Results 81 to 90 of about 2,523,567 (168)
Ecology and Evolution, Volume 16, Issue 8, August 2026.ABSTRACT Roads are a major source of landscape fragmentation that can influence movement patterns, survival, and behavioral states of carnivore species. Understanding their behavior and response to roads is crucial for developing effective mitigation strategies such as wildlife crossing structures, exclusion fencing, and habitat connectivity planning ...
Rupesh Maharjan +8 more
wiley +1 more source
MedComm, Volume 7, Issue 8, August 2026.Inflammation in cardiovascular disease is a dynamic and context‐dependent network rather than a secondary response to injury. Mitochondrial danger signaling links metabolic stress to immune activation through TLR priming, NLRP3 inflammasome amplification, cGAS–STING signaling, and immunometabolic gating, providing a basis for more precise therapeutic ...
Jiaxiang Rong +8 more
wiley +1 more source
Nephron, 2019 Mutations in the CTNS gene encoding the lysosomal membrane cystine transporter cystinosin are the cause of cystinosis, an autosomal recessive lysosomal storage disease. More than 140 CTNS mutations have been reported worldwide. Recent studies have discovered that cystinosin exerts other key cellular functions beyond cystine transport such as regulation
David, Dries +7 more
openaire +2 more sources
Diagnostic challenge in a patient with nephropathic juvenile cystinosis: a case report
BMC Nephrology, 2017 Background Cystinosis is a rare autosomal recessive lysosomal disorder characterized by the accumulation of cystine in lysosomes. Cystinosis is much rarer in Asian than Caucasian populations. There are only 14 patients have with cystinosis alive in Japan.
Satomi Higashi +5 more
doaj +1 more source
BMC Medical Genetics, 2020 Background In Morocco, consanguinity rate is very high; which lead to an increase in the birth prevalence of infants with autosomal recessive disorders. Previously, it was difficult to diagnose rare autosomal recessive diseases.
Mouna Ouhenach +4 more
doaj +1 more source
Nlrp2 deletion ameliorates kidney damage in a mouse model of cystinosis
Frontiers in ImmunologyCystinosis is a rare autosomal recessive disorder caused by mutations in the CTNS gene that encodes cystinosin, a ubiquitous lysosomal cystine/H+ antiporter.
Marianna Nicoletta Rossi +13 more
doaj +1 more source
Comparison of differential gene expression of hot and cold thyroid nodules with primary epithelial cell culture models by investigation of co-regulated gene sets [PDF]
, 2006 Both autonomously functioning thyroid nodules (AFTNs) and cold thyroid nodules (CTNs) are characterized by an increased proliferation, however, they have opposite functional activities. Therefore, with the aim to further understand the distinct molecular
Krohn, Knut +8 more
core +1 more source
Comment on: “Neuropathic Cystinosis: A Rare Case Report”
مجله كليه طب الكنديThis letter to the editor provides commentary on a previously published case and highlights additional diagnostic and genetic considerations in cystinosis.
Ali Abdul Razzak Obaid +3 more
doaj +1 more source
Molecular based newborn screening in Germany: Follow-up for cystinosis
Molecular Genetics and Metabolism Reports, 2019 Background: Newborn screening (NBS) programs for treatable metabolic disorders have been enormously successful, but molecular-based screening has not been broadly implemented so far.
Katharina Hohenfellner +12 more
doaj +1 more source
Nephropathic cystinosis presenting with uveitis: Report of a “Can't See, Can't Pee” situation
Indian Journal of Pathology and Microbiology, 2019 Nephropathic cystinosis is a rare autosomal recessive lysosomal disease characterized by accumulation of pathognomonic cystine crystals in renal and other tissues of the body.
Smita Mary Matthai +4 more
doaj +1 more source