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Article
BBS10 encodes a vertebrate-specific chaperonin-like protein and is a major BBS locus
Bardet-Biedl syndrome (BBS) is a genetically heterogeneous ciliopathy. Although nine BBS genes have been cloned, they explain only 40–50% of the total mutational load. Here we report a major new BBS locus, BBS10,...
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Article
Correction: Corrigendum: BBS10 encodes a vertebrate-specific chaperonin-like protein and is a major BBS locus
Nat. Genet. 38, 521–524 (2006). The name of author Eduardo D. Silva was misspelled in the original version of this paper. It is listed correctly above.
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Article
The ciliary proteome database: an integrated community resource for the genetic and functional dissection of cilia
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Article
Hypomorphic mutations in syndromic encephalocele genes are associated with Bardet-Biedl syndrome
Meckel-Gruber syndrome (MKS) is a genetically heterogeneous, neonatally lethal malformation and the most common form of syndromic neural tube defect (NTD). To date, several MKS-associated genes have been ident...
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Article
Correction: Corrigendum: Hypomorphic mutations in syndromic encephalocele genes are associated with Bardet-Biedl syndrome
Nat. Genet. 40, 443–448 (2008); published online 9 March 2008; corrected after print 26 June 2008 In the version of this article initially published, the name of the seventh author was misspelled. The correct ...
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Article
A common allele in RPGRIP1L is a modifier of retinal degeneration in ciliopathies
Nicholas Katsanis and colleagues report that a common allele of RPGRIP1L is associated with photoreceptor loss in ciliopathies. An A229T variant in RPGRIP1L compromises binding to RPGR and modifies the retinal de...
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Article
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 cili...
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Article
CCDC39 is required for assembly of inner dynein arms and the dynein regulatory complex and for normal ciliary motility in humans and dogs
Michel Georges and colleagues identify a founder mutation in CCDC39 associated with primary ciliary dyskinesia in Old English Sheepdogs. They further show that mutations in human CCDC39 cause a similar phenotype ...
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Article
Mutation analysis in Bardet–Biedl syndrome by DNA pooling and massively parallel resequencing in 105 individuals
Bardet–Biedl syndrome (BBS) is a rare, primarily autosomal-recessive ciliopathy. The phenotype of this pleiotropic disease includes retinitis pigmentosa, postaxial polydactyly, truncal obesity, learning disabi...
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Article
TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum
Nicholas Katsanis and colleagues show that biallelic mutations in TTC21B, encoding the retrograde intraflagellar transport protein IFT139, are associated with diverse ciliopathy phenotypes in humans. They further...
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Article
Correction: Corrigendum: TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum
Nat. Genet. 43, 189–196 (2011); published online 23 January 2011; corrected after print 29 March 2011 In the version of this article initially published, the authors should have acknowledged that the work was ...
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Article
KIF7 mutations cause fetal hydrolethalus and acrocallosal syndromes
Tania Attié-Bitach and colleagues report that biallelic mutations in KIF7, a component of the Hedgehog signaling pathway, cause hydrolethalus and acrocallosal syndromes. They also present evidence that heterozygo...
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Article
Gene therapy rescues cilia defects and restores olfactory function in a mammalian ciliopathy model
Ciliopathies are caused by alterations in the development and function of cilia. Now Jeffrey Martens and his colleagues demonstrate anatomic and functional rescue of cilia development in mature, differentiated...
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Article
Identification of cis-suppression of human disease mutations by comparative genomics
Patterns of amino acid conservation have been used to guide the interpretation of the disease-causing potential of genetic variants in patients; now, an appreciable fraction of pathogenic alleles are shown to ...
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Article
Open AccessRapid and Efficient Generation of Transgene-Free iPSC from a Small Volume of Cryopreserved Blood
Human peripheral blood and umbilical cord blood represent attractive sources of cells for reprogramming to induced pluripotent stem cells (iPSCs). However, to date, most of the blood-derived iPSCs were generat...
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Article
Open AccessAn organelle-specific protein landscape identifies novel diseases and molecular mechanisms
Cellular organelles provide opportunities to relate biological mechanisms to disease. Here we use affinity proteomics, genetics and cell biology to interrogate cilia: poorly understood organelles, where defect...
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Article
SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome
Michael Talkowski, David FitzPatrick, Erica Davis and colleagues report rare inherited or de novo missense variants in SMCHD1 in arhinia patients. Some of the same mutations in SMCHD1 are known to cause a phenoty...
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Article
Correction: Corrigendum: SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome
Nat. Genet. 49, 238–248 (2017); published online 9 January 2017; corrected after print 20 March 2017 In the version of this article initially published, the legend to Figure 4c stated that only one proband wit...
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Article
Open AccessPartial uniparental isodisomy of chromosome 16 unmasks a deleterious biallelic mutation in IFT140 that causes Mainzer-Saldino syndrome
The ciliopathies represent an umbrella group of >50 clinical entities that share both clinical features and molecular etiology underscored by structural and functional defects of the primary cilium. Despite th...
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Article
Open AccessZebrafish knockout of Down syndrome gene, DYRK1A, shows social impairments relevant to autism
DYRK1A maps to the Down syndrome critical region at 21q22. Mutations in this kinase-encoding gene have been reported to cause microcephaly associated with either intellectual disabilit...
