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DOK7 gene

Known as: DOWNSTREAM OF TYROSINE KINASE 7, FLJ39137, Dok-7 
National Institutes of Health

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2020
2020
APC2CDH1 negatively regulates agrin signaling by promoting the ubiquitination and proteolytic degradation of DOK7
Neuromuscular junctions (NMJs) are peripheral synapses between motoneurons and skeletal muscle fibers that are critical for the… 
2019
2019
Phenotypic Differences in 2 Unrelated Cases Carrying Identical DOK7 Mutations.
INTRODUCTION Mutations in the Dok-7 gene (DOK7) underlie a congenital myasthenic syndrome (CMS) with a characteristic limb-girdle… 
Review
2018
Review
2018
[Homeostasis and Disorder of Musculoskeletal System.Molecular signaling and its pathogenic alterations in neuromuscular junction formation.]
The neuromuscular junction(NMJ)is the synapse between a motor neuron and the skeletal muscle that is essential for muscle… 
2015
2015
Clinical and neurophysiological response to pharmacological treatment of DOK7 congenital myasthenia in an older patient
2015
2015
212 Downstream of tyrosine kinase 7 (DOK7) variant expression and function in human colorectal cance
2015
2015
PP09.8 – 2377: Novel DOK7 mutation in a Greek patient with congenital myasthenic syndrome
2014
2014
Evidence for Tumour Suppressor Function of DOK7 in Human Breast Cancer
Introduction: Downstream of tyrosine kinase 7 (DOK-7) is a member of the DOK family, which has been associated with the… 
2013
2013
Congenital myasthenic syndrome and minicore‐like myopathy with DOK7 mutation
Children with a congenital myasthenic syndrome (CMS) who present with fatigability or weakness with symptoms confined to a limb… 
2013
2013
P.12.6 Congenital myasthenic syndromes: Diagnosis difficulties, course and prognosis, and therapy – The French CMS network experience
Review
2012
Review
2012
Synaptic dysfunction in congenital myasthenic syndromes
Congenital myasthenic syndromes (CMS) are hereditary disorders of neuromuscular transmission characterized by fatigable muscle… 
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