Results 61 to 70 of about 5,214,246 (295)

Exonization of a deep intronic long interspersed nuclear element in Becker muscular dystrophy

Frontiers in Genetics, 2022
The precise identification of pathogenic DMD variants is sometimes rather difficult, mainly due to complex structural variants (SVs) and deep intronic splice-altering variants.
Zhiying Xie, Chang Liu, Yanyu Lu, Chengyue Sun, Yilin Liu, Meng Yu, Junlong Shu, Lingchao Meng, Jianwen Deng, Wei Zhang, Zhaoxia Wang, He Lv, Yun Yuan   +12 more
doaj   +1 more source

L‐Cysteine and N‐Acetylcysteine Supplementation Improves Clinical Outcome in a Patient With COXPD10

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT MTO1 is a nuclear gene that encodes a mitochondrial protein essential for modifying mitochondrial transfer RNAs (tRNAs) and stabilizing codon‐anticodon interactions to ensure accurate and efficient mitochondrial protein synthesis and oxidative phosphorylation.
Nishitha R. Pillai, Sara A. Elsbecker, Grace Bronken McCarthy, Kaitlin Weisshappel, Peter Karachunski, Fernando Scaglia   +5 more
wiley   +1 more source

T Cell‐Mediated Targeting of Interneurons in Mice Shapes Hippocampal Remodeling and Epilepsy

Annals of Neurology, EarlyView.
Objective Autoimmune encephalitis (AE) is associated with autoantibodies targeting distinct neuronal populations. In AE, antibodies against glutamate decarboxylase 65 (GAD65), expressed in GABAergic interneurons, are frequently detected. In GAD65‐AE, hippocampal biopsies often show infiltrates of CD8+ cytotoxic T cells (CTLs), suggesting a prominent T ...
Daniel S. Galvis‐Montes, Lukas Henning, Karen M. J. van Loo, Rainer Surges, Susanne Schoch, Albert J. Becker, Julika Pitsch   +6 more
wiley   +1 more source

Soziale Ungleichheit von Bildungschancen und Chancengleichheit

, 2004
Zweifelsohne war und ist das Prinzip der Chancengleichheit eine Maxime für die Bildungspolitik und Gestaltung von Bildungssystemen (vgl. Müller 1998; Friedeburg 1992; Baumert 1991: 333).
Rolf Becker, Becker, Rolf
core   +1 more source

Physicochemical Characterization and Technological‐Functional Properties of Brazil Nut Flour and Protein Concentrate

Journal of the American Oil Chemists' Society, EarlyView.
Representation of the graphical abstract of the investigation of physicochemical, functional, and technological properties and amino acid profile of partially defatted flour and protein concentrate from Brazil nuts. ABSTRACT It was investigated the physicochemical, functional and technological properties and amino acid profile of partially defatted ...
Ana Vânia Carvalho, Lucas de Paiva Gouvêa, Tatiana de Lima Azevedo, Rosemar Antoniassi, Janice Ribeiro Lima, Otniel Freitas‐Silva   +5 more
wiley   +1 more source

Chart validation of an algorithm for identifying hereditary progressive muscular dystrophy in healthcare claims

BMC Medical Research Methodology, 2019
Background Muscular dystrophies (MDs) are a group of inherited conditions characterized by progressive muscle degeneration and weakness. The rarity and heterogeneity of the population with MD have hindered therapeutic developments as well as ...
Xiaoxue Chen, Abiy Agiro, Ann S. Martin, Ann M. Lucas, Kevin Haynes   +4 more
doaj   +1 more source

The association between systemic inflammation as measured by calprotectin and autoantibody load in rheumatoid arthritis

Arthritis &Rheumatology, Accepted Article.
Background Plasma calprotectin is a marker of neutrophil activity. Its relation to the clinical phenotype and autoantibodies in rheumatoid arthritis (RA) is only partly understood. We therefore aimed to investigate the association between calprotectin and clinical parameters, CRP, ESR, anti‐CCP2 and other anti‐modified protein autoantibodies (AMPAs) in
Caroline Grönwall, Linda Mathsson Alm, Helga Westerlind, Isabel Gehring, Nasim Ghasemzadeh, Niels Steen Krogh, Siri Lillegraven, Espen Haavardsholm, Martina Johannesson, Tore K. Kvien, Johan Rönnelid, Tue Wenzel Kragstrup, Bente Glintborg, Merete Lund Hetland, Hilde Berner Hammer, The Danish Rheumatologic Biobank Study Group, Swedish Rheumatology Quality Register Biobank Study Group(SRQb), Johan Askling, Oliver Hendricks, Estrid Høgdall, Dorte Vendelbo Jensen, Heidi Lausten Munk, Jens Kristian Pedersen, Torkell Ellingsen, Anne Gitte Loft, Ellen‐Margrethe Hauge, Salome Kristensen, Lene Dreyer, Asta Linauskas, Søren Jacobsen, Carl Turesson, Solbritt Rantapää Dahlqvist, Lena Björkman, Alf Kastbom, Eva Baecklund   +34 more
wiley   +1 more source

Safety and pharmacokinetics of mosliciguat, a new, inhaled soluble guanylate cyclase activator, in healthy adult subjects

British Journal of Clinical Pharmacology, EarlyView.
Abstract Aim Mosliciguat (BAY 1237592), the first soluble guanylate cyclase (sGC) activator in a dry powder inhaler (DPI), could potentially treat pulmonary hypertension with a more targeted delivery than systemic sGC stimulators. We report safety and tolerability of mosliciguat in healthy men.
Johannes Nagelschmitz, Soundos Saleh, Sandra Ligges, Melanie Seidel‐Greven, Eva Becker‐Pelster, Sylvia M. Nikkho, Stefanie Boxnick, Wolfgang Timmer   +7 more
wiley   +1 more source

Review of the fauna associated with wild and farmed mussels and oysters in the Mediterranean

Biological Reviews, EarlyView.
ABSTRACT Mussels and oysters are important ecosystem engineers which modify the physical and chemical characteristics of the environment and create habitats that support highly diverse associated communities. In the Mediterranean Sea, the native Mediterranean mussel Mytilus galloprovincialis and the European flat oyster Ostrea edulis, together the ...
Barbara Mikac, Marina Antonia Colangelo, Alessandro Tarullo, Marco Abbiati, Eugenio Fossi, Federica Costantini   +5 more
wiley   +1 more source

Co-occurrence of Xp21 microduplication encompassing the DMD locus in conjunction with 17p12/PMP22 microduplication in a female with Charcot–Marie–Tooth disease type 1A

Egyptian Journal of Medical Human Genetics, 2015
We report on the molecular detection of two microduplications involving chromosomes Xp21.1–Xp21.2 and 17p12 in a 35-year-old female with clinical phenotype of Charcot–Marie–Tooth disease type 1A (CMT1A) documented by chromosomal microarray analysis.
Alpa Sidhu, Michael Hankerd, Kelly Kennelly, Melissa Kristofice, Salah Ebrahim   +4 more
doaj   +1 more source