Live briefing
Everything about CHRND
Protein-coding gene in humans
Acetylcholine receptor subunit delta is a protein that in humans is encoded by the CHRND gene. Wikipedia →
🧭 Start here: a 6-step reading path
- Read the overview: CHRNDA 5-minute orientation
- Skim a recent paper: Severe congenital myasthenic syndrome with novel variants in the CHRND geneInfluential work since 2022
- Read the landmark paper: Mutation Analysis of CHRNA1, CHRNB1, CHRND, and RAPSN Genes in Multiple Pterygium Syndrome/Fetal Akinesia PatientsCited 106 times
- Go sideways: CHRNA1A closely related topic
- Go sideways: CHRNEA closely related topic
📖 Definitions
No dictionary entry for this exact phrase.
🗂️ The subject at a glance
🏆 Landmark papers (most cited)
Mutation Analysis of CHRNA1, CHRNB1, CHRND, and RAPSN Genes in Multiple Pterygium Syndrome/Fetal Akinesia Patients
CHRND mutation causes a congenital myasthenic syndrome by impairing co-clustering of the acetylcholine receptor with rapsyn
Association of the gene encoding the δ-subunit of the muscle acetylcholine receptor (CHRND) with acquired autoimmune myasthenia gravis
Severe congenital myasthenic syndrome associated with novel biallelic mutation of the CHRND gene
Clinical phenotype and the lack of mutations in the CHRNG, CHRND, and CHRNA1 genes in two Indian families with Escobar syndrome
Efficacy of salbutamol monotherapy in slow‐channel congenital myasthenic syndrome caused by a novel mutation in CHRND
Prenatal detection of uniparental disomy of chromosome 2 carrying a CHRND pathogenic variant that causes lethal multiple pterygium syndrome
Case Report: Early diagnosis of lethal multiple pterygium syndrome with micrognathia: Two novel mutations in the CHRND gene
🆕 Influential since 2022
Severe congenital myasthenic syndrome with novel variants in the CHRND gene
CHRND variant in a paternally inherited esophageal atresia and tracheoesophgageal fistula: Report of a case
Suspected Adult-Onset Congenital Myasthenic Syndrome Associated With a Heterozygous CHRND Variant in a Patient With Seropositive Rheumatoid Arthritis: A Case Report
Characterisation of a novel mouse model for congenital myasthenic syndrome due to a mutation in CHRND
Clinical Variability and Genotype‐Driven Outcomes in CHRND ‐Related Congenital Myasthenic Syndrome
📚 Books worth reading
Open Library didn't respond; try again in a moment.
🔗 Related topics
- 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…
- CHRNE Acetylcholine receptor subunit epsilon is a protein that in humans is encoded by the CHRNE gene. Acetylcholine receptors at mature mammalian neuromuscular…
- 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:…
- CHRNG Acetylcholine receptor subunit gamma is a protein that in humans is encoded by the CHRNG gene. It is one of the subunits that compose the nicotinic acetylcholin…
- 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…
- CHRNB2 Neuronal acetylcholine receptor subunit beta-2 is a protein that in humans is encoded by the CHRNB2 gene. Neuronal acetylcholine receptors are homo- or…
- CHRNA2 Neuronal acetylcholine receptor subunit alpha-2, also known as nAChRα2, is a protein that in humans is encoded by the CHRNA2 gene. The protein encoded…