Whole genome sequencing reveals candidate causal genetic variants for spastic syndrome in Holstein cattle

Authors: Joana G.P. Jacinto, Anna Letko, Irene M. Häfliger, Eylem Emek Akyürek, Roberta Sacchetto, Arcangelo Gentile, Cord Drögemüller

Source: Scientific Reports, Vol 14, Iss 1, Pp 1-14 (2024)

Subject Terms: Medicine, Science

File Description: electronic resource

Relation: https://doaj.org/toc/2045-2322

Access URL: https://doaj.org/article/d943c9916545423ab092f6f25779c7a4

Congenital syndromic Chiari-like malformation (CSCM) in Holstein cattle: towards unravelling of possible genetic causes

Authors: Joana Goncalves Pontes Jacinto, Anna Letko, Irene Monika Häfliger, Cord Drögemüller, Jørgen Steen Agerholm

Source: Acta Veterinaria Scandinavica, Vol 66, Iss 1, Pp 1-17 (2024)

Subject Terms: Bos taurus, Chromosomal abnormalities, Congenital defect, DYNC1H1, Haploinsufficiency, Neural tube defect, Veterinary medicine, SF600-1100

File Description: electronic resource

Relation: https://doaj.org/toc/1751-0147

Access URL: https://doaj.org/article/e628d5d57f734e8e8c69175fbec5f45f

A living biobank of canine mammary tumor organoids as a comparative model for human breast cancer

Authors: Marine Inglebert, Martina Dettwiler, Kerstin Hahn, Anna Letko, Cord Drogemuller, John Doench, Adam Brown, Yasin Memari, Helen R. Davies, Andrea Degasperi, Serena Nik-Zainal, Sven Rottenberg

Source: Scientific Reports, Vol 12, Iss 1, Pp 1-14 (2022)

Subject Terms: Medicine, Science

File Description: electronic resource

Relation: https://doaj.org/toc/2045-2322

Access URL: https://doaj.org/article/1b8033cd3024446a898fc0b4f392563e

Genomic diversity and population structure of the Leonberger dog breed

Authors: Anna Letko, Katie M. Minor, Vidhya Jagannathan, Franz R. Seefried, James R. Mickelson, Pieter Oliehoek, Cord Drögemüller

Source: Genetics Selection Evolution, Vol 52, Iss 1, Pp 1-12 (2020)

Subject Terms: Animal culture, SF1-1100, Genetics, QH426-470

File Description: electronic resource

Relation: http://link.springer.com/article/10.1186/s12711-020-00581-3; https://doaj.org/toc/1297-9686

Access URL: https://doaj.org/article/2271adbab901481bb97ed4e5c4110ec8

A large deletion in the COL2A1 gene expands the spectrum of pathogenic variants causing bulldog calf syndrome in cattle

Authors: Joana Gonçalves Pontes Jacinto, Irene Monika Häfliger, Anna Letko, Cord Drögemüller, Jørgen Steen Agerholm

Source: Acta Veterinaria Scandinavica, Vol 62, Iss 1, Pp 1-8 (2020)

Subject Terms: Chondrodysplasia, Congenital, Malformation, Precision medicine, Rare disease, Type II collagenopathy, Veterinary medicine, SF600-1100

File Description: electronic resource

Relation: http://link.springer.com/article/10.1186/s13028-020-00548-w; https://doaj.org/toc/1751-0147

Access URL: https://doaj.org/article/079fcc0c24d94745b8b65811126ef3ca

A de novo variant in OTX2 in a lamb with otocephaly

Authors: Julia Maria Paris, Anna Letko, Irene Monika Häfliger, Tanja Švara, Mitja Gombač, Primož Klinc, Andrej Škibin, Estera Pogorevc, Cord Drögemüller

Source: Acta Veterinaria Scandinavica, Vol 62, Iss 1, Pp 1-6 (2020)

Subject Terms: Agnathia, Domestic animal, Microstomia, Precision medicine, Rare disease, Synotia, Veterinary medicine, SF600-1100

File Description: electronic resource

Relation: https://doaj.org/toc/1751-0147

Access URL: https://doaj.org/article/b33ec61ba5214b278789e8d9aa3c3859

Chromosomal imbalance in pigs showing a syndromic form of cleft palate

Authors: Alexander Grahofer, Anna Letko, Irene Monika Häfliger, Vidhya Jagannathan, Alain Ducos, Olivia Richard, Vanessa Peter, Heiko Nathues, Cord Drögemüller

Source: BMC Genomics, Vol 20, Iss 1, Pp 1-11 (2019)

Subject Terms: Pig, Palatoschisis, Teeth, Kidney cysts, Artificial insemination, Malformation, Biotechnology, TP248.13-248.65, Genetics, QH426-470

File Description: electronic resource

Relation: http://link.springer.com/article/10.1186/s12864-019-5711-4; https://doaj.org/toc/1471-2164

Access URL: https://doaj.org/article/d775fbf4c1d743cf9a855421e2ec80e0

A GJA9 frameshift variant is associated with polyneuropathy in Leonberger dogs

Authors: Doreen Becker, Katie M. Minor, Anna Letko, Kari J. Ekenstedt, Vidhya Jagannathan, Tosso Leeb, G. Diane Shelton, James R. Mickelson, Cord Drögemüller

Source: BMC Genomics, Vol 18, Iss 1, Pp 1-9 (2017)

Subject Terms: Dog, Rare disease, Neurological disorder, Peripheral nerve, Polyneuropathy, Charcot-Marie-tooth, Biotechnology, TP248.13-248.65, Genetics, QH426-470

File Description: electronic resource

Relation: http://link.springer.com/article/10.1186/s12864-017-4081-z; https://doaj.org/toc/1471-2164

Access URL: https://doaj.org/article/efd0344bb0464ac18efc042352576dd5

Correction to: Genomic diversity and population structure of the Leonberger dog breed

Authors: Anna Letko, Katie M. Minor, Vidhya Jagannathan, Franz R. Seefried, James R. Mickelson, Pieter Oliehoek, Cord Drögemüller

Source: Genetics Selection Evolution, Vol 52, Iss 1, Pp 1-1 (2020)

Subject Terms: Animal culture, SF1-1100, Genetics, QH426-470

File Description: electronic resource

Relation: http://link.springer.com/article/10.1186/s12711-020-00590-2; https://doaj.org/toc/1297-9686

Access URL: https://doaj.org/article/f27099aefcdf42ebad959923bd727977

A Heterozygous Missense Variant in the COL5A2 in Holstein Cattle Resembling the Classical Ehlers–Danlos Syndrome

Authors: Joana G. P. Jacinto, Irene M. Häfliger, Inês M. B. Veiga, Anna Letko, Cinzia Benazzi, Marilena Bolcato, Cord Drögemüller

Source: Animals, Vol 10, Iss 11, p 2002 (2020)

Subject Terms: Bos taurus, collagen dysplasia, collagen V, connective tissue, precision medicine, skin fragility, Veterinary medicine, SF600-1100, Zoology, QL1-991

File Description: electronic resource

Relation: https://www.mdpi.com/2076-2615/10/11/2002; https://doaj.org/toc/2076-2615

Access URL: https://doaj.org/article/8600b051583d45bdb9383f37990eec56