Cargando…

PKD1 Nonsense Variant in a Lagotto Romagnolo Family with Polycystic Kidney Disease

A female Lagotto Romagnolo dog with polycystic kidney disease (PKD) and her progeny, including PKD-affected offspring, were studied. All affected dogs appeared clinically inconspicuous, while sonography revealed the presence of renal cysts. The PKD-affected index female was used for breeding and pro...

Descripción completa

Detalles Bibliográficos
Autores principales:	Drögemüller, Michaela, Klein, Nadine, Steffensen, Rikke Lill, Keiner, Miriam, Jagannathan, Vidhya, Leeb, Tosso
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	MDPI 2023
Materias:	Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10297835/ https://www.ncbi.nlm.nih.gov/pubmed/37372390 http://dx.doi.org/10.3390/genes14061210

Ejemplares similares

SGCD Missense Variant in a Lagotto Romagnolo Dog with Autosomal Recessively Inherited Limb-Girdle Muscular Dystrophy
por: Brunetti, Barbara, et al.
Publicado: (2023)

Altered Basal Autophagy Affects Extracellular Vesicle Release in Cells of Lagotto Romagnolo Dogs With a Variant ATG4D
por: Syrjä, Pernilla, et al.
Publicado: (2020)

A Nonsense Variant in COL6A1 in Landseer Dogs with Muscular Dystrophy
por: Steffen, Frank, et al.
Publicado: (2015)

Behavioral Abnormalities in Lagotto Romagnolo Dogs with a History of Benign Familial Juvenile Epilepsy: A Long‐Term Follow‐Up Study
por: Jokinen, T.S., et al.
Publicado: (2015)

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

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

A Nonsense Mutation in the IKBKG Gene in Mares with Incontinentia Pigmenti
por: Towers, Rachel E., et al.
Publicado: (2013)

Novel Brown Coat Color (Cocoa) in French Bulldogs Results from a Nonsense Variant in HPS3
por: Kiener, Sarah, et al.
Publicado: (2020)

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

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

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

A Nonsense Variant in the ST14 Gene in Akhal-Teke Horses with Naked Foal Syndrome
por: Bauer, Anina, et al.
Publicado: (2017)

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

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

Congenital Hepatic Fibrosis in the Franches-Montagnes Horse Is Associated with the Polycystic Kidney and Hepatic Disease 1 (PKHD1) Gene
por: Drögemüller, Michaela, et al.
Publicado: (2014)

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

A GJA9 frameshift variant is associated with polyneuropathy in Leonberger dogs
por: Becker, Doreen, 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)

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

A RAB3GAP1 SINE Insertion in Alaskan Huskies with Polyneuropathy, Ocular Abnormalities, and Neuronal Vacuolation (POANV) Resembling Human Warburg Micro Syndrome 1 (WARBM1)
por: Wiedmer, Michaela, et al.
Publicado: (2015)

Identification of a Missense Variant in MFSD12 Involved in Dilution of Phaeomelanin Leading to White or Cream Coat Color in Dogs
por: Hédan, Benoit, et al.
Publicado: (2019)

Dystrophin (DMD) Missense Variant in Cats with Becker-Type Muscular Dystrophy
por: Hilton, Stephanie, 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)

A Frameshift Mutation in the Cubilin Gene (CUBN) in Border Collies with Imerslund-Gräsbeck Syndrome (Selective Cobalamin Malabsorption)
por: Owczarek-Lipska, Marta, et al.
Publicado: (2013)

Imputation of sequence level genotypes in the Franches-Montagnes horse breed
por: Frischknecht, Mirjam, et al.
Publicado: (2014)

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

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

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

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

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)

LAMB3 Missense Variant in Australian Shepherd Dogs with Junctional Epidermolysis Bullosa
por: Kiener, Sarah, et al.
Publicado: (2020)

Impaired Cell Cycle Regulation in a Natural Equine Model of Asthma
por: Pacholewska, Alicja, et al.
Publicado: (2015)

The Transcriptome of Equine Peripheral Blood Mononuclear Cells
por: Pacholewska, Alicja, et al.
Publicado: (2015)

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)

ACADM Frameshift Variant in Cavalier King Charles Spaniels with Medium-Chain Acyl-CoA Dehydrogenase Deficiency
por: Christen, Matthias, et al.
Publicado: (2022)

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

Independent DSG4 frameshift variants in cats with hair shaft dystrophy
por: Kiener, Sarah, et al.
Publicado: (2021)

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

Selection signatures in goats reveal copy number variants underlying breed-defining coat color phenotypes
por: Henkel, Jan, et al.
Publicado: (2019)

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

Cannot write session to /tmp/vufind_sessions/sess_osgu6ugl5tt5hpih62mlbo6gjf