Mutations causing DOK7 congenital myasthenia ablate functional motifs in Dok-7.

Mutations causing DOK7 congenital myasthenia ablate functional motifs in Dok-7.

Dok-7 is a cytoplasmic activator of muscle-specific receptor-tyrosine kinase (MuSK). Both Dok-7 and MuSK are required for neuromuscular synaptogenesis. Mutations in DOK7 underlie a congenital myasthenic syndrome (CMS) associated with small and simplified neuromuscular synapses likely due to impaired...

書誌詳細
主要な著者:	Hamuro, J, Higuchi, O, Okada, K, Ueno, M, Iemura, S, Natsume, T, Spearman, H, Beeson, D, Yamanashi, Y
フォーマット:	Journal article
言語:	English
出版事項:	2008

類似資料

Dose escalation pre-clinical trial of novel DOK7-AAV in mouse model of DOK7 congenital myasthenia
著者:: Cossins, J, 等
出版事項: (2025)

Congenital myasthenia: contrasting rapsyn and Dok-7 phenotypes
著者:: Palace, J
出版事項: (2010)

Dok-7/MuSK signaling and a congenital myasthenic syndrome.
著者:: Yamanashi, Y, 等
出版事項: (2008)

EPHEDRINE TREATMENT RESULTS IN PROFOUND FUNCTIONAL IMPROVEMENTS IN DOK-7 CONGENITAL MYASTHENIA
著者:: Lashley, D, 等
出版事項: (2009)

Dok-7 mutations underlie a neuromuscular junction synaptopathy.
著者:: Beeson, D, 等
出版事項: (2006)

DOK7 Mutations in Congenital Myasthenic Syndromes
著者:: J Gordon Millichap
出版事項: (2007-06-01)

Ephedrine treatment in congenital myasthenic syndrome due to mutations in DOK7.
著者:: Lashley, D, 等
出版事項: (2010)

Phenotypical spectrum of DOK7 mutations in congenital myasthenic syndromes.
著者:: Müller, J, 等
出版事項: (2007)

DOK7 congenital myasthenic syndrome.
著者:: Palace, J
出版事項: (2012)

Clinical features of the DOK7 neuromuscular junction synaptopathy.
著者:: Palace, J, 等
出版事項: (2007)

Ephedrine treatment in DOK7 CMS and investigation of potential mechanisms
著者:: Cossins, J, 等
出版事項: (2010)

Salbutamol benefits children with congenital myasthenic syndrome due to DOK7 mutations.
著者:: Burke, G, 等
出版事項: (2013)

Mutations in dok-7 underlie a congenital myasthenic syndrome with a (sic)Limb girdle broken vertical bar pattern of muscle weakness.
著者:: Beeson, D, 等
出版事項: (2006)

The spectrum of mutations that underlie the neuromuscular junction synaptopathy in DOK7 congenital myasthenic syndrome.
著者:: Cossins, J, 等
出版事項: (2012)

Germline mutation in DOK7 associated with fetal akinesia deformation sequence.
著者:: Vogt, J, 等
出版事項: (2009)

Silencing of Dok-7 in adult rat muscle increases susceptibility to passive transfer myasthenia gravis
著者:: Gomez, A, 等
出版事項: (2016)

Congenital stridor with feeding difficulty as a presenting symptom of Dok7 congenital myasthenic syndrome.
著者:: Jephson, C, 等
出版事項: (2010)

Congenital Myasthenic Syndrome due to DOK7 mutations in a family from Chile
著者:: Jorge A. Bevilacqua, 等
出版事項: (2017-09-01)

The effect of dok-7 on acetylcholine receptor clustering in C2C12 cells
著者:: Spearman, H, 等
出版事項: (2008)

Long-term muscle-specific overexpression of DOK7 in mice using AAV9-tMCK-DOK7
著者:: Yu-Ting Huang, 等
出版事項: (2023-09-01)

The spectrum of mutations that underlie the DOK7 neuromuscular junction synaptopathy, and the patient response to treatment
著者:: Beeson, D, 等
出版事項: (2012)

DOK7 congenital myasthenic syndrome: case series and review of literature
著者:: Bentolhoda Ziaadini, 等
出版事項: (2024-06-01)

Neuromuscular disease. DOK7 gene therapy benefits mouse models of diseases characterized by defects in the neuromuscular junction.
著者:: Arimura, S, 等
出版事項: (2014)

DOK7 congenital myasthenic syndrome in childhood: early diagnostic clues in 23 children.
著者:: Klein, A, 等
出版事項: (2013)

DOK7 congenital myasthenic syndrome in childhood: Early diagnostic clues in 23 children
著者:: Klein, A, 等
出版事項: (2013)

DOK7 gene therapy enhances motor activity and life span in ALS model mice
著者:: Sadanori Miyoshi, 等
出版事項: (2017-05-01)

Effects of beta-2 adrenergic receptor agonists in DOK7 congenital myasthenic syndrome
著者:: Clausen, L
出版事項: (2015)

DokNet’s World
著者:: William Billones
出版事項: (2024-11-01)

Dok valovi nadiru
著者:: Claudie Gallay, 等
出版事項: (2015-06-01)

DokNet’s World
著者:: William Billones
出版事項: (2024-05-01)

DokNet’s World
著者:: William Billones
出版事項: (2023-11-01)

DokNet’s World
著者:: William Billones
出版事項: (2023-06-01)

A novel DOK7 mutation causing congenital myasthenic syndrome with limb-girdle weakness: case series of three family members
著者:: Mohammed S. Alsallum, 等
出版事項: (2021-05-01)

DOK7 Gene Therapy Enhances Neuromuscular Junction Innervation and Motor Function in Aged Mice
著者:: Ryo Ueta, 等
出版事項: (2020-08-01)

DOK1 and DOK2 regulate CD8 T cell signaling and memory formation without affecting tumor cell killing
著者:: Vladimir Laletin, 等
出版事項: (2024-07-01)

DOK2 inhibits EGFR-mutated lung adenocarcinoma.
著者:: Alice H Berger, 等
出版事項: (2013-01-01)

Dok-2 and Dok-1 adaptor proteins, two novel negative regulators of TCR signaling
著者:: Dong, S, 等
出版事項: (2007)

Słownik terminologiczny nauk moralnych: (dok.)
著者:: Stanisław Witek
出版事項: (1976-03-01)

Studi Implementasi RCM untuk Peningkatan Produktivitas Dok Apung (Studi Kasus: PT.Dok dan Perkapalan Surabaya)
著者:: Nurlaily Mufarikhah
出版事項: (2017-01-01)

Dök- as an auxiliary verb in the Turkey Turkish dialects
著者:: MEHMETCAN GÖKBAYIR
出版事項: (2022-12-01)