المؤلفون: Yu, Yoshihiko, Creighton, Erica K., Buckley, Reuben M., Lyons, Leslie A., Aberdein, Danielle, Alves, Paulo C., Barsh, Gregory S., Bellone, Rebecca R., Bergström, Tomas F., Boyko, Adam R., Brockman, Jeffrey A., Casal, Margret L., Castelhano, Marta G., Distl, Ottmar, Dodman, Nicholas H., Ellinwood, N. Matthew, Fogle, Jonathan E., Forman, Oliver P., Garrick, Dorian J., Ginns, Edward I., Häggström, Jens, Harvey, Robert J., Hasegawa, Daisuke, Haase, Bianca, Helps, Christopher R., Hernandez, Isabel, Hytönen, Marjo K., Kaukonen, Maria, Kaelin, Christopher B., Kosho, Tomoki, Leclerc, Emilie, Lear, Teri L., Leeb, Tosso, Li, Ronald H.L., Lohi, Hannes, Longeri, Maria, Magnuson, Mark A., Malik, Richard, Mane, Shrinivasrao P., Munday, John S., Murphy, William J., Pedersen, Niels C., Peterson-Jones, Simon M., Rothschild, Max F., Rusbridge, Clare, Shapiro, Beth, Stern, Joshua A., Swanson, William F., Terio, Karen A., Todhunter, Rory J., Warren, Wesley C., Wilcox, Elizabeth A., Wildschutte, Julia H.

المساهمون: Medicum, Department of Medical and Clinical Genetics, Veterinary Biosciences, Hannes Tapani Lohi / Principal Investigator, Helsinki One Health (HOH), Veterinary Genetics, Biosciences

مصطلحات موضوعية: BMP12, Brain malformation, Feline, Felis catus, Genetics, Genome-wide association study, Genomics, Mendelian traits, Neurodevelopment, Whole genome sequencing, Veterinary science

وصف الملف: application/pdf

العلاقة: Funding: This study was supported by in part by NIH Office of Research Infrastructure Programs (OD R24OD01092), Winn Feline Foundation (MT-13-010), the Cat Health Network (D14FE-552) and the MU Gilbreath McLorn Endowment for Comparative Medicine (L.A.L.). The authors thank the JSPS Overseas Challenge Program for Young Researchers (2017–2018) for sponsoring the visiting scholarship (Y.Y.) and the financial support from Mars, Inc. (R.M.B.).; Yu , Y , Creighton , E K , Buckley , R M , Lyons , L A , Buckley , R M , Aberdein , D , Alves , P C , Barsh , G S , Bellone , R R , Bergström , T F , Boyko , A R , Brockman , J A , Casal , M L , Castelhano , M G , Distl , O , Dodman , N H , Ellinwood , N M , Fogle , J E , Forman , O P , Garrick , D J , Ginns , E I , Häggström , J , Harvey , R J , Hasegawa , D , Haase , B , Helps , C R , Hernandez , I , Hytönen , M K , Kaukonen , M , Kaelin , C B , Kosho , T , Leclerc , E , Lear , T L , Leeb , T , Li , R H L , Lohi , H , Longeri , M , Magnuson , M A , Malik , R , Mane , S P , Munday , J S , Murphy , W J , Pedersen , N C , Peterson-Jones , S M , Rothschild , M F , Rusbridge , C , Shapiro , B , Stern , J A , Swanson , W F , Terio , K A , Todhunter , R J , Warren , W C , Wilcox , E A , Wildschutte , J H , Yu , Y & Lyons , L A 2020 , ' A deletion in GDF7 is associated with a heritable forebrain commissural malformation concurrent with ventriculomegaly and interhemispheric cysts in cats ' , Genes , vol. 11 , no. 6 , 672 . https://doi.org/10.3390/genes11060672Test; ORCID: /0000-0003-1976-5874/work/108463192; ORCID: /0000-0002-2146-4694/work/108464161; http://hdl.handle.net/10138/340614Test; 545d83fe-5b41-431b-af9f-c7c5283ca6fa; 85087033347; 000550922700001

الإتاحة: http://hdl.handle.net/10138/340614Test

المؤلفون: Yu, Yoshihiko, Creighton, Erica K., Buckley, Reuben M., Lyons, Leslie A., Aberdein, Danielle, Alves, Paulo C., Barsh, Gregory S., Bellone, Rebecca R., Bergström, Tomas F., Boyko, Adam R., Brockman, Jeffrey A., Casal, Margret L., Castelhano, Marta G., Distl, Ottmar, Dodman, Nicholas H., Ellinwood, N. Matthew, Fogle, Jonathan E., Forman, Oliver P., Garrick, Dorian J., Ginns, Edward I., Häggström, Jens, Harvey, Robert J., Hasegawa, Daisuke, Haase, Bianca, Helps, Christopher R., Hernandez, Isabel, Hytönen, Marjo K., Kaukonen, Maria, Kaelin, Christopher B., Kosho, Tomoki, Leclerc, Emilie, Lear, Teri L., Leeb, Tosso, Li, Ronald H.L., Lohi, Hannes, Longeri, Maria, Magnuson, Mark A., Malik, Richard, Mane, Shrinivasrao P., Munday, John S., Murphy, William J., Pedersen, Niels C., Peterson-Jones, Simon M., Rothschild, Max F., Rusbridge, Clare, Shapiro, Beth, Stern, Joshua A., Swanson, William F., Terio, Karen A., Todhunter, Rory J., Warren, Wesley C., Wilcox, Elizabeth A., Wildschutte, Julia H.

المساهمون: Medicum, Department of Medical and Clinical Genetics, Veterinary Biosciences, Hannes Tapani Lohi / Principal Investigator, Helsinki One Health (HOH), Veterinary Genetics, Biosciences

المصدر: Genes
Genes, vol 11, iss 6
Volume 11
Issue 6
Genes, Vol 11, Iss 672, p 672 (2020)

مصطلحات موضوعية: 0301 basic medicine, Genome-wide association study, 413 Veterinary science, 0403 veterinary science, Mice, 2.1 Biological and endogenous factors, genetics, Aetiology, feline, Genetics (clinical), Sanger sequencing, Genetics, whole genome sequencing, CATS, neurodevelopment, mendelian traits, Homozygote, Felis catus, 04 agricultural and veterinary sciences, Disease gene identification, Pedigree, Phenotype, Bone Morphogenetic Proteins, symbols, Hydrocephalus, Telencephalic Commissures, lcsh:QH426-470, Genotype, 040301 veterinary sciences, Biology, Nervous System Malformations, Article, Lives Consortium, 03 medical and health sciences, symbols.namesake, medicine, genomics, Animals, Genetic association, Whole genome sequencing, genome-wide association study, Human Genome, brain malformation, Neurosciences, Chromosome, BMP12, medicine.disease, lcsh:Genetics, 030104 developmental biology, Cats, Ventriculomegaly

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cd4448affe349042df7fc2a78a3af6c1Test
http://europepmc.org/articles/PMC7349246Test

المؤلفون: Mauler, D.A., Gandolfi, B., Reinero, C.R., O'Brien, D.P., Spooner, J.L., Lyons, L.A., Aberdein, Danielle, Alves, Paulo C., Barsh, Gregory S., Beale, Holly C., Boyko, Adam R., Brockman, Jeffrey A., Castelhano, Marta G., Chan, Patricia P., Matthew Ellinwood, N., Fogle, Jonathan E., Garrick, Dorian J., Helps, Christopher R., Hytönen, Marjo K., Kaukonen, Maria, Kaelin, Christopher B., Leclerc, Emilie, Leeb, Tosso, Lohi, Hannes, Longeri, Maria, Malik, Richard, Montague, Michael J., Munday, John S., Murphy, William J., Pedersen, Niels C., Rothschild, Max F., Stern, Joshua A., Swanson, William F., Terio, Karen A., Todhunter, Rory J., Ueda, Yu, Warren, Wesley C., Wilcox, Elizabeth A., Wildschutte, Julia H.

المساهمون: Medicum, Research Programme for Molecular Neurology, Hannes Tapani Lohi / Principal Investigator, Veterinary Genetics, Veterinary Biosciences, Research Programs Unit

المصدر: Journal of Veterinary Internal Medicine
Mauler, D A, Gandolfi, B, Reinero, C R, O'Brien, D P, Spooner, J L, Lyons, L A, Aberdein, D, Alves, P C, Barsh, G S, Beale, H C, Boyko, A R, Brockman, J A, Castelhano, M G, Chan, P P, Matthew Ellinwood, N, Fogle, J E, Garrick, D J, Helps, C R, Hytönen, M K, Kaukonen, M, Kaelin, C B, Leclerc, E, Leeb, T, Lohi, H, Longeri, M, Malik, R, Montague, M J, Munday, J S, Murphy, W J, Pedersen, N C, Rothschild, M F, Stern, J A, Swanson, W F, Terio, K A, Todhunter, R J, Ueda, Y, Warren, W C, Wilcox, E A & Wildschutte, J H 2017, ' Precision medicine in cats : novel niemann-pick type C1 diagnosed by whole-genome sequencing ', Journal of Veterinary Internal Medicine, vol. 31, no. 2, pp. 539-544 . https://doi.org/10.1111/jvim.14599Test

مصطلحات موضوعية: 0301 basic medicine, Pathology, medicine.medical_specialty, Felis silvestris catus, SIAMESE CATS, Population, Case Report, Genomics, Case Reports, Biology, PHENOTYPE, 413 Veterinary science, medicine.disease_cause, DNA sequencing, Feline, Lysosomal storage, 03 medical and health sciences, LIPIDOSIS, 0302 clinical medicine, medicine, Missense mutation, education, Gene, Genetics, Whole genome sequencing, education.field_of_study, Mutation, CATS, IDENTIFICATION, General Veterinary, MUTATIONS, ABNORMALITIES, NPC1, 3. Good health, MODEL, 030104 developmental biology, Neurology, 2-HYDROXYPROPYL-BETA-CYCLODEXTRIN, SMALL ANIMAL, DISEASE TYPE-C, SYSTEM, WGS, 030217 neurology & neurosurgery

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4ee09e34dda039cb3d99f022d5274222Test
https://doi.org/10.1111/jvim.14599Test

المؤلفون: Donner, Jonas, Anderson, Heidi, Davison, Stephen, Hughes, Angela M., Bouirmane, Julia, Lindqvist, Johan, Lytle, Katherine M., Ganesan, Balasubramanian, Ottka, Claudia, Ruotanen, Päivi, Kaukonen, Maria, Forman, Oliver P., Fretwell, Neale, Cole, Cynthia A., Lohi, Hannes

المصدر: PLoS Genetics; 4/30/2018, Vol. 14 Issue 5, p1-20, 20p

مصطلحات موضوعية: DOG breeds, VETERINARY medicine, GENOMICS, NUCLEOTIDE sequencing, VACCINES

المؤلفون: Everson, Richard, Pettitt, Louise, Forman, Oliver P., Dower-Tylee, Olivia, McLaughlin, Bryan, Ahonen, Saija, Kaukonen, Maria, Komáromy, András M., Lohi, Hannes, Mellersh, Cathryn S., Sansom, Jane, Ricketts, Sally L.

المصدر: PLoS ONE; 8/16/2017, Vol. 12 Issue 8, p1-14, 14p

مصطلحات موضوعية: RETINAL diseases, DIABETIC retinopathy, GENE expression, CHROMOSOMES, ANIMAL health, DOGS

المؤلفون: Ahonen, Saija J., Arumilli, Meharji, Seppälä, Eija, Hakosalo, Osmo, Kaukonen, Maria K., Komáromy, András M., Lohi, Hannes

المصدر: PLoS ONE; Dec2014, Vol. 9 Issue 12, p1-19, 19p

مصطلحات موضوعية: RETINAL degeneration, DISEASE progression, ATROPHY, RETINITIS pigmentosa, MAMMAL genetics, GENE expression in mammals