Nature Search

Erratum: Super-resolution microscopy reveals that disruption of ciliary transition-zone architecture causes Joubert syndrome

Xiaoyu Shi
Galo Garcia III
Jeremy F. Reiter
Amendments and Corrections31 Oct 2017
Nature Cell Biology

Volume: 19, P: 1379
A ciliopathy combining Joubert syndrome and Oro-Facial-Digital syndrome caused by bi-allelic 5’-UTR loss-of-function CEP83 variant

Matan M. Jean
Anan Yunis
Ohad S. Birk
ResearchOpen Access10 Oct 2025
npj Genomic Medicine

Volume: 10, P: 1-9
The ciliary gene RPGRIP1L is mutated in cerebello-oculo-renal syndrome (Joubert syndrome type B) and Meckel syndrome

Marion Delous
Lekbir Baala
Sophie Saunier
Research10 Jun 2007
Nature Genetics

Volume: 39, P: 875-881
Super-resolution microscopy reveals that disruption of ciliary transition-zone architecture causes Joubert syndrome

Shi et al. map the ciliary transition zone by STORM imaging, characterizing protein arrangements in nested rings and finding that mutations in RPGRIP1L that are associated with the ciliopathy Joubert syndrome disrupt SMO ciliary localization.

Xiaoyu Shi
Galo Garcia III
Jeremy F. Reiter
Research28 Aug 2017
Nature Cell Biology

Volume: 19, P: 1178-1188
Mutations in the gene encoding the basal body protein RPGRIP1L, a nephrocystin-4 interactor, cause Joubert syndrome

Heleen H Arts
Dan Doherty
Ronald Roepman
Research10 Jun 2007
Nature Genetics

Volume: 39, P: 882-888
The centrosomal protein nephrocystin-6 is mutated in Joubert syndrome and activates transcription factor ATF4

John A Sayer
Edgar A Otto
Friedhelm Hildebrandt
Research07 May 2006
Nature Genetics

Volume: 38, P: 674-681
Pathogenic cryptic variants detectable through exome data reanalysis significantly increase the diagnostic yield in Joubert syndrome

Fulvio D’Abrusco
Valentina Serpieri
Enza Maria Valente
ResearchOpen Access11 Oct 2024
European Journal of Human Genetics

Volume: 33, P: 72-79
CEP41 is mutated in Joubert syndrome and is required for tubulin glutamylation at the cilium

Joseph Gleeson and colleagues identify CEP41 mutations as a cause of Joubert syndrome. Their functional studies suggest that CEP41 regulates ciliary entry of TTLL6, an enzyme required for tubulin glutamylation at the cilium.

Ji Eun Lee
Jennifer L Silhavy
Joseph G Gleeson
Research15 Jan 2012
Nature Genetics

Volume: 44, P: 193-199
Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes

Joseph Gleeson and colleagues report that mutations in TMEM216 cause Joubert, Meckel and related syndromes. They further show that TMEM216 localizes to the base of cilia and that its loss leads to defects in ciliogenesis and centrosome docking.

Enza Maria Valente
Clare V Logan
Joseph G Gleeson
Research30 May 2010
Nature Genetics

Volume: 42, P: 619-625
A novel homozygous ARL13B variant in patients with Joubert syndrome impairs its guanine nucleotide-exchange factor activity

Rafiullah Rafiullah
Alyssa B. Long
Gudrun A. Rappold
Research15 Nov 2017
European Journal of Human Genetics

Volume: 25, P: 1324-1334
Joubert syndrome (and related disorders) (OMIM 213300)

Melissa A Parisi
Dan Doherty
Ian A Glass
Research21 Mar 2007
European Journal of Human Genetics

Volume: 15, P: 511-521
New Evidence For a Relationship Between Ion Absorption Aand Protein Turnover in Plant Cells

J. F. SUTCLIFFE
Research22 Oct 1960
Nature

Volume: 188, P: 294-297
A transition zone complex regulates mammalian ciliogenesis and ciliary membrane composition

Jeremy Reiter and colleagues show that Tctn1 is a component of a transition zone complex that regulates ciliogenesis and ciliary membrane composition. They also identify a likely causal mutation in TCTN1 in two siblings with Joubert syndrome.

Francesc R Garcia-Gonzalo
Kevin C Corbit
Jeremy F Reiter
Research03 Jul 2011
Nature Genetics

Volume: 43, P: 776-784
Reversible Dissociation of Arachin

P. JOHNSON
F. J. JOUBERT
E. M. SHOOTER
Research15 Apr 1950
Nature

Volume: 165, P: 595-596
AHI1 is required for photoreceptor outer segment development and is a modifier for retinal degeneration in nephronophthisis

Joseph Gleeson and colleagues show that Ahi1 is required in mice for retinal outer segment development and displays dosage-sensitive genetic interactions with Nphp1. They further show that a missense allele of AHI1 in humans modifies risk of retinal degeneration among individuals with nephronophthisis.

Carrie M Louie
Gianluca Caridi
Joseph G Gleeson
Research17 Jan 2010
Nature Genetics

Volume: 42, P: 175-180
Multiscale modeling of metal-hydride interphases—quantification of decoupled chemo-mechanical energies

Ebert Alvares
Kai Sellschopp
Claudio Pistidda
ResearchOpen Access24 Oct 2024
npj Computational Materials

Volume: 10, P: 1-14
Monolayers of the Globulin, Arachin

F. J. JOUBERT
Research22 Mar 1952
Nature

Volume: 169, P: 498
Oncogenic driver mutations underlie the spatial tumour immune landscape of non-small cell lung cancer

Oncogenic driver mutations can influence the tumour biology of lung adenocarcinomas. Here, authors analyse 157 LUAD samples using imaging mass cytometry to reveal how these mutations impact the tumour microenvironment and clinical outcomes.

Saskia Hartner
Hanie Abolfathi
Logan A. Walsh
ResearchOpen Access25 Sept 2025
Nature Communications

Volume: 16, P: 1-10
Whole-exome sequencing in fetuses with central nervous system abnormalities

Adi Reches
Liran Hiersch
Yuval Yaron
Research14 Aug 2018
Journal of Perinatology

Volume: 38, P: 1301-1308
Microbiome analysis of 940 lung cancers in never-smokers reveals lack of clinically relevant associations

Here, as part of the Sherlock-Lung study, the authors profile the microbiomes of 940 lung cancers in never smokers finding no significant associations with demographic and clinical features, suggesting lung bacteria are unlikely to have a sizable role in lung cancer.

John P. McElderry
Tongwu Zhang
Maria Teresa Landi
ResearchOpen Access12 Dec 2025
Nature Communications

Volume: 17, P: 1-16
Uncovering the role of LINE-1 in the evolution of lung adenocarcinoma

Lung adenocarcinomas bearing the ID2 mutational signature display increased LINE-1 retrotransposon activity, which contributes to their fast evolutionary dynamics and aggressive phenotype.

Tongwu Zhang
Wei Zhao
Maria Teresa Landi
Research10 Dec 2025
Nature

P: 1-12
Genome sequencing provides high diagnostic yield and new etiological insights for intellectual disability and developmental delay

Kohei Hamanaka
Atsushi Fujita
Naomichi Matsumoto
ResearchOpen Access26 Aug 2025
npj Genomic Medicine

Volume: 10, P: 1-12
Naras Seed Protein

F. J. JOUBERT
D. R. COOPER
Research26 Dec 1953
Nature

Volume: 172, P: 1190
An siRNA-based functional genomics screen for the identification of regulators of ciliogenesis and ciliopathy genes

In an effort by several research groups, a genome-wide RNAi-based screen presents a list of validated genes involved in cilia assembly and maintenance, and reveals previously unidentified ciliopathy factors.

Gabrielle Wheway
Miriam Schmidts
Colin A. Johnson
Research13 Jul 2015
Nature Cell Biology

Volume: 17, P: 1074-1087
Spontaneous Cytomegalic Inclusion Body Disease involving Lacrimal Glands of Cæsarian-derived (so-called) Pathogen-free Rats

HANS MEIER
Research05 Nov 1960
Nature

Volume: 188, P: 506-507
Protein-Bound Azo Dyes in the Serum of Rats Fed 3'-Methyl-4-Dimethylaminoazobenzene

J Dijkstra
F J Joubert
Research01 Mar 1961
British Journal of Cancer

Volume: 15, P: 168-173
In Situ and In Vitro Breakage of Lampbrush Chromosomes by X-Radiation

O. L. MILLER jun.
ROMANCE F. CARRIER
R. C. von BORSTEL
Research29 May 1965
Nature

Volume: 206, P: 905-908
The morbid genome of ciliopathies: an update

Hanan E. Shamseldin
Ranad Shaheen
Fowzan S. Alkuraya
Research14 Feb 2020
Genetics in Medicine

Volume: 22, P: 1051-1060
Diagnostic implications of pitfalls in causal variant identification based on 4577 molecularly characterized families

Despite large sequencing and data sharing efforts it often remains challenging to provide a genetic diagnosis for individuals with suspected Mendelian (single-gene) disorders. Here, the authors describe their experiences in identifying likely causal genetic variants in thousands of families and highlight the need to consider a wide range of challenges rather than a narrow focus on sequencing technologies.

Lama AlAbdi
Sateesh Maddirevula
Fowzan S. Alkuraya
ResearchOpen Access29 Aug 2023
Nature Communications

Volume: 14, P: 1-19
Discovery of four recessive developmental disorders using probabilistic genotype and phenotype matching among 4,125 families

Matthew Hurles, David FitzPatrick and colleagues report the discovery of four novel Mendelian disorders based on their analysis of exome sequence data from 4,125 families with diverse rare developmental disorders. They present their analytical pipeline as a general strategy for the discovery of genetic causes of autosomal recessive disorders.

Nadia Akawi
Jeremy McRae
Matthew E Hurles
Research05 Oct 2015
Nature Genetics

Volume: 47, P: 1363-1369
Hedgehog signaling and primary cilia are required for the formation of adult neural stem cells

Young-Goo Han
Nathalie Spassky
Arturo Alvarez-Buylla
Research24 Feb 2008
Nature Neuroscience

Volume: 11, P: 277-284
Targeted exome sequencing resolves allelic and the genetic heterogeneity in the genetic diagnosis of nephronophthisis-related ciliopathy

Hee Gyung Kang
Hyun Kyung Lee
Hae Il Cheong
ResearchOpen Access05 Aug 2016
Experimental & Molecular Medicine

Volume: 48, P: e251
New genetic signals for lung function highlight pathways and chronic obstructive pulmonary disease associations across multiple ancestries

A genome-wide association study in more than 400,000 individuals identifies 139 new signals for lung function. These variants can predict chronic obstructive pulmonary disease in independent, transancestral cohorts.

Nick Shrine
Anna L. Guyatt
Louise V. Wain
Research25 Feb 2019
Nature Genetics

Volume: 51, P: 481-493
Maternal plasma folate impacts differential DNA methylation in an epigenome-wide meta-analysis of newborns

Folic acid is routinely recommended for women trying to conceive to ensure proper fetal development. Here, the authors perform a large epigenomics study to examine which fetal epigenetic changes are associated with varied maternal plasma folate levels.

Bonnie R. Joubert
Herman T. den Dekker
Stephanie J. London
ResearchOpen Access10 Feb 2016
Nature Communications

Volume: 7, P: 1-8
Candidate exome capture identifies mutation of SDCCAG8 as the cause of a retinal-renal ciliopathy

Friedhelm Hildebrandt and colleagues combine homozygosity mapping with candidate exome capture and high-throughput sequencing to identify SDCCAG8 mutations as the cause of a retinal-renal ciliopathy. They further show that SDCCAG8 localizes to centrioles and that its depletion causes renal cysts and cell polarity defects.

Edgar A Otto
Toby W Hurd
Friedhelm Hildebrandt
Research12 Sept 2010
Nature Genetics

Volume: 42, P: 840-850
Mutations in LCA5, encoding the ciliary protein lebercilin, cause Leber congenital amaurosis

Anneke I den Hollander
Robert K Koenekoop
Ronald Roepman
Research03 Jun 2007
Nature Genetics

Volume: 39, P: 889-895
High rate of hypomorphic variants as the cause of inherited ataxia and related diseases: study of a cohort of 366 families

Mehdi Benkirane
Cecilia Marelli
Michel Koenig
Research07 Jul 2021
Genetics in Medicine

Volume: 23, P: 2160-2170
Determination of Ascorbic Acid in the Presence of Sulphur Dioxide

L. F. LEVY
Research20 Nov 1943
Nature

Volume: 152, P: 599
Prokaryotic and eukaryotic cell-cycle proteins

ARTHUR C. ROBINSON
JOHN F. COLLINS
WILLIAM D. DONACHIE
Research27 Aug 1987
Nature

Volume: 328, P: 766
Variants in the WDR44 WD40-repeat domain cause a spectrum of ciliopathy by impairing ciliogenesis initiation

A vesicle trafficking Rab11 effector switch is important for ciliogenesis. Here, the authors report a ciliopathy-related disorder caused by variants in WDR44, a Rab11 effector. WDR44 variants show higher affinity for Rab11 and can impair ciliogenesis.

Andrea Accogli
Saurabh Shakya
Christopher J. Westlake
ResearchOpen Access08 Jan 2024
Nature Communications

Volume: 15, P: 1-20
Emerging mechanistic understanding of cilia function in cellular signalling

Cilia are microtubule-based cell projections that provide a unique environment with precise protein, lipid and second messenger concentrations, thereby creating specialized signalling hubs. This Review discusses recent multidisciplinary, mechanistic insights into cilia-based signalling pathways during development and homeostasis.

Keren I. Hilgendorf
Benjamin R. Myers
Jeremy F. Reiter
Reviews16 Feb 2024
Nature Reviews Molecular Cell Biology

Volume: 25, P: 555-573
The mutagenic forces shaping the genomes of lung cancer in never smokers

An analysis of data from the Sherlock-Lung study provides insight into the mutational processes that contribute to lung cancer in never smokers, and looks at the possible role of factors such as air pollution and passive smoking.

Marcos Díaz-Gay
Tongwu Zhang
Maria Teresa Landi
Research02 Jul 2025
Nature

Volume: 644, P: 133-144
The ciliopathy protein TALPID3/KIAA0586 acts upstream of Rab8 activation in zebrafish photoreceptor outer segment formation and maintenance

Irene Ojeda Naharros
Flavia B. Cristian
Ruxandra Bachmann-Gagescu
ResearchOpen Access02 Feb 2018
Scientific Reports

Volume: 8, P: 1-13
Acid and Alkaline Phosphatase Activity in the Liver of Brown and Rainbow Trout

LIONEL E. MAWDESLEY-THOMAS
DAVID H. BARRY
Research15 Aug 1970
Nature

Volume: 227, P: 738-739
Genetic correlations and genome-wide associations of cortical structure in general population samples of 22,824 adults

Cortex morphology varies with age, cognitive function, and in neurological and psychiatric diseases. Here the authors report 160 genome-wide significant associations with thickness, surface area and volume of the total cortex and 34 cortical regions from a GWAS meta-analysis in 22,824 adults.

Edith Hofer
Gennady V. Roshchupkin
Sudha Seshadri
ResearchOpen Access22 Sept 2020
Nature Communications

Volume: 11, P: 1-16
Effect of Anæmic Anoxia on Erythropoiesis of Nephrectomized Dog

J. P. NAETS
A. F. HEUSE
Research14 Jul 1962
Nature

Volume: 195, P: 190
Genome-wide association analyses for lung function and chronic obstructive pulmonary disease identify new loci and potential druggable targets

Louise Wain, Ian Hall, Martin Tobin and colleagues report genome-wide association analyses of lung function, identifying 43 new signals associated with one or more lung function traits. A genetic risk score derived from these results was significantly associated with risk for chronic obstructive pulmonary disease in independent populations.

Louise V Wain
Nick Shrine
Martin D Tobin
Research06 Feb 2017
Nature Genetics

Volume: 49, P: 416-425
Osmotic Regulation in Sabella Pavonina

D. W. EWER
R. F. EWER
Research20 Nov 1943
Nature

Volume: 152, P: 598-599
Trust in scientists and their role in society across 68 countries

What is the state of trust in scientists around the world? To answer this question, the authors surveyed 71,922 respondents in 68 countries and found that trust in scientists is moderately high.

Viktoria Cologna
Niels G. Mede
Rolf A. Zwaan
ResearchOpen Access20 Jan 2025
Nature Human Behaviour

Volume: 9, P: 713-730
Extreme weather event attribution predicts climate policy support across the world

Literature produced inconsistent findings regarding the links between extreme weather events and climate policy support across regions, populations and events. This global study offers a holistic assessment of these relationships and highlights the role of subjective attribution.

Viktoria Cologna
Simona Meiler
Amber Zenklusen
ResearchOpen Access01 Jul 2025
Nature Climate Change

Volume: 15, P: 725-735

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