Nature Search

Copper Toxicity and Lipid Peroxidation in Isolated Rat Hepatocytes: Effect of Vitamin E

Ronald J Sokol
Michael W Devereaux
Robert H Shikes
Research01 Jan 1989
Pediatric Research

Volume: 25, P: 55-62
Ataxia with isolated vitamin E deficiency is caused by mutations in the α–tocopherol transfer protein

Karim Ouahchi
Makoto Arita
Michel Koenig
Research01 Feb 1995
Nature Genetics

Volume: 9, P: 141-145
Exploring penetrance of clinically relevant variants in over 800,000 humans from the Genome Aggregation Database

Here the authors provide an explanation for 95% of examined predicted loss of function variants found in disease-associated haploinsufficient genes in the Genome Aggregation Database (gnomAD), underscoring the power of the presented analysis to minimize false assignments of disease risk.

Sanna Gudmundsson
Moriel Singer-Berk
Anne O’Donnell-Luria
ResearchOpen Access31 Oct 2025
Nature Communications

Volume: 16, P: 1-14
ELEVATED SERUM MANGANESE (Mn) IN TOTAL PARENTERAL NUTRITION (TPN) CHOLESTATIC LIVER DISEASE

K Michael Hambidge
Clare E Casey
Sara J Fldanza
Research01 Apr 1987
Pediatric Research

Volume: 21, P: 269
718 ABNORMALITIES IN FAT-SOLUBLE VITAMIN STATUS AT THE TIME OF DIAGNOSIS IN INFANTS WITH CYSTIC FIBROSIS IDENTIFIED BY NEWBORN SCREEN

Mary C Reardon
Keith B Hammond
Ronald J Sokol
Research01 Apr 1985
Pediatric Research

Volume: 19, P: 230
INTESTINAL ADAPTATION DURING LACTATION IN THE MOUSE: ENHANCED UPTAKE OF DIETARY PROTEIN ANTIGEN

Paul R Harroatz
Donald Hanson
W Allan Walker
Research01 Apr 1987
Pediatric Research

Volume: 21, P: 269
Limited Maternal Fuel Availability due to Hyperinsulinemia Retards Fetal Growth and Development in the Rat

Edward S Ogata
Ogata Ronald
Sandra L Finley
Research01 Oct 1987
Pediatric Research

Volume: 22, P: 432-437
730 TREATMENT OF VITAMIN E DEFICIENCY IN CHRONIC CHILDHOOD CHOLESTASIS WITH ORAL d-α-TOCOPHERYL POLYETHYLENE GLYCOL-1000 SUCCINATE (TPGS)

Ronald J Sokol
Nancy A Butler-Simon
Arnold Silverman
Research01 Apr 1985
Pediatric Research

Volume: 19, P: 232
Macrophage-derived IL-1β/NF-κB signaling mediates parenteral nutrition-associated cholestasis

The authors previously developed a mouse model of parenteral nutrition-associated cholestasis (PNAC) that is dependent on parenteral phytosterols and intestinal injury with DSS. Here they refine the model and show that PNAC pathology is dependent on recruitment of hepatic macrophages and IL-1 signaling.

Karim C. El Kasmi
Padade M. Vue
Ronald J. Sokol
ResearchOpen Access11 Apr 2018
Nature Communications

Volume: 9, P: 1-14
LKB1 (XEEK1) regulates Wnt signalling in vertebrate development

Olga Ossipova
Nabeel Bardeesy
Jeremy B. A. Green
Research14 Sept 2003
Nature Cell Biology

Volume: 5, P: 889-894
Mutations in TJP2 cause progressive cholestatic liver disease

Richard Thompson, Melissa Sambrotta and colleagues show that biallelic mutations in TJP2 cause severe cholestatic liver disease. Their findings suggest that loss of TJP2 protein disrupts the structural integrity of tight junctions in liver tissue, resulting in progressive liver damage.

Melissa Sambrotta
Sandra Strautnieks
Richard J Thompson
Research09 Mar 2014
Nature Genetics

Volume: 46, P: 326-328
Mechanisms of Disease: inborn errors of bile acid synthesis

Inborn errors of bile acid synthesis can present as neonatal cholestasis, neurologic disease or fat-soluble-vitamin deficiencies. In this Review, the authors discuss what we now know about the mechanisms underlying these disorders thanks to the application of modern biochemical and molecular techniques, the importance of early diagnosis, and the treatment options currently available.

Shikha S Sundaram
Kevin E Bove
Ronald J Sokol
Reviews24 Jun 2008
Nature Clinical Practice Gastroenterology & Hepatology

Volume: 5, P: 456-468
A genomic mutational constraint map using variation in 76,156 human genomes

A genomic constraint map for the human genome constructed using data from 76,156 human genomes from the Genome Aggregation Database shows that non-coding constrained regions are enriched for regulatory elements and variants associated with complex diseases and traits.

Siwei Chen
Laurent C. Francioli
Konrad J. Karczewski
Research06 Dec 2023
Nature

Volume: 625, P: 92-100
REVERSIBILITY OF VITAMIN E DEFICIENCY NEUROLOGIC SYNDROME DURING CHRONIC CHILDHOOD CHOLESTASIS

Ronald J Sokol
Mary A Guggenheim
James E Heubi
Research01 Apr 1984
Pediatric Research

Volume: 18, P: 213
Inferring compound heterozygosity from large-scale exome sequencing data

A strategy for inferring phase for rare variant pairs is applied to exome sequencing data for 125,748 individuals from the Genome Aggregation Database (gnomAD). This resource will aid interpretation of rare co-occurring variants in the context of recessive disease.

Michael H. Guo
Laurent C. Francioli
Kaitlin E. Samocha
Research06 Dec 2023
Nature Genetics

Volume: 56, P: 152-161
A structural variation reference for medical and population genetics

A large empirical assessment of sequence-resolved structural variants from 14,891 genomes across diverse global populations in the Genome Aggregation Database (gnomAD) provides a reference map for disease-association studies, population genetics, and diagnostic screening.

Ryan L. Collins
Harrison Brand
Michael E. Talkowski
ResearchOpen Access27 May 2020
Nature

Volume: 581, P: 444-451
The mutational constraint spectrum quantified from variation in 141,456 humans

A catalogue of predicted loss-of-function variants in 125,748 whole-exome and 15,708 whole-genome sequencing datasets from the Genome Aggregation Database (gnomAD) reveals the spectrum of mutational constraints that affect these human protein-coding genes.

Konrad J. Karczewski
Laurent C. Francioli
Daniel G. MacArthur
ResearchOpen Access27 May 2020
Nature

Volume: 581, P: 434-443
Characterising the loss-of-function impact of 5’ untranslated region variants in 15,708 individuals

Upstream open reading frames (uORFs), located in 5’ untranslated regions, are regulators of downstream protein translation. Here, Whiffin et al. use the genomes of 15,708 individuals in the Genome Aggregation Database (gnomAD) to systematically assess the deleteriousness of variants creating or disrupting uORFs.

Nicola Whiffin
Konrad J. Karczewski
James S. Ware
ResearchOpen Access27 May 2020
Nature Communications

Volume: 11, P: 1-12
Transcript expression-aware annotation improves rare variant interpretation

A novel variant annotation metric that quantifies the level of expression of genetic variants across tissues is validated in the Genome Aggregation Database (gnomAD) and is shown to improve rare variant interpretation.

Beryl B. Cummings
Konrad J. Karczewski
Daniel G. MacArthur
ResearchOpen Access27 May 2020
Nature

Volume: 581, P: 452-458
Landscape of multi-nucleotide variants in 125,748 human exomes and 15,708 genomes

Multi-nucleotide variants (MNV) are genetic variants in close proximity of each other on the same haplotype whose functional impact is difficult to predict if they reside in the same codon. Here, Wang et al. use the gnomAD dataset to assemble a catalogue of MNVs and estimate their global mutation rate.

Qingbo Wang
Emma Pierce-Hoffman
Daniel G. MacArthur
ResearchOpen Access27 May 2020
Nature Communications

Volume: 11, P: 1-13
Biliary Atresia Is Associated with CD4⁺ Th1 Cell–Mediated Portal Tract Inflammation

Cara L Mack
Rebecca M Tucker
Stephen D Miller
Research01 Jul 2004
Pediatric Research

Volume: 56, P: 79-87
Pharmacologic inhibition of HNF4α prevents parenteral nutrition associated cholestasis in mice

Swati Ghosh
Michael W. Devereaux
Ronald J. Sokol
ResearchOpen Access12 May 2023
Scientific Reports

Volume: 13, P: 1-17
Evaluating drug targets through human loss-of-function genetic variation

Analysis of predicted loss-of-function variants from 125,748 human exomes and 15,708 whole genomes in the Genome Aggregation Database (gnomAD) provides a roadmap for human ‘knockout’ studies and a guide for future research into disease biology and drug-target selection.

Eric Vallabh Minikel
Konrad J. Karczewski
Daniel G. MacArthur
ResearchOpen Access27 May 2020
Nature

Volume: 581, P: 459-464
Neonatal cholestasis: emerging molecular diagnostics and potential novel therapeutics

Neonatal cholestasis is a group of disorders of impaired bile flow characterized by conjugated hyperbilirubinaemia that can be fatal if not treated rapidly. In this Review, aetiologies, algorithms for evaluation and current and emerging therapeutic options for neonatal cholestasis are discussed.

Amy G. Feldman
Ronald J. Sokol
Reviews22 Mar 2019
Nature Reviews Gastroenterology & Hepatology

Volume: 16, P: 346-360
The effect of LRRK2 loss-of-function variants in humans

Analysis of large genomic datasets, including gnomAD, reveals that partial LRRK2 loss of function is not strongly associated with diseases, serving as an example of how human genetics can be leveraged for target validation in drug discovery.

Nicola Whiffin
Irina M. Armean
Daniel G. MacArthur
ResearchOpen Access27 May 2020
Nature Medicine

Volume: 26, P: 869-877
Role of Oxidant Stress in the Permeability Transition Induced in Rat Hepatic Mitochondria by Hydrophobic Bile Acids

Ronald J Sokol
Michael S Straka
Gregory Everson
Research01 Apr 2001
Pediatric Research

Volume: 49, P: 519-531
Unraveling the Pathogenesis and Etiology of Biliary Atresia

Cara L Mack
Ronald J Sokol
Research01 May 2005
Pediatric Research

Volume: 57, P: 87-94
β-Carotene Prevents Bile Acid-Induced Cytotoxicity in the Rat Hepatocyte: Evidence for an Antioxidant and Anti-Apoptotic Role of β-Carotene In Vitro

Eric Gumpricht
Rolf Dahl
Ronald J Sokol
Research01 May 2004
Pediatric Research

Volume: 55, P: 814-821
Author Correction: A genomic mutational constraint map using variation in 76,156 human genomes

Siwei Chen
Laurent C. Francioli
Konrad J. Karczewski
Amendments and Corrections15 Jan 2024
Nature

Volume: 626, P: E1
Author Correction: Characterising the loss-of-function impact of 5’ untranslated region variants in 15,708 individuals

Nicola Whiffin
Konrad J. Karczewski
James S. Ware
Amendments and CorrectionsOpen Access02 Feb 2021
Nature Communications

Volume: 12, P: 1
Author Correction: Transcript expression-aware annotation improves rare variant interpretation

Beryl B. Cummings
Konrad J. Karczewski
Daniel G. MacArthur
Amendments and CorrectionsOpen Access03 Feb 2021
Nature

Volume: 590, P: E54
Author Correction: Evaluating drug targets through human loss-of-function genetic variation

Eric Vallabh Minikel
Konrad J. Karczewski
Daniel G. MacArthur
Amendments and CorrectionsOpen Access03 Feb 2021
Nature

Volume: 590, P: E56
Author Correction: The effect of LRRK2 loss-of-function variants in humans

Nicola Whiffin
Irina M. Armean
Daniel G. MacArthur
Amendments and Corrections22 Jan 2021
Nature Medicine

Volume: 27, P: 355
Author Correction: A structural variation reference for medical and population genetics

Ryan L. Collins
Harrison Brand
Michael E. Talkowski
Amendments and CorrectionsOpen Access03 Feb 2021
Nature

Volume: 590, P: E55
α-Tocopherol Ameliorates Oxidant Injury in Isolated Copper-Overloaded Rat Hepatocytes

Ronald J Sokol
James M Mckim Jr.
Michael W Devereaux
Research01 Feb 1996
Pediatric Research

Volume: 39, P: 259-263
Resistance of Young Rat Hepatic Mitochondria to Bile Acid-Induced Permeability Transition: Potential Role of α-Tocopherol

Eric Gumpricht
Michael W Devereaux
Ronald J Sokol
Research01 Nov 2008
Pediatric Research

Volume: 64, P: 498-504
Effect of Oxypurinol, a Xanthine Oxidase Inhibitor, on Hepatic Injury in the Bile Duct-Ligated Rat

Ronald J Sokol
Michael W Devereaux
Rhashmi Khandwala
Research01 Sept 1998
Pediatric Research

Volume: 44, P: 397-401
Author Correction: The mutational constraint spectrum quantified from variation in 141,456 humans

Konrad J. Karczewski
Laurent C. Francioli
Daniel G. MacArthur
Amendments and CorrectionsOpen Access03 Feb 2021
Nature

Volume: 590, P: E53
Author Correction: Landscape of multi-nucleotide variants in 125,748 human exomes and 15,708 genomes

Qingbo Wang
Emma Pierce-Hoffman
Daniel G. MacArthur
Amendments and CorrectionsOpen Access02 Feb 2021
Nature Communications

Volume: 12, P: 1
Publisher Correction: Pharmacologic inhibition of HNF4α prevents parenteral nutrition associated cholestasis in mice

Swati Ghosh
Michael W. Devereaux
Ronald J. Sokol
Amendments and CorrectionsOpen Access19 Jul 2023
Scientific Reports

Volume: 13, P: 1-3
Timing of postnatal steroids for bronchopulmonary dysplasia: association with pulmonary and neurodevelopmental outcomes

Heidi M. Harmon
Erik A. Jensen
Elaine Romano
Research04 Feb 2020
Journal of Perinatology

Volume: 40, P: 616-627
Addendum: The mutational constraint spectrum quantified from variation in 141,456 humans

Sanna Gudmundsson
Konrad J. Karczewski
Daniel G. MacArthur
Amendments and CorrectionsOpen Access09 Aug 2021
Nature

Volume: 597, P: E3-E4
Inadequate oral feeding as a barrier to discharge in moderately preterm infants

Laura Edwards
C. Michael Cotten
William F. Malcolm
Research11 Jul 2019
Journal of Perinatology

Volume: 39, P: 1219-1228
Increased serum GM-CSF at diagnosis of biliary atresia is associated with improved biliary drainage

Sarah A. Taylor
Sanjiv Harpavat
Cara L. Mack
Research29 Jan 2025
Pediatric Research

Volume: 98, P: 1386-1394
High-dose IgG therapy mitigates bile duct–targeted inflammation and obstruction in a mouse model of biliary atresia

Erika K. Fenner
Juri Boguniewicz
Cara L. Mack
Research11 Apr 2014
Pediatric Research

Volume: 76, P: 72-80
Cortisol awakening response and developmental outcomes at 6–7 years in children born extremely preterm

Jean Lowe
Janell F. Fuller
Mary Johnson
Research17 Jun 2022
Pediatric Research

Volume: 93, P: 689-695

Search

Filter By:

Search

Quick links