نتائج البحث - "Sruthi Hundi"

المساهمون: Hannes Tapani Lohi / Principal Investigator, Veterinary Biosciences, Department of Medical and Clinical Genetics, Veterinary Genetics, Small Animal Hospital, Equine and Small Animal Medicine, STEMM - Stem Cells and Metabolism Research Program, Research Programs Unit, Helsinki One Health (HOH), Barsh, Gregory S

المصدر: PLoS Genetics, Vol 16, Iss 3, p e1008659 (2020)
PLoS genetics, vol 16, iss 3

مصطلحات موضوعية: Retinal degeneration, Male, Cancer Research, Transcription factor complex, Genome-wide association study, Neurodegenerative, QH426-470, Eye, 0302 clinical medicine, Models, BINDING, 2.1 Biological and endogenous factors, Dog Diseases, Aetiology, Frameshift Mutation, MUTATION, Genetics (clinical), Progressive retinal atrophy, Genetics, Endothelin-2, 0303 health sciences, medicine.diagnostic_test, Retinal Degeneration, 1184 Genetics, developmental biology, physiology, 3. Good health, Pedigree, Phenotype, ANIMAL-MODELS, MINIATURE SCHNAUZER DOGS, DoGA Consortium, Female, PROGRESSIVE RETINAL ATROPHY, Retinitis Pigmentosa, Biotechnology, EXPRESSION, DATABASE, Biology, Retina, Collagen Type IX, 03 medical and health sciences, Dogs, Rare Diseases, Retinitis pigmentosa, medicine, Animals, Molecular Biology, Gene, Eye Disease and Disorders of Vision, Ecology, Evolution, Behavior and Systematics, 030304 developmental biology, Genetic testing, LANDSCAPE, Animal, Haplotype, Human Genome, Neurosciences, medicine.disease, CONE DEGENERATION, Haplotypes, Case-Control Studies, Mutation, UPDATE, 030217 neurology & neurosurgery, Genome-Wide Association Study, Developmental Biology

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URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f3a241c9c66564ddd82a035e0f947c5b
http://hdl.handle.net/10138/314668

8

Deep sequencing of a candidate region harboring theSOX9gene for the canine XX disorder of sex development

المؤلفون: Marek Switonski, Adrian Grzemski, Joanna Nowacka-Woszuk, Sruthi Hundi, Maciej Szydlowski, Hannes Lohi, Marjo K. Hytönen, Krzysztof Flisikowski, Hubert Pausch, Izabela Szczerbal

المصدر: Animal Genetics. 48:330-337

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d45288d72ecacfdd40186303b11cdf19
https://doi.org/10.1111/age.12538

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9

A homozygous missense variant in the alkaline phosphatase gene ALPL is associated with a severe form of canine hypophosphatasia

المؤلفون: Meharji Arumilli, Kaisa Kyöstilä, Sruthi Hundi, Pernilla Syrjä, Anu K. Lappalainen, Hannes Lohi, Marjo K. Hytönen, Veera Karkamo, Ranno Viitmaa

المساهمون: Department of Medical and Clinical Genetics, STEMM - Stem Cells and Metabolism Research Program, Veterinary Biosciences, University of Helsinki, Research Programs Unit, Research Programme for Molecular Neurology, Veterinary Pathology and Parasitology, Antti Sukura / Principal Investigator, Departments of Faculty of Veterinary Medicine, Equine and Small Animal Medicine, Hannes Tapani Lohi / Principal Investigator, Medicum, Genome-Scale Biology (GSB) Research Program, Faculty of Veterinary Medicine, Veterinary Genetics, Helsinki One Health (HOH), Petbone – ortopedia, fysioterapia, kivunlievitys

المصدر: Scientific Reports, Vol 9, Iss 1, Pp 1-11 (2019)
Scientific Reports

مصطلحات موضوعية: Male, 0301 basic medicine, VITAMIN-B6, Hypophosphatasia, lcsh:Medicine, Breeding, 413 Veterinary science, medicine.disease_cause, 0302 clinical medicine, MATRIX VESICLES, Osteogenesis, Genotype, PYRIDOXAL-5'-PHOSPHATE, Missense mutation, Dog Diseases, lcsh:Science, PERINATAL HYPOPHOSPHATASIA, MUTATION, Conserved Sequence, Exome sequencing, Genetics, Mutation, Multidisciplinary, Homozygote, 1184 Genetics, developmental biology, physiology, ALPL, GENOTYPE, Pedigree, 3. Good health, Ethanolamines, Alkaline phosphatase, Female, BONE, Mutation, Missense, Biology, Article, Metabolic bone disease, 03 medical and health sciences, Calcification, Physiologic, Dogs, Protein Domains, Exome Sequencing, medicine, Animals, INFANTILE HYPOPHOSPHATASIA, Amino Acid Sequence, NOSOLOGY, lcsh:R, Alkaline Phosphatase, medicine.disease, 030104 developmental biology, PYRIDOXINE-RESPONSIVE SEIZURES, lcsh:Q, 3111 Biomedicine, 030217 neurology & neurosurgery

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::03d19f9f84fd75e1a7e249c427ea1ce7
https://doi.org/10.1038/s41598-018-37801-2

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10

Assembly and Analysis of Unmapped Genome Sequence Reads Reveal Novel Sequence and Variation in Dogs

المؤلفون: Jarkko Salojärvi, Lindsay A. Holden, Kim H. Brown, Hannes Lohi, Meharji Arumilli, Marjo K. Hytönen, Sruthi Hundi

المساهمون: School of Biological Sciences, Research Programs Unit, Hannes Tapani Lohi / Principal Investigator, Veterinary Biosciences, Research Programme for Molecular Neurology, Veterinary Genetics, Biosciences, Organismal and Evolutionary Biology Research Programme, Viikki Plant Science Centre (ViPS), Bioinformatics for Molecular Biology and Genomics (BMBG), Medicum

المصدر: Scientific Reports
Scientific Reports, Vol 8, Iss 1, Pp 1-11 (2018)

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6e988ac749fc669fd9ab63c14a5f1e6d
http://europepmc.org/articles/PMC6052005

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