Mutations in human homologue of chickentalpid3gene (KIAA0586) cause a hybrid ciliopathy with overlapping features of Jeune and Joubert syndromes
出版年份 2015 全文链接
标题
Mutations in human homologue of chickentalpid3gene (KIAA0586) cause a hybrid ciliopathy with overlapping features of Jeune and Joubert syndromes
作者
关键词
-
出版物
JOURNAL OF MEDICAL GENETICS
Volume 52, Issue 12, Pages 830-839
出版商
BMJ
发表日期
2015-09-19
DOI
10.1136/jmedgenet-2015-103316
参考文献
相关参考文献
注意:仅列出部分参考文献,下载原文获取全部文献信息。- Mutations in KIAA0586 Cause Lethal Ciliopathies Ranging from a Hydrolethalus Phenotype to Short-Rib Polydactyly Syndrome
- (2015) Caroline Alby et al. AMERICAN JOURNAL OF HUMAN GENETICS
- KIAA0586is Mutated in Joubert Syndrome
- (2015) Ruxandra Bachmann-Gagescu et al. HUMAN MUTATION
- Functional genome-wide siRNA screen identifies KIAA0586 as mutated in Joubert syndrome
- (2015) Susanne Roosing et al. eLife
- Mutations in CSPP1 Cause Primary Cilia Abnormalities and Joubert Syndrome with or without Jeune Asphyxiating Thoracic Dystrophy
- (2014) Karina Tuz et al. AMERICAN JOURNAL OF HUMAN GENETICS
- A founder CEP120 mutation in Jeune asphyxiating thoracic dystrophy expands the role of centriolar proteins in skeletal ciliopathies
- (2014) Ranad Shaheen et al. HUMAN MOLECULAR GENETICS
- The CP110-interacting proteins Talpid3 and Cep290 play overlapping and distinct roles in cilia assembly
- (2014) Tetsuo Kobayashi et al. JOURNAL OF CELL BIOLOGY
- Talpid3-Binding Centrosomal Protein Cep120 Is Required for Centriole Duplication and Proliferation of Cerebellar Granule Neuron Progenitors
- (2014) Chuanqing Wu et al. PLoS One
- Loss of cilia causes embryonic lung hypoplasia, liver fibrosis, and cholestasis in thetalpid3ciliopathy mutant
- (2014) Megan G Davey et al. Organogenesis
- Ataxia, Intellectual Disability, and Ocular Apraxia with Cerebellar Cysts: A New Disease?
- (2013) Andrea Poretti et al. CEREBELLUM
- Failure of centrosome migration causes a loss of motile cilia intalpid3mutants
- (2013) Louise A. Stephen et al. DEVELOPMENTAL DYNAMICS
- Joubert syndrome: congenital cerebellar ataxia with the molar tooth
- (2013) Marta Romani et al. LANCET NEUROLOGY
- The mechanisms of Hedgehog signalling and its roles in development and disease
- (2013) James Briscoe et al. NATURE REVIEWS MOLECULAR CELL BIOLOGY
- VarSifter: Visualizing and analyzing exome-scale sequence variation data on a desktop computer
- (2012) Jamie K. Teer et al. BIOINFORMATICS
- Targeted mutation of the talpid3 gene in zebrafish reveals its conserved requirement for ciliogenesis and Hedgehog signalling across the vertebrates
- (2011) J. Ben et al. DEVELOPMENT
- Generation of mice with functional inactivation of talpid3, a gene first identified in chicken
- (2011) F. Bangs et al. DEVELOPMENT
- Homozygosity Mapping and Whole-Exome Sequencing to Detect SLC45A2 and G6PC3 Mutations in a Single Patient with Oculocutaneous Albinism and Neutropenia
- (2011) Andrew R. Cullinane et al. JOURNAL OF INVESTIGATIVE DERMATOLOGY
- Ofd1, a Human Disease Gene, Regulates the Length and Distal Structure of Centrioles
- (2010) Veena Singla et al. DEVELOPMENTAL CELL
- Exome sequencing: the sweet spot before whole genomes
- (2010) J. K. Teer et al. HUMAN MOLECULAR GENETICS
- Cep120 is asymmetrically localized to the daughter centriole and is essential for centriole assembly
- (2010) Moe R. Mahjoub et al. JOURNAL OF CELL BIOLOGY
- The Talpid3 gene (KIAA0586) encodes a centrosomal protein that is essential for primary cilia formation
- (2009) Y. Yin et al. DEVELOPMENT
- Solution hybrid selection with ultra-long oligonucleotides for massively parallel targeted sequencing
- (2009) Andreas Gnirke et al. NATURE BIOTECHNOLOGY
- Accurate whole human genome sequencing using reversible terminator chemistry
- (2008) David R. Bentley et al. NATURE
Find Funding. Review Successful Grants.
Explore over 25,000 new funding opportunities and over 6,000,000 successful grants.
ExploreAsk a Question. Answer a Question.
Quickly pose questions to the entire community. Debate answers and get clarity on the most important issues facing researchers.
Get Started