Cargando…

Mitochondrial PCK2 Missense Variant in Shetland Sheepdogs with Paroxysmal Exercise-Induced Dyskinesia (PED)

Four female Shetland Sheepdogs with hypertonic paroxysmal dyskinesia, mainly triggered by exercise and stress, were investigated in a retrospective multi-center investigation aiming to characterize the clinical phenotype and its underlying molecular etiology. Three dogs were closely related and thei...

Descripción completa

Detalles Bibliográficos
Autores principales:	Nessler, Jasmin, Hug, Petra, Mandigers, Paul J. J., Leegwater, Peter A. J., Jagannathan, Vidhya, Das, Anibh M., Rosati, Marco, Matiasek, Kaspar, Sewell, Adrian C., Kornberg, Marion, Hoffmann, Marina, Wolf, Petra, Fischer, Andrea, Tipold, Andrea, Leeb, Tosso
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	MDPI 2020
Materias:	Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7397061/ https://www.ncbi.nlm.nih.gov/pubmed/32660061 http://dx.doi.org/10.3390/genes11070774

Ejemplares similares

Comparison of Forelimb and Hindlimb Systolic Blood Pressures and Proteinuria in Healthy Shetland Sheepdogs
por: Scansen, B.A., et al.
Publicado: (2014)

A TAC3 Missense Variant in a Domestic Shorthair Cat with Testicular Hypoplasia and Persistent Primary Dentition
por: Hug, Petra, et al.
Publicado: (2019)

Proximal Ulnar Osteotomy as a Treatment for Humeral Intracondylar Fissure in a Shetland Sheepdog
por: Karydas, Stavros, et al.
Publicado: (2023)

AKNA Frameshift Variant in Three Dogs with Recurrent Inflammatory Pulmonary Disease
por: Hug, Petra, et al.
Publicado: (2019)

A Nonsense Variant in the ACADVL Gene in German Hunting Terriers with Exercise Induced Metabolic Myopathy
por: Lepori, Vincent, et al.
Publicado: (2018)

A major facilitator superfamily domain 8 frameshift variant in a cat with suspected neuronal ceroid lipofuscinosis
por: Guevar, Julien, et al.
Publicado: (2019)

A Non-Synonymous HMGA2 Variant Decreases Height in Shetland Ponies and Other Small Horses
por: Frischknecht, Mirjam, et al.
Publicado: (2015)

Frameshift Variant in MFSD12 Explains the Mushroom Coat Color Dilution in Shetland Ponies
por: Tanaka, Jocelyn, et al.
Publicado: (2019)

YARS2 Missense Variant in Belgian Shepherd Dogs with Cardiomyopathy and Juvenile Mortality
por: Gurtner, Corinne, et al.
Publicado: (2020)

TSEN54 missense variant in Standard Schnauzers with leukodystrophy
por: Störk, Theresa, et al.
Publicado: (2019)

A SIX6 Nonsense Variant in Golden Retrievers with Congenital Eye Malformations
por: Hug, Petra, et al.
Publicado: (2019)

A Missense Variant in the Bardet-Biedl Syndrome 2 Gene (BBS2) Leads to a Novel Syndromic Retinal Degeneration in the Shetland Sheepdog
por: Hitti-Malin, Rebekkah J., et al.
Publicado: (2021)

Clinical Findings and Prevalence of the Mutation Associated with Primary Ciliary Dyskinesia in Old English Sheepdogs
por: Merveille, A.‐C., et al.
Publicado: (2014)

Investigation of the presence of specific neural antibodies in dogs with epilepsy or dyskinesia using murine and human assays
por: Hemmeter, Lea, et al.
Publicado: (2023)

Psychiatry in Shetland
por: Scholtz, Martin, et al.
Publicado: (2018)

Medicines of the Shetlanders
Publicado: (1860)

OCA2 splice site variant in German Spitz dogs with oculocutaneous albinism
por: Caduff, Madleina, et al.
Publicado: (2017)

A Deletion in the VLDLR Gene in Eurasier Dogs with Cerebellar Hypoplasia Resembling a Dandy-Walker-Like Malformation (DWLM)
por: Gerber, Martina, et al.
Publicado: (2015)

NME5 frameshift variant in Alaskan Malamutes with primary ciliary dyskinesia
por: Anderegg, Linda, et al.
Publicado: (2019)

Whole Genome Sequencing Indicates Heterogeneity of Hyperostotic Disorders in Dogs
por: Letko, Anna, et al.
Publicado: (2020)

L2HGDH Missense Variant in a Cat with L-2-Hydroxyglutaric Aciduria
por: Christen, Matthias, et al.
Publicado: (2021)

LPS-induced modules of co-expressed genes in equine peripheral blood mononuclear cells
por: Pacholewska, Alicja, et al.
Publicado: (2017)

Differences in miRNA differential expression in whole blood between horses with sarcoid regression and progression
por: Unger, Lucia, et al.
Publicado: (2018)

NSDHL Frameshift Deletion in a Mixed Breed Dog with Progressive Epidermal Nevi
por: Christen, Matthias, et al.
Publicado: (2020)

A knockout mutation associated with juvenile paroxysmal dyskinesia in Markiesje dogs indicates SOD1 pleiotropy
por: Mandigers, P. J. J., et al.
Publicado: (2021)

Horse Civilisation in Shetland and Wales
Publicado: (1892)

A COL7A1 Variant in a Litter of Neonatal Basset Hounds with Dystrophic Epidermolysis Bullosa
por: Garcia, Teresa Maria, et al.
Publicado: (2020)

FYCO1 Frameshift Deletion in Wirehaired Pointing Griffon Dogs with Juvenile Cataract
por: Rudd Garces, Gabriela, et al.
Publicado: (2022)

Long-Read Transcriptome of Equine Bronchoalveolar Cells
por: Sage, Sophie Elena, et al.
Publicado: (2022)

A de novo variant in the keratin 1 gene (KRT1) in a Chinese shar-pei dog with severe congenital cornification disorder and non-epidermolytic ichthyosis
por: Affolter, Verena K., et al.
Publicado: (2022)

History and structure of the closed pedigreed population of Icelandic Sheepdogs
por: Oliehoek, Pieter A, et al.
Publicado: (2009)

Sex differences in the herding styles of working sheepdogs and their handlers
por: Kydd, Erin, et al.
Publicado: (2017)

Vision-Based Module for Herding with a Sheepdog Robot
por: Riego del Castillo, Virginia, et al.
Publicado: (2022)

SUV39H2 epigenetic silencing controls fate conversion of epidermal stem and progenitor cells
por: Balmer, Pierre, et al.
Publicado: (2021)

The LCORL Locus Is under Selection in Large-Sized Pakistani Goat Breeds
por: Saif, Rashid, et al.
Publicado: (2020)

MYO5A Frameshift Variant in a Miniature Dachshund with Coat Color Dilution and Neurological Defects Resembling Human Griscelli Syndrome Type 1
por: Christen, Matthias, et al.
Publicado: (2021)

A Missense Variant in SLC39A4 in a Litter of Turkish Van Cats with Acrodermatitis Enteropathica
por: Kiener, Sarah, et al.
Publicado: (2021)

Polyadenine insertion disrupting the G6PC1 gene in German Pinschers with glycogen storage disease type Ia (GSD1A)
por: Christen, Matthias, et al.
Publicado: (2021)

KRT5 missense variant in a Cardigan Welsh Corgi with epidermolysis bullosa simplex
por: Kiener, Sarah, et al.
Publicado: (2022)

Dystrophin (DMD) Missense Variant in Cats with Becker-Type Muscular Dystrophy
por: Hilton, Stephanie, et al.
Publicado: (2023)

Cannot write session to /tmp/vufind_sessions/sess_beb6ce1ulkkajher6a4n2p33ir