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Everything about CHRNE
Protein-coding gene
Acetylcholine receptor subunit epsilon is a protein that in humans is encoded by the CHRNE gene. Wikipedia →
🧭 Start here: a 6-step reading path
- Read the overview: CHRNEA 5-minute orientation
- Skim a recent paper: Characterization of Clinical Phenotypes in Congenital Myasthenic Syndrome Associated with the c.1327delG Frameshift Mutation in CHRNE Encoding the Acetylcholine Receptor Epsilon SubunitInfluential work since 2022
- Pick up a classic book: He "dipa" tava caraṇeThe most-reprinted book on the subject
- Read the landmark paper: Congenital myasthenic syndrome associated with epidermolysis bullosa caused by homozygous mutations in PLEC1 and CHRNECited 40 times
- Go sideways: CHRNDA closely related topic
- Go sideways: RAPSNA closely related topic
📖 Definitions
No dictionary entry for this exact phrase.
🗂️ The subject at a glance
🏆 Landmark papers (most cited)
Congenital myasthenic syndrome associated with epidermolysis bullosa caused by homozygous mutations in PLEC1 and CHRNE
The CHRNE 1293insG founder mutation is a frequent cause of congenital myasthenia in North Africa
A frameshifting mutation in CHRNE unmasks skipping of the preceding exon
Pharmacological Strategy for Congenital Myasthenic Syndrome with CHRNE Mutations: A Meta-Analysis of Case Reports
Phenotypic heterogeneity in two large Roma families with a congenital myasthenic syndrome due to CHRNE 1267delG mutation. A long-term follow-up
A synonymous CHRNE mutation responsible for an aberrant splicing leading to congenital myasthenic syndrome
Congenital myasthenia in Brahman calves caused by homozygosity for a CHRNE truncating mutation
A common CHRNE mutation in Brazilian patients with congenital myasthenic syndrome
🆕 Influential since 2022
Characterization of Clinical Phenotypes in Congenital Myasthenic Syndrome Associated with the c.1327delG Frameshift Mutation in CHRNE Encoding the Acetylcholine Receptor Epsilon Subunit
Calcitriol ameliorates motor deficits and prolongs survival of Chrne-deficient mouse, a model for congenital myasthenic syndrome, by inducing Rspo2
Homozygous Duplication in the CHRNE in a Family with Congenital Myasthenic Syndrome 4C: 18-Year Follow Up
Salbutamol monotherapy in acetylcholine receptor deficiency-related congenital myasthenic syndrome due to CHRNE mutation
Positive response to inhaled salbutamol in congenital myasthenic syndrome due to CHRNE mutation
📚 Books worth reading
- 📕He "dipa" tava caraṇeSudhā Dilīpa Śāha · 2008
Ranked by number of editions on Open Library, a rough measure of how lasting a book is.
🔗 Related topics
- CHRND Acetylcholine receptor subunit delta is a protein that in humans is encoded by the CHRND gene. The acetylcholine receptor of muscle has 5 subunits of 4…
- RAPSN 43 kDa receptor-associated protein of the synapse (rapsyn) is a protein that in humans is encoded by the RAPSN gene. This protein belongs to a family of…
- Acetylcholine receptor An acetylcholine receptor (abbreviated AChR) or a cholinergic receptor is an integral membrane protein that responds to the binding of acetylcholine, a…
- CHRNA1 Neuronal acetylcholine receptor subunit alpha-1, also known as nAChRα1, is a protein that in humans is encoded by the CHRNA1 gene. The protein encoded…
- Congenital myasthenic syndrome Congenital myasthenic syndrome (CMS) is an inherited neuromuscular disorder caused by defects of several types at the neuromuscular junction. The effects…
- CHRNB1 Acetylcholine receptor subunit beta is a protein that in humans is encoded by the CHRNB1 gene. The muscle acetylcholine receptor is composed of five subunits:…
- COLQ Acetylcholinesterase collagenic tail peptide also known as AChE Q subunit, acetylcholinesterase-associated collagen, or ColQ is the collagen-tail subunit…
- Neuromuscular junction A neuromuscular junction (or myoneural junction) is a chemical synapse between a motor neuron and a muscle fiber. It allows the motor neuron to transmit…