Results 91 to 100 of about 75,903 (304)
Nonclassic Congenital Adrenal Hyperplasia (NCCAH) Due to 21-Hydroxylase Deficiency: Clinical Management and Genetic Counseling of Two Portuguese Families [PDF]
, 2016 Introduction: Congenital adrenal hyperplasia (CAH) due to 21-Hydroxylase deficiency occurs in 90-95% of cases, being a common autosomal recessive condition that can present with a wide range of hyperandrogenemic signs in childhood or adulthood ...
Antunes, Diana +4 more
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Evidence Favoring a Positive Feedback Loop for Physiologic Auto Upregulation of hnRNP-E1 during Prolonged Folate Deficiency in Human Placental Cells [PDF]
, 2017 Background: Previously, we determined that heterogeneous nuclear ribonucleoprotein E1 (hnRNP-E1) functions as an intracellular physiologic sensor of folate deficiency.
Antony, Aśok C. +7 more
core +1 more source
Palmitic Acid Promotes Antiviral Innate Immunity via ZDHHC20‐Mediated CMPK2 Palmitoylation
Advanced Science, EarlyView.Metabolites have important functions in innate immune activation and regulation. Wang et al. uncover metabolic regulation of antiviral immunity through CMPK2 palmitoylation, which regulates CMPK2 mitochondrial localization and is promoted by ZDHHC20 but reversed by PPT1, inhibition of which antagonizes viral infection in mice.
Yujia Wang +4 more
wiley +1 more source
Single-Cell RNA-seq Reveals Profound Alterations in Mechanosensitive Dorsal Root Ganglion Neurons with Vitamin E Deficiency. [PDF]
, 2019 Ninety percent of Americans consume less than the estimated average requirements of dietary vitamin E (vitE). Severe vitE deficiency due to genetic mutations in the tocopherol transfer protein (TTPA) in humans results in ataxia with vitE deficiency (AVED)
Bordbari, Matthew H +9 more
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Metabolic engineering of micronutrients in crop plants [PDF]
, 2016 Micronutrient deficiency is a widespread phenomenon, most prevalent in developing countries. Being causally linked to the occurrence of a range of diseases, it affects billions of people worldwide. Enhancing the content of micronutrients in crop products
Blancquaert, Dieter +3 more
core +2 more sources
Advanced Science, EarlyView.This study systematically reveals a complex interactive network involving plants, microbes, and insects, elucidating the ecological and molecular mechanisms by which cotton enhances its resistance to aphids through the active recruitment of the beneficial soil bacterium Delftia tsuruhatensis.
Hui Xue +11 more
wiley +1 more source
Coenzyme Q10 deficiencies: pathways in yeast and humans. [PDF]
, 2018 Coenzyme Q (ubiquinone or CoQ) is an essential lipid that plays a role in mitochondrial respiratory electron transport and serves as an important antioxidant.
Awad, Agape M +5 more
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, 2014 Vitamin D deficiency has been linked to an increased risk of a wide range of adverse health outcomes. The active form of vitamin D has an important role in calcium metabolism and in bone mineralisation, but the evidence for other health outcomes is mixed,
Geldenhuys, Sian +3 more
core +1 more source
Advanced Science, EarlyView.Neuroinflammation alters blood–brain barrier integrity and contributes to neurological disorders, yet existing models lack human immune complexity. This study presents a 3D, immune‐responsive platform that reconstructs key neurovascular components and enables real‐time monitoring.
Pavlo Gordiichuk +9 more
wiley +1 more source
Developmental and Phenotypic Outcomes in Mild Phenylalanine Hydroxylase Deficiency
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Benign hyperphenylalaninemia (bHPA) is defined as elevated phenylalanine (Phe) levels remaining ≤ 360 μmol/L (6 mg/dL) and not requiring medical intervention. Individuals with bHPA may demonstrate a rise in their Phe levels > 360 μmol/L, effectively developing a mild PKU phenotype requiring therapy to prevent neurocognitive complications. This
Aaron Williams +8 more
wiley +1 more source