Mouse Systems Genetics as a Prelude to Precision Medicine

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Immune checkpoint blockade (ICB) with PD-1 or PD-L1 antibodies has been approved for the treatment of nonsmall cell lung cancer (NSCLC). However, only a minority of patients respond, and sustained remissions are rare. Both chemotherapy and antiangiogenic d ...

Liquid-liquid phase separation (LLPS) of proteins and RNAs has emerged as the driving force underlying the formation of membrane-less organelles. Such biomolecular condensates have various biological functions and have been linked to disease. The protein F ...

SIRT7 is a NAD(+)-dependent deacetylase that controls important aspects of metabolism, cancer, and bone formation. However, the molecular targets and functions of SIRT7 in the kidney are currently unknown. In silico analysis of kidney transcripts of the BX ...

Spinal muscular atrophy (SMA) is a neuromuscular disorder affecting young children. While pre-clinical models of SMA show small spleens, the same is not true in humans. Here, we show by doppler ultrasonography decreased splenic blood flow in Smn(2B/-) mice ...

Genotype imputation is a fundamental step in genomic data analysis, where missing variant genotypes are predicted using the existing genotypes of nearby "tag"variants. Although researchers can outsource genotype imputation, privacy concerns may prohibit ge ...

Background Alzheimer's disease (AD) is a complex disorder caused by a combination of genetic and non-genetic risk factors. In addition, an increasing evidence suggests that epigenetic mechanisms also accompany AD. Genetic and epigenetic factors are not ind ...

Aims B cell functions in the process of atherogenesis have been investigated but several aspects remain to be clarified. ...

Mood disorders, in particular depression, are a major burden of our society. Due to the poor knowledge of the biological basis of these diseases, classification remains based on arbitrary symptomatic parameters. As a result, the existing pharmacological tr ...

Background: There is increasing evidence that Parkinson's disease (PD) might start in the gut, thus involving and compromising also the enteric nervous system (ENS). At the clinical onset of the disease the majority of dopaminergic neurons in the midbrain ...

The temporal coordination of events at cellular and tissue scales is essential for the proper development of organisms, and involves cell-intrinsic processes that can be coupled by local cellular signalling and instructed by global signalling, thereby crea ...

Mycobacterium tuberculosis, the etiologic agent of human tuberculosis, is the world's leading cause of death from an infectious disease. One of the main features of this pathogen is the complex and dynamic lipid composition of the cell envelope, which adap ...

Overweight and obesity are increasingly common public health issues worldwide, leading to a wide range of diseases from metabolic syndrome to steatohepatitis and cardiovascular diseases. While the increase in the prevalence of obesity is partly attributabl ...

Viral delivery of exogenous coding sequences into the inner ear has the potential for therapeutic benefit for patients suffering genetic or acquired hearing loss. To devise improved strategies for viral delivery, we investigated two injection techniques, r ...

Creatine is an organic compound used as fast phosphate energy buffer to recycle ATP, important in tissues with high energy demand such as muscle or brain. Creatine is taken from the diet or endogenously synthetized by the enzymes AGAT and GAMT, and specifi ...

Inherited retinal diseases (IRDs) form a group of diverse disorders that lead to the degeneration of the light-sensing cells of the retina: the photoreceptors. IRDs are among the leading causes of blindness in working-age adults living in industrialized co ...

How lifespan and body weight vary as a function of diet and genetic differences is not well understood. Here we quantify the impact of differences in diet on lifespan in a genetically diverse family of female mice, split into matched isogenic cohorts fed a ...

Mitochondria are highly dynamics organelles that undergo coordinated cycles of fission and fusion, referred to as mitochondrial dynamics. Mitochondrial dynamics regulate mitochondrial bioenergetics and allow cells to adapt to changing cellular stresses and ...

Mouse Systems Genetics as a Prelude to Precision Medicine

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Overcoming microenvironmental resistance to PD-1 blockade in genetically engineered lung cancer models

The phase separation-dependent FUS interactome reveals nuclear and cytoplasmic function of liquid-liquid phase separation

SIRT7 modulates the stability and activity of the renal K-Cl cotransporter KCC4 through deacetylation

Blood Flow to the Spleen is Altered in a Mouse Model of Spinal Muscular Atrophy

Ultrafast homomorphic encryption models enable secure outsourcing of genotype imputation

Comprehensive analysis of PM20D1 QTL in Alzheimer's disease

Follicular regulatory helper T cells control the response of regulatory B cells to a high-cholesterol diet

Study of brain metabolic dysfunctions in animal models of mood disorder using magnetic resonance spectroscopy

Parkinson mice show functional and molecular changes in the gut long before motoric disease onset

Towards a physical understanding of developmental patterning

FasR Regulates Fatty Acid Biosynthesis and Is Essential for Virulence of Mycobacterium tuberculosis

Genetic, metabolic, and molecular insights into the diverse outcomes of diet-induced obesity in mouse

Efficient viral transduction in mouse inner ear hair cells with utricle injection and AAV9-PHP.B

A new rat model of creatine transporter deficiency reveals behavioral disorder and altered brain metabolism

In vivo evaluation of gene editing and prosthetic strategies to restore vision in small and large animal models of retinal degeneration

Gene-by-environment modulation of lifespan and weight gain in the murine BXD family

Crosstalk between Drp1 phosphorylation sites during mitochondrial dynamics and metabolic adaptation