Cargando…

Polyadenine insertion disrupting the G6PC1 gene in German Pinschers with glycogen storage disease type Ia (GSD1A)

Detalles Bibliográficos
Autores principales:	Christen, Matthias, Reineking, Wencke, Beineke, Andreas, Jagannathan, Vidhya, Baumgärtner, Wolfgang, Leeb, Tosso
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	John Wiley and Sons Inc. 2021
Materias:	Brief Notes
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9293233/ https://www.ncbi.nlm.nih.gov/pubmed/34610166 http://dx.doi.org/10.1111/age.13146

Ejemplares similares

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

Are the Bacteria and Their Metabolites Contributing for Gut Inflammation on GSD-Ia Patients?
por: Colonetti, Karina, et al.
Publicado: (2022)

RALGAPA1 Deletion in Belgian Shepherd Dogs with Cerebellar Ataxia
por: Christen, Matthias, et al.
Publicado: (2023)

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

A Locus on Chromosome 5 Is Associated with Dilated Cardiomyopathy in Doberman Pinschers
por: Mausberg, Theresa-Bernadette, et al.
Publicado: (2011)

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)

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

EHBP1L1 Frameshift Deletion in English Springer Spaniel Dogs with Dyserythropoietic Anemia and Myopathy Syndrome (DAMS) or Neonatal Losses
por: Østergård Jensen, Sarah, et al.
Publicado: (2022)

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

ACADM Frameshift Variant in Cavalier King Charles Spaniels with Medium-Chain Acyl-CoA Dehydrogenase Deficiency
por: Christen, Matthias, 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)

Laryngeal chondritis as a differential for upper airway diseases in German sheep
por: Reineking, Wencke, et al.
Publicado: (2020)

Treatment of the Neutropenia Associated with GSD1b and G6PC3 Deficiency with SGLT2 Inhibitors
por: Veiga-da-Cunha, Maria, et al.
Publicado: (2023)

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

Genotype-phenotype correlation and description of two novel mutations in Iranian patients with glycogen storage disease 1b (GSD1b)
por: Eghbali, Maryam, et al.
Publicado: (2020)

LAMA2 Nonsense Variant in an Italian Greyhound with Congenital Muscular Dystrophy
por: Christen, Matthias, et al.
Publicado: (2021)

SCN9A variant in a family of mixed breed dogs with congenital insensitivity to pain
por: Gutierrez‐Quintana, Rodrigo, et al.
Publicado: (2023)

Response to letter regarding “SCN9A variant in a family of mixed breed dogs with congenital insensitivity to pain”
por: Gutierrez‐Quintana, Rodrigo, et al.
Publicado: (2023)

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

PCYT1A Missense Variant in Vizslas with Disproportionate Dwarfism
por: Ludwig-Peisker, Odette, et al.
Publicado: (2022)

Deletion of the SELENOP gene leads to CNS atrophy with cerebellar ataxia in dogs
por: Christen, Matthias, et al.
Publicado: (2021)

PKD1 Nonsense Variant in a Lagotto Romagnolo Family with Polycystic Kidney Disease
por: Drögemüller, Michaela, et al.
Publicado: (2023)

Normalization of obstructive cardiomyopathy and improvement of hepatopathy on ketogenic diet in patient with glycogen storage disease (GSD) type IIIa
por: Marusic, Tatiana, et al.
Publicado: (2020)

MIA3 Splice Defect in Cane Corso Dogs with Dental-Skeletal-Retinal Anomaly (DSRA)
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)

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

Glycogen storage diseases with liver involvement: a literature review of GSD type 0, IV, VI, IX and XI
por: Massese, Miriam, et al.
Publicado: (2022)

A DSG1 Frameshift Variant in a Rottweiler Dog with Footpad Hyperkeratosis
por: Backel, Katherine A., et al.
Publicado: (2020)

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

A novel missense variant in the L2HGDH gene in a cat with L‐2‐hydroxyglutaric aciduria and multicystic cerebral lesions
por: Christen, Matthias, et al.
Publicado: (2023)

Regulation of Zebrafish Skeletogenesis by ext2/dackel and papst1/pinscher
por: Clément, Aurélie, et al.
Publicado: (2008)

Three novel mutations of the G6PC gene identified in Chinese patients with glycogen storage disease type Ia
por: Zheng, Bi-Xia, et al.
Publicado: (2014)

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

Acrochordonous plaque in a Doberman Pinscher dog
por: Ferreira, Ariele A., et al.
Publicado: (2019)

A Novel Gene Therapy Approach for GSD III Using an AAV Vector Encoding a Bacterial Glycogen Debranching Enzyme
por: Lim, Jeong-A, et al.
Publicado: (2020)

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

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

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

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

Cannot write session to /tmp/vufind_sessions/sess_t96e1pav9gpkhqhtpbonucv1rm