Nature Search

Biochemical Studies in a Patient with Subacute Neuropathic Gaucher Disease without Visceral Glucosylceramide Storage

David A Wenger
Sandra Roth
M David Ullman
Research01 May 1983
Pediatric Research

Volume: 17, P: 344-348
Structure of bifunctional variediene synthase yields unique insight on biosynthetic diterpene assembly and cyclization

An unusual family of bifunctional terpene synthases has been identified in which a prenyltransferase assembles 5-carbon precursors to form C20 geranylgeranyl diphosphate (GGPP), which is then converted into a polycyclic product by a cyclase. Here, the authors report the cryoEM structure of a 495-kD bifunctional terpene synthase, variediene synthase from Emericella variecolor, in which GGPP is not channeled intramolecularly, but can be channeled intermolecularly to a non-native cyclase.

Eliott S. Wenger
David W. Christianson
ResearchOpen Access02 Jun 2025
Nature Communications

Volume: 16, P: 1-12
Travelling light

David Jones
News & Views28 Jul 1994
Nature

Volume: 370, P: 254
Multi-platform discovery of haplotype-resolved structural variation in human genomes

Structural variants (SVs) in human genomes contribute diversity and diseases. Here, the authors use a multi-platform strategy to generate haplotype-resolved SVs for three human parent–child trios.

Mark J. P. Chaisson
Ashley D. Sanders
Charles Lee
ResearchOpen Access16 Apr 2019
Nature Communications

Volume: 10, P: 1-16
Curated variation benchmarks for challenging medically relevant autosomal genes

Variant detection in problematic genes is facilitated with a curated benchmark.

Justin Wagner
Nathan D. Olson
Fritz J. Sedlazeck
Research07 Feb 2022
Nature Biotechnology

Volume: 40, P: 672-680
Age limitation of perceptual span

DAVID SCHONFIELD
LARRY WENGER
Research31 Jan 1975
Nature

Volume: 253, P: 377-378
Alcohol preference and sensitivity are markedly reduced in mice lacking dopamine D₂ receptors

Tamara J. Phillips
Kelly J. Brown
Malcolm J. Low
Research01 Nov 1998
Nature Neuroscience

Volume: 1, P: 610-615
The transcriptional and regulatory identity of erythropoietin producing cells

Single-cell analyses in a reporter mouse model and human tissues identify a rare cell subset that produces erythropoietin in vivo, opening potential new avenues for research in erythropoiesis and oxygen homeostasis.

Bjørt K. Kragesteen
Amir Giladi
Ido Amit
Research27 Apr 2023
Nature Medicine

Volume: 29, P: 1191-1200
Neuronal cell killing by the envelope protein of HIV and its prevention by vasoactive intestinal peptide

Douglas E. Brenneman
Gary L. Westbrook
Candace B. Pert
Research13 Oct 1988
Nature

Volume: 335, P: 639-642
Two steroid 21-hydroxylase genes are located in the murine S region

Perrin C. White
David D. Chaplin
J. G. Seidman
Research29 Nov 1984
Nature

Volume: 312, P: 465-467
Low-energy photoredox catalysis

Advances in photoredox catalysis have led to considerable developments in organic chemistry and its applied subfields. We discuss the development of low-energy light-absorbing photocatalysts and their use in synthesis, polymer chemistry, and biology.

David C. Cabanero
Tomislav Rovis
Reviews11 Nov 2024
Nature Reviews Chemistry

Volume: 9, P: 28-45
Absence of expression of OKT8 antigen on cultured human, calf and rat oligodendrocytes

Mikio Hirayama
Robert P. Lisak
Donald H. Silberberg
Research13 Jan 1983
Nature

Volume: 301, P: 152-154
Semi-automated assembly of high-quality diploid human reference genomes

Which combination of current genome sequencing and assembly approaches results in high-quality, complete diploid genome assemblies is determined.

Erich D. Jarvis
Giulio Formenti
Karen H. Miga
ResearchOpen Access19 Oct 2022
Nature

Volume: 611, P: 519-531
The complete sequence of a human Y chromosome

We present the complete 62,460,029-base-pair sequence of a human Y chromosome from the HG002 genome (T2T-Y) that corrects multiple errors in GRCh38-Y and adds over 30 million base pairs of sequence to the reference.

Arang Rhie
Sergey Nurk
Adam M. Phillippy
Research23 Aug 2023
Nature

Volume: 621, P: 344-354
Prototype-referenced shape encoding revealed by high-level aftereffects

David A. Leopold
Alice J. O'Toole
Volker Blanz
Research01 Jan 2001
Nature Neuroscience

Volume: 4, P: 89-94
Characterization and visualization of tandem repeats at genome scale

A set of tools maps tandem repeats across complete genomes.

Egor Dolzhenko
Adam English
Michael A. Eberle
Research02 Jan 2024
Nature Biotechnology

Volume: 42, P: 1606-1614
Accurate circular consensus long-read sequencing improves variant detection and assembly of a human genome

High-fidelity reads improve variant detection and genome assembly on the PacBio platform.

Aaron M. Wenger
Paul Peluso
Michael W. Hunkapiller
Research12 Aug 2019
Nature Biotechnology

Volume: 37, P: 1155-1162
The long-term outcomes of presymptomatic infants transplanted for Krabbe disease: Report of the workshop held on July 11 and 12, 2008, Holiday Valley, New York

Patricia K Duffner
Verne S Caviness Jr
Chester Whitley
Research02 Apr 2009
Genetics in Medicine

Volume: 11, P: 450-454
Intrinsic TGF-β signaling attenuates proximal tubule mitochondrial injury and inflammation in chronic kidney disease

Chronic kidney disease (CKD) is a disease that irreversibly leads to loss of renal function. Here, the authors demonstrate the beneficial effect of intrinsic TGF-b signaling on mitochondrial function and inflammation in the proximal tubule epithelium in response to kidney injury.

Merve Kayhan
Judith Vouillamoz
Stellor Nlandu Khodo
ResearchOpen Access03 Jun 2023
Nature Communications

Volume: 14, P: 1-15
Biomarker and cognitive decline in atrial fibrillation: a prospective cohort study

Philipp Krisai
Magdalena Eberl
Ramun Schmid
ResearchOpen Access15 Apr 2025
Scientific Reports

Volume: 15, P: 1-12
Mechanism for rapid growth of organic–inorganic halide perovskite crystals

Single crystals of lead halide perovskites exhibit good optoelectronic properties. Here, the authors study and deduce the mechanism for crystallisation and show how controlling dissolution of colloids through varying the acidity and temperature can improve the quality of the single crystals.

Pabitra K. Nayak
David T. Moore
Henry J. Snaith
ResearchOpen Access10 Nov 2016
Nature Communications

Volume: 7, P: 1-8
A quantum Newton's cradle

A report on a form of quantum ‘Newton's cradle’, in which one-dimensional arrays of ultracold rubidium atoms undergo thousands of collisions without significant damping. The experiment sheds light on the fundamental dynamics of such systems, and may find applications in force sensing and atom interferometry.

Toshiya Kinoshita
Trevor Wenger
David S. Weiss
Research13 Apr 2006
Nature

Volume: 440, P: 900-903
Human-specific loss of regulatory DNA and the evolution of human-specific traits

This study searched for putative regulatory mutations specific to the human lineage by looking for sequences that are highly conserved between chimpanzees and other species, but are not present in the human genome. The 500-odd human-specific deletions tend to lie in non-coding DNA stretches and near genes involved in steroid hormone signalling and neural function. This is illustrated with two examples, one of which affects penile anatomy whereas the other affects brain size.

Cory Y. McLean
Philip L. Reno
David M. Kingsley
Research09 Mar 2011
Nature

Volume: 471, P: 216-219
ENZYMATIC STUDIES OF A NEW VARIANT OF GM¹ GANGLIOSIDOSIS IN AN OLDER CHILD

Parvin M Justice
David A Wenger
Ira M Rosenthal
Research01 Apr 1977
Pediatric Research

Volume: 11, P: 407
1715 NEW METHODS FOR THE DIAGNOSIS OF VARIANT FORMS OF NEOROLIPIDOSIS

David A Wenger
Tooru Kudoh
Martha Sattler
Research01 Apr 1985
Pediatric Research

Volume: 19, P: 396
Defining the relationship between infection prevalence and clinical incidence of Plasmodium falciparum malaria

Mathematical models are used to predict malaria burden to inform disease control efforts. Here, Cameron et al. use Bayesian statistics to calibrate previous models against a data set of age-structured prevalence and incidence, generating stratified forecasts of the prevalence–incidence relationship.

Ewan Cameron
Katherine E. Battle
Peter W. Gething
ResearchOpen Access08 Sept 2015
Nature Communications

Volume: 6, P: 1-10
Biodiversity needs every tool in the box: use OECMs

To conserve global biodiversity, countries must forge equitable alliances that support sustainability in traditional pastoral lands, fisheries-management areas, Indigenous territories and more.

Georgina G. Gurney
Emily S. Darling
Stacy D. Jupiter
Comments & Opinion26 Jul 2021
Nature

Volume: 595, P: 646-649
Stem cells act through multiple mechanisms to benefit mice with neurodegenerative metabolic disease

Jean-Pyo Lee
Mylvaganam Jeyakumar
Evan Y Snyder
Research11 Mar 2007
Nature Medicine

Volume: 13, P: 439-447
1228 LACTATE IS A GLYCOGENIC PRECURSOR IN THE OVINE FETUS

Lynne L Levitsky
John B Paton
David E Fisher
Research01 Apr 1985
Pediatric Research

Volume: 19, P: 315
Sialidosis Presenting as Severe Nonimmune Fetal Hydrops is Associated with Two Novel Mutations in Lysosomal α-Neuraminidase

David J Loren
Yvan Campos
Aaron Hamvas
Research19 May 2005
Journal of Perinatology

Volume: 25, P: 491-494
M-CAP eliminates a majority of variants of uncertain significance in clinical exomes at high sensitivity

Gill Bejerano and colleagues present M-CAP, a classifier that estimates variant pathogenicity in clinical exome data sets. They show that M-CAP outperforms other existing methods at all thresholds and correctly dismisses 60% of rare missense variants of uncertain significance at 95% sensitivity.

Karthik A Jagadeesh
Aaron M Wenger
Gill Bejerano
Research24 Oct 2016
Nature Genetics

Volume: 48, P: 1581-1586
Phased diploid genome assembly with single-molecule real-time sequencing

The open-source FALCON and FALCON-Unzip software utilize long-read sequencing data to generate contiguous, accurate and phased diploid assemblies, even from genomes that are highly heterozygous.

Chen-Shan Chin
Paul Peluso
Michael C Schatz
Research17 Oct 2016
Nature Methods

Volume: 13, P: 1050-1054
EFFECTS OF INORGANIC LEAD ON ISOLATED RAT BRAIN MITOCHONDRIAL RESPIRATION

David Holtzman
J Shen Hsu
Patricia Mortell
Research01 Apr 1977
Pediatric Research

Volume: 11, P: 407
Metabolic engineering of Saccharomyces cerevisiae for second-generation ethanol production from xylo-oligosaccharides and acetate

Dielle Pierotti Procópio
Jae Won Lee
Thiago Olitta Basso
ResearchOpen Access06 Nov 2023
Scientific Reports

Volume: 13, P: 1-14
A flexible and fast digital twin for RRAM systems applied for training resilient neural networks

Markus Fritscher
Simranjeet Singh
Christian Wenger
ResearchOpen Access10 Oct 2024
Scientific Reports

Volume: 14, P: 1-13
Search for Highly Conserved Viral and Bacterial Nucleic Acid Sequences Corresponding to an Etiologic Agent of Kawasaki Disease

Anne H Rowley
Steven M Wolinsky
Stanford T Shulman
Research01 Nov 1994
Pediatric Research

Volume: 36, P: 567-570
De novo and biallelic DEAF1 variants cause a phenotypic spectrum

Maria J. Nabais Sá
Philip J. Jensik
Anneke T. Vulto-vanSilfhout
Research29 Mar 2019
Genetics in Medicine

Volume: 21, P: 2059-2069
Ketogenic diet enhances neurovascular function with altered gut microbiome in young healthy mice

David Ma
Amy C. Wang
Ai-Ling Lin
ResearchOpen Access27 Apr 2018
Scientific Reports

Volume: 8, P: 1-10
Gaucher Disease in the Neonate: A Distinct Gaucher Phenotype Is Analogous to a Mouse Model Created by Targeted Disruption of the Glucocerebrosidase Gene

Ellen Sidransky
David M Sherer
Edward I Ginns
Research01 Oct 1992
Pediatric Research

Volume: 32, P: 494-498
S-CAP extends pathogenicity prediction to genetic variants that affect RNA splicing

S-CAP is an RNA-splicing pathogenicity–prediction tool that can eliminate 41% of variants of unknown significance at 95% sensitivity.

Karthik A. Jagadeesh
Joseph M. Paggi
Gill Bejerano
Research25 Feb 2019
Nature Genetics

Volume: 51, P: 755-763
Impairments of Reversal Learning and Response Perseveration after Repeated, Intermittent Cocaine Administrations to Monkeys

J David Jentsch
Peter Olausson
Jane R Taylor
Research02 Aug 2001
Neuropsychopharmacology

Volume: 26, P: 183-190
Clinical sites of the Undiagnosed Diseases Network: unique contributions to genomic medicine and science

Kelly Schoch
Cecilia Esteves
Vandana Shashi
Research23 Oct 2020
Genetics in Medicine

Volume: 23, P: 259-271
Commonalities across computational workflows for uncovering explanatory variants in undiagnosed cases

Shilpa Nadimpalli Kobren
Dustin Baldridge
Isaac S. Kohane
ResearchOpen Access12 Feb 2021
Genetics in Medicine

Volume: 23, P: 1075-1085
Photovoltaic solar cell technologies: analysing the state of the art

Nearly all types of solar photovoltaic cells and technologies have developed dramatically, especially in the past 5 years. Here, we critically compare the different types of photovoltaic technologies, analyse the performance of the different cells and appraise possibilities for future technological progress.

Pabitra K. Nayak
Suhas Mahesh
David Cahen
Research28 Mar 2019
Nature Reviews Materials

Volume: 4, P: 269-285
Variants in PRKAR1B cause a neurodevelopmental disorder with autism spectrum disorder, apraxia, and insensitivity to pain

Felix Marbach
Georgi Stoyanov
Christian P. Schaaf
ResearchOpen Access08 Apr 2021
Genetics in Medicine

Volume: 23, P: 1465-1473
Heterozygous loss-of-function variants significantly expand the phenotypes associated with loss of GDF11

Thomas A. Ravenscroft
Jennifer B. Phillips
Hugo J. Bellen
Research10 Jun 2021
Genetics in Medicine

Volume: 23, P: 1889-1900
An autosomal dominant neurological disorder caused by de novo variants in FAR1 resulting in uncontrolled synthesis of ether lipids

Sacha Ferdinandusse
Kirsty McWalter
Frédéric M. Vaz
ResearchOpen Access26 Nov 2020
Genetics in Medicine

Volume: 23, P: 740-750
Clinical outcomes of children with abnormal newborn screening results for Krabbe disease in New York State

Melissa P. Wasserstein
Mary Andriola
Michele Caggana
Research12 May 2016
Genetics in Medicine

Volume: 18, P: 1235-1243
Bi-allelic ATG4D variants are associated with a neurodevelopmental disorder characterized by speech and motor impairment

Marie Morimoto
Vikas Bhambhani
May Christine V. Malicdan
ResearchOpen Access10 Feb 2023
npj Genomic Medicine

Volume: 8, P: 1-16
Global survey shows planners use widely varying sea-level rise projections for coastal adaptation

Coastal practitioners in countries with longer histories and more national support show greater assimilation of sea level rise projections in adaptation planning, according to quantitative and qualitative analysis of a global survey.

Daniella Hirschfeld
David Behar
Hiromune Yokoki
ResearchOpen Access03 Apr 2023
Communications Earth & Environment

Volume: 4, P: 1-9

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