标题
Biallelic variants in KIF14 cause intellectual disability with microcephaly
作者
关键词
-
出版物
EUROPEAN JOURNAL OF HUMAN GENETICS
Volume 26, Issue 3, Pages 330-339
出版商
Springer Nature
发表日期
2018-01-17
DOI
10.1038/s41431-017-0088-9
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。- Citron Kinase Deficiency Leads to Chromosomal Instability and TP53-Sensitive Microcephaly
- (2017) Federico Tommaso Bianchi et al. Cell Reports
- Biallelic Mutations in Citron Kinase Link Mitotic Cytokinesis to Human Primary Microcephaly
- (2016) Hongda Li et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Mutations in Citron Kinase Cause Recessive Microlissencephaly with Multinucleated Neurons
- (2016) Brian N. Harding et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Analysis of protein-coding genetic variation in 60,706 humans
- (2016) Monkol Lek et al. NATURE
- Characterization of Greater Middle Eastern genetic variation for enhanced disease gene discovery
- (2016) Eric M Scott et al. NATURE GENETICS
- CATCHing putative causative variants in consanguineous families
- (2015) Federico Andrea Santoni et al. BMC BIOINFORMATICS
- GeneMatcher: A Matching Tool for Connecting Investigators with an Interest in the Same Gene
- (2015) Nara Sobreira et al. HUMAN MUTATION
- Diagnostic Exome Sequencing to Elucidate the Genetic Basis of Likely Recessive Disorders in Consanguineous Families
- (2014) Periklis Makrythanasis et al. HUMAN MUTATION
- KIF14 Binds Tightly to Microtubules and Adopts a Rigor-Like Conformation
- (2014) Kritica Arora et al. JOURNAL OF MOLECULAR BIOLOGY
- MutationTaster2: mutation prediction for the deep-sequencing age
- (2014) Jana Marie Schwarz et al. NATURE METHODS
- Prime movers: the mechanochemistry of mitotic kinesins
- (2014) Robert A. Cross et al. NATURE REVIEWS MOLECULAR CELL BIOLOGY
- A Targeted RNAi Screen of the Breast Cancer Genome Identifies KIF14 and TLN1 as Genes That Modulate Docetaxel Chemosensitivity in Triple-Negative Breast Cancer
- (2013) S. M. Singel et al. CLINICAL CANCER RESEARCH
- Exome sequencing identifies mutations inKIF14as a novel cause of an autosomal recessive lethal fetal ciliopathy phenotype
- (2013) I. Filges et al. CLINICAL GENETICS
- Kif14 Mutation Causes Severe Brain Malformation and Hypomyelination
- (2013) Kohei Fujikura et al. PLoS One
- The Motor Protein KIF14 Inhibits Tumor Growth and Cancer Metastasis in Lung Adenocarcinoma
- (2013) Pei-Fang Hung et al. PLoS One
- Kinesin motors and primary cilia
- (2012) Kristen J. Verhey et al. BIOCHEMICAL SOCIETY TRANSACTIONS
- An integrative variant analysis suite for whole exome next-generation sequencing data
- (2012) Danny Challis et al. BMC BIOINFORMATICS
- Predicting the Functional Effect of Amino Acid Substitutions and Indels
- (2012) Yongwook Choi et al. PLoS One
- The CC1-FHA Tandem as a Central Hub for Controlling the Dimerization and Activation of Kinesin-3 KIF1A
- (2012) Lin Huo et al. STRUCTURE
- Kinesin Assembly and Movement in Cells
- (2011) Kristen J. Verhey et al. Annual Review of Biophysics
- Kinesin family member 14: An independent prognostic marker and potential therapeutic target for ovarian cancer
- (2011) Brigitte L. Thériault et al. INTERNATIONAL JOURNAL OF CANCER
- Targeted enrichment beyond the consensus coding DNA sequence exome reveals exons with higher variant densities
- (2011) Matthew N Bainbridge et al. GENOME BIOLOGY
- Loop L5 Acts as a Conformational Latch in the Mitotic Kinesin Eg5
- (2010) William M. Behnke-Parks et al. JOURNAL OF BIOLOGICAL CHEMISTRY
- A method and server for predicting damaging missense mutations
- (2010) Ivan A Adzhubei et al. NATURE METHODS
- Kinesin superfamily motor proteins and intracellular transport
- (2009) Nobutaka Hirokawa et al. NATURE REVIEWS MOLECULAR CELL BIOLOGY
- Mouse Kif7/Costal2 is a cilia-associated protein that regulates Sonic hedgehog signaling
- (2009) K. F. Liem et al. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
- Structures of kinesin motor proteins
- (2009) Alexander Marx et al. CELL MOTILITY AND THE CYTOSKELETON
Add your recorded webinar
Do you already have a recorded webinar? Grow your audience and get more views by easily listing your recording on Peeref.
Upload NowBecome a Peeref-certified reviewer
The Peeref Institute provides free reviewer training that teaches the core competencies of the academic peer review process.
Get Started