Elizabeth C Engle Selected Research

Kinesins

1/2017	Ocular congenital cranial dysinnervation disorders (CCDDs): insights into axon growth and guidance.
4/2014	Human CFEOM1 mutations attenuate KIF21A autoinhibition and cause oculomotor axon stalling.
2/2013	A novel syndrome caused by the E410K amino acid substitution in the neuronal β-tubulin isotype 3.
12/2012	An inherited TUBB2B mutation alters a kinesin-binding site and causes polymicrogyria, CFEOM and axon dysinnervation.
5/2012	Spatiotemporal expression pattern of KIF21A during normal embryonic development and in congenital fibrosis of the extraocular muscles type 1 (CFEOM1).
10/2010	KIF21A mutations in two Chinese families with congenital fibrosis of the extraocular muscles (CFEOM).
9/2005	A novel KIF21A mutation in a patient with congenital fibrosis of the extraocular muscles and Marcus Gunn jaw-winking phenomenon.
2/2005	Magnetic resonance imaging evidence for widespread orbital dysinnervation in congenital fibrosis of extraocular muscles due to mutations in KIF21A.
12/2003	Heterozygous mutations of the kinesin KIF21A in congenital fibrosis of the extraocular muscles type 1 (CFEOM1).

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Elizabeth C Engle Research Topics

Disease

18	congenital fibrosis of the extraocular muscles 12/2021 - 04/2002
6	Strabismus (Squint) 01/2016 - 09/2005
5	Nervous System Diseases (Neurological Disorders) 01/2020 - 01/2010
5	Duane Retraction Syndrome (Duane Syndrome) 05/2017 - 12/2007
5	3B Congenital Fibrosis of Extraocular Muscles 04/2014 - 12/2003
3	Malformations of Cortical Development 12/2021 - 02/2016
3	2 Congenital Fibrosis Of Extraocular Muscles 01/2016 - 11/2003
2	Esotropia (Esophoria) 01/2020 - 01/2018
2	Kallmann Syndrome (Kallmann's Syndrome) 03/2015 - 02/2013
1	Ependymoma 10/2021
1	Glioma (Gliomas) 10/2021
1	Neurodevelopmental Disorders 01/2021
1	Atrophy 01/2020
1	Arthrogryposis 12/2019
1	Synkinesis 01/2019
1	Lissencephaly 12/2018
1	Colorectal Neoplasms (Colorectal Cancer) 01/2018
1	Psychotic Disorders (Schizoaffective Disorder) 05/2016
1	Autism Spectrum Disorder 05/2016
1	Low Vision (Subnormal Vision) 01/2016
1	Hypogonadism (Hypergonadotropic Hypogonadism) 03/2015
1	Anosmia 03/2015
1	Menkes Kinky Hair Syndrome (Menkes Disease) 02/2015
1	Neurodegenerative Diseases (Neurodegenerative Disease) 02/2015
1	Ocular Motility Disorders (Convergence Insufficiency) 04/2014
1	Optic Nerve Hypoplasia 03/2014
1	Muscular Diseases (Myopathy) 12/2013
1	Malignant Hyperthermia 12/2013
1	Ophthalmoplegia (External Ophthalmoplegia) 12/2013
1	Polymicrogyria 12/2012
1	Hearing Loss (Hearing Impairment) 04/2012
1	Color Vision Defects (Color Blindness) 08/2011
1	Cataract (Cataracts) 01/2011
1	Deafness (Deaf Mutism) 01/2007
1	Marcus Gunn phenomenon 09/2005
1	Congenital Cranial Dysinnervation Disorders 04/2002

Drug/Important Bio-Agent (IBA)

13	Proteins (Proteins, Gene)FDA Link 01/2020 - 04/2002
11	TubulinIBA 12/2021 - 01/2010
9	KinesinsIBA 01/2017 - 12/2003
5	Retinaldehyde (Retinal)IBA 03/2021 - 08/2011
4	Transcription Factors (Transcription Factor)IBA 12/2007 - 04/2002
2	EnzymesIBA 10/2021 - 02/2015
1	NucleotidesIBA 10/2021
1	Monoclonal AntibodiesIBA 10/2021
1	MicroRNAs (MicroRNA)IBA 01/2020
1	Long Noncoding RNAIBA 01/2020
1	LigandsIBA 01/2019
1	Chemokine ReceptorsIBA 01/2019
1	SpectrinIBA 12/2018
1	Tryptophan (L-Tryptophan)FDA Link 01/2018
1	DCC ReceptorIBA 01/2018
1	Netrin-1IBA 01/2018
1	EphrinsIBA 05/2017
1	Proteasome Endopeptidase Complex (Proteasome)IBA 05/2016
1	UbiquitinIBA 05/2016
1	CopperIBA 02/2015
1	microtubule-associated protein 1B (MAP5)IBA 04/2014
1	Anesthetics (Anesthetic Agents)IBA 12/2013
1	Ryanodine Receptor Calcium Release Channel (Ryanodine Receptor)IBA 12/2013
1	DNA (Deoxyribonucleic Acid)IBA 02/2013
1	triadinIBA 05/2012
1	Protein Isoforms (Isoforms)IBA 05/2012
1	Coenzyme A (CoA)IBA 04/2012
1	Guanosine Triphosphate (GTP)IBA 08/2011
1	Crystallins (Crystallin)IBA 01/2011
1	Microtubule-Associated Proteins (Microtubule-Associated Protein 2)IBA 04/2010
1	Amino Acids FDA Link 05/2007
1	Biological ProductsIBA 03/2006
1	Nonsense Codon (Nonsense Mutation)IBA 11/2003

Therapy/Procedure

1	Precision Medicine 01/2020
1	Telescopes 08/2011
1	Toothbrushing 09/2005
1	Slit Lamp 11/2003