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

Authors: Jacinto, Joana G.P.^1,2 (AUTHOR), Letko, Anna¹ (AUTHOR), Häfliger, Irene M.¹ (AUTHOR), Akyürek, Eylem Emek³ (AUTHOR), Sacchetto, Roberta³ (AUTHOR), Gentile, Arcangelo⁴ (AUTHOR), Drögemüller, Cord¹ (AUTHOR) cord.droegemueller@unibe.ch

Source: Scientific Reports. 12/28/2024, Vol. 14 Issue 1, p1-14. 14p.

Subject Terms: *GENETIC variation, *LIFE sciences, *HOLSTEIN-Friesian cattle, *WHOLE genome sequencing, *MONOGENIC & polygenic inheritance (Genetics)

Organoids of patient‐derived medullary thyroid carcinoma: The first milestone towards a new in vitro model in dogs

Authors: Scheemaeker, Stephanie, Inglebert, Marine, Daminet, Sylvie, Dettwiler, Martina, Letko, Anna, Drögemüller, Cord, Kessler, Martin, Ducatelle, Richard, Rottenberg, Sven, Campos, Miguel

Source: Veterinary and comparative oncology. 21(1):111-122

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100173693713.0x000001&indx=1&recIds=ETOCvdc_100173693713.0x000001

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

Authors: Jacinto, Joana Goncalves Pontes^1,2 (AUTHOR), Letko, Anna¹ (AUTHOR), Häfliger, Irene Monika¹ (AUTHOR), Drögemüller, Cord¹ (AUTHOR) cord.droegemueller@unibe.ch, Agerholm, Jørgen Steen³ (AUTHOR)

Source: Acta Veterinaria Scandinavica. 7/4/2024, Vol. 66 Issue 1, p1-17. 17p.

Subject Terms: *HOLSTEIN-Friesian cattle, *CALVES, *WHOLE genome sequencing, *ARNOLD-Chiari deformity, *GENOME-wide association studies, *ANIMAL diseases, *CATTLE breeds

Loss-of-function variant in the ovine TMCO6 gene in North Country Cheviot sheep with motor neuron disease

Authors: Letko, Anna, Brülisauer, Franz, Häfliger, Irene M., Corr, Eilidh, Scholes, Sandra, Drögemüller, Cord

Source: In Genomics September 2023 115(5)

MFSD2A frameshift variant in Kerry Hill sheep with microcephaly.

Authors: Rudd Garces, Gabriela¹ (AUTHOR), Letko, Anna² (AUTHOR), Häfliger, Irene M.² (AUTHOR), Müller, Jana³ (AUTHOR), Herden, Christiane^3,4 (AUTHOR), Nesseler, Anne⁵ (AUTHOR), Wagner, Henrik⁶ (AUTHOR), Schmidt, Martin J.⁷ (AUTHOR), Drögemüller, Cord² (AUTHOR) cord.droegemueller@unibe.ch, Lühken, Gesine¹ (AUTHOR)

Source: Animal Genetics. Feb2024, Vol. 55 Issue 1, p152-157. 6p.

Subject Terms: *MICROCEPHALY, *SHEEP, *BRAIN abnormalities, *FAMILIAL spastic paraplegia, *DOMESTIC animals, *SYMPTOMS, *BLOOD-brain barrier, *ARTIFICIAL membranes

A RETREG1 variant is associated with hereditary sensory and autonomic neuropathy with acral self‐mutilation in purebred German Spitz.

Authors: Letko, Anna¹ (AUTHOR) anna.letko@unibe.ch, Quignon, Pascale¹ (AUTHOR), Quilleré, Maéva¹ (AUTHOR), Husson, Jean‐Charles² (AUTHOR), de Citres, Caroline Dufaure³ (AUTHOR), Donner, Jonas⁴ (AUTHOR), Dréano, Stéphane¹ (AUTHOR), Plassais, Jocelyn¹ (AUTHOR), André, Catherine¹ (AUTHOR)

Source: Animal Genetics. Dec2024, Vol. 55 Issue 6, p810-819. 10p.

Subject Terms: *PERIPHERAL neuropathy, *PERIPHERAL nervous system, *MISSENSE mutation, *ENDOPLASMIC reticulum, *HAPLOTYPES, *DOG breeds

A homozygous LAMB3frameshift variant in junctional epidermolysis bullosa-affected Bleu du Maine sheep

Authors: Letko, Anna, Harkema, Liesbeth, Peterson, Karianne, Dijkman, Reinie, Drögemüller, Cord

Source: Journal of Applied Genetics; 20250101, Issue: Preprints p1-6, 6p

Compound heterozygous PLA2G6 loss-of-function variants in Swaledale sheep with neuroaxonal dystrophy

Authors: Letko, Anna, Strugnell, Ben, Häfliger, Irene M., Paris, Julia M., Waine, Katie, Drögemüller, Cord, Scholes, Sandra

Source: Molecular genetics and genomics. 296(1):235-242

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100193226655.0x000001&indx=1&recIds=ETOCvdc_100193226655.0x000001

Chromosomal imbalance in pigs showing a syndromic form of cleft palate

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

Source: BMC genomics. 20(1):1-11

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100187437957.0x000001&indx=1&recIds=ETOCvdc_100187437957.0x000001

A GJA9 frameshift variant is associated with polyneuropathy in Leonberger dogs

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

Source: BMC genomics. 18(1):1-9

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100140513628.0x000001&indx=1&recIds=ETOCvdc_100140513628.0x000001

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

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

Source: Acta veterinaria scandinavica. 62(1)

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100171868054.0x000001&indx=1&recIds=ETOCvdc_100171868054.0x000001

A de novo variant in OTX2 in a lamb with otocephaly

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

Source: Acta veterinaria scandinavica. 62(1)

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100130837194.0x000001&indx=1&recIds=ETOCvdc_100130837194.0x000001

Genomic diversity and population structure of the Leonberger dog breed

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

Source: Genetics, selection, evolution. 52(1)

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100187108752.0x000001&indx=1&recIds=ETOCvdc_100187108752.0x000001

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

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

Source: Genetics, selection, evolution. 52(1)

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100187108721.0x000001&indx=1&recIds=ETOCvdc_100187108721.0x000001

Independent COL17A1 Variants in Cats with Junctional Epidermolysis Bullosa.

Authors: Kiener, Sarah, Troyer, Heather, Ruvolo, Daniel, Grest, Paula, Soto, Sara, Letko, Anna, Jagannathan, Vidhya, Leeb, Tosso, Mauldin, Elizabeth A., Yang, Ching, Rostaher, Ana

Source: Genes; Oct2023, Vol. 14 Issue 10, p1835, 12p

Subject Terms: EPIDERMOLYSIS bullosa, WHOLE genome sequencing, CATS, DOMESTIC animals, ORAL mucosa, EAR

SGCD Missense Variant in a Lagotto Romagnolo Dog with Autosomal Recessively Inherited Limb-Girdle Muscular Dystrophy.

Authors: Brunetti, Barbara, Bacci, Barbara, Abbate, Jessica Maria, Tura, Giorgia, Paciello, Orlando, Vaccaro, Emanuela, Prisco, Francesco, Gandini, Gualtiero, Okonji, Samuel, Paola, Andrea di, Letko, Anna, Drögemüller, Cord, Jagannathan, Vidhya, Turba, Maria Elena, Ogundipe, Tolulope Grace, Lorenzini, Luca, Rosati, Marco, Psalla, Dimitra, Leeb, Tosso, Drögemüller, Michaela

Source: Genes; Aug2023, Vol. 14 Issue 8, p1641, 13p

Subject Terms: LIMB-girdle muscular dystrophy, MISSENSE mutation, DOG breeds, DOGS, WESTERN immunoblotting, RESPIRATORY muscles, FACIOSCAPULOHUMERAL muscular dystrophy

A frameshift insertion in FA2H causes a recessively inherited form of ichthyosis congenita in Chianina cattle.

Authors: Jacinto, Joana G. P.^1,2, Häfliger, Irene M.², Veiga, Inês M. B.³, Letko, Anna², Gentile, Arcangelo¹, Drögemüller, Cord², cord.droegemueller@vetsuisse.unibe.ch

Source: Molecular Genetics & Genomics; Nov2021, Vol. 296 Issue 6, p1313-1322, 10p

Genetic evaluation of small ruminant lentivirus susceptibility in Valais blacknose sheep

Authors: Letko, Anna, Bützberger, Charis, Hirter, Nathalie, Paris, Julia M., Abril, Carlos, Drögemüller, Cord

Source: Animal genetics. 52(5):781-782

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100141602289.0x000001&indx=1&recIds=ETOCvdc_100141602289.0x000001

Genomic Diversity and Runs of Homozygosity in Bernese Mountain Dogs.

Authors: Letko, Anna¹ (AUTHOR) anna.letko@univ-rennes1.fr, Hédan, Benoît¹ (AUTHOR), Snell, Anna² (AUTHOR), Harris, Alexander C.³ (AUTHOR), Jagannathan, Vidhya⁴ (AUTHOR), Andersson, Göran⁵ (AUTHOR), Holst, Bodil S.² (AUTHOR), Ostrander, Elaine A.³ (AUTHOR), Quignon, Pascale¹ (AUTHOR), André, Catherine¹ (AUTHOR), Leeb, Tosso⁴ (AUTHOR)

Source: Genes. Mar2023, Vol. 14 Issue 3, p650. 12p.

Subject Terms: *HOMOZYGOSITY, *DOG breeds, *DOGS, *RETICULUM cell sarcoma, *FAMILY farms, *HEMATOLOGIC malignancies, *NUCLEOTIDE sequencing

Geographic Terms: SWITZERLAND

Compound heterozygous PLA2G6 loss-of-function variants in Swaledale sheep with neuroaxonal dystrophy.

Authors: Letko, Anna¹, Strugnell, Ben², Häfliger, Irene M.¹, Paris, Julia M.¹, Waine, Katie³, Drögemüller, Cord¹, cord.droegemueller@vetsuisse.unibe.ch, Scholes, Sandra⁴

Source: Molecular Genetics & Genomics; 2021, Vol. 296 Issue 1, p235-242, 8p