Publications by authors named "Nicholas J Hand"

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G4mer: An RNA language model for transcriptome-wide identification of G-quadruplexes and disease variants from population-scale genetic data.
Farica Zhuang, Danielle Gutman, Nathaniel Islas, Bryan B Guzman, Alli Jimenez, Nicholas J Hand

Nat Commun· November 2025

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is a metabolic switch that shifts hepatic energy storage from lipid to glycogen.
Kate Townsend Creasy, Minal B Mehta, Carolin V Schneider, Joseph Park, David Zhang, Nicholas J Hand

Sci Adv· May 2025

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Deep metabolic phenotyping of humans with protein-altering variants in using a genome-first approach.
Helen Ye Rim Huang, Cecilia Vitali, David Zhang, Nicholas J Hand, Michael C Phillips

JHEP Rep· January 2025

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A Nutraceutical Mechanistic Model Receives a Gut Check.
Nicholas J Hand

Cell Mol Gastroenterol Hepatol· April 2024

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A missense variant in human perilipin 2 ( Ser251Pro) reduces hepatic steatosis in mice.
Eleonora Scorletti, Yedidya Saiman, Sookyoung Jeon, Carolin V Schneider, Delfin G Buyco, Nicholas J Hand

JHEP Rep· January 2024

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Comparison of the structure-function properties of wild-type human apoA-V and a C-terminal truncation associated with elevated plasma triglycerides.
Sylvia Stankov, Cecilia Vitali, Joseph Park, David Nguyen, Leland Mayne, Nicholas J Hand

medRxiv· February 2023

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ILRUN Promotes Atherosclerosis Through Lipid-Dependent and Lipid-Independent Factors.
Xin Bi, Sylvia Stankov, Paul C Lee, Ziyi Wang, Xun Wu, Nicholas J Hand

Arterioscler Thromb Vasc Biol· September 2022

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A multiancestry genome-wide association study of unexplained chronic ALT elevation as a proxy for nonalcoholic fatty liver disease with histological and radiological validation.
Marijana Vujkovic, Shweta Ramdas, Kim M Lorenz, Xiuqing Guo, Rebecca Darlay, Nicholas J Hand

Nat Genet· June 2022

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Defective Lipid Droplet-Lysosome Interaction Causes Fatty Liver Disease as Evidenced by Human Mutations in TMEM199 and CCDC115.
Lars E Larsen, Marjolein A W van den Boogert, Wilson A Rios-Ocampo, Jos C Jansen, Donna Conlon, Nicholas J Hand

Cell Mol Gastroenterol Hepatol· April 2022

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Sortilin restricts secretion of apolipoprotein B-100 by hepatocytes under stressed but not basal conditions.
Donna M Conlon, Carolin V Schneider, Yi-An Ko, Amrith Rodrigues, Kathy Guo, Nicholas J Hand

J Clin Invest· March 2022

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TRIB1 regulates LDL metabolism through CEBPα-mediated effects on the LDL receptor in hepatocytes.
Katherine Quiroz-Figueroa, Cecilia Vitali, Donna M Conlon, John S Millar, John W Tobias, Nicholas J Hand

J Clin Invest· November 2021

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Bi-allelic variants in the ER quality-control mannosidase gene EDEM3 cause a congenital disorder of glycosylation.
Daniel L Polla, Andrew C Edmondson, Sandrine Duvet, Michael E March, Ana Berta Sousa, Nicholas J Hand

Am J Hum Genet· July 2021

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Lipid droplet screen in human hepatocytes identifies TRRAP as a regulator of cellular triglyceride metabolism.
Deepti Abbey, Donna Conlon, Christopher Rainville, Susannah Elwyn, Katherine Quiroz-Figueroa, Nicholas J Hand

Clin Transl Sci· July 2021

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Nuclear receptors FXR and SHP regulate protein N-glycan modifications in the liver.
Bhoomika Mathur, Asif Shajahan, Waqar Arif, Qiushi Chen, Nicholas J Hand

Sci Adv· April 2021

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, a Human Plasma Lipid GWAS Locus, Regulates Lipoprotein Metabolism in Mice.
Xin Bi, Takashi Kuwano, Paul C Lee, John S Millar, Li Li, Nicholas J Hand

Circ Res· November 2020

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Self-Organizing Human Induced Pluripotent Stem Cell Hepatocyte 3D Organoids Inform the Biology of the Pleiotropic Gene.
Deepti Abbey, Susannah Elwyn, Nicholas J Hand, Kiran Musunuru, Daniel J Rader

Hepatol Commun· September 2020

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Hepatocyte-like cells derived from induced pluripotent stem cells: A versatile tool to understand lipid disorders.
Lars E Larsen, Mikhaila A Smith, Deepti Abbey, Amber Korn, Laurens F Reeskamp, Nicholas J Hand

Atherosclerosis· June 2020

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Systematically Sifting Big Data to Identify Novel Causal Genes for Human Traits.
Nicholas J Hand, Daniel J Rader

Cell Metab· April 2020

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N-Glycosylation Defects in Humans Lower Low-Density Lipoprotein Cholesterol Through Increased Low-Density Lipoprotein Receptor Expression.
Marjolein A W van den Boogert, Lars E Larsen, Lubna Ali, Sacha D Kuil, Patrick L W Chong, Nicholas J Hand

Circulation· July 2019

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Genetic and Epigenetic Fine Mapping of Complex Trait Associated Loci in the Human Liver.
Minal Çalışkan, Elisabetta Manduchi, H Shanker Rao, Julian A Segert, Marcia Holsbach Beltrame, Nicholas J Hand

Am J Hum Genet· July 2019

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Zinc transporter Slc39a8 is essential for cardiac ventricular compaction.
Wen Lin, Deqiang Li, Lan Cheng, Li Li, Feiyan Liu, Nicholas J Hand

J Clin Invest· February 2018

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Fine Mapping and Functional Analysis Reveal a Role of SLC22A1 in Acylcarnitine Transport.
Hye In Kim, Johannes Raffler, Wenyun Lu, Jung-Jin Lee, Deepti Abbey, Nicholas J Hand

Am J Hum Genet· October 2017

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Hepatic protein phosphatase 1 regulatory subunit 3B (Ppp1r3b) promotes hepatic glycogen synthesis and thereby regulates fasting energy homeostasis.
Minal B Mehta, Swapnil V Shewale, Raymond N Sequeira, John S Millar, Nicholas J Hand

J Biol Chem· June 2017

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Hepatic metal ion transporter ZIP8 regulates manganese homeostasis and manganese-dependent enzyme activity.
Wen Lin, David R Vann, Paschalis-Thomas Doulias, Tao Wang, Gavin Landesberg, Nicholas J Hand

J Clin Invest· June 2017

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MicroRNA-122 regulates polyploidization in the murine liver.
Shu-Hao Hsu, Evan R Delgado, P Anthony Otero, Kun-Yu Teng, Huban Kutay, Nicholas J Hand

Hepatology· August 2016

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