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Page 1
Complexities of the glomerular basement membrane.
Naylor RW, Morais MRPT, Lennon R. Naylor RW, et al. Nat Rev Nephrol. 2021 Feb;17(2):112-127. doi: 10.1038/s41581-020-0329-y. Epub 2020 Aug 24. Nat Rev Nephrol. 2021. PMID: 32839582 Review.
Defects in GBM components are associated with a range of hereditary human diseases such as Alport syndrome, which is caused by defects in the genes COL4A3, COL4A4 and COL4A5, and Pierson syndrome, which is caused by variants in LAMB2. ...
Defects in GBM components are associated with a range of hereditary human diseases such as Alport syndrome, which is caused by defect …
Congenital myasthenic syndromes.
Nogajski JH, Kiernan MC, Ouvrier RA, Andrews PI. Nogajski JH, et al. J Clin Neurosci. 2009 Jan;16(1):1-11. doi: 10.1016/j.jocn.2008.05.001. Epub 2008 Nov 18. J Clin Neurosci. 2009. PMID: 19017561 Review.
Congenital myasthenic syndromes (CMS) are a heterogeneous group of uncommon, inherited disorders affecting the neuromuscular junction. ...Recent advances in our understanding of the cellular mechanisms underlying specific syndromes allow DNA testing fo …
Congenital myasthenic syndromes (CMS) are a heterogeneous group of uncommon, inherited disorders affecting the neuromus …
Splicing regulation and dysregulation of cholinergic genes expressed at the neuromuscular junction.
Ohno K, Rahman MA, Nazim M, Nasrin F, Lin Y, Takeda JI, Masuda A. Ohno K, et al. J Neurochem. 2017 Aug;142 Suppl 2:64-72. doi: 10.1111/jnc.13954. Epub 2017 Mar 21. J Neurochem. 2017. PMID: 28072465 Free article. Review.
In addition, germline mutations provoke aberrant splicing by compromising binding of RNA-binding proteins, and cause congenital myasthenic syndromes (CMS). We present physiological splicing mechanisms of genes for agrin (AGRN), acetylcholinesterase (ACHE), Mu …
In addition, germline mutations provoke aberrant splicing by compromising binding of RNA-binding proteins, and cause congenital my …
Disorders of FZ-CRD; insights towards FZ-CRD folding and therapeutic landscape.
Milhem RM, Ali BR. Milhem RM, et al. Mol Med. 2019 Dec 31;26(1):4. doi: 10.1186/s10020-019-0129-7. Mol Med. 2019. PMID: 31892318 Free PMC article. Review.
Mutations in FZ-CRD of Frizzled class receptor 4 (FZD4) and Muscle, skeletal, receptor tyrosine kinase (MuSK) and Receptor tyrosine kinase-like orphan receptor 2 (ROR2) cause Familial Exudative Vitreoretinopathy (FEVR), Congenital Myasthenic Syndrome (CMS), a …
Mutations in FZ-CRD of Frizzled class receptor 4 (FZD4) and Muscle, skeletal, receptor tyrosine kinase (MuSK) and Receptor tyrosine kinase-l …
Pharmacologic treatment of downstream of tyrosine kinase 7 congenital myasthenic syndrome.
Witting N, Vissing J. Witting N, et al. JAMA Neurol. 2014 Mar;71(3):350-4. doi: 10.1001/jamaneurol.2013.5590. JAMA Neurol. 2014. PMID: 24425145 Review.
IMPORTANCE: Congenital myasthenic syndromes (CMSs) are increasingly recognized as causes of muscle fatigue and weakness. ...EVIDENCE REVIEW: In a search of the PubMed database, we found 16 publications describing the response to medication in 122 indiv …
IMPORTANCE: Congenital myasthenic syndromes (CMSs) are increasingly recognized as causes of muscle fatigue and weakness …
Nicotinic acetylcholine receptors in human genetic disease.
Schaaf CP. Schaaf CP. Genet Med. 2014 Sep;16(9):649-56. doi: 10.1038/gim.2014.9. Epub 2014 Feb 20. Genet Med. 2014. PMID: 24556925 Free article. Review.
Nicotinic acetylcholine receptors represent a family of ligand-gated ion channels that are widely expressed in the central and peripheral nervous systems. To date, 16 genes encoding subunits of mammalian nicotinic acetylcholine receptors have been identified. ...Mutations …
Nicotinic acetylcholine receptors represent a family of ligand-gated ion channels that are widely expressed in the central and peripheral ne …
Myasthenia gravis and myasthenic syndromes.
Engel AG. Engel AG. Ann Neurol. 1984 Nov;16(5):519-34. doi: 10.1002/ana.410160502. Ann Neurol. 1984. PMID: 6095730 Review.
Recognition of the autoimmune origin of acquired MG also implied that myasthenic disorders occurring in a genetic or congenital setting had a different cause. As a result, a number of congenital myasthenic syndromes have come to be recognized an …
Recognition of the autoimmune origin of acquired MG also implied that myasthenic disorders occurring in a genetic or congenital …
Nerve conduction studies and needle EMG in very small children.
Pitt MC. Pitt MC. Eur J Paediatr Neurol. 2012 May;16(3):285-91. doi: 10.1016/j.ejpn.2011.07.014. Epub 2011 Aug 12. Eur J Paediatr Neurol. 2012. PMID: 21840229 Review.
Examples include hypomyelinating neuropathy, SMARD, myotonic dystrophy, congenital myasthenic syndrome, and neonatal brachial plexopathy. While few practitioners perform EMG in children so young the rewards may be considerable with information obtained that i …
Examples include hypomyelinating neuropathy, SMARD, myotonic dystrophy, congenital myasthenic syndrome, and neonatal br …
Splicing abnormalities in congenital myasthenic syndromes.
Ohno K, Engel AG. Ohno K, et al. Acta Myol. 2005 Oct;24(2):50-4. Acta Myol. 2005. PMID: 16550914 Review.
A total of 173 mutations has been reported to date in eight genes in congenital myasthenic syndromes. Sixteen intronic and five exonic mutations in three genes affect pre-mRNA splicing. ...We found in general that the nonsense-mediated altered splicing of a r …
A total of 173 mutations has been reported to date in eight genes in congenital myasthenic syndromes. Sixteen intronic …