ArticleDisease models & mechanisms2017
The familial dysautonomia disease gene
Article in Disease models & mechanisms, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 29 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
29 citing papers in PubMed, 33 citations in OpenAlex.
- Impaired Activity-Regulated Proteostasis: A Shared Mechanism in Neurodevelopmental Disorders.Biological psychiatry · 2026Review
- Bone Mineral Density and Trabecular Bone Score in Children, Adolescents and Young Adults with Familial Dysautonomia.Calcified tissue international · 2025Article
- Genetic modeling of ELP1-associated Sonic hedgehog medulloblastoma identifies MDM2 as a selective therapeutic target.Cancer cell · 2025Article
- Article
- Metabolic Deficits in the Retina of a Familial Dysautonomia Mouse Model.Metabolites · 2024Article
- A Comprehensive NMR Analysis of Serum and Fecal Metabolites in Familial Dysautonomia Patients Reveals Significant Metabolic Perturbations.Metabolites · 2023Article
- Gut microbiome dysbiosis drives metabolic dysfunction in Familial dysautonomia.Nature communications · 2023Article
- Dysregulated proteostasis network in neuronal diseases.Frontiers in cell and developmental biology · 2023Review
- Elongator regulates the melanocortin satiety pathway.Biochemical and biophysical research communications · 2022Article
- Functional divergence of the two Elongator subcomplexes during neurodevelopment.EMBO molecular medicine · 2022Article
- Characterization of Associated Nonclassical Phenotypes in Patients with Deletion in the WAGR Region Identified by Chromosomal Microarray: New Insights and Literature Review.Molecular syndromology · 2022Article
- Association betweenTranslational pediatrics · 2022Article
- Elp1 is required for development of visceral sensory peripheral and central circuitry.Disease models & mechanisms · 2022Article
- Bone biomechanical properties and tissue-scale bone quality in a genetic mouse model of familial dysautonomia.Osteoporosis international : a journal established as result of cooperation between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the USA · 2021Article
- Loss of Elp1 perturbs histone H2A.Z and the Notch signaling pathway.Biology open · 2021Article
- Elp2 mutations perturb the epitranscriptome and lead to a complex neurodevelopmental phenotype.Nature communications · 2021Article
- Fungal Kti12 proteins display unusual linker regions and unique ATPase p-loops.Current genetics · 2020Article
- Proteostasis is essential during cochlear development for neuron survival and hair cell polarity.EMBO reports · 2019Article
- Chemoreflex failure and sleep-disordered breathing in familial dysautonomia: Implications for sudden death during sleep.Autonomic neuroscience : basic & clinical · 2019Review
- From gene to treatment: supporting rare disease translational research through model systems.Disease models & mechanisms · 2019Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
16 authors at 4 institutions in 1 country.
Funding
Abstract
Hereditary sensory and autonomic neuropathies (HSANs) are a genetically and clinically diverse group of disorders defined by peripheral nervous system (PNS) dysfunction. HSAN type III, known as familial dysautonomia (FD), results from a single base mutation in the gene
Indexed as
Identifiers
What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.