Fabrizio C. Serluca

sc-OTGM: Single-Cell Perturbation Modeling by Solving Optimal Mass Transport on the Manifold of Gaussian Mixtures

Andaç Demir, Elizaveta M. Solovyeva, James C. Boylan, Mei Xiao et autres

Influenced by breakthroughs in LLMs, single-cell foundation models are emerging. While these models show successful performance in cell type clustering, phenotype classification, and gene perturbation response prediction, it remains to be seen if a simpler model could achieve comparable or better results, …

Integrative Proteogenomics for Differential Expression and Splicing Variation in a DM1 Mouse Model

Elizaveta M. Solovyeva, Stephan Utzinger, Alexandra Vissières, Joanna Mitchelmore et autres

Dysregulated mRNA splicing is involved in the pathogenesis of many diseases including cancer, neurodegenerative diseases, and muscular dystrophies such as myotonic dystrophy type 1 (DM1). Comprehensive assessment of dysregulated splicing on the transcriptome and proteome level has been methodologically challenging, and thus …

ch, ru, us (code pays fourni par la source)

New insights into molecular changes in skeletal muscle aging and disease: Differential alternative splicing and senescence

Elizaveta M. Solovyeva, Chikwendu Ibebunjo, Stephan Utzinger, John K. Eash et autres

Progressive loss of muscle mass and function due to muscle fiber atrophy and loss in the elderly and chronically ill is now defined as sarcopenia. It is a major contributor to loss of independence, disability, need of long-term care as well as …

ru, ch (code pays fourni par la source)

Integrative proteogenomics for differential expression and splicing variation in a DM1 mouse model

Elizaveta M. Solovyeva, Stephan Utzinger, Alexandra Vissières, Joanna Mitchelmore et autres

Abstract Dysregulated mRNA splicing is involved in the pathogenesis of many diseases including cancer, neurodegenerative diseases, and muscular dystrophies such as myotonic dystrophy type 1 (DM1). Comprehensive assessment of dysregulated splicing on the transcriptome and proteome level has been methodologically challenging, and …

ch, ru (code pays fourni par la source)

Genetic Control of Collective Behavior in Zebrafish

Wenlong Tang, Jacob D. Davidson, Guoqiang Zhang, Katherine E. Conen et autres

Many animals, including humans, have evolved to live and move in groups. In humans, disrupted social interactions are a fundamental feature of many psychiatric disorders. However, we know little about how genes regulate social behavior. Zebrafish may serve as a powerful model …

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Predictive neural processing in adult zebrafish depends on shank3b

Kuo‐Hua Huang, Peter Rupprecht, Michael Schebesta, Fabrizio C. Serluca et autres

Summary Intelligent behavior requires a comparison between the predicted and the actual consequences of behavioral actions. According to the theory of predictive processing, this comparison relies on a neuronal error signal that reflects the mismatch between an internal prediction and sensory input. …

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Genetic architecture of collective behaviors in zebrafish

Wenlong Tang, Guoqiang Zhang, Fabrizio C. Serluca, Jingyao Li et autres

Abstract Collective behaviors of groups of animals, such as schooling and shoaling of fish, are central to species survival, but genes that regulate these activities are not known. Here we parsed collective behavior of groups of adult zebrafish using computer vision and …

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ALKALs are in vivo ligands for ALK family receptor tyrosine kinases in the neural crest and derived cells

Andrey Fadeev, Patricia Mendoza-García, Uwe Irion, Jikui Guan et autres

Significance Neuroblastoma is a pediatric tumor arising from the neural crest. Dysregulation of the receptor tyrosine kinase ALK has been linked to neuroblastoma, making it important to understand its function in native conditions. In zebrafish, a related receptor—Ltk—is also expressed in neural …

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ALKALs are in vivo ligands for ALK family Receptor Tyrosine Kinases in the neural crest and derived cells

Andrey Fadeev, Patricia Mendoza Garcia, Uwe Irion, Jikui Guan et autres

Abstract Mutations in Anaplastic Lymphoma Kinase (ALK) are implicated in somatic and familial neuroblastoma, a paediatric tumour of neural crest-derived tissues. Recently, biochemical analyses have identified secreted small ALKAL proteins (FAM150, AUG) as potential ligands for human ALK and the related Leukocyte …

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Mutations in TRAF3IP1/IFT54 reveal a new role for IFT proteins in microtubule stabilization

Albane A. Bizet, Anita Becker-Heck, Rebecca Ryan, Kristina L. Weber et autres

Ciliopathies are a large group of clinically and genetically heterogeneous disorders caused by defects in primary cilia. Here we identified mutations in TRAF3IP1 (TNF Receptor-Associated Factor Interacting Protein 1) in eight patients from five families with nephronophthisis (NPH) and retinal degeneration, two …

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Identification of human mutations in TRAF3IP1 in patients with nephronophthisis and retinal degeneration

Anita Becker-Heck, Albane A. Bizet, Rebecca Ryan, Pauline Krug et autres

ch, fr, us (code pays fourni par la source)

The Biology and Management of the Zebrafish

Michael Y. Esmail, Keith M. Astrofsky, Christian Lawrence, Fabrizio C. Serluca

us (code pays fourni par la source)