Genome sequencing reveals a splice donor site mutation in the SNX14 gene associated with a novel cerebellar cortical degeneration in the Hungarian Vizsla dog breed
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Title
Genome sequencing reveals a splice donor site mutation in the SNX14 gene associated with a novel cerebellar cortical degeneration in the Hungarian Vizsla dog breed
Authors
Keywords
Cerebellar cortical degeneration, Cerebellar abiotrophy, Hungarian Vizsla dog, Genome sequencing
Journal
BMC GENETICS
Volume 17, Issue 1, Pages -
Publisher
Springer Nature
Online
2016-08-26
DOI
10.1186/s12863-016-0433-y
References
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Related references
Note: Only part of the references are listed.- SNX14 is a bifunctional negative regulator for neuronal 5-HT6 receptor signaling
- (2015) C. M. Ha et al. JOURNAL OF CELL SCIENCE
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- Mutations in SNX14 Cause a Distinctive Autosomal-Recessive Cerebellar Ataxia and Intellectual Disability Syndrome
- (2014) Anna C. Thomas et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Snx14 Regulates Neuronal Excitability, Promotes Synaptic Transmission, and Is Imprinted in the Brain of Mice
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- Canine Hereditary Ataxia in Old English Sheepdogs and Gordon Setters Is Associated with a Defect in the Autophagy Gene Encoding RAB24
- (2014) Caryline Agler et al. PLoS Genetics
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- (2012) Oliver P Forman et al. BMC GENETICS
- A program for annotating and predicting the effects of single nucleotide polymorphisms, SnpEff
- (2012) Pablo Cingolani et al. FLY
- A SEL1L Mutation Links a Canine Progressive Early-Onset Cerebellar Ataxia to the Endoplasmic Reticulum–Associated Protein Degradation (ERAD) Machinery
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- (2010) A. McKenna et al. GENOME RESEARCH
- Hereditary Cerebellar Degeneration in Scottish Terriers
- (2010) G. Urkasemsin et al. JOURNAL OF VETERINARY INTERNAL MEDICINE
- DEVELOPMENT OF A MORPHOMETRIC MAGNETIC RESONANCE IMAGE PARAMETER SUITABLE FOR DISTINGUISHING BETWEEN NORMAL DOGS AND DOGS WITH CEREBELLAR ATROPHY
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- (2009) H. Li et al. BIOINFORMATICS
- Computer-Assisted Magnetic Resonance Imaging Brain Morphometry in American Staffordshire Terriers with Cerebellar Cortical Degeneration
- (2009) D. Henke et al. JOURNAL OF VETERINARY INTERNAL MEDICINE
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