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DYNC1H1 gene

Known as: DYNEIN, CYTOPLASMIC-LIKE, DNCH1, dynein cytoplasmic 1 heavy chain 1 
National Institutes of Health

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2017
2017
Exome Sequencing Identifies De Novo DYNC1H1 Mutations Associated With Distal Spinal Muscular Atrophy and Malformations of Cortical Development
Exome sequencing has become a formidable tool for identifying potential de novo variants in causative genes of human diseases… 
2015
2015
A novel DYNC1H1 mutation causing spinal muscular atrophy with lower extremity predominance
Recent studies have identified mutations in the dynein heavy chain gene (DYNC1H1), which lead to 2 closely related human motor… 
2012
2012
Subpixel colocalization reveals amyloid precursor protein-dependent kinesin-1 and dynein association with axonal vesicles
Intracellular transport of vesicles and organelles along microtubules is powered by kinesin and cytoplasmic dynein molecular… 
2006
2006
No association of DYNC1H1 with sporadic ALS in a case‐control study of a northern European derived population: A tagging SNP approach
The cytoplasmic dynein‐dynactin complex has been implicated in the aetiology of motor neuron degeneration in both mouse models… 
2000
2000
Characterization of fission yeast meiotic mutants based on live observation of meiotic prophase nuclear movement
Abstract.We characterized four meiotic mutants of the fission yeast Schizosaccharomyces pombe by live observation of nuclear… 
Highly Cited
1999
Highly Cited
1999
Domains in the 1α Dynein Heavy Chain Required for Inner Arm Assembly and Flagellar Motility in Chlamydomonas
Flagellar motility is generated by the activity of multiple dynein motors, but the specific role of each dynein heavy chain (Dhc… 
1998
1998
Evidence for four cytoplasmic dynein heavy chain isoforms in rat testis.
Recent studies have revealed the expression of multiple putative cytoplasmic dynein heavy chain (DHC) genes in several organisms… 
Highly Cited
1996
Highly Cited
1996
A novel cytoplasmic dynein heavy chain: expression of DHC1b in mammalian ciliated epithelial cells.
Organisms that have cilia or flagella express over a dozen dynein heavy chain genes. Of these heavy chain genes, most appear to… 
1994
1994
Predictions of in Vivo Plasma Concentrations from in Vitro Release Kinetics: Application to Doxepin Parenteral (I.M.) Suspensions in Lipophilic Vehicles in Dogs
A flow through dissolution system was applied to obtain biorelevant dissolution rates from controlled release systems for… 
1994
1994
Localization of the human cytoplasmic dynein heavy chain (DNECL) to 14qter by fluorescence in situ hybridization.
Dyneins are a group of microtubule-activated ATPases that serve to convert chemical energy into mechanical energy. They have been… 
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