14 Result(s)

Article

Evidence for secondary-variant genetic burden and non-random distribution across biological modules in a recessive ciliopathy

The influence of genetic background on driver mutations is well established; however, the mechanisms by which the background interacts with Mendelian loci remain unclear. We performed a systematic secondary-va...

Maria Kousi, Onuralp Söylemez, Aysegül Ozanturk, Niki Mourtzi… in Nature Genetics (2020)

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...

Natalie D Shaw, Harrison Brand, Zachary A Kupchinsky, Hemant Bengani… in Nature Genetics (2017)

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...

Audrey Putoux, Sophie Thomas, Karlien L M Coene, Erica E Davis… in Nature Genetics (2011)

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...

Erica E Davis, Qi Zhang, Qin Liu, Bill H Diplas, Lisa M Davey… in Nature Genetics (2011)

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 ...

Anne-Christine Merveille, Erica E Davis, Anita Becker-Heck… in Nature Genetics (2011)

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...

Enza Maria Valente, Clare V Logan, Soumaya Mougou-Zerelli, Jeong Ho Lee… in Nature Genetics (2010)

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...

Hemant Khanna, Erica E Davis, Carlos A Murga-Zamalloa… in Nature Genetics (2009)

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...

Carmen C Leitch, Norann A Zaghloul, Erica E Davis, Corinne Stoetzel… in Nature Genetics (2008)

Article

The ciliary proteome database: an integrated community resource for the genetic and functional dissection of cilia

Adrian Gherman, Erica E Davis, Nicholas Katsanis in Nature Genetics (2006)

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,...

Corinne Stoetzel, Virginie Laurier, Erica E Davis, Jean Muller… in Nature Genetics (2006)