Associated Papers
Phenotype, genotype, and management of congenital fibrosis of extraocular muscles type 1 in 16 Chinese families.
Chen M et al.
Graefe's Archive for Clinical and Experimental Ophthalmology = Albrecht Von Graefes Archiv Fur Klinische Und Experimentelle Ophthalmologie, 2023
TUBB3 and KIF21A in neurodevelopment and disease.
Puri D et al.
Frontiers in Neuroscience, 2023
Clinical and genetic characteristics of Chinese patients with congenital cranial dysinnervation disorders.
Jia H et al.
Orphanet Journal of Rare Diseases, 2022
Precision Medicine through Next-Generation Sequencing in Inherited Eye Diseases in a Korean Cohort.
Moon D et al.
Genes, 2021
KIF21A pathogenic variants cause congenital fibrosis of extraocular muscles type 3.
Al-Haddad C et al.
Ophthalmic Genetics, 2021
Clinical characteristics of a KIF21A mutation in a Chinese family with congenital fibrosis of the extraocular muscles type 1.
Chen H et al.
Medicine, 2017
KIF21A mutation in two Chinese families with congenital fibrosis of the extraocular muscles type 1 and 3.
Chen J et al.
Molecular Medicine Reports, 2016
Structural basis for misregulation of kinesin KIF21A autoinhibition by CFEOM1 disease mutations.
Bianchi S et al.
Scientific Reports, 2016
Human CFEOM1 mutations attenuate KIF21A autoinhibition and cause oculomotor axon stalling.
Cheng L et al.
Neuron, 2014
A novel de novo KIF21A mutation in a patient with congenital fibrosis of the extraocular muscles and Möbius syndrome.
Ali Z et al.
Molecular Vision, 2014
CFEOM1-associated kinesin KIF21A is a cortical microtubule growth inhibitor.
van der Vaart B et al.
Developmental Cell, 2013
[The gene mutation screening of a family with congenital fibrosis of the extraocular muscles associated with corpus callosum agenesis].
Zhang JT et al.
[zhonghua Yan Ke Za Zhi] Chinese Journal of Ophthalmology, 2013
KIF21A novel deletion and recurrent mutation in patients with congenital fibrosis of the extraocular muscles-1.
Wang P et al.
International Journal of Molecular Medicine, 2011
Lack of KIF21A mutations in congenital fibrosis of the extraocular muscles type I patients from consanguineous Saudi Arabian families.
Khan AO et al.
Molecular Vision, 2011
KIF21A mutations in two Chinese families with congenital fibrosis of the extraocular muscles (CFEOM).
Yang X et al.
Molecular Vision, 2010
Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.
Ryu GM et al.
Nucleic Acids Research, 2009
Three novel mutations in KIF21A highlight the importance of the third coiled-coil stalk domain in the etiology of CFEOM1.
Chan WM et al.
Bmc Genetics, 2007
Magnetic resonance imaging evidence for widespread orbital dysinnervation in congenital fibrosis of extraocular muscles due to mutations in KIF21A.
Demer JL et al.
Investigative Ophthalmology & Visual Science, 2005
Mutation analysis of the KIF21A gene in an Indian family with CFEOM1: implication of CpG methylation for most frequent mutations.
Ali M et al.
Ophthalmic Genetics, 2004
Heterozygous mutations of the kinesin KIF21A in congenital fibrosis of the extraocular muscles type 1 (CFEOM1).
Yamada K et al.
Nature Genetics, 2003
Recurrent mutation of the KIF21A gene in Japanese patients with congenital fibrosis of the extraocular muscles.
Shimizu S et al.
Japanese Journal of Ophthalmology, 0
KIF21A Gene c.2860C>T Mutation in CFEOM1A: The First Report from Iran.
Ramahi M et al.
Avicenna Journal of Medical Biotechnology, 0