Results 171 to 180 of about 1,300,694 (272)

Copy Number Variants in the 11p15.5 Associated Imprinting Disorders: An Attempt to Establish a Genotype-Phenotype Correlation. [PDF]

Clin Genet
Licata AM, Botzenhart E, Kloth-Stachnau K, Eggermann T.   +3 more
europepmc   +1 more source

Role of Imprinting Disorders in Short Children Born SGA and Silver-Russell Syndrome Spectrum.

J Clin Endocrinol Metab, 2021
Fuke T, Nakamura A, Inoue T, Kawashima S, Hara KI, Matsubara K, Sano S, Yamazawa K, Fukami M, Ogata T, Kagami M.   +10 more
europepmc   +1 more source

Assisted reproductive technology represents a possible risk factor for development of epimutation-mediated imprinting disorders for mothers aged ≥ 30 years. [PDF]

Clin Epigenetics, 2020
Hara-Isono K, Matsubara K, Mikami M, Arima T, Ogata T, Fukami M, Kagami M.   +6 more
europepmc   +1 more source

Fluorescence Behavior of Water‐Soluble Porphyrins Immobilized on LTA Zeolite and Its Chlorogenic Acid Polyphenol Sensing in Coffee Wastewater

ENERGY &ENVIRONMENTAL MATERIALS, EarlyView.
During coffee bean and cherry washing, contaminants are released into water, making this process a major source of water pollution. Chlorogenic acid can be efficiently detected using hybrid zeolite–porphyrin materials by measuring fluorescence quenching, achieving detection limits lower than current regulatory thresholds.
João Otávio Donizette Malafatti, Gabriele Magna, Francesco Pizzoli, Fabrizio Caroleo, Cadia D'Ottavi, Williane da Silva Freitas, Ailton José Moreira, Elaine Cristina Paris, Luiz Henrique Capparelli Mattoso, Corrado Di Natale, Roberto Paolesse   +10 more
wiley   +1 more source

Gut microbiota‐related modulation of immune mechanisms in post‐infarction remodelling and heart failure

ESC Heart Failure, Volume 12, Issue 2, Page 942-954, April 2025.
Abstract The immune system has long been recognized as a key driver in the progression of heart failure (HF). However, clinical trials targeting immune effectors have consistently failed to improve patient outcome across different HF aetiologies. The activation of the immune system in HF is complex, involving a broad network of pro‐inflammatory and ...
Johann Roessler, Friederike Zimmermann, Bettina Heidecker, Ulf Landmesser, Arash Haghikia   +4 more
wiley   +1 more source

Nanophotonic Biosensors and the Paradigm of Trans‐Scale Autonomous Bio‐Integrated Diagnostics for Addressing Health Complexities

Electron, EarlyView.
Physics‐driven advances in optical nanobiosensors for rapid, miniaturized, and point‐of‐care diagnostics for next‐generation decentralized and personalized healthcare based on sensor intelligence. ABSTRACT Public health emergencies and the escalating burden of chronic diseases necessitate a paradigm shift from centralized laboratory testing to rapid ...
Vishal Chaudhary, Harsh Sable, Sonu Sonu, Lakshita Phor, Reddicherla Umapathi, Pradeep Bhadola   +5 more
wiley   +1 more source

Molecular characterization of imprinting disorders: Beckwith-Wiedemann, Silver-Russell, and Prader-Willi syndromes in Egyptian patients. [PDF]

BMC Pediatr
Mohamed AM, Eid O, Farid M, Ashaat E, Abdel-Salam GMH, El-Bassyouni HT, Essa M, Mahrous R, Erian PSF, Refaat KM, Fayez A, Zaki M.   +11 more
europepmc   +1 more source

Genetic epilepsies with myoclonic seizures: Mechanisms and syndromes

Epilepsia Open, EarlyView.
Abstract Genetic epilepsy with myoclonic seizures encompasses a heterogeneous spectrum of conditions, ranging from benign and self‐limiting forms to severe, progressive disorders. While their causes are diverse, a significant proportion stems from genetic abnormalities.
Antonietta Coppola, Marica Rubino, Antonella Riva, Pasquale Striano   +3 more
wiley   +1 more source

The genetic architecture of epilepsy across molecular mechanisms and clinical heterogeneity

Epilepsia Open, EarlyView.
Abstract Epilepsy comprises a highly heterogeneous group of neurological disorders unified by a persistent predisposition to recurrent seizures, yet driven by remarkably diverse genetic, molecular, and network‐level mechanisms. Advances in genomic technologies have revealed that epilepsy arises from a multilayered genetic architecture encompassing rare
Mohammad Reza Seyedtaghia, Jina Babanzadeh, Marcello Scala, Lorenzo Perilli, Pasquale Striano   +4 more
wiley   +1 more source

Imprinting Disorders and Epigenetic Alterations in Children Conceived by Assisted Reproductive Technologies: Mechanisms, Clinical Outcomes, and Prenatal Diagnosis. [PDF]

Genes (Basel)
Gambadauro A, Chirico V, Galletta F, Gulino F, Chimenz R, Serraino G, Rulli I, Manganaro A, Gitto E, Marseglia L.   +9 more
europepmc   +1 more source