Results 151 to 160 of about 501,506 (307)

Assessment of Metabolic Parameters For Autism Spectrum Disorders [PDF]

, 2009
Autism is a brain development disorder that first appears during infancy or childhood, and generally follows a steady course without remission. Impairments result from maturation-related changes in various systems of the brain.
Ghosh, S, Koch, M, Rao, Mr AN, Shobha, G, Suresh Kumar, V   +4 more
core  

Sensing and Filtering Environmental Fluctuations: The Case of Biomolecular Condensates in Plants

Advanced Science, EarlyView.
The diversity of plant condensates reflects constraints of sessile organisms to coordinate postembryonic development with environmental adaptation. This review examines how plants employ condensates to integrate temperature, light, redox, and nutrient signals.
Panagiotis N. Moschou, Dorothee Staiger
wiley   +1 more source

Sampling Strategy: An Overlooked Factor Affecting Artificial Intelligence Prediction Accuracy of Peptides’ Physicochemical Properties

Advanced Intelligent Discovery, EarlyView.
This study reveals that sampling strategy (i.e., sampling size and approach) is a foundational prerequisite for building accurate and generalizable AI models in peptide discovery. Reaching a threshold of 7.5% of the total tetrapeptide sequence space was essential to ensure reliable predictions.
Meiru Yan, Ankeer Abuduhebaier, Haojin Zhou, Jiaqi Wang   +3 more
wiley   +1 more source

Relative Exchangeable Copper Confirms Wilson Disease and Supports Reclassification of the ATP7B p.Met665Ile Variant With Conflicting Pathogenicity Evidence

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Wilson disease (WD) is an autosomal recessive disorder of copper metabolism caused by ATP7B mutations. Diagnosis is usually straightforward in symptomatic patients, but can be challenging in children and adolescents with mild liver disease, borderline urinary copper excretion, or inconclusive genetic findings.
Emanuele Nicastro, Caterina Zuccoli, Roberto Marozzi, Antonino Barletta, Lisa Licini, Paola Tebaldi, Valeria Casotti, Mariangela Stinco, Lidia Pezzani, Maria Iascone, Lorenzo D'Antiga   +10 more
wiley   +1 more source

Methionine [PDF]

, 2020
openaire   +1 more source

Expanding the Phenotype of TUFM‐Related Combined Oxidative Phosphorylation Deficiency 4

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Combined oxidative phosphorylation deficiency 4 (COXPD4) is a rare mitochondrial condition caused by biallelic deleterious variants in the nuclear‐encoded gene TUFM. To date, most individuals with COXPD4 have presented with encephalopathy, hypotonia, and abnormal brain imaging. Many of the reported individuals died in infancy. We aim to expand
Noémie Villeneuve‐Cloutier, Jodi Warman‐Chardon, Danielle K. Bourque   +2 more
wiley   +1 more source

Long‐Term Follow Up of Two Patients With Variants in the Cluster 1031‐1159 of TRRAP Gene: Expanding the Phenotype of Developmental Delay With or Without Dysmorphic Facies and Autism

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The transformation/transcription domain‐associated protein (TRRAP) gene encodes a large multidomain protein, a member of the phosphatidylinositol 3‐kinase‐related kinase (PIKK) family. TRRAP is a component of the histone acetyltransferase (HAT) complex, and it plays an important role in gene transcription, DNA repair, and cell‐cycle regulation.
Roseli Maria Zechi‐Ceide, Vinicius Contrucci Dantas Segarra, Siulan Vendramini‐Pittoli, Henrique Regonaschi Serigatto, Luiza Virmond, Heloisa Marcelina da Cunha Palhares, Fernanda Jehee, Ana Cristina Victorino Krepischi, Carla Rosenberg, Carlos Henrique Paiva Grangeiro, Nancy Mizue Kokitsu‐Nakata   +10 more
wiley   +1 more source

Recent Trends in Metabolomics by NMR Spectroscopy

Angewandte Chemie, EarlyView.
AI tools were applied to analyze more than 5 000 publications indexed in Scopus (2018–2025), identifying key trends and research directions in NMR‐based metabolomics. The artificial intelligence‐assisted workflow classified papers into six main fields of application, human health, food and nutrition, veterinary science, plants, environment, and ...
Giorgio Di Paco, Gaia Meoni, Veronica Ghini, Alessia Vignoli, Leonardo Tenori, Paola Turano, Claudio Luchinat   +6 more
wiley   +2 more sources

Molecular Profiling of Genes Associated With Methylphenidate Pathway Therapy and Discovery of New Variants in Amazonian Amerindian Populations

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT In Attention Deficit Hyperactivity Disorder (ADHD), methylphenidate is one of the most widely used drugs, in which patient response significantly impacts prognosis. This study aimed to characterize the molecular profile of 10 genes associated with methylphenidate therapy.
Aline Pasquini Santos, Tatiane Carinta de Souza, Kaio Evandro Cardoso Aguiar, Ana Caroline Alves da Costa, Natasha Monte, Juliana Carla Gomes Rodrigues, Giovanna Gilioli da Costa Nunes, Rita de Cássia Calderaro Coelho, Ândrea Ribeiro‐dos‐Santos, André Maurício Ribeiro dos Santos, Sandro José de Souza, Sidney Emanuel Batista dos Santos, Rommel Mario Rodriguez Burbano, Marianne Rodrigues Fernandes, Ney Pereira Carneiro dos Santos   +14 more
wiley   +1 more source

Chemical Metabolomics: Chemical Biology Tools for Advanced Metabolism Investigations

Angewandte Chemie, EarlyView.
The human metabolism has been investigated for several millennia. The metabolome is known for a high complexity due to a large number of different metabolites that are present at different concentrations. Metabolomics has been developed as a field to investigate the entire human metabolome and to elucidate disease development mechanisms.
Alejandro Torregrosa‐Chinillach, Ioanna Tsiara, Wawrzyniec Haberek, Weifeng Lin, Daniel Globisch   +4 more
wiley   +2 more sources