EarlyView.
Acute myeloid leukemia (AML) is a classical age‐related hematologic malignancy, and a key driver of AML is aging, which profoundly regulates intrinsic factors such as genomic instability, epigenetic reprogramming, and metabolic dysregulation, and alters bone marrow microenvironment.
Rong Yin, Haojian Zhang
wiley   +1 more source

Complementarity of Long‐Reads and Optical Mapping in Parkinson's Disease for Structural Variants

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Long‐read sequencing and optical genome mapping technologies have the ability to detect large and complex structural variants. This has led to the discovery of novel pathogenic variants in neurodegenerative movement disorders. Thus, we aimed to systematically compare the SV detection capabilities of OGM and ONT in Parkinson's disease.
André Fienemann, Theresa Lüth, Susen Schaake, Carolin Gabbert, Marius Möller, Hauke Busch, Katja Lohmann, Jonas A. Gustafson, Danny E. Miller, Kensuke Daida, Manabu Funayama, Nobutaka Hattori, Samia Ben Sassi, Faycel Hentati, Matthew J. Farrer, Kristian K. Ullrich, Christine Klein, Joanne Trinh   +17 more
wiley   +1 more source

A case with Emanuel syndrome: extra derivative 22 chromosome inherited from the mother

Balkan Journal of Medical Genetics, 2015
Emanuel syndrome (ES) is a rare chromosomal disorder that is characterized by multiple congenital anomalies and developmental disabilities. Affected children are usually identified in the newborn period as the offspring of balanced (11;22) translocation ...
İkbal Atli E, Gürkan H, Vatansever Ü, Ulusal S, Tozkir H   +4 more
doaj   +1 more source

Efficacy of Probiotics for Reducing the Incidence of Lameness in Broilers Grown on Wire Flooring [PDF]

, 2013
Growing broilers on wire flooring provides an excellent experimental model for reproducibly triggering significant levels of lameness. In Pilot Study #1 using broilers from Line C grown on wire flooring, adding the Biomin probiotic PoultryStar® to the ...
Stark, John Matthew
core   +2 more sources

Cracking the Code: Genotype–Phenotype Correlation Models in Sarcoglycanopathies

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Sarcoglycanopathies are among the most severe limb‐girdle muscular dystrophies (LGMD), though milder presentations have been described. These diseases are primarily caused by missense variants, but the limited predictability of their effect on protein maturation, complex formation, and transport has hindered reliable genotype ...
Leonela Luce, Goknur Selen Kocak, José Verdú‐Díaz, Jorge Alonso‐Pérez, Kristl G. Claeys, Tanya Stojkovic, Gorka Fernández‐Eulate, Pascal Laforêt, Najoua Miladi, Filipe Di Pace, Cristiane Araujo Martins Moreno, Edmar Zanoteli, Conrad C. Weihl, Volker Straub, Ana Töpf, Jordi Díaz‐Manera, Sarcoglycan European Cohort Consortium, Adele D′Amico, Adolfo López de Munain, Alicia Alonso‐Jiménez, Ana Camacho‐Salas, Andrea Gangfuß, Andrés Nascimento, Anna Sarkozy, Anneke J. van der Kooi, Arturo Fraga‐Bau, Béla Melegh, Benedikt Schoser, Bjarne Udd, Blaz Koritnik, Carlos Ortez, Chiara Marini Bettolo, Chiara Panicucci, Claudia Weiss, Claudio Bruno, Claudio Semplicini, Cristina Dominguez‐González, Cristina Garrido, David Gómez‐Andrés, Edoardo Malfatti, Elena Pegoraro, Elke De Vos, Francina Munell, Gabriele Dekomien, Giacomo Pietro Comi, Giorgio Tasca, Isabelle Richard, Jan L. De Bleecker, Jana Haberlová, Jesper Helbo Storgaard, Johanna Palmio, John Vissing, Juan Carlos de Leon‐Hernández, Kinga Hadzsiev, Laura Costa‐Comellas, Lea Leonardis, Leroy ten Dam, Lidia González‐Quereda, Luca Bello, Luisa Politano, Manuela Santos, Marianne de Visser, Marie Rohlenová, Matteo Garibaldi, Michela Guglieri, Nicolas Deconinck, Nicoline Løkken, Omar Abdel‐Mannan, Pia Gallano, Roberto Fernández‐Torrón, Ulrike Schara‐Schmidt, Vincenzo Nigro, Vittoria Zangaro   +72 more
wiley   +1 more source

Double Translocation: An Interesting Family History

Balkan Journal of Medical Genetics, 2013
Double balanced translocations are particularly rare and the risk of a fetus with an unbalanced chromosomal anomaly is greater than for single translocation carriers.
Uysal A, Uludağ A, Sılan F, Erçelen N, Zafer C, Özdemir Ö   +5 more
doaj   +1 more source

Emanuel Syndrome with a Distinctive Phenotype: A Case Report and Review with an Indian Perspective [PDF]

Journal of Clinical and Diagnostic Research
Emanuel Syndrome (ES) is a chromosomal disorder characterised by the presence of an extra copy of chromosome 22, specifically a derivative 22 chromosome, which results from an unbalanced translocation involving chromosomes 11 and 22, due to 3:1 meiotic ...
Mamta Belnekar, Shital Virulkar, Tasha Vasaya, Preetha Joshi, Bibhas Kar   +4 more
doaj   +1 more source

A Depolarizing Leak in Sodium Bicarbonate Cotransporter NBCe1 Causes Brain Edema

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objectives SLC4A4 encodes electrogenic sodium bicarbonate cotransporter NBCe1, prominently expressed in kidney and brain. Recessive loss‐of‐function variants in SLC4A4 cause proximal renal tubular acidosis, no brain edema. In the brain, NBCe1 is expressed by astrocytes, where it regulates pH and mediates astrocyte volume changes.
Quinty Bisseling, Mark D. Parker, Sven Kerst, Richard A. Pasternack, Jacob Tondreau, Marjolein Breur, Gemma M. van Rooijen‐van Leeuwen, Davide Tonduti, Ettore Salsano, Alejandra Darling, Joanna A. E. van Wijk, Susanna Törnroth‐Horsefield, Marianna Bugiani, Petra J. W. Pouwels, Quinten Waisfisz, Marjo S. van der Knaap, Rogier Min   +16 more
wiley   +1 more source

The importance of biomass net uptake for a trace metal budget in a forest stand in north-eastern France [PDF]

, 2010
The trace metal (TM: Cd, Cu, Ni, Pb and Zn) budget (stocks and annual fluxes) was evaluated in a forest stand (silver fir, Abies alba Miller) in north-eastern France.
Gandois, Laure, Nicolas, Manuel, Probst, Anne, VanderHeijden, Gregory   +3 more
core   +3 more sources