ArticleThe Journal of clinical investigation2008
Mutations in the nervous system--specific HSN2 exon of WNK1 cause hereditary sensory neuropathy type II.
Article in The Journal of clinical investigation, 2008. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 68 papers, 1 of them a synthesis that pooled it.
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Who cites it
68 citing papers in PubMed, 1 synthesis or guideline pooled it, 118 citations in OpenAlex.
- Genomewide association studies of stroke.The New England journal of medicine · 2009Pooled it
- A novel biallelic single base insertion in WNK1 in a Pakistani family with congenital insensitivity to pain.Journal of human genetics · 2020Trial
- No lysine? No problem: the surprising roles of WNK kinases in physiology and disease.The Biochemical journal · 2026Review
- Hereditary Sensory and Autonomic Neuropathy Type 2: A Case Report and a Review of the Literature.Brain sciences · 2025Article
- WNKs regulate mouse behavior and alter central nervous system glucose uptake and insulin signaling.bioRxiv : the preprint server for biology · 2025Article
- Kinase interaction analysis predicts actions of the WNK-OSR1/SPAK pathway.Communications biology · 2025Article
- A novel mutation in the WNK1/HSN2 gene causing hereditary sensory and autonomic neuropathy type 2 in Chinese patient.Journal of human genetics · 2025Article
- Article
- Genetic landscape of congenital insensitivity to pain and hereditary sensory and autonomic neuropathies.Brain : a journal of neurology · 2023Article
- RNA isoform expression landscape of the human dorsal root ganglion (DRG) generated from long read sequencing.bioRxiv : the preprint server for biology · 2023Article
- WNK1 promotes water homeostasis by acting as a central osmolality sensor for arginine vasopressin release.The Journal of clinical investigation · 2023Article
- WNK1/HSN2 mediates neurite outgrowth and differentiation via a OSR1/GSK3β-LHX8 pathway.Scientific reports · 2022Article
- Genetic pain loss disorders.Nature reviews. Disease primers · 2022Review
- CCT and CCT-Like Modular Protein Interaction Domains in WNK Signaling.Molecular pharmacology · 2022Review
- Molecular mechanisms for the modulation of blood pressure and potassium homeostasis by the distal convoluted tubule.EMBO molecular medicine · 2022Review
- How Staying Negative Is Good for the (Adult) Brain: Maintaining Chloride Homeostasis and the GABA-Shift in Neurological Disorders.Frontiers in molecular neuroscience · 2022Review
- WNK1 is an assembly factor for the human ER membrane protein complex.Molecular cell · 2021Article
- WNK regulates Wnt signalling and β-Catenin levels by interfering with the interaction between β-Catenin and GID.Communications biology · 2020Article
- Physiological Processes Modulated by the Chloride-Sensitive WNK-SPAK/OSR1 Kinase Signaling Pathway and the Cation-Coupled Chloride Cotransporters.Frontiers in physiology · 2020Review
- Hereditary Sensory and Autonomic Neuropathies: Adding More to the Classification.Current neurology and neuroscience reports · 2019Review
8 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
14 authors at 2 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Hereditary sensory and autonomic neuropathy type II (HSANII) is an early-onset autosomal recessive disorder characterized by loss of perception to pain, touch, and heat due to a loss of peripheral sensory nerves. Mutations in hereditary sensory neuropathy type II (HSN2), a single-exon ORF originally identified in affected families in Quebec and Newfoundland, Canada, were found to cause HSANII. We report here that HSN2 is a nervous system-specific exon of the with-no-lysine(K)-1 (WNK1) gene. WNK1 mutations have previously been reported to cause pseudohypoaldosteronism type II but have not been studied in the nervous system. Given the high degree of conservation of WNK1 between mice and humans, we characterized the structure and expression patterns of this isoform in mice. Immunodetections indicated that this Wnk1/Hsn2 isoform was expressed in sensory components of the peripheral nervous system and CNS associated with relaying sensory and nociceptive signals, including satellite cells, Schwann cells, and sensory neurons. We also demonstrate that the novel protein product of Wnk1/Hsn2 was more abundant in sensory neurons than motor neurons. The characteristics of WNK1/HSN2 point to a possible role for this gene in the peripheral sensory perception deficits characterizing HSANII.
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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.