Xiaomi Du

Adipose tissue macrophage-derived miR-690 modulates adipocyte precursor cell maintenance and adipogenesis

Karina Cunha e Rocha, Breanna Tan, Julia Kempf, Cristina Medina et autres

Obesity is intricately linked to various metabolic diseases; however, some individuals maintain metabolic health despite being classified as obese. A critical factor underlying this paradox is the expansion of white adipose tissue (WAT), which can occur through two mechanisms: hypertrophy (the enlargement …

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An alternatively translated isoform of PPARG proposes AF-1 domain inhibition as an insulin sensitization target

Xiaomi Du, Karen Mendez-Lara, Siqi Hu, Rachel Y. Diao et autres

PPARγ is the pharmacological target of thiazolidinediones (TZDs), potent insulin sensitizers that prevent metabolic disease morbidity but are accompanied by side effects such as weight gain, in part due to non-physiological transcriptional agonism. Using high throughput genome engineering, we targeted nonsense mutations …

An Alternatively Translated Isoform of PPARG Suggests AF-1 Domain Inhibition as an Insulin Sensitization Target

Xiaomi Du, Karen Alejandra Méndez‐Lara, Siqi Hu, Rachel Y. Diao et autres

Peroxisome proliferator–activated receptor γ (PPARγ) is the pharmacologic target of thiazolidinediones, potent insulin sensitizers that prevent metabolic disease morbidity but are accompanied by adverse effects, such as weight gain, in part because of nonphysiologic transcriptional agonism. Using high-throughput genome engineering, we targeted …

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An alternatively translated isoform of PPARG proposes AF-1 domain inhibition as an insulin sensitization target

Xiaomi Du, Karen Mendez-Lara, Siqi Hu, Rachel Y. Diao et autres

PPARγ is the pharmacological target of thiazolidinediones (TZDs), potent insulin sensitizers that prevent metabolic disease morbidity but are accompanied by side effects such as weight gain, in part due to non-physiological transcriptional agonism. Using high throughput genome engineering, we targeted nonsense mutations …

284-OR: An Alternative Downstream Translational Start Site in PPARG Produces a Novel Protein That Rescues Loss-of-Function Mutations in Humans

KAREN MENDEZ LARA, Xiaomi Du, Kimberly Glass, RUBEN HERNANDEZ et autres

PPARG is the target of thiazolidinediones (TZD) and plays a central role in glucose and lipid metabolism. Loss-of-function (LOF) mutations in PPARG increase the risk of type 2 diabetes (T2D) and cause Mendelian lipodystrophy. In population-scale sequencing studies, we identified protein-truncating variants …

Human gain-of-function variants in HNF1A confer protection from diabetes but independently increase hepatic secretion of atherogenic lipoproteins

Natalie DeForest, B Kavitha, Siqi Hu, Roi Isaac et autres

Loss-of-function mutations in hepatocyte nuclear factor 1A (HNF1A) are known to cause rare forms of diabetes and alter hepatic physiology through unclear mechanisms. In the general population, 1:100 individuals carry a rare, protein-coding HNF1A variant, most of unknown functional consequence. To characterize …

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Dissection of multiple sclerosis genetics identifies B and CD4+ T cells as driver cell subsets

Michael H. Guo, Prashanth Sama, Brenna A. LaBarre, Hrishikesh Lokhande et autres

Abstract Background Multiple sclerosis (MS) is an autoimmune condition of the central nervous system with a well-characterized genetic background. Prior analyses of MS genetics have identified broad enrichments across peripheral immune cells, yet the driver immune subsets are unclear. Results We utilize …

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Human gain-of-function variants in HNF1A confer protection from diabetes but independently increase hepatic secretion of multiple cardiovascular disease risk factors

Natalie DeForest, B Kavitha, Siqi Hu, Roi Isaac et autres

Abstract Loss-of-function mutations in Hepatocyte Nuclear Factor 1A (HNF1A) are known to cause rare forms of diabetes and alter hepatic physiology through unclear mechanisms. In the general population, 1:100 individuals carry a rare protein-coding variant in HNF1A , most of unknown functional …

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Additional file 1 of Dissection of multiple sclerosis genetics identifies B and CD4+ T cells as driver cell subsets

Michael H. Guo, Prashanth Sama, Brenna A. LaBarre, Hrishikesh Lokhande et autres

Additional file 1: Supplementary Tables. Table S1. MS GWAS enrichment in 16 hematopoietic cell types. Table S2. MS GWAS enrichment of hematopoietic cell types in joint model. Table S3. MS GWAS pairwise enrichment in 16 hematopoietic cell types. Table S4. MS GWAS …

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Human Genetics to Identify Therapeutic Targets for NAFLD: Challenges and Opportunities

Xiaomi Du, Natalie DeForest, Amit R. Majithia

Non-alcoholic fatty liver disease (NAFLD) is a continuous progression of pathophysiologic stages that is challenging to diagnose due to its inherent heterogeneity and poor standardization across a wide variety of diagnostic measures. NAFLD is heritable, and several loci have been robustly associated …

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Dissection of multiple sclerosis genetics identifies B and CD4+ T cells as driver cell subsets

Michael H. Guo, Prashanth Sama, Brenna A. LaBarre, Hrishikesh Lokhande et autres

Abstract Multiple sclerosis (MS) is an autoimmune condition of the central nervous system with a well-characterized genetic background. Prior analyses of MS genetics have identified broad enrichments across peripheral immune cells, yet the driver immune subsets are unclear. We utilized chromatin accessibility …

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miR‐19b‐3p induces cell proliferation and reduces heterochromatin‐mediated senescence through PLZF in goat male germline stem cells

John Clotaire Daguia Zambe, Yuanxin Zhai, Zhe Zhou, Xiaomi Du et autres

Promyelocytic leukemia zinc finger PLZF, known as ZBTB16 or ZFP145 is a critical zinc finger protein of male germline stem cells (mGSCs), it's an essential transcriptional factor for goat testis development and spermatogenesis. Loss of PLZF results in progressive depletion of SSCs …

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