Results 41 to 50 of about 6,638 (137)

Cobalamin deficiency resulting in a rare haematological disorder: a case report

Journal of Medical Case Reports, 2009
Introduction We present the case of a patient with a cobalamin deficiency resulting in pancytopaenia, emphasizing the importance to define, diagnose and treat cobalamin deficiency. Case presentation A 52-year-old man from the Democratic Republic of Congo
Chapuis Thomas M, Favrat Bernard, Bodenmann Patrick   +2 more
doaj   +1 more source

Human Engineered Heart Tissues Reproduce Trigger‐ and Substrate‐Driven Mechanisms of Ventricular Tachycardia

Advanced Science, EarlyView.
Engineered heart tissues (EHTs) derived from human iPSCs replicate mechanisms of ventricular tachycardia at the tissue level. Acquired Long‐QT conditions cause early afterdepolarizations, wavebreak, and transient rotors; in contrast, focal cryoinjury forms a stable substrate that supports ongoing reentry.
Matthew Fiedler, Alejandra Vasquez Limeta, Ernesto Reyes Sanchez, Leah Carter, Francisco Altamirano   +4 more
wiley   +1 more source

Trace Elements Genetics: A Potential Role in Treatment‐Resistant Major Psychoses and Related Traits?

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT Trace elements are pivotal to key biological processes, with possible effects on psychopathology. We investigated the hypothesis of shared genetic factors between trace elements levels, treatment resistance and related traits. We used genome‐wide summary statistics for trace elements blood concentration, treatment‐resistant depression (TRD ...
Chiara Fabbri, Alessandro Serretti, Marco Menchetti, Benedetta Vai, Francesco Benedetti, Lidia Fortaner‐Uyà, Concetta Crisafulli   +6 more
wiley   +1 more source

Serum cobalamin, urinary methylmalonic acid and plasma homocysteine concentrations in healthy and cobalamin-deficient Border Collies [PDF]

, 2011
Beim Border Collie wird ein erblicher Cobalaminmangel vermutet. Die Diagnose beruht auf einer tiefen Cobalamin- und einer erhöhten Homozysteinkonzentration im Blut sowie auf einer erhöhten Methylmalonsäurekonzentration im Urin. Ziele dieser Studie waren (
Lutz, Sabina
core   +2 more sources

Evaluating Red Patches and Burning Mouth Symptoms as Oral Biomarkers in Cobalamin Deficiency: A Comparative Study

Plasmatology
Background Vitamin B12 (cobalamin) deficiency can manifest through various nonspecific oral symptoms. Early diagnosis is crucial but challenging due to subtle and progressive clinical features.
Sanjay Chikkarasinakere Jogigowda MDS, Karthikeya Patil MDS, Varusha Sharon Christopher MDS, Namrata Suresh MDS, Shilpa Padar Shastry MDS, Vidya Gowdappa Doddawad MDS   +5 more
doaj   +1 more source

A dodecylamine derivative of cyanocobalamin potently inhibits the activities of cobalamin-dependent methylmalonyl-CoA mutase and methionine synthase of Caenorhabditis elegans

FEBS Open Bio, 2014
In this study, we showed that cyanocobalamin dodecylamine, a ribose 5′-carbamate derivative of cyanocobalamin, was absorbed and accumulated to significant levels by Caenorhabditis elegans and was not further metabolized.
Tomohiro Bito, Yukinori Yabuta, Tsuyoshi Ichiyanagi, Tsuyoshi Kawano, Fumio Watanabe   +4 more
doaj   +1 more source

Transcriptomic Profiling of SLC and ABC Transporters in the Human Term Placenta

Clinical Pharmacology &Therapeutics, EarlyView.
Solute carriers (SLC) and ATP‐binding cassette (ABC) transporters are essential for placental solute exchange and fetal protection, yet their transcriptomic profiles in the human placenta remain poorly characterized. Although fetal sex influences placental development and function, its impact on transporter expression is unclear.
Elijah Marsh Jung, Nicholas Ieronimakis, Bothaina Mousa, Emily D. Sheikh, Sarah E. Ligon, Joshua W. Monson, Jennifer R. Damicis, Hillary J. Kinsman, Lydia E. Bettridge, Samuel L.M. Arnold, Edward J. Kelly, Jashvant D. Unadkat, Joanne Wang   +12 more
wiley   +1 more source

Cobalamin-Dependent Apparent Intramolecular Methyl Transfer for Biocatalytic Constitutional Isomerization of Catechol Monomethyl Ethers

, 2019
Isomerization is a fundamental reaction in chemistry. However, isomerization of phenyl methyl ethers has not been described yet. Using a cobalamin-dependent methyl transferase, a reversible shuttle concept was investigated for isomerization of catechol ...
Wolfgang Kroutil (1279629), Ferdinand Zepeck, Katharina Hiebler (1674478), Sarah Bierbaumer, Ferdinand Zepeck (1479463), Katharina Hiebler, Wolfgang Kroutil, Wolfgang Skibar (2723902), Judith E. Farnberger (6550892), Judith E. Farnberger, Sarah Bierbaumer (6550895), Wolfgang Skibar   +11 more
core   +1 more source

Structure of full-length cobalamin-dependent methionine synthase and cofactor loading captured in crystallo

Nature Communications, 2023
Cobalamin-dependent methionine synthase (MS) is a key enzyme in methionine and folate one-carbon metabolism. MS is a large multi-domain protein capable of binding and activating three substrates: homocysteine, folate, and S-adenosylmethionine for ...
Johnny Mendoza, Meredith Purchal, Kazuhiro Yamada, Markos Koutmos   +3 more
doaj   +1 more source

Inherited metabolic epilepsies–established diseases, new approaches

Epilepsia Open, EarlyView.
Abstract Inherited metabolic epilepsies (IMEs) represent the inherited metabolic disorders (IMDs) in which epilepsy is a prevailing component, often determining other neurodevelopmental outcomes associated with the disorder. The different metabolic pathways affected by individual IMEs are the basis of their rarity and heterogeneity.
Itay Tokatly Latzer, Phillip L. Pearl
wiley   +1 more source