Results 11 to 20 of about 6,812 (127)

Recurrent “outsider” intronic variation in the SLC5A6 gene causes severe mixed axonal and demyelinating neuropathy, cyclic vomiting and optic atrophy in 3 families from Maghreb [PDF]

Frontiers in Genetics
Sodium dependent multivitamin transporter (SMVT) deficiency is a very rare autosomal recessive disorder characterized by multisystemic clinical manifestations due to combined biotin, panthotenic acid and lipoic acid deficiency.
Lamisse Mansour-Hendili, Lamisse Mansour-Hendili, Cyril Gitiaux, Cyril Gitiaux, Madeleine Harion, Madeleine Harion, Madeleine Harion, Céline Latouche, Bénédicte Heron, Bénédicte Heron, Tanya Stojkovic, Mélanie Rama, Thomas Smol, Thomas Smol, Anne Sophie Jourdain, Anne Sophie Jourdain, Karine Mention, Yann Nadjar, Manuel Schiff, Manuel Schiff, Manuel Schiff, Julie Lemale, Jamal Ghoumid, Jamal Ghoumid, Frédéric Gottrand, Frédéric Gottrand, Cécile Talbotec, Agnès Rötig, Agnès Rötig, Benoît Funalot, Benoît Funalot, Isabelle Desguerre, Isabelle Desguerre   +32 more
doaj   +2 more sources

Noninvasive Mapping System for the Stereotactic Radioablation Treatment of Ventricular Tachycardia: A Case Description [PDF]

Journal of Cardiovascular Development and Disease
Objectives: Sustained monomorphic ventricular tachycardia (SMVT) is a life-threatening condition that is often observed in patients with structural heart disease. Catheter ablation (CA) ablation is an effective and well-established treatment for the scar-
Imma Romanazzi, Antonio Di Monaco, Ilaria Bonaparte, Noemi Valenti, Alessia Surgo, Fiorella Di Guglielmo, Alba Fiorentino, Massimo Grimaldi   +7 more
doaj   +2 more sources

A mild case of SMVT deficiency illustrating the importance of treatment response in variant classification [PDF]

Molecular Case Studies, 2022
Introduction Sodium-dependent multivitamin transporter (SMVT) deficiency is a recently described multivitamin-responsive IMD of which the phenotypic spectrum and response to treatment remains to be elucidated. So far, four pediatric patients have been described in three case reports with symptoms ranging from severe neurodevelopmental delay to feeding ...
Ingeborg Hauth, Hans Waterham, Ronald JA Wanders, Saskia van der Crabben, Clara DM van Karnebeek   +4 more
openaire   +6 more sources

Drug-Resistant Sinus Tachycardia as a Dose-Dependent Side Effect of Spironolactone: A Case Report and Review of the Literature. [PDF]

Clin Case Rep
ABSTRACT Spironolactone is widely used for polycystic ovarian syndrome due to its anti‐androgenic properties. However, rare cardiovascular side effects may occur even in normotensive patients. We report a case of severe palpitations and drug‐resistant sinus tachycardia following high‐dose therapy, emphasizing the need for cautious titration and cardiac
Abdi Z, Chenaghlou M, Rezabakhsh A, Hooshmand Gharabagh L.   +3 more
europepmc   +2 more sources

The effect of sports-metrics volleyball training on the landing error scoring system in female volleyball players [PDF]

Sport Sciences and Health Research, 2021
Background: Excessive repetitions of the landing and jumping task are a key risk factor for lower extremity injury (specially ACL) in female volleyball players.Aim: this study investigates the effect of Sports-Metrics Volleyball Training (SMVT) on ...
shahnaz shahrjerdi, Heman Mohammadi, sharareh Amiri   +2 more
doaj   +1 more source

Biotin controls intestinal stem cell mitosis and host-microbiome interactions

Cell Reports, 2022
Summary: Diet is a key regulator of metabolism and interacts with the intestinal microbiome. Here, we study the role of the Drosophila intestinal stem cell (ISC)-specific biotin transporter Smvt in midgut homeostasis, infection-induced regeneration, and ...
Constantina Neophytou, Chrysoula Pitsouli   +1 more
doaj   +1 more source

Polymicrobial Bacteremia Due to SARS-CoV-2–Related Superior Mesenteric Vein Thrombosis

Annals of Internal Medicine: Clinical Cases, 2023
Superior mesenteric vein thrombosis (SMVT) is a rare but serious complication associated with COVID-19 infection that can lead to bowel ischemia or infarction.
Blake H. Bentley, Emily C. Sparks, Kevin P. High   +2 more
doaj   +1 more source

Sodium Dependent Multivitamin Transporter (SMVT): A Potential Target for Drug Delivery [PDF]

Current Drug Targets, 2012
Sodium dependent multivitamin transporter (SMVT; product of the SLC5A6 gene) is an important transmembrane protein responsible for translocation of vitamins and other essential cofactors such as biotin, pantothenic acid and lipoic acid. Hydropathy plot (Kyte-Dolittle algorithm) revealed that human SMVT protein consists of 635 amino acids and 12 ...
Aswani Dutt, Vadlapudi, Ramya Krishna, Vadlapatla, Ashim K, Mitra   +2 more
openaire   +2 more sources

Holocarboxylase synthetase regulates expression of biotin transporters by chromatin remodeling events at the SMVT locus [PDF]

The Journal of Nutritional Biochemistry, 2008
The sodium-dependent multivitamin transporter (SMVT) is essential for mediating and regulating biotin entry into mammalian cells. In cells, biotin is covalently linked to histones in a reaction catalyzed by holocarboxylase synthetase (HCS); biotinylation of lysine 12-biotinylated histone H4 (K12Bio H4) causes gene silencing.
Gralla, Michael, Camporeale, Gabriela, Zempleni, Janos   +2 more
openaire   +3 more sources

Role of the sodium-dependent multivitamin transporter (SMVT) in the maintenance of intestinal mucosal integrity [PDF]

American Journal of Physiology-Gastrointestinal and Liver Physiology, 2016
Utilizing a conditional (intestinal-specific) knockout (cKO) mouse model, we have recently shown that the sodium-dependent multivitamin transporter (SMVT) ( SLC5A6) is the only biotin uptake system that operates in the gut and that its deletion leads to biotin deficiency.
Subrata, Sabui, Jennifer Ann, Bohl, Rubina, Kapadia, Kyle, Cogburn, Abhisek, Ghosal, Nils W, Lambrecht, Hamid M, Said   +6 more
openaire   +2 more sources