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期刊名:Disease models & mechanisms

缩写:DIS MODEL MECH

ISSN:1754-8403

e-ISSN:1754-8411

IF/分区:3.6/Q1

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共收录本刊相关文章索引2608
Clinical Trial Case Reports Meta-Analysis RCT Review Systematic Review
Classical Article Case Reports Clinical Study Clinical Trial Clinical Trial Protocol Comment Comparative Study Editorial Guideline Letter Meta-Analysis Multicenter Study Observational Study Randomized Controlled Trial Review Systematic Review
Esther B E Becker,Simone Mayer,Lena M Kutscher Esther B E Becker
Cerebellar organoids present promising tools for the modelling of human cerebellar development and diseases. As this young field grows, robust standards and transparent reporting practices are needed to ensure the reproducibility and utilit...
Andrew H Miller,Yeng Yang,Natalie Schmidt et al. Andrew H Miller et al.
Neurofibromatosis type 1 (NF1) is a neurogenetic disorder caused by loss of function mutations in the gene neurofibromin 1 (NF1). NF1 encodes neurofibromin, a multifunctional tumor suppressing protein that regulates Ras, cAMP, and dopamine ...
Jen-Jie Lee,Po-Nien Lu,Lynn Dukes-Rimsky et al. Jen-Jie Lee et al.
Optimal lysosomal function is essential for early tissue development. This is evidenced by the large number of inherited disorders, collectively called the lysosomal storage disorders (LSDs), caused by lysosomal dysfunction. While it is cle...
Chad VanSant-Webb,Jessye C Castro,Audrey Y Su et al. Chad VanSant-Webb et al.
The prevalence of hepatocellular carcinoma (HCC) is rising in parallel with increasing obesity and metabolic dysfunction-associated steatohepatitis (MASH). MicroRNAs are key post-transcriptional regulators of gene expression and are attract...
Sarah Mele,Joshua Millward,Long Nguyen et al. Sarah Mele et al.
Quantitative behavioural analysis is a powerful approach for linking genotype to phenotype, but many existing tools require specialised hardware, extensive preprocessing, or coding expertise. We present SAMBA (Segment Anything Model for Beh...
T D Shaw,H Lam,T S Dutt et al. T D Shaw et al.
Novel treatment strategies are urgently needed to combat Mycobacterium avium complex pulmonary disease (MAC-PD). Animal models are important for screening therapeutic strategies, but their ability to reproduce human-like immunopathology, an...
Bo Xiao,Maureen Mongan,Chia I Ko et al. Bo Xiao et al.
MAP3K1 is a multifunctional signaling kinase implicated in diverse biological processes. Although its Gain-of-Function (GoF) mutations contribute to multiple human diseases, including 46,XY disorders of sex development (DSDs), mechanistic s...
Helen L Molteni,Brandi Golden,Emily P Y Yu et al. Helen L Molteni et al.
The periderm is a transient epithelial layer with crucial roles in maintaining barrier integrity and preventing abnormal adhesions during midface development. Interferon regulatory factor 6 (IRF6) is a key genetic driver of periderm functio...
Jing-Fu Bao,Bao-Cheng Guo,Jia-Ju Mo et al. Jing-Fu Bao et al.
Uremic cardiomyopathy (UC) represents a leading cause of mortality in patients with chronic kidney disease (CKD), characterized by left ventricular hypertrophy (LVH) and fibrosis. The underlying mechanisms of UC pathogenesis remain incomple...
Tao Wang,Cynthia Daoud,Auriane Dubois et al. Tao Wang et al.
Pathogenic variants in the dystrophin (DMD) gene cause muscle-wasting disorders ranging from the milder Becker muscular dystrophy (BMD) to the more severe Duchenne muscular dystrophy (DMD). Exon 45 deletion is the most frequent single-exon ...