Associated Papers
[A family report on congenital fibrosis of extraocular muscles syndrome caused by TUBB3 gene mutation].
Li M et al.
Zhong Nan Da Xue Xue Bao. Yi Xue Ban = Journal of Central South University. Medical Sciences, 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
TUBB3 and KIF21A in neurodevelopment and disease.
Puri D et al.
Frontiers in Neuroscience, 2023
Infantile esotropia in a family with TUBB3 mutation associated congenital fibrosis of extraocular muscles.
Jang Y et al.
Ophthalmic Genetics, 2022
Are transient protein-protein interactions more dispensable?
Ghadie MA et al.
Plos Computational Biology, 2022
TUBB3 Arg262His causes a recognizable syndrome including CFEOM3, facial palsy, joint contractures, and early-onset peripheral neuropathy.
Whitman MC et al.
Human Genetics, 2021
Axonal Growth Abnormalities Underlying Ocular Cranial Nerve Disorders.
Whitman MC
Annual Review of Vision Science, 2021
Revisiting the Role of ß-Tubulin in Drosophila Development: β-tubulin60D is not an Essential Gene, and its Novel Pin 1 Allele has a Tissue-Specific Dominant-Negative Impact.
Krishnan RK et al.
Frontiers in Cell and Developmental Biology, 2021
Mutation Edgotype Drives Fitness Effect in Human.
Ghadie M et al.
Frontiers in Bioinformatics, 2021
Tubulin mutations in neurodevelopmental disorders as a tool to decipher microtubule function.
Fourel G et al.
Febs Letters, 2020
The recurrent TUBB3 Gly98Ser substitution is the first described to inconsistently result in CFEOM3.
Smith SC et al.
American Journal of Medical Genetics. Part A, 2020
TUBB3 E410K syndrome: Case report and review of the clinical spectrum of TUBB3 mutations.
Dentici ML et al.
American Journal of Medical Genetics. Part A, 2020
Tubulin mutations in brain development disorders: Why haploinsufficiency does not explain TUBA1A tubulinopathies.
Aiken J et al.
Cytoskeleton (hoboken, N.j.), 2020
Disease-associated mutations in human TUBB3 disturb netrin repulsive signaling.
Shao Q et al.
Plos One, 2019
Human TUBB3 Mutations Disrupt Netrin Attractive Signaling.
Huang H et al.
Neuroscience, 2018
Distinct effects of tubulin isotype mutations on neurite growth in Caenorhabditis elegans.
Zheng C et al.
Molecular Biology of the Cell, 2017
Ocular congenital cranial dysinnervation disorders (CCDDs): insights into axon growth and guidance.
Whitman MC et al.
Human Molecular Genetics, 2017
A mutation in the Tubb4a gene leads to microtubule accumulation with hypomyelination and demyelination.
Duncan ID et al.
Annals of Neurology, 2017
A novel TUBB3 mutation in a sporadic patient with asymmetric cortical dysplasia.
Shimojima K et al.
American Journal of Medical Genetics. Part A, 2016
Two unique TUBB3 mutations cause both CFEOM3 and malformations of cortical development.
Whitman MC et al.
American Journal of Medical Genetics. Part A, 2016
The congenital cranial dysinnervation disorders.
Gutowski NJ et al.
Archives of Disease in Childhood, 2015
Congenital and Genetic Ocular Motility Disorders: Update and Considerations.
Oystreck D
The American Orthoptic Journal, 2015
Microtubules and neurodevelopmental disease: the movers and the makers.
Breuss M et al.
Advances in Experimental Medicine and Biology, 2014
Congenital cranial dysinnervation disorders: a concept in evolution.
Bosley TM et al.
Current Opinion in Ophthalmology, 2013
Mutations in the neuronal ß-tubulin subunit TUBB3 result in malformation of cortical development and neuronal migration defects.
Poirier K et al.
Human Molecular Genetics, 2010
Human TUBB3 mutations perturb microtubule dynamics, kinesin interactions, and axon guidance.
Tischfield MA et al.
Cell, 2010
The genetic basis of incomitant strabismus: consolidation of the current knowledge of the genetic foundations of disease.
Graeber CP et al.
Seminars in Ophthalmology, 0
Clinical heterogeneity associated with TUBB3 gene mutation in a Turkish family with congenital fibrosis of the extraocular muscles.
Ceylan AC et al.
Ophthalmic Genetics, 0