ArticleG3 (Bethesda, Md.)2016
An Inversion Disrupting FAM134B Is Associated with Sensory Neuropathy in the Border Collie Dog Breed.
Article in G3 (Bethesda, Md.), 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 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
16 citing papers in PubMed, 31 citations in OpenAlex.
- Suspected hereditary sensory and autonomic neuropathies: clinical signs and electrodiagnostic findings in eleven dogs.Journal of veterinary internal medicine · 2026Article
- An Overview of Canine Inherited Neurological Disorders with Known Causal Variants.Animals : an open access journal from MDPI · 2023Review
- Elevated FAM134B expression induces radiation-sensitive in hepatocellular carcinoma.BMC cancer · 2023Article
- The Australasian dingo archetype: de novo chromosome-length genome assembly, DNA methylome, and cranial morphology.GigaScience · 2023Article
- The Australasian dingo archetype:bioRxiv : the preprint server for biology · 2023Article
- A comprehensive review of genomic perspectives of canine diseases as a model to study human disorders.Canadian journal of veterinary research = Revue canadienne de recherche veterinaire · 2023Review
- SCN9A variant in a family of mixed breed dogs with congenital insensitivity to pain.Journal of veterinary internal medicine · 2023Article
- Inheritance of Monogenic Hereditary Skin Disease and Related Canine Breeds.Veterinary sciences · 2022Review
- Inherited Sensory and Autonomic Neuropathy in a Border Collie, Interest of Oclacitinib for the Control of Self-Mutilation.Veterinary sciences · 2022Article
- Hereditary sensory and autonomic neuropathy in a family of mixed breed dogs associated with a novel RETREG1 variant.Journal of veterinary internal medicine · 2021Article
- Biomarker discovery in attention deficit hyperactivity disorder: RNA sequencing of whole blood in discordant twin and case-controlled cohorts.BMC medical genomics · 2020Article
- Canine neuropathies: powerful spontaneous models for human hereditary sensory neuropathies.Human genetics · 2019Review
- Charcot-Marie-Tooth type 4B2 demyelinating neuropathy in miniature Schnauzer dogs caused by a novel splicingPeerJ · 2019Article
- The Dog Model in the Spotlight: Legacy of a Trustful Cooperation.Journal of neuromuscular diseases · 2019Article
- Two mixed breed dogs with sensory neuropathy are homozygous for an inversion disrupting FAM134B previously identified in Border Collies.Journal of veterinary internal medicine · 2018Article
- A Missense Mutation in the Vacuolar Protein Sorting 11 (G3 (Bethesda, Md.) · 2018Article
Corrections and comments
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Authors and funding
10 authors at 5 institutions in 2 countries.
Funding
Abstract
Sensory neuropathy in the Border Collie is a severe neurological disorder caused by the degeneration of sensory and, to a lesser extent, motor nerve cells with clinical signs starting between 2 and 7 months of age. Using a genome-wide association study approach with three cases and 170 breed matched controls, a suggestive locus for sensory neuropathy was identified that was followed up using a genome sequencing approach. An inversion disrupting the candidate gene FAM134B was identified. Genotyping of additional cases and controls and RNAseq analysis provided strong evidence that the inversion is causal. Evidence of cryptic splicing resulting in novel exon transcription for FAM134B was identified by RNAseq experiments. This investigation demonstrates the identification of a novel sensory neuropathy associated mutation, by mapping using a minimal set of cases and subsequent genome sequencing. Through mutation screening, it should be possible to reduce the frequency of or completely eliminate this debilitating condition from the Border Collie breed population.
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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.