Suvi Mäkeläinen
- E-post:
- suvi.makelainen@uu.se
- Besöksadress:
- Dag Hammarskjölds väg 20
751 85 Uppsala - Postadress:
- Rudbecklaboratoriet
751 85 UPPSALA
Kort presentation
Min forskning fokuserar på hundgenetik och komparativ genomik. Mina huvudsakliga forskningsintressen är cancergenetik, degenerativa näthinnesjukdomar och skelettdysplasi hos hundar. Det jämförande tillvägagångssättet hjälper till att identifiera sjukdomsrelaterade gener och pathways som är relevanta för både hundars och människors hälsa, vilket förbättrar vår förståelse av genetiska sjukdomar och potentiella terapeutiska mål.
Nyckelord
- comparative genomics
- cancer genomics
- computational biology
- canine genetics
- retinal degeneration
- skeletal dysplasia
- ciliopathy
Publikationer
Senaste publikationer
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A nonsense mutation in the PRKG2 gene in dalmatian dogs with chondrodysplasia
Ingår i PLOS ONE, 2025
- DOI för A nonsense mutation in the PRKG2 gene in dalmatian dogs with chondrodysplasia
- Ladda ner fulltext (pdf) av A nonsense mutation in the PRKG2 gene in dalmatian dogs with chondrodysplasia
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Using evolutionary constraint to define novel candidate driver genes in medulloblastoma
Ingår i Proceedings of the National Academy of Sciences of the United States of America, 2023
- DOI för Using evolutionary constraint to define novel candidate driver genes in medulloblastoma
- Ladda ner fulltext (pdf) av Using evolutionary constraint to define novel candidate driver genes in medulloblastoma
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Ingår i Translational Vision Science & Technology, 2022
- DOI för Abnormal Appearance of the Area Centralis in Labrador Retrievers With an ABCA4 Loss-of-function Mutation
- Ladda ner fulltext (pdf) av Abnormal Appearance of the Area Centralis in Labrador Retrievers With an ABCA4 Loss-of-function Mutation
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A novel canine reference genome resolves genomic architecture and uncovers transcript complexity
Ingår i Communications Biology, 2021
- DOI för A novel canine reference genome resolves genomic architecture and uncovers transcript complexity
- Ladda ner fulltext (pdf) av A novel canine reference genome resolves genomic architecture and uncovers transcript complexity
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An ABCA4 loss-of-function mutation causes a canine form of Stargardt disease
Ingår i PLOS Genetics, 2019
- DOI för An ABCA4 loss-of-function mutation causes a canine form of Stargardt disease
- Ladda ner fulltext (pdf) av An ABCA4 loss-of-function mutation causes a canine form of Stargardt disease
Alla publikationer
Artiklar i tidskrift
-
A nonsense mutation in the PRKG2 gene in dalmatian dogs with chondrodysplasia
Ingår i PLOS ONE, 2025
- DOI för A nonsense mutation in the PRKG2 gene in dalmatian dogs with chondrodysplasia
- Ladda ner fulltext (pdf) av A nonsense mutation in the PRKG2 gene in dalmatian dogs with chondrodysplasia
-
Using evolutionary constraint to define novel candidate driver genes in medulloblastoma
Ingår i Proceedings of the National Academy of Sciences of the United States of America, 2023
- DOI för Using evolutionary constraint to define novel candidate driver genes in medulloblastoma
- Ladda ner fulltext (pdf) av Using evolutionary constraint to define novel candidate driver genes in medulloblastoma
-
Ingår i Translational Vision Science & Technology, 2022
- DOI för Abnormal Appearance of the Area Centralis in Labrador Retrievers With an ABCA4 Loss-of-function Mutation
- Ladda ner fulltext (pdf) av Abnormal Appearance of the Area Centralis in Labrador Retrievers With an ABCA4 Loss-of-function Mutation
-
A novel canine reference genome resolves genomic architecture and uncovers transcript complexity
Ingår i Communications Biology, 2021
- DOI för A novel canine reference genome resolves genomic architecture and uncovers transcript complexity
- Ladda ner fulltext (pdf) av A novel canine reference genome resolves genomic architecture and uncovers transcript complexity
-
An ABCA4 loss-of-function mutation causes a canine form of Stargardt disease
Ingår i PLOS Genetics, 2019
- DOI för An ABCA4 loss-of-function mutation causes a canine form of Stargardt disease
- Ladda ner fulltext (pdf) av An ABCA4 loss-of-function mutation causes a canine form of Stargardt disease
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Oncopig Soft-Tissue Sarcomas Recapitulate Key Transcriptional Features of Human Sarcomas
Ingår i Scientific Reports, 2017