Results 81 to 90 of about 1,622,122 (202)

Johann August Ehrlichs Chirurgische, auf Reisen, vorzüglich in den Hospitälern zu London gemachte Beobachtungen : nebst Angabe verbesserter Operationsarten und Abbildung neuer Instrumente

Vorlageform des Erscheinungsvermerks: Leipzig, bey Johann Ambrosius Barth. 1795.Ill. (Kupferst.
Ehrlich, Johann August
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Aberrant TMPRSS6‐Protease Regulation of Disease Mutant HCN4–KCNE1 Channel Complex Depends on the KCNE1‐G38S Polymorphism

Archiv der Pharmazie, Volume 359, Issue 6, June 2026.
TMPRSS6‐mediated cleavage of the HCN4–KCNE1 channel complex may modulate disease phenotype in a KCNE1 genotype‐dependent manner. ABSTRACT The sinoatrial node pacemaker channel HCN4 plays a central role in cardiac automaticity, and disease‐associated variants can predispose to atrial arrhythmias.
David Linhoff, Minay Mertens, Ricarda Zimmermann, Stefan Peischard, Christoph Brenker, Thomas Budde, Sven Meuth, Christos Gatsogiannis, Annika Lüttjohann, Liudmila Sosulina, Jürgen Hescheler, Nathalie Strutz‐Seebohm, Guiscard Seebohm   +12 more
wiley   +1 more source

Brief von Michael Barth an Kurt Rothschild

BRIEF VON MICHAEL BARTH AN KURT ROTHSCHILD Brief von Michael Barth an Kurt Rothschild ([1]
Barth, Michael
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Johann Christoph Maiers ... Beschreibung von Venedig : Mit Grundrissen und Kupfern

Vorlageform des Erscheinungsvermerks: Leipzig, bei Johann Ambrosius Barth 1795.Titelkupfer, Kt. (Kupferst.
Maier, Johann Christoph
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AAV9-TAZ Gene Replacement Ameliorates Cardiac TMT Proteomic Profiles in a Mouse Model of Barth Syndrome

Molecular Therapy: Methods & Clinical Development, 2019
Barth syndrome (BTHS) is a rare mitochondrial disease that causes severe cardiomyopathy and has no disease-modifying therapy. It is caused by recessive mutations in the gene tafazzin (TAZ), which encodes tafazzin—an acyltransferase that remodels the ...
Silveli Suzuki-Hatano, Madhurima Saha, Meghan S. Soustek, Peter B. Kang, Barry J. Byrne, W. Todd Cade, Christina A. Pacak   +6 more
doaj   +1 more source

Phospholipid abnormalities in children with Barth syndrome

Journal of the American College of Cardiology, 2003
We sought to identify characteristic lipid abnormalities in patients with Barth syndrome (BTHS) and to correlate the lipid profile to phenotype and genotype.Barth syndrome typically includes cardiomyopathy, skeletal myopathy, neutropenia, growth retardation, and 3-methylglutaconic aciduria, and it is commonly associated with mutations in the tafazzin ...
Schlame, Michael, Kelley, Richard I., Feigenbaum, Annette, Towbin, Jeffrey A., Heerdt, Paul M., Schieble, Thomas, Wanders, Ronald J. A., DiMauro, Salvatore, Blanck, Thomas J. J.   +8 more
openaire   +3 more sources

Philoikos zur Beförderung häuslicher Tugend und Glückseligkeit

Autopsie nach Exemplar der ULB Sachsen-AnhaltVorlageform des Erscheinungsvermerks: Leipzig, bei Johann Ambrosius Barth ...
Pischon, Johann Karl
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A novel intronic splice site tafazzin gene mutation detected prenatally in a family with Barth syndrome

Balkan Journal of Medical Genetics, 2016
Barth syndrome (BTHS) is a rare X-linked disease characterized by dilated cardiomyopathy, proximal skeletal myopathy and cyclic neutropenia. It is caused by various mutations in the tafazzin (TAZ) gene located on Xq28 that results in remodeling of ...
Bakšienė M, Benušienė E, Morkūnienė A, Ambrozaitytė L, Utkus A, Kučinskas V   +5 more
doaj   +1 more source

Anfangsgründe der griechischen Sprache / entworfen von Johann Georg Trendelenburg Professor der griechischen und morgenländischen Literatur zu Danzig, und der churfürstl. deutsch. gelehrt. Gesellsch. Mitglied in Mannheim.

Autopsie nach Ex. der ULB Sachsen-AnhaltVorlageform des Erscheinungsvermerks: Leipzig 1790 bey Joh.
Trendelenburg, Johann Georg
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Emerging roles of pyruvate dehydrogenase phosphatase 1: a key player in metabolic health

Frontiers in Physiology
Pyruvate dehydrogenase phosphatase (PDP), a structurally conserved member of the protein phosphatase C family (PP2C) of proteins, is a key regulatory enzyme responsible for reactivation of the mitochondrial gate-keeper, pyruvate dehydrogenase (PDH ...
Vikalp Kumar, Miriam L. Greenberg
doaj   +1 more source