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Hannah M Mitchison Selected Research

Situs Inversus

12/2018Mutations in Outer Dynein Arm Heavy Chain DNAH9 Cause Motile Cilia Defects and Situs Inversus.
1/2014Combined exome and whole-genome sequencing identifies mutations in ARMC4 as a cause of primary ciliary dyskinesia with defects in the outer dynein arm.
3/2012Mutations in axonemal dynein assembly factor DNAAF3 cause primary ciliary dyskinesia.
8/2002Mutations in the DNAH11 (axonemal heavy chain dynein type 11) gene cause one form of situs inversus totalis and most likely primary ciliary dyskinesia.

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Hannah M Mitchison Research Topics

Disease

17Ciliary Motility Disorders (Primary Ciliary Dyskinesia)
10/2021 - 08/2002
10Ciliopathies
01/2021 - 08/2013
8Neuronal Ceroid-Lipofuscinoses (Neuronal Ceroid Lipofuscinosis)
03/2018 - 04/2002
4Situs Inversus
12/2018 - 08/2002
4Jeune syndrome
03/2015 - 05/2013
3Infertility (Sterility)
12/2018 - 01/2013
2Hydrocephalus (Hydrocephaly)
11/2019 - 03/2012
2Inborn Genetic Diseases (Disease, Hereditary)
01/2017 - 11/2013
1Respiratory Tract Diseases (Respiratory Tract Disease)
10/2021
1Male Infertility (Male Sterility)
12/2018
1Cerebellar Diseases (Cerebellar Syndrome)
03/2018
1Retinitis Pigmentosa (Pigmentary Retinopathy)
08/2015
1Mainzer-Saldino Disease
11/2013
1Polydactyly (Polydactylism)
05/2013
1Paralysis (Palsy)
05/2012
1Hypertrophy
03/2008
1Neurodegenerative Diseases (Neurodegenerative Disease)
12/2007

Drug/Important Bio-Agent (IBA)

13Dyneins (Dynein)IBA
12/2018 - 08/2002
11Proteins (Proteins, Gene)FDA Link
01/2018 - 08/2004
3Axonemal DyneinsIBA
01/2018 - 03/2012
3Retinaldehyde (Retinal)IBA
08/2015 - 04/2002
2Biological ProductsIBA
01/2019 - 01/2017
1Pharmaceutical PreparationsIBA
10/2021
1Forkhead Transcription Factors (Forkhead Box Proteins)IBA
11/2019
1alpha- Amino- 3- hydroxy- 5- methyl- 4- isoxazolepropionic Acid (AMPA)IBA
03/2018
1Glutamate Receptors (Glutamate Receptor)IBA
03/2018
1Proteasome Endopeptidase Complex (Proteasome)IBA
08/2015
1G-Protein-Coupled Receptors (Receptors, G Protein Coupled)IBA
08/2015
1UbiquitinIBA
08/2015
1RNA Precursors (Precursor, mRNA)IBA
08/2015
1Fenofibrate (CiL)FDA LinkGeneric
01/2015
1lipopigmentsIBA
11/2013
1CeroidIBA
11/2013
1ElementsIBA
08/2013
1EnzymesIBA
11/2008
1Mannose (D-Mannose)IBA
11/2008
1Ion Channels (Ion Channel)IBA
03/2008
1Biomarkers (Surrogate Marker)IBA
12/2007
1Lysosomal Membrane ProteinsIBA
12/2007
1Neurotransmitter Agents (Neurotransmitter)IBA
12/2005
1Peptides (Polypeptides)IBA
08/2004
1OligonucleotidesIBA
01/2003
1CarbohydratesIBA
04/2002

Therapy/Procedure

2Therapeutics
10/2021 - 01/2021