Results 51 to 60 of about 101,369 (251)
Cracking the Code: Genotype–Phenotype Correlation Models in Sarcoglycanopathies
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Sarcoglycanopathies are among the most severe limb‐girdle muscular dystrophies (LGMD), though milder presentations have been described. These diseases are primarily caused by missense variants, but the limited predictability of their effect on protein maturation, complex formation, and transport has hindered reliable genotype ...
Leonela Luce +72 more
wiley +1 more source
CARBON FOOTPRINT IN THE ECONOMY AND ITS IMPACT ON THE ENVIRONMENT IN THE KYRGYZ REPUBLIC [PDF]
Vestnik Issyk-Kulʹskogo universitetaThe problem of climate change is now widely discussed by many specialists, scientists and politicians as requiring great efforts from many states. One of the recognized ways of its solution is the scenario of low-carbon economic development, which is ...
Karybaeva Ch. S. +2 more
doaj +1 more source
Sertraline Treatment Can Mimic Niemann‐Pick Type C Biomarker Profile: A Diagnostic Pitfall
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Background Oxysterols (cholestane‐3β,5α,6β‐triol and 7‐ketocholesterol) and N‐palmitoyl‐O‐phosphocholineserine (PPCS) are sensitive biomarkers for Niemann‐Pick disease type C (NPC) screening. However, false‐positive results occur, with a biomarker profile suggestive of NPC despite the absence of pathogenic variants in genes involved in NPC or ...
Maria Makrygianni +19 more
wiley +1 more source
Uncompensated claims to fair emission space risk putting Paris Agreement goals out of reach
Environmental Research Letters, 2023 Addressing questions of equitable contributions to emission reductions is important to facilitate ambitious global action on climate change within the ambit of the Paris Agreement.
Gaurav Ganti +6 more
doaj +1 more source
Clinical Impact of NOTCH3 Variant Location After First Stroke in CADASIL
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Despite its monogenic origin, Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy exhibits marked variability in clinical expression and severity. Variants in the NOTCH3 gene, within epidermal growth factor‐like repeat domains 1–6 or 7–34, are known to influence disease onset, but their impact ...
Léa Aguilhon +5 more
wiley +1 more source
Arthritis Care &Research, EarlyView.Objective This study assessed sarilumab in treating patients with polyarticular‐course juvenile idiopathic arthritis (pcJIA). Methods This phase 2b, open‐label study (NCT02776735) consisted of three sequential parts (each with a core‐treatment and extension phase).
Fabrizio De Benedetti +19 more
wiley +1 more source
Arthritis Care &Research, EarlyView.Objective Body mass index (BMI), glomerular filtration rate (GFR), and pretreatment urate levels have been reported to influence the urate‐lowering response to allopurinol. We investigated whether the fractional excretion of uric acid (FEUA) also modulates this response and relates to oxypurinol concentrations.
Pascal Richette +13 more
wiley +1 more source
Paris: Beyond the Climate Dead End through Pledge and Review?
Politics and Governance, 2016 The Paris Climate Agreement of December 2015 marks a decisive break from the unsuccessful Kyoto regime. Instead of targets and timetables, it established a Pledge and Review system, under which states will offer Nationally Determined Contributions (INDCs)
Robert O. Keohane, Michael Oppenheimer
doaj +1 more source
Arthritis Care &Research, EarlyView.Objective Somatic items used in depression assessments can potentially overlap with symptoms related to physical illness, including systemic sclerosis (SSc). No studies have looked at whether somatic depression items may be influenced by diffuse versus limited SSc disease subtypes, which are associated with varying degrees of symptom presentation.
Sophie Hu +110 more
wiley +1 more source
Reaching Agreement in Paris [PDF]
, 2019 Abstract The months leading to the Paris Agreement in 2015 were marked by a shift in the tone and substance of India’s approach to climate negotiations. A new government, elected in 2014, embarked on a series of steps that recast the country as a progressive element in negotiations, attempting to move it from obdurate negotiator to part ...
openaire +1 more source