Associated Papers
Clinical and MRI differences in congenital fibrosis of extraocular muscles patients with KIF21A and TUBB3 variants.
Wang D et al.
Japanese Journal of Ophthalmology, 2026
Expanding the genetics and phenotypes of ocular congenital cranial dysinnervation disorders.
Jurgens JA et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2025
Genomic reanalysis of a pan-European rare-disease resource yields new diagnoses.
Laurie S et al.
Nature Medicine, 2025
Clinical and genetic characteristics of Chinese patients with congenital fibrosis of the extraocular muscles.
Wu J et al.
Orphanet Journal of Rare Diseases, 2024
Genetic investigation in a four-generation Chinese family with congenital fibrosis of extraocular muscles and keratoconus.
Lin Q et al.
Heliyon, 2024
Expanding the genetics and phenotypes of ocular congenital cranial dysinnervation disorders.
Jurgens JA et al.
Medrxiv : the Preprint Server for Health Sciences, 2024
Phenotypic heterogeneity associated with KIF21A: Two new cases and review of the literature.
Bhola PT et al.
American Journal of Medical Genetics. Part A, 2024
Kif21a deficiency leads to impaired glomerular filtration barrier function.
Riedmann H et al.
Scientific Reports, 2023
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
Advances in the Genetics of Congenital Ptosis.
Wu P et al.
Ophthalmic Research, 2022
Axonal Growth Abnormalities Underlying Ocular Cranial Nerve Disorders.
Whitman MC
Annual Review of Vision Science, 2021
KIF21A pathogenic variants cause congenital fibrosis of extraocular muscles type 3.
Al-Haddad C et al.
Ophthalmic Genetics, 2021
Optic Nerve Head and Retinal Abnormalities Associated with Congenital Fibrosis of the Extraocular Muscles.
Thomas MG et al.
International Journal of Molecular Sciences, 2021
Outcomes of strabismus surgery in genetically confirmed congenital fibrosis of the extraocular muscles.
Heidary G et al.
Journal of Aapos : the Official Publication of the American Association for Pediatric Ophthalmology and Strabismus, 2019
Structural analyses of key features in the KANK1·KIF21A complex yield mechanistic insights into the cross-talk between microtubules and the cell cortex.
Weng Z et al.
The Journal of Biological Chemistry, 2018
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
Ocular congenital cranial dysinnervation disorders (CCDDs): insights into axon growth and guidance.
Whitman MC et al.
Human Molecular Genetics, 2017
Axons get ahead: Insights into axon guidance and congenital cranial dysinnervation disorders.
Chilton JK et al.
Developmental Neurobiology, 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
A rare case of congenital fibrosis of extraocular muscle type 1A due to KIF21A mutation with Marcus Gunn jaw-winking phenomenon.
Kaçar Bayram A et al.
European Journal of Paediatric Neurology : Ejpn : Official Journal of the European Paediatric Neurology Society, 2015
The congenital cranial dysinnervation disorders.
Gutowski NJ et al.
Archives of Disease in Childhood, 2015
Human CFEOM1 mutations attenuate KIF21A autoinhibition and cause oculomotor axon stalling.
Cheng L et al.
Neuron, 2014
Maternal germline mosaicism of kinesin family member 21A (KIF21A) mutation causes complex phenotypes in a Chinese family with congenital fibrosis of the extraocular muscles.
Liu G et al.
Molecular Vision, 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
Inherited KIF21A and PAX6 gene mutations in a boy with congenital fibrosis of extraocular muscles and aniridia.
Ying M et al.
Bmc Medical Genetics, 2013
[R954 mutations in KIF21A gene in Chinese patients with congenital fibrosis of extraocular muscles].
Li ND et al.
[zhonghua Yan Ke Za Zhi] Chinese Journal of Ophthalmology, 2012
[A family of congenital fibrosis of extraocular muscles associated with naso-sinusitis].
Zhou LH et al.
[zhonghua Yan Ke Za Zhi] Chinese Journal of Ophthalmology, 2012
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
The optic nerve head in congenital fibrosis of the extraocular muscles.
Khan AO et al.
Ophthalmic Genetics, 2011
Allelic diversity in human developmental neurogenetics: insights into biology and disease.
Walsh CA et al.
Neuron, 2010
KIF21A mutations in two Chinese families with congenital fibrosis of the extraocular muscles (CFEOM).
Yang X et al.
Molecular Vision, 2010
Human genetic disorders of axon guidance.
Engle EC
Cold Spring Harbor Perspectives in Biology, 2010
Germline Mosaicism for KIF21A Mutation (p.R954L) Mimicking Recessive Inheritance for Congenital Fibrosis of the Extraocular Muscles.
Khan AO et al.
Ophthalmology, 2010
A major mutation of KIF21A associated with congenital fibrosis of the extraocular muscles type 1 (CFEOM1) enhances translocation of Kank1 to the membrane.
Kakinuma N et al.
Biochemical and Biophysical Research Communications, 2009
Congenital fibrosis of the extraocular muscles type 1, distinctive conjunctival changes and intrapapillary disc colobomata.
Flaherty MP et al.
Ophthalmic Genetics, 2009
Novel and recurrent KIF21A mutations in congenital fibrosis of the extraocular muscles type 1 and 3.
Lu S et al.
Archives of Ophthalmology (chicago, Ill. : 1960), 2008
Congential fibrosis of the extraocular muscles type I (CFEOM1) on the Arabian Peninsula.
Khan AO et al.
Ophthalmic Genetics, 2008
Congenital fibrosis of the extraocular muscles (CFEOM) syndrome associated with progressive cerebellar ataxia.
Yoshida K et al.
American Journal of Medical Genetics. Part A, 2007
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
Mutation p.Arg954Trp of KIF21A causes congenital fibrosis of the extraocular muscles in a Chinese family.
Zhang XQ et al.
Yi Chuan Xue Bao = Acta Genetica Sinica, 2006
Congenital fibrosis of extraocular muscles type 1 with progression of ophthalmoplegia.
Hanisch F et al.
European Journal of Medical Research, 2005