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Whole-Genome Sequencing of a Canine Family Trio Reveals a FAM83G Variant Associated with Hereditary Footpad Hyperkeratosis

Autor: Shumaila Sayyab, Agnese Viluma, Kerstin Bergvall, Emma Brunberg, Vidhya Jagannathan, Tosso Leeb, Göran Andersson, Tomas F. Bergström

Publikováno v: G3: Genes, Genomes, Genetics, Vol 6, Iss 3, Pp 521-527 (2016)

Over 250 Mendelian traits and disorders, caused by rare alleles have been mapped in the canine genome. Although each disease is rare in the dog as a species, they are collectively common and have major impact on canine health. With SNP-based genotypi

Externí odkaz: https://doaj.org/article/d2137babd37d4439b06711d36628f189

Protein associated with SMAD1 (PAWS1/FAM83G) is a substrate for type I bone morphogenetic protein receptors and modulates bone morphogenetic protein signalling

Autor: Janis Vogt, Kevin S. Dingwell, Lina Herhaus, Robert Gourlay, Thomas Macartney, David Campbell, James C. Smith, Gopal P. Sapkota

Publikováno v: Open Biology, Vol 4, Iss 2 (2014)

Bone morphogenetic proteins (BMPs) control multiple cellular processes in embryos and adult tissues. BMPs signal through the activation of type I BMP receptor kinases, which then phosphorylate SMADs 1/5/8. In the canonical pathway, this triggers the

Externí odkaz: https://doaj.org/article/cd09befeb687451bb7705bf7e0827b03

Whole-Genome Sequencing of a Canine Family Trio Reveals a FAM83G Variant Associated with Hereditary Footpad Hyperkeratosis

Autor: Kerstin Bergvall, Shumaila Sayyab, Tomas F. Bergström, Vidhya Jagannathan, Göran Andersson, Agnese Viluma, Emma Brunberg, Tosso Leeb

Publikováno v: Sayyab, Shumaila; Viluma, Agnese; Bergvall, Kerstin; Brunberg, Emma; Jagannathan, Vidhya; Leeb, Tosso; Andersson, Göran; Bergström, Tomas F (2016). Whole-Genome Sequencing of a Canine Family Trio Reveals a FAM83G Variant Associated with Hereditary Footpad Hyperkeratosis. G3 Genes Genomes Genetics, 6(3), pp. 521-527. Genetics Society of America 10.1534/g3.115.025643
G3: Genes, Genomes, Genetics, Vol 6, Iss 3, Pp 521-527 (2016)
G3: Genes|Genomes|Genetics

Over 250 Mendelian traits and disorders, caused by rare alleles have been mapped in the canine genome. Although each disease is rare in the dog as a species, they are collectively common and have major impact on canine health. With SNP-based genotypi

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::762010ab61e6562b365613e98afb5aed
https://doi.org/10.1534/g3.115.025643

PAWS1 controls cytoskeletal dynamics and cell migration through association with the SH3 adaptor CD2AP

Autor: Cummins, Timothy D., Wu, Kevin Z. L., Bozatzi, Polyxeni, Dingwell, Kevin S., Macartney, Thomas J., Wood, Nicola T., Varghese, Joby, Gourlay, Robert, Campbell, David G., Prescott, Alan, Griffis, Eric, Smith, James C., Sapkota, Gopal P.

Publikováno v: Journal of Cell Science

Our previous studies of PAWS1 (protein associated with SMAD1; also known as FAM83G) have suggested that this molecule has roles beyond BMP signalling. To investigate these roles, we have used CRISPR/Cas9 to generate PAWS1-knockout U2OS osteosarcoma c

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::d335b64e88ae40d127dc43352fdf135f
http://europepmc.org/articles/PMC5818054