Nature Search

Turning points in Phanerozoic history

Martin A. Whyte
Research01 Jun 1977
Nature

Volume: 267, P: 679-682
Nationwide genomic atlas of soil-dwelling Listeria reveals effects of selection and population ecology on pangenome evolution

A population genomic analysis of 1,854 Listeria soil isolates collected across the contiguous United States identifies geographically prevalent phylogroups with increased pangenome openness and recombination, as a result of adaptation to variable environments.

Jingqiu Liao
Xiaodong Guo
Otto X. Cordero
Research15 Jul 2021
Nature Microbiology

Volume: 6, P: 1021-1030
Autosomal dominant hypocalcaemia caused by a Ca²⁺-sensing receptor gene mutation

Martin R. Pollak
Edward M. Brown
J. G. Seidman
Research01 Nov 1994
Nature Genetics

Volume: 8, P: 303-307
A mouse model of human familial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism

Chrystal Ho
David A. Conner
Christine E. Seidman
Research01 Dec 1995
Nature Genetics

Volume: 11, P: 389-394
Cerebrospinal fluid findings in patients with psychotic symptoms—a retrospective analysis

Tim W. Rattay
Pascal Martin
Dirk Wildgruber
ResearchOpen Access30 Mar 2021
Scientific Reports

Volume: 11, P: 1-12
Posthospitalization COVID-19 cognitive deficits at 1 year are global and associated with elevated brain injury markers and gray matter volume reduction

A national prospective study of patients requiring hospitalization for COVID-19 demonstrates global cognitive deficits at 1 year, associated with elevated brain injury markers and reduced gray matter volume.

Greta K. Wood
Brendan F. Sargent
E. Charles Leek
ResearchOpen Access23 Sept 2024
Nature Medicine

Volume: 31, P: 245-257
Homozygosity mapping of the gene for alkaptonuria to chromosome 3q2

Martin R. Pollak
Yah-Huei Wu Chou
Christine E. Seidman
Research01 Oct 1993
Nature Genetics

Volume: 5, P: 201-204
Mutations in the formin gene INF2 cause focal segmental glomerulosclerosis

Martin Pollak and colleagues show that missense mutations in the diaphanous inhibitory domain of INF2 cause focal segmental glomerular sclerosis. INF2 encodes a member of the formin family of actin-regulating proteins, highlighting an important role for actin dynamics in podocyte function.

Elizabeth J Brown
Johannes S Schlöndorff
Martin R Pollak
Research20 Dec 2009
Nature Genetics

Volume: 42, P: 72-76
Metformin improves healthspan and lifespan in mice

The anti-diabetic drug metformin has been shown to increase lifespan of some model organisms, but results have been conflicting. Here, Martin-Montalvo et al. administer one of two doses of metformin to male mice and show that the lower dose increases healthspan and lifespan, while the higher dose is toxic.

Alejandro Martin-Montalvo
Evi M. Mercken
Rafael de Cabo
Research30 Jul 2013
Nature Communications

Volume: 4, P: 1-9
Maternal UPD 20 in a hyperactive child with severe growth retardation

I Chudoba
Y Franke
U Claussen
Research22 Jun 1999
European Journal of Human Genetics

Volume: 7, P: 533-540
Strong protective effect of the APOL1 p.N264K variant against G2-associated focal segmental glomerulosclerosis and kidney disease

African Americans have an elevated risk of developing chronic kidney disease, yet only a fraction of those with high-risk genotypes develop the disease. Here, the authors show that a missense variant in APOL1 has a strong protective effect when co-inherited with the high-risk G2 allele of APOL1, with important implications for clinical practice and translational research.

Yask Gupta
David J. Friedman
Simone Sanna-Cherchi
ResearchOpen Access30 Nov 2023
Nature Communications

Volume: 14, P: 1-8
Correction: Corrigendum: Mutations in the formin gene INF2 cause focal segmental glomerulosclerosis

Elizabeth J Brown
Johannes S Schlöndorff
Martin R Pollak
Amendments and Corrections01 Apr 2010
Nature Genetics

Volume: 42, P: 361
Homozygosity mapping: familiarity breeds debility

Martin Farrall
News & Views01 Oct 1993
Nature Genetics

Volume: 5, P: 107-108
Para-infectious brain injury in COVID-19 persists at follow-up despite attenuated cytokine and autoantibody responses

COVID-19 can be associated with neurological complications. Here the authors show that markers of brain injury, but not immune markers, are elevated in the blood of patients with COVID-19 both early and months after SARS-CoV-2 infection, particularly in those with brain dysfunction or neurological diagnoses.

Benedict D. Michael
Cordelia Dunai
David K. Menon
ResearchOpen Access22 Dec 2023
Nature Communications

Volume: 14, P: 1-15
Multi-population genome-wide association study implicates immune and non-immune factors in pediatric steroid-sensitive nephrotic syndrome

Here, the authors have performed a multi-population GWAS meta-analysis of pediatric steroid sensitive nephrotic syndrome cases to discover 12 loci (4 novel), fine-map HLA, implicate kidney and immune factors, and associate the polygenic risk score with earlier disease onset.

Alexandra Barry
Michelle T. McNulty
Matthew G. Sampson
ResearchOpen Access29 Apr 2023
Nature Communications

Volume: 14, P: 1-13
APOL1 variants and kidney disease in people of recent African ancestry

Variants in two neighbouring genes,APOL1 and MYH9, have previously been associated with kidney disease. Here, using 1000 genomes data, the authors reason by exclusion that the APOL1variants are in fact the most likely causal variants involved in kidney disease, and that this genomic region should be targeted in future studies to determine function.

Giulio Genovese
David J. Friedman
Martin R. Pollak
Reviews26 Feb 2013
Nature Reviews Nephrology

Volume: 9, P: 240-244
1101 THE RENAL HANDLING OF PHOSPHATE (P) IN THE NEWBORN CANINE KIDNEY

Janita C Russo
Martin A Nash
William Heird
Research01 Apr 1978
Pediatric Research

Volume: 12, P: 547
Wastewater sequencing reveals early cryptic SARS-CoV-2 variant transmission

Emerging SARS-CoV-2 variants of concern were detected early and multiple cases of virus spread not captured by clinical genomic surveillance were identified using high-resolution wastewater and clinical sequencing.

Smruthi Karthikeyan
Joshua I. Levy
Rob Knight
ResearchOpen Access07 Jul 2022
Nature

Volume: 609, P: 101-108
TRPC6 is a glomerular slit diaphragm-associated channel required for normal renal function

Jochen Reiser
Krishna R Polu
Martin R Pollak
Research27 May 2005
Nature Genetics

Volume: 37, P: 739-744
Mutations in ACTN4, encoding α-actinin-4, cause familial focal segmental glomerulosclerosis

Joshua M. Kaplan
Sung H Kim
Martin R. Pollak
Research01 Mar 2000
Nature Genetics

Volume: 24, P: 251-256
Stem cell engraftment at the endosteal niche is specified by the calcium-sensing receptor

Gregor B. Adams
Karissa T. Chabner
David T. Scadden
Research28 Dec 2005
Nature

Volume: 439, P: 599-603
A suPAR circulating factor causes kidney disease

For many years, investigators have been searching for an elusive circulating factor that could cause the common kidney disease focal segmental glomerulosclerosis (FSGS). The finding that a circulating, soluble form of the urokinase receptor (suPAR) can activate podocyte β₃ integrin, leading to FSGS pathology (pages 952–960), provides new insights into this disease and may have important clinical implications.

Stuart J Shankland
Martin R Pollak
News & Views04 Aug 2011
Nature Medicine

Volume: 17, P: 926-927
A tripartite complex composed of ETV6-NTRK3, IRS1 and IGF1R is required for ETV6-NTRK3-mediated membrane localization and transformation

C E Tognon
M J Martin
P H B Sorensen
Research01 Aug 2011
Oncogene

Volume: 31, P: 1334-1340
Using population admixture to help complete maps of the human genome

Steven McCarroll, Giulio Genovese and colleagues report a new approach to help complete maps of the human genome reference sequence. They use a population-based admixture mapping approach and report the successful mapping of ~4 Mb of unplaced human euchromatic sequences.

Giulio Genovese
Robert E Handsaker
Steven A McCarroll
Research24 Feb 2013
Nature Genetics

Volume: 45, P: 406-414
Kidney disease and African ancestry

Mapping by admixture linkage disequilibrium (MALD) leverages differences in disease frequencies among ancestry groups to map disease-susceptibility loci on the basis of genetic admixture. Two new studies use MALD to identify variation at the MYH9 locus as a major factor for the increased risk of nondiabetic kidney disease in African Americans.

Martin R Pollak
News & Views01 Oct 2008
Nature Genetics

Volume: 40, P: 1145-1146
A parallel-arm phase I trial of the humanised anti-IGF-1R antibody dalotuzumab in combination with the AKT inhibitor MK-2206, the mTOR inhibitor ridaforolimus, or the NOTCH inhibitor MK-0752, in patients with advanced solid tumours

I Brana
R Berger
J E Gray
ResearchOpen Access07 Oct 2014
British Journal of Cancer

Volume: 111, P: 1932-1944
The association of breast mitogens with mammographic densities

N F Boyd
J Stone
S Minkin
ResearchOpen Access07 Oct 2002
British Journal of Cancer

Volume: 87, P: 876-882
Focal segmental glomerulosclerosis ACTN4 mutants binding to actin: regulation by phosphomimetic mutations

Hanshuang Shao
Bentley Wingert
Alan Wells
ResearchOpen Access29 Oct 2019
Scientific Reports

Volume: 9, P: 1-12
Pharmacological targeting of actin-dependent dynamin oligomerization ameliorates chronic kidney disease in diverse animal models

The small molecule Bis-T-23 targets actin polymerization to improve renal morphology and function in several mouse models of kidney injury and disease.

Mario Schiffer
Beina Teng
Sanja Sever
Research11 May 2015
Nature Medicine

Volume: 21, P: 601-609
Childhood Trauma Exposure Disrupts the Automatic Regulation of Emotional Processing

Hilary A Marusak
Kayla R Martin
Moriah E Thomason
Research21 Nov 2014
Neuropsychopharmacology

Volume: 40, P: 1250-1258
Patients with neurological or psychiatric complications of COVID-19 have worse long-term functional outcomes: COVID-CNS—A multicentre case–control study

Rajish S. K. Shil
Adam Seed
Hannah Stark
ResearchOpen Access27 Jan 2025
Scientific Reports

Volume: 15, P: 1-14
Mutations causing medullary cystic kidney disease type 1 lie in a large VNTR in MUC1 missed by massively parallel sequencing

Anthony Bleyer, Eric Lander, Mark Daly and colleagues show that frameshift mutations in a large VNTR of MUC1 cause medullary cystic kidney disease type 1. Their discovery sheds light on the biology of this disease and highlights challenges in using massively parallel sequencing technologies to characterize certain types of sequence variants.

Andrew Kirby
Andreas Gnirke
Mark J Daly
Research10 Feb 2013
Nature Genetics

Volume: 45, P: 299-303
Author Correction: Para-infectious brain injury in COVID-19 persists at follow-up despite attenuated cytokine and autoantibody responses

Benedict D. Michael
Cordelia Dunai
David K. Menon
Amendments and CorrectionsOpen Access04 Apr 2024
Nature Communications

Volume: 15, P: 1
Mutational evolution in a lobular breast tumour profiled at single nucleotide resolution

Advances in next generation sequencing have made it possible to precisely characterize the coding mutations that occur during the development and progression of individual cancers. Here, this technique is used to sequence the genomes and transcriptomes of an oestrogen-receptor-α-positive metastatic lobular breast cancer; significant evolution is found to occur with disease progression.

Sohrab P. Shah
Ryan D. Morin
Samuel Aparicio
ResearchOpen Access08 Oct 2009
Nature

Volume: 461, P: 809-813
Global site-specific neddylation profiling reveals that NEDDylated cofilin regulates actin dynamics

NEDD8-ubiquitin substrate profiling (sNUSP) identifies neddylation sites in many non-cullin proteins. Among the candidates, neddylation of cofilin regulates actin dynamics and neurite growth and outgrowth in developing neurons.

Annette M. Vogl
Lilian Phu
Morgan Sheng
Research03 Feb 2020
Nature Structural & Molecular Biology

Volume: 27, P: 210-220
NRF2, cancer and calorie restriction

A Martín-Montalvo
J M Villalba
R de Cabo
Reviews08 Nov 2010
Oncogene

Volume: 30, P: 505-520
Clinical validation of cutoff target ranges in newborn screening of metabolic disorders by tandem mass spectrometry: A worldwide collaborative project

David M S McHugh
Cynthia A Cameron
Wendy M Zakowicz
Research15 Feb 2011
Genetics in Medicine

Volume: 13, P: 230-254
von Hippel-Lindau mutants in renal cell carcinoma are regulated by increased expression of RSUME

Lucas Tedesco
Belén Elguero
Eduardo Arzt
ResearchOpen Access19 Mar 2019
Cell Death & Disease

Volume: 10, P: 1-13
Nuclear IGF-1R predicts chemotherapy and targeted therapy resistance in metastatic colorectal cancer

Jordi Codony-Servat
Miriam Cuatrecasas
Joan Maurel
ResearchOpen Access09 Nov 2017
British Journal of Cancer

Volume: 117, P: 1777-1786
Polygenic risk score-based phenome-wide association study identifies novel associations for Tourette syndrome

Pritesh Jain
Tyne Miller-Fleming
Peristera Paschou
ResearchOpen Access23 Feb 2023
Translational Psychiatry

Volume: 13, P: 1-10
Metabolic memory and diabetic nephropathy: potential role for epigenetic mechanisms

Chronic hyperglycemia is associated with the presence and evolution of diabetic complications in type 1 and type 2 diabetes. Intensive glycemic control can have beneficial effects on such complications, particularly diabetic nephropathy. This Review discusses the phenomenon of 'metabolic memory', in which the beneficial effects of intensive glycemic control persist after a return to more usual (often worse) glycemic control. This phenomenon is not well understood, but preliminary studies indicate that biochemical mechanisms such as advanced glycation and molecular pathways involving epigenetic events might have a role.

Stephen Tonna
Assam El-Osta
Chris Tikellis
Reviews27 Apr 2010
Nature Reviews Nephrology

Volume: 6, P: 332-341
Gα12 activation in podocytes leads to cumulative changes in glomerular collagen expression, proteinuria and glomerulosclerosis

Ilene Boucher
Wanfeng Yu
Bradley M Denker
Research16 Jan 2012
Laboratory Investigation

Volume: 92, P: 662-675
Genome-wide meta-analysis identifies six novel loci associated with habitual coffee consumption

M C Cornelis
E M Byrne
D I Chasman
Research07 Oct 2014
Molecular Psychiatry

Volume: 20, P: 647-656

Search

Filter By:

Search

Quick links