Genetic and molecular architecture of familial hypercholesterolemia
Journal of Internal Medicine, Volume 293, Issue 2, Page 144-165, February 2023., 2023 Abstract Atherosclerotic cardiovascular disease is the leading cause of death globally. Despite its important risk of premature atherosclerosis and cardiovascular disease, familial hypercholesterolemia (FH) is still largely underdiagnosed worldwide. It is one of the most frequently inherited diseases due to mutations, for autosomal dominant forms, in ...
Marianne Abifadel, Catherine Boileau
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Fluorescent PCR and automated fragment analysis in preimplantation genetic diagnosis for 21-hydroxylase deficiency in congenital adrenal hyperplasia [PDF]
, 1999 H. Van de Velde
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Treatment Selection and Prioritization for the EJS ACT‐PD MAMS Trial Platform
Movement Disorders, EarlyView.Abstract Background There are currently no disease‐modifying therapies (DMTs) registered for Parkinson's disease (PD). The Edmond J. Safra Accelerating Clinical Trials in Parkinson Disease (EJS ACT‐PD) initiative will expedite clinical assessment of putative DMTs through a multi‐arm multistage (MAMS) trial, testing several treatments against a common ...
Cristina Gonzalez‐Robles +29 more
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Nonisotopic detection of point mutations in CYP21B gene in steroid 21-hydroxylase deficiency [PDF]
, 1996 Begoña Ezquieta +4 more
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Molecular Tools to Study and Control Dopaminergic Neurotransmission With Light
Medicinal Research Reviews, EarlyView.ABSTRACT Dopaminergic neurotransmission is involved in several important brain functions, such as motor control, learning, reward‐motivated behavior, and emotions. Dysfunctions of dopaminergic system may lead to the development of various neurological and psychiatric disorders, like Parkinson's disease, schizophrenia, depression, and addictions ...
Galyna Maleeva +5 more
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Apparent activities of 21-hydroxylase, 17alpha-hydroxylase and 17,20-lyase are impaired in adrenal incidentalomas [PDF]
, 1999 JL Sadoul +4 more
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The role of gut microbiota‐derived metabolites in neuroinflammation
Neuroprotection, EarlyView.Gut microbiota‐derived metabolites accumulate in the brain, activating or inhibiting microglia and astrocytes, which affects neuroinflammatory progression. The gut microbiota converts the diet into a variety of metabolites, including bile acid, trimethylamine N‑oxide (TMAO), and indole.
Lingjie Mu, Yijie Wang
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The prevalence and genotype of 21-hydroxylase deficiency in the Croatian Romani population. [PDF]
Front Endocrinol (Lausanne), 2023 Dumic KK +7 more
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Antenatal treatment for classic 21-hydroxylase forms of congenital adrenal hyperplasia and the issues [PDF]
, 1999 Julie Travitz, Daniel L. Metzger
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Natural Sciences, EarlyView.The most common cystic fibrosis‐causing F508del mutation is located in the first nucleotide‐binding domain (hNBD1) of the human cystic fibrosis transmembrane conductance regulator (hCFTR). The ATP‐dependent weakest noncovalent bridge in isolated hNBD1 is found between two specific bold residues in the biggest thermo‐ring (highlighted in red) at or near
Guangyu Wang
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