Nature Search

A null mutation in the human peripherin/RDS gene in a family with autosomal dominant retinitis punctata albescens

Kazuto Kajiwara
Michael A. Sandberg
Thaddeus P. Dryja
Research01 Mar 1993
Nature Genetics

Volume: 3, P: 208-212
Serine biosynthesis defect due to haploinsufficiency of PHGDH causes retinal disease

Rare variants in the gene encoding PHGDH, the rate-limiting enzyme in de novo serine biosynthesis, are identified as responsible for serine deficiency associated with the macular degenerative disease MacTel.

Kevin Eade
Marin L. Gantner
Rando Allikmets
Research22 Mar 2021
Nature Metabolism

Volume: 3, P: 366-377
ABCB5 is a limbal stem cell gene required for corneal development and repair

The loss of limbal stem cells (LSCs) due to injury or disease is one of the leading causes of blindness; here, the ABCB5 protein is identified as a marker of LSCs in mouse and human eye, and shown to be functionally required for LSC maintenance, corneal development and repair.

Bruce R. Ksander
Paraskevi E. Kolovou
Natasha Y. Frank
Research02 Jul 2014
Nature

Volume: 511, P: 353-357
Missense mutation in the gene encoding the α subunit of rod transducin in the Nougaret form of congenital stationary night blindness

Thaddeus P. Dryja
Lauri B. Hahn
Bernard Arnaud
Research01 Jul 1996
Nature Genetics

Volume: 13, P: 358-360
Past terrestrial hydroclimate sensitivity controlled by Earth system feedbacks

In contrast to future projections, paleoclimate records often find wetter subtropics in tandem with elevated CO₂. Here, a compilation of proxies and simulations are used to reveal the climate dynamics and feedbacks responsible for generating wet subtropics during the mid-Pliocene.

Ran Feng
Tripti Bhattacharya
W. Richard Peltier
ResearchOpen Access14 Mar 2022
Nature Communications

Volume: 13, P: 1-11
Genetic association study of exfoliation syndrome identifies a protective rare variant at LOXL1 and five new susceptibility loci

Chiea Chuen Khor, Tin Aung, Francesca Pasutto, Janey Wiggs and colleagues report a global genome-wide association study of exfoliation syndrome and a fine-mapping analysis of a previously identified disease-associated locus, LOXL1. They identify a rare protective variant in LOXL1 exclusive to the Japanese population and five new common variant susceptibility loci.

Tin Aung
Mineo Ozaki
Chiea Chuen Khor
Research29 May 2017
Nature Genetics

Volume: 49, P: 993-1004
Global estimates on the number of people blind or visually impaired by age-related macular degeneration: a meta-analysis from 2000 to 2020

João M. Furtado
Jost B. Jonas
Rupert R. A. Bourne
ResearchOpen Access04 Jul 2024
Eye

Volume: 38, P: 2070-2082
Genome-wide association analysis identifies TXNRD2, ATXN2 and FOXC1 as susceptibility loci for primary open-angle glaucoma

Janey Wiggs, Jonathan Haines and colleagues identify three new susceptibility loci for primary open-angle glaucoma. The association signals map near genes implicated in ocular development (FOXC1), neurodegeneration (ATXN2) and mitochondrial function (TXNRD2).

Jessica N Cooke Bailey
Stephanie J Loomis
Janey L Wiggs
Research11 Jan 2016
Nature Genetics

Volume: 48, P: 189-194
Red-COLA1: a human fibroblast reporter cell line for type I collagen transcription

Hui Hui Wong
Sze Hwee Seet
Frederic Bard
ResearchOpen Access12 Nov 2020
Scientific Reports

Volume: 10, P: 1-12
Global estimates on the number of people blind or visually impaired by Uncorrected Refractive Error: a meta-analysis from 2000 to 2020

Julie-Anne Little
Nathan G. Congdon
Rupert Bourne
ResearchOpen Access04 Jul 2024
Eye

Volume: 38, P: 2083-2101
Permafrost collapse is accelerating carbon release

The sudden collapse of thawing soils in the Arctic might double the warming from greenhouse gases released from tundra, warn Merritt R. Turetsky and colleagues.

Merritt R. Turetsky
Benjamin W. Abbott
A. Britta K. Sannel
Comments & Opinion30 Apr 2019
Nature

Volume: 569, P: 32-34
Correction: Biomarkers of neonatal skin barrier adaptation reveal substantial differences compared to adult skin

Marty O. Visscher
Andrew N. Carr
Vivek Narendran
Amendments and CorrectionsOpen Access14 Sept 2020
Pediatric Research

Volume: 89, P: 1870
Identification of candidate genes and pathways in retinopathy of prematurity by whole exome sequencing of preterm infants enriched in phenotypic extremes

Sang Jin Kim
Kemal Sonmez
Cristina Montero-Mendoza
ResearchOpen Access02 Mar 2021
Scientific Reports

Volume: 11, P: 1-11
The International HapMap Project

Richard A. Gibbs
John W. Belmont
Toshihiro Tanaka
Special Features18 Dec 2003
Nature

Volume: 426, P: 789-796
Evidence of Cosmic Impact at Abu Hureyra, Syria at the Younger Dryas Onset (~12.8 ka): High-temperature melting at >2200 °C

Andrew M. T. Moore
James P. Kennett
Allen West
ResearchOpen Access06 Mar 2020
Scientific Reports

Volume: 10, P: 1-22
Genome-wide association identifies novel ROP risk loci in a multiethnic cohort

A GWAS in a multi-ethnic cohort identifies a novel association between the GLI3 SNP rs2058019 and retinopathy of prematurity (ROP) severity, which was confirmed as relevant to preretinal neovascular disease and human ocular gene expression.

Xiaohui Li
Leah A. Owen
Cristina Montero-Mendoza
ResearchOpen Access17 Jan 2024
Communications Biology

Volume: 7, P: 1-13
Global estimates on the number of people blind or visually impaired by glaucoma: A meta-analysis from 2000 to 2020

Rupert R. A. Bourne
Jost B. Jonas
Jaimie D. Steinmetz
ResearchOpen Access02 Apr 2024
Eye

Volume: 38, P: 2036-2046
Outcomes of phacoemulsification and endoscopic cyclophotocoagulation performed with dual blade ab interno trabeculectomy or trabecular micro-bypass stent insertion

Emma Klug
Marika Chachanidze
David Solá-Del Valle
ResearchOpen Access10 Mar 2021
Eye

Volume: 36, P: 424-432
Biomarkers of neonatal skin barrier adaptation reveal substantial differences compared to adult skin

Marty O. Visscher
Andrew N. Carr
Vivek Narendran
ResearchOpen Access29 Jun 2020
Pediatric Research

Volume: 89, P: 1208-1215

Search

A null mutation in the human peripherin/RDS gene in a family with autosomal dominant retinitis punctata albescens

Serine biosynthesis defect due to haploinsufficiency of PHGDH causes retinal disease

ABCB5 is a limbal stem cell gene required for corneal development and repair

Missense mutation in the gene encoding the α subunit of rod transducin in the Nougaret form of congenital stationary night blindness

Past terrestrial hydroclimate sensitivity controlled by Earth system feedbacks

Genetic association study of exfoliation syndrome identifies a protective rare variant at LOXL1 and five new susceptibility loci

Global estimates on the number of people blind or visually impaired by age-related macular degeneration: a meta-analysis from 2000 to 2020

Genome-wide association analysis identifies TXNRD2, ATXN2 and FOXC1 as susceptibility loci for primary open-angle glaucoma

Red-COLA1: a human fibroblast reporter cell line for type I collagen transcription

Global estimates on the number of people blind or visually impaired by Uncorrected Refractive Error: a meta-analysis from 2000 to 2020

Permafrost collapse is accelerating carbon release

Correction: Biomarkers of neonatal skin barrier adaptation reveal substantial differences compared to adult skin

Identification of candidate genes and pathways in retinopathy of prematurity by whole exome sequencing of preterm infants enriched in phenotypic extremes

The International HapMap Project

Evidence of Cosmic Impact at Abu Hureyra, Syria at the Younger Dryas Onset (~12.8 ka): High-temperature melting at >2200 °C

Genome-wide association identifies novel ROP risk loci in a multiethnic cohort

Global estimates on the number of people blind or visually impaired by glaucoma: A meta-analysis from 2000 to 2020

Outcomes of phacoemulsification and endoscopic cyclophotocoagulation performed with dual blade ab interno trabeculectomy or trabecular micro-bypass stent insertion

Biomarkers of neonatal skin barrier adaptation reveal substantial differences compared to adult skin

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