Cardiac MRI reveals myocardial fibrosis and systolic dysfunction in mitochondrial trifunctional protein-deficient mice [0.03%]
心肌MRI显示线粒体三功能蛋白缺陷型小鼠存在心肌纤维化和收缩功能障碍
Eduardo Vieira Neto,Shakuntala Basu,Thomas J Becker-Szurszewski et al.
Eduardo Vieira Neto et al.
Cardiomyopathy is an important manifestation in patients with fatty acid oxidation disorders and represents a major cause of morbidity and early mortality in mitochondrial trifunctional protein (TFP) deficiency. Although a mouse model carry...
An improved SMS p.Gly56Ser mouse model of Snyder-Robinson syndrome reveals phenotypic parallels with clinical features [0.03%]
改善的SMS p.Gly56Ser小鼠模型揭示了Snyder-Robbins综合征的表型与临床特征之间的相似性
Tracy Murray Stewart,Saurabh Tata,Pierre-Alexandre Piec et al.
Tracy Murray Stewart et al.
Snyder-Robinson syndrome (SRS), a rare X-linked disorder caused by pathogenic variants in spermine synthase (SMS), results in spermine deficiency and excessive spermidine accumulation. Previously reported mouse models exhibited reduced birt...
Progressive impairment of bioengineered skeletal muscles by MASLD-derived factors: a platform to model liver-induced muscle wasting [0.03%]
MASLD衍生因子对生物工程化骨骼肌的进行性损伤：一种模拟肝源性肌肉减少症的平台
Armando Cortés-Reséndiz,Juan M Fernández-Costa,Maria Sabater-Arcís et al.
Armando Cortés-Reséndiz et al.
Metabolic dysfunction-associated steatotic liver disease (MASLD) affects >30% of the global population and is rising to become the most common liver disorder. MASLD can influence distal organs via secreted mediators, and up to 43% of patien...
Binding of RAS to PI3Kα regulates developmental and KRASG12D-induced lymphangiogenesis [0.03%]
RAS与PI3Kα的结合调控发育和KRASG12D诱导的淋巴管新生
Lorenzo M Fernandes,Jeffrey Tresemer,Angelica Vallejo et al.
Lorenzo M Fernandes et al.
Complex lymphatic anomalies (CLAs) are rare diseases characterized by the abnormal development of lymphatic vessels. CLAs can be caused by somatic activating mutations in KRAS (e.g., KrasG12D), which stimulate MAPK and PI3K signaling. While...
Cell death analysis of inducible, titratable neurodegenerative disease models in zebrafish and human stem cell-derived retinal organoids [0.03%]
斑马鱼和人诱导多能干细胞来源视网膜类器官中可诱导的、剂量滴定型神经退行性疾病模型中的细胞死亡分析
Anneliese Ceisel,Gianna Graziano,Kevin Emmerich et al.
Anneliese Ceisel et al.
Inducible disease models enable large-scale screening by providing control over pathology onset, such as cell death in neurodegenerative disease. The nitroreductase (NTR)/prodrug system of cell ablation has facilitated investigations of cel...
CSF1R-related leukoencephalopathy: experimental models and potential for treatment [0.03%]
CSF1R相关的白质脑病：实验模型及治疗潜力
David A Hume,Katharine M Irvine
David A Hume
Dominant and recessive mutations in the human CSF1R gene are associated with microglial deficiency in the brain and severe neurodegenerative disease, known as CSF1R-related leukoencephalopathy (CRL). Dominant and recessive Csf1r mutations h...
Charcot-Marie-Tooth mutations of HSPB1 progressively alter neuromuscular signalling in Caenorhabditis elegans [0.03%]
HSPB1的Charcot-Marie-Tooth突变体在秀丽杆线虫中逐渐改变神经肌肉信号转导
Iman Aolymat,Jeff W Barclay
Iman Aolymat
Autosomal dominant mutations in HSPB1 can cause type 2 Charcot-Marie-Tooth disease, a progressive neuromuscular disorder. HSPB1 is a small, ATP-independent chaperone that functions in protein folding, stabilisation and stress protection as ...
Systemic and cardiac pathology induced by a clinically relevant USP8 activating mutation [0.03%]
由临床相关的USP8活化突变诱导的系统性和心脏病理学
Tamara González-Costa,Abel Galicia-Martín,Daniel Calle et al.
Tamara González-Costa et al.
Cushing's disease (CD), the most common endogenous Cushing's syndrome, is caused by activating mutations in the ubiquitin-specific protease 8 (USP8) gene. These mutations drive adrenocorticotropic hormone (ACTH)-secreting pituitary adenomas...
Kirsty Hooper
Kirsty Hooper
Gut-derived Unpaired-3 cytokine signaling promotes systemic hypoxia tolerance in Drosophila [0.03%]
肠道衍生的Unpaired-3细胞因子信号促进果蝇全身缺氧耐受性
Kate Ding,Prajakta Bodkhe,Byoungchun Lee et al.
Kate Ding et al.
Systemic hypoxia - a reduction in oxygen supply to all tissues and organs - occurs in many physiological and pathological conditions, including fetal development, high altitude exposure, and disorders such as sleep apnea and respiratory dis...