Jake P. Mann
YOU?
Author Swipe
View article: Meta‐Analysis: Effects of Steatotic Liver Disease‐Associated Genetic Risk Alleles on Longitudinal Outcomes
Meta‐Analysis: Effects of Steatotic Liver Disease‐Associated Genetic Risk Alleles on Longitudinal Outcomes Open
Background Genetic variants associated with risk of steatotic liver disease (SLD) may also influence clinical events. Aims To perform a systematic review and meta‐analysis to determine the impact of SLD‐associated genetic variants on hepat…
Evaluation of Candidate “Kill or Cure” Strategies to Treat MFN2-related Lipodystrophy Open
The R707W mutation in mitofusin 2, encoded by MFN2, causes a form of Multiple Symmetrical Lipomatosis (MFN2-MSL). This resembles sporadic, alcohol-associated MSL, combining loss of lower body adipose tissue with upper body adipose hyperpla…
Loss of Mfn1 but not Mfn2 enhances adipogenesis Open
Objective A biallelic missense mutation in mitofusin 2 ( MFN2 ) causes multiple symmetric lipomatosis and partial lipodystrophy, implicating disruption of mitochondrial fusion or interaction with other organelles in adipocyte differentiati…
View article: Noninvasive scores are poorly predictive of histological fibrosis in paediatric fatty liver disease
Noninvasive scores are poorly predictive of histological fibrosis in paediatric fatty liver disease Open
Objectives Nonalcoholic fatty liver disease (NAFLD) is the most common chronic liver disease in children. Roughly a quarter of paediatric patients with NAFLD develop nonalcoholic steatohepatitis and fibrosis. Here, we evaluated the diagnos…
A Case Report of Steroid-Induced Angioedema and Urticaria Open
Physicians regularly use corticosteroids to treat various conditions, attributing their anti-inflammatory and immunosuppressive properties. Cases of allergic sensitivity reactions and dermatitis induced by corticosteroids are relatively un…
A mouse model of human mitofusin-2-related lipodystrophy exhibits adipose-specific mitochondrial stress and reduced leptin secretion Open
Mitochondrial dysfunction has been reported in obesity and insulin resistance, but primary genetic mitochondrial dysfunction is generally not associated with these, arguing against a straightforward causal relationship. A rare exception, r…
Lipid droplets as the genetic nexus of fatty liver Open
Non-alcoholic fatty liver disease (NAFLD) has become the leading cause of liver damage worldwide and is rapidly becoming the leading cause of end-stage liver disease in the USA. The main trigger of fatty liver is metabolic dysfunction, but…
Loss of <i>Mfn1</i> but not <i>Mfn2</i> enhances adipogenesis Open
Objective A biallelic missense mutation in mitofusin 2 ( MFN2 ) causes multiple symmetric lipomatosis and partial lipodystrophy, implicating disruption of mitochondrial fusion or interaction with other organelles in adipocyte differentiati…
A mouse model of human mitofusin 2-related lipodystrophy exhibits adipose-specific mitochondrial stress and reduced leptin secretion Open
Mitochondrial dysfunction has been reported in obesity and insulin resistance, but primary genetic mitochondrial dysfunction is generally not associated with these, arguing against a straightforward causal relationship. A rare exception, r…
Reply Open
We read with great interest the manuscript from Struwe et al.[1] and their insightful comment on our recent article.[2] Their X-ray crystallography studies on mARC1 (encoded by MTARC1) illustrate two important general points: the limitatio…
A minority of somatically mutated genes in pre‐existing fatty liver disease have prognostic importance in the development of <span>NAFLD</span> Open
Background Understanding the genetics of liver disease has the potential to facilitate clinical risk stratification. We recently identified acquired somatic mutations in six genes and one lncRNA in pre‐existing fatty liver disease. We hypo…
View article: Variants in mitochondrial amidoxime reducing component 1 and hydroxysteroid 17‐beta dehydrogenase 13 reduce severity of nonalcoholic fatty liver disease in children and suppress fibrotic pathways through distinct mechanisms
Variants in mitochondrial amidoxime reducing component 1 and hydroxysteroid 17‐beta dehydrogenase 13 reduce severity of nonalcoholic fatty liver disease in children and suppress fibrotic pathways through distinct mechanisms Open
Genome‐wide association studies in adults have identified variants in hydroxysteroid 17‐beta dehydrogenase 13 ( HSD17B13 ) and mitochondrial amidoxime reducing component 1 ( MTARC1 ) as protective against nonalcoholic fatty liver disease (…
View article: Comparison of the Lipidomic Signature of Fatty Liver in Children and Adults
Comparison of the Lipidomic Signature of Fatty Liver in Children and Adults Open
Objective: Non‐alcoholic fatty liver disease (NAFLD) is an increasingly common condition in children characterised by insulin resistance and altered lipid metabolism. Affected patients are at increased risk of cardiovascular disease (CVD) …
Somatically mutated genes in fatty liver disease have minimal influence on germline risk Open
Background Understanding the genetics of liver disease has the potential to facilitate clinical risk stratification. We recently identified six genes and one lncRNA enriched for acquired somatic mutations in patients with NAFLD and alcohol…
A Systematic Review of Animal Models of NAFLD Finds High‐Fat, High‐Fructose Diets Most Closely Resemble Human NAFLD Open
Background and Aims Animal models of human disease are a key component of translational hepatology research, yet there is no consensus on which model is optimal for NAFLD. Approach and Results We generated a database of 3,920 rodent models…
NAFLD Animal Models database Open
Raw dataset from systematic review of animal models of NAFLD. This data also contributed to this publication: https://doi.org/10.7554/eLife.56573 ('Weight loss, insulin resistance, and study design confound results in a meta-analysis of an…
A systematic analysis of rodent models implicates adipogenesis and innate immunity in pathogenesis of fatty liver disease Open
Summary Animal models of human disease are a key component of translational research and yet there is often no consensus on which model is optimal for a particular disease. Here, we generated a database of 3,920 rodent models of non-alcoho…
Hospital admission with non-alcoholic fatty liver disease is associated with increased all-cause mortality independent of cardiovascular risk factors Open
Non-alcoholic fatty liver disease (NAFLD) is common and strongly associated with the metabolic syndrome. Though NAFLD may progress to end-stage liver disease, the top cause of mortality in NAFLD is cardiovascular disease (CVD). Most of the…
Weight loss, insulin resistance, and study design confound results in a meta-analysis of animal models of fatty liver Open
The classical drug development pipeline necessitates studies using animal models of human disease to gauge future efficacy in humans, however there is a low conversion rate from success in animals to humans. Non-alcoholic fatty liver disea…
Author response: Weight loss, insulin resistance, and study design confound results in a meta-analysis of animal models of fatty liver Open
Article Figures and data Abstract eLife digest Introduction Results Discussion Materials and methods Data availability References Decision letter Author response Article and author information Metrics Abstract The classical drug developmen…
Insights into genetic variants associated with NASH-fibrosis from metabolite profiling Open
Several genetic discoveries robustly implicate five single-nucleotide variants in the progression of non-alcoholic fatty liver disease to non-alcoholic steatohepatitis and fibrosis (NASH-fibrosis), including a recently identified variant i…
Variants in <i>MARC1</i> and <i>HSD17B13</i> reduce severity of NAFLD in children, perturb phospholipid metabolism, and suppress fibrotic pathways Open
Background & aims Genome-wide association studies in adults have identified variants in HSD17B13 and MARC1 as protective against NAFLD. It is not known if they are similarly protective in children and, more generally, whether the peri-port…