Homozygous STIL Mutation Causes Holoprosencephaly and Microcephaly in Two Siblings
Published 2015 View Full Article
- Home
- Publications
- Publication Search
- Publication Details
Title
Homozygous STIL Mutation Causes Holoprosencephaly and Microcephaly in Two Siblings
Authors
Keywords
Centrioles, Microcephaly, RNA interference, Deletion mutation, Mutation, Mutation databases, Small interfering RNAs, Embryos
Journal
PLoS One
Volume 10, Issue 2, Pages e0117418
Publisher
Public Library of Science (PLoS)
Online
2015-02-07
DOI
10.1371/journal.pone.0117418
References
Ask authors/readers for more resources
Related references
Note: Only part of the references are listed.- Characterization of the human oncogene SCL/TAL1 interrupting locus (Stil) mediated Sonic hedgehog (Shh) signaling transduction in proliferating mammalian dopaminergic neurons
- (2014) Lei Sun et al. BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS
- FSuite: exploiting inbreeding in dense SNP chip and exome data
- (2014) Steven Gazal et al. BIOINFORMATICS
- STIL Microcephaly Mutations Interfere with APC/C-Mediated Degradation and Cause Centriole Amplification
- (2014) Christian Arquint et al. CURRENT BIOLOGY
- Centrosome amplification causes microcephaly
- (2013) Véronique Marthiens et al. NATURE CELL BIOLOGY
- Meier-Gorlin syndrome: Growth and secondary sexual development of a microcephalic primordial dwarfism disorder
- (2012) Sonja A. de Munnik et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART A
- Investigation of primary microcephaly in Bushehr province of Iran: novelSTILand ASPMmutations
- (2012) E Papari et al. CLINICAL GENETICS
- NODAL and SHH dose-dependent double inhibition promotes an HPE-like phenotype in chick embryos
- (2012) S. Mercier et al. Disease Models & Mechanisms
- STIL is required for centriole duplication in human cells
- (2012) J. Vulprecht et al. JOURNAL OF CELL SCIENCE
- Mutations in CDON, Encoding a Hedgehog Receptor, Result in Holoprosencephaly and Defective Interactions with Other Hedgehog Receptors
- (2011) Gyu-Un Bae et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Improving the Assessment of the Outcome of Nonsynonymous SNVs with a Consensus Deleteriousness Score, Condel
- (2011) Abel González-Pérez et al. AMERICAN JOURNAL OF HUMAN GENETICS
- The human microcephaly protein STIL interacts with CPAP and is required for procentriole formation
- (2011) Chieh-Ju C Tang et al. EMBO JOURNAL
- Missense substitutions in the GAS1 protein present in holoprosencephaly patients reduce the affinity for its ligand, SHH
- (2011) Daniel E. Pineda-Alvarez et al. HUMAN GENETICS
- NOTCH, a new signaling pathway implicated in holoprosencephaly
- (2011) V. Dupe et al. HUMAN MOLECULAR GENETICS
- dbNSFP: A lightweight database of human nonsynonymous SNPs and their functional predictions
- (2011) Xiaoming Liu et al. HUMAN MUTATION
- Chymotrypsin C (Caldecrin) Is Associated with Enamel Development
- (2011) R.S. Lacruz et al. JOURNAL OF DENTAL RESEARCH
- New findings for phenotype-genotype correlations in a large European series of holoprosencephaly cases
- (2011) S. Mercier et al. JOURNAL OF MEDICAL GENETICS
- Mutations in ORC1, encoding the largest subunit of the origin recognition complex, cause microcephalic primordial dwarfism resembling Meier-Gorlin syndrome
- (2011) Louise S Bicknell et al. NATURE GENETICS
- CDK11p58 Is Required for Centriole Duplication and Plk4 Recruitment to Mitotic Centrosomes
- (2011) Nathalie Franck et al. PLoS One
- Holoprosencephaly: An update on cytogenetic abnormalities
- (2010) Claude Bendavid et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS
- A clinical and molecular genetic study of 112 Iranian families with primary microcephaly
- (2010) H. Darvish et al. JOURNAL OF MEDICAL GENETICS
- ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data
- (2010) K. Wang et al. NUCLEIC ACIDS RESEARCH
- Mutations in STIL, Encoding a Pericentriolar and Centrosomal Protein, Cause Primary Microcephaly
- (2009) Arun Kumar et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Orc1 Controls Centriole and Centrosome Copy Number in Human Cells
- (2009) A. S. Hemerly et al. SCIENCE
- SCL/TAL1 Interrupting Locus Derepresses GLI1 from the Negative Control of Suppressor-of-Fused in Pancreatic Cancer Cell
- (2008) K. Kasai et al. CANCER RESEARCH
Publish scientific posters with Peeref
Peeref publishes scientific posters from all research disciplines. Our Diamond Open Access policy means free access to content and no publication fees for authors.
Learn MoreAsk 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