Results 91 to 100 of about 5,596,228 (313)

An integrated multi-omic natural history study of human development, sexual dimorphism, and the effects of trisomy 21

open access: yesNature Communications
Human development involves multiple signaling pathways acting concertedly in an age- and sex-specific fashion. Trisomy 21, the genetic cause of Down syndrome, dysregulates human development leading to both early neurodevelopmental delays and atypical ...
Neetha Paul Eduthan   +6 more
doaj   +1 more source

The Metabolic Cardiovascular Syndrome: Syndrome X, Reavenʼs Syndrome, Insulin Resistance Syndrome, Atherothrombogenic Syndrome

open access: yesJournal of Cardiovascular Pharmacology, 1992
A short review of the metabolic cardiovascular risk syndrome (MCVS) is given. Traditionally, cardiovascular risk has been associated with three so-called "main" risk factors; hypercholesterolemia, hypertension, and smoking. In addition, the association between diabetes and cardiovascular disease has been known for many years in clinical medicine ...
openaire   +3 more sources

Reciprocal control of viral infection and phosphoinositide dynamics

open access: yesFEBS Letters, EarlyView.
Phosphoinositides, although scarce, regulate key cellular processes, including membrane dynamics and signaling. Viruses exploit these lipids to support their entry, replication, assembly, and egress. The central role of phosphoinositides in infection highlights phosphoinositide metabolism as a promising antiviral target.
Marie Déborah Bancilhon, Bruno Mesmin
wiley   +1 more source

Abnormal expression of cerebrospinal fluid cation chloride cotransporters in patients with Rett Syndrome [PDF]

open access: yes, 2013
Objective: Rett Syndrome is a progressive neurodevelopmental disorder caused mainly by mutations in the gene encoding methyl-CpG-binding protein 2. The relevance of MeCP2 for GABAergic function was previously documented in animal models. In these models,
Armstrong, Judith   +11 more
core   +4 more sources

Serotonin Syndrome

open access: yesAnnals of Indian Academy of Neurology, 2021
Sanjay Prakash   +2 more
openaire   +4 more sources

Spatiotemporal and quantitative analyses of phosphoinositides – fluorescent probe—and mass spectrometry‐based approaches

open access: yesFEBS Letters, EarlyView.
Fluorescent probes allow dynamic visualization of phosphoinositides in living cells (left), whereas mass spectrometry provides high‐sensitivity, isomer‐resolved quantitation (right). Their synergistic use captures complementary aspects of lipid signaling. This review illustrates how these approaches reveal the spatiotemporal regulation and quantitative
Hiroaki Kajiho   +3 more
wiley   +1 more source

The economic impact of caregiving for individuals with Angelman syndrome in the United States: results from a caregiver survey

open access: yesOrphanet Journal of Rare Diseases
Background Angelman syndrome (AS) is a rare neurogenetic disorder characterized by persistent cognitive and functional impairments that necessitate lifelong care.
John Jarvis   +9 more
doaj   +1 more source

Cowden syndrome - Diagnostic skin signs [PDF]

open access: yes, 2001
Cowden syndrome is a rare autosomal dominant familial cancer syndrome with a high risk of breast cancer. The most important clinical features include carcinomas of the breast and thyroid, and hamartomatous polyps of the gastrointestinal tract.
Burgdorf, Walter H. C.   +2 more
core   +1 more source

Phosphatidylinositol 4‐kinase as a target of pathogens—friend or foe?

open access: yesFEBS Letters, EarlyView.
This graphical summary illustrates the roles of phosphatidylinositol 4‐kinases (PI4Ks). PI4Ks regulate key cellular processes and can be hijacked by pathogens, such as viruses, bacteria and parasites, to support their intracellular replication. Their dual role as essential host enzymes and pathogen cofactors makes them promising drug targets.
Ana C. Mendes   +3 more
wiley   +1 more source

Kartagener’s syndrome

open access: yesPan African Medical Journal, 2018
A 29-year-old non-smoker male with a history of chronic cough, and recurrent pneumonia, sinusitis and otomastoiditis was admitted to the emergency room with a 3-day history of headache, cough productive and dyspnea. Positive findings on physical examination included heart sounds in the right side of his chest and pain on palpation and percussion of the
Rodolfo Mendes Queiroz   +1 more
openaire   +3 more sources

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