Zobrazeno 1 - 10
of 24
pro vyhledávání: '"Sukanya Horpaopan"'
Autor:
Preenapan Changphasuk, Chaturong Inpad, Sukanya Horpaopan, Sasiprapa Khunchai, Suchada Phimsen, Damratsamon Surangkul, Tavan Janvilisri, Atit Silsirivanit, Worasak Kaewkong
Publikováno v:
Frontiers in Bioscience-Scholar, Vol 16, Iss 3, p 17 (2024)
Background: Cholangiocarcinoma (CCA) is a malignancy of the bile duct epithelium that is commonly found in the Thai population. CCA has poor prognosis and a low survival rate due to the lack of early diagnosis methods and the limited effectiveness of
Externí odkaz:
https://doaj.org/article/4dccb91421974fdfbcbc6171c8ae01f2
Publikováno v:
BMC Medical Genomics, Vol 14, Iss 1, Pp 1-7 (2021)
Abstract Background Familial adenomatous polyposis (FAP) is caused by pathogenic germline variants in the APC gene. To date, multiple pathogenic variants in coding regions, splice sites, and deep intronic regions have been revealed. However, there ar
Externí odkaz:
https://doaj.org/article/da2caebe2a514a81b54fe334bbb92100
Autor:
Claudia Perne, Sophia Peters, Maria Cartolano, Sukanya Horpaopan, Christina Grimm, Janine Altmüller, Anna K Sommer, Axel M Hillmer, Holger Thiele, Margarete Odenthal, Gabriela Möslein, Ronja Adam, Sugirthan Sivalingam, Jutta Kirfel, Michal R Schweiger, Martin Peifer, Isabel Spier, Stefan Aretz
Publikováno v:
PLoS ONE, Vol 16, Iss 11, p e0259185 (2021)
The spectrum of somatic genetic variation in colorectal adenomas caused by biallelic pathogenic germline variants in the MSH3 gene, was comprehensively analysed to characterise mutational signatures and identify potential driver genes and pathways of
Externí odkaz:
https://doaj.org/article/6bc898b6a61f4b74a29ec7af0aec5145
Autor:
Sukanya Horpaopan, Jutta Kirfel, Sophia Peters, Michael Kloth, Robert Hüneburg, Janine Altmüller, Dmitriy Drichel, Margarete Odenthal, Glen Kristiansen, Christian Strassburg, Jacob Nattermann, Per Hoffmann, Peter Nürnberg, Reinhard Büttner, Holger Thiele, Philip Kahl, Isabel Spier, Stefan Aretz
Publikováno v:
Hereditary Cancer in Clinical Practice, Vol 15, Iss 1, Pp 1-10 (2017)
Abstract Background Serrated or Hyperplastic Polyposis Syndrome (SPS, HPS) is a yet poorly defined colorectal cancer (CRC) predisposition characterised by the occurrence of multiple and/or large serrated polyps throughout the colon. A serrated polyp-
Externí odkaz:
https://doaj.org/article/5480a21676224540bc4fbf489ce2257d
Publikováno v:
Genetic Epidemiology
An important aspect of disease gene mapping is replication, that is, a putative finding in one group of individuals is confirmed in another set of individuals. As it can happen by chance that individuals share an estimated disease position, we develo
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1fa9a6347428807ca6506c56c37b9f7c
http://europepmc.org/articles/PMC7540579
http://europepmc.org/articles/PMC7540579
Autor:
Jutta Kirfel, Christina Grimm, Claudia Perne, Janine Altmüller, Sophia Peters, Isabel Spier, Michal R. Schweiger, Gabriela Möslein, Martin Peifer, Holger Thiele, Stefan Aretz, Sugirthan Sivalingam, Axel M. Hillmer, Maria Cartolano, Margarete Odenthal, Anna Katharina Sommer, Sukanya Horpaopan, Ronja S. Adam
Publikováno v:
PLoS ONE, 16(11 November):e0259185. Public Library of Science
PLoS ONE
PLoS ONE, Vol 16, Iss 11, p e0259185 (2021)
PLoS ONE
PLoS ONE, Vol 16, Iss 11, p e0259185 (2021)
The spectrum of somatic genetic variation in colorectal adenomas caused by biallelic pathogenic germline variants in the MSH3 gene, was comprehensively analysed to characterise mutational signatures and identify potential driver genes and pathways of
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bf2fe7225f1f86ba7954e889016fb932
https://pure.amc.nl/en/publications/variant-profiling-of-colorectal-adenomas-from-three-patients-of-two-families-with-msh3related-adenomatous-polyposis(3da3631e-cf47-4513-b761-1d33eb027e9a).html
https://pure.amc.nl/en/publications/variant-profiling-of-colorectal-adenomas-from-three-patients-of-two-families-with-msh3related-adenomatous-polyposis(3da3631e-cf47-4513-b761-1d33eb027e9a).html
Publikováno v:
Genes
Volume 12
Issue 8
Genes, Vol 12, Iss 1160, p 1160 (2021)
Volume 12
Issue 8
Genes, Vol 12, Iss 1160, p 1160 (2021)
Some genetic diseases (“digenic traits”) are due to the interaction between two DNA variants, which presumably reflects biochemical interactions. For example, certain forms of Retinitis Pigmentosa, a type of blindness, occur in the presence of tw
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d8791ebb6c0215b37d55422d2626da10
https://doi.org/10.20944/preprints202107.0568.v1
https://doi.org/10.20944/preprints202107.0568.v1
Publikováno v:
BMC Medical Genomics
BMC Medical Genomics, Vol 14, Iss 1, Pp 1-7 (2021)
BMC Medical Genomics, Vol 14, Iss 1, Pp 1-7 (2021)
Background Familial adenomatous polyposis (FAP) is caused by pathogenic germline variants in the APC gene. To date, multiple pathogenic variants in coding regions, splice sites, and deep intronic regions have been revealed. However, there are still p
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::342cc4a370da455d0a82a91c95026ebb
https://pubmed.ncbi.nlm.nih.gov/33740971
https://pubmed.ncbi.nlm.nih.gov/33740971
Autor:
Reinhard Büttner, Tobias Doerks, Nils Rahner, Magnus von Knebel-Doeberitz, Stefan Herms, Christoph Engel, Verena Steinke-Lange, Sukanya Horpaopan, Stefanie Holzapfel, Deepak Vangala, Juul T. Wijnen, Hans K. Schackert, Sascha B. Fischer, Monika Morak, Susanne Moebus, Stefan Aretz, Sophia Peters, Katrin Kayser, Isabel Spier, Peer Bork, Franziska Degenhardt, Per Hoffmann
Publikováno v:
International Journal of Cancer. 143:2800-2813
In many families with suspected Lynch syndrome (LS), no germline mutation in the causative mismatch repair (MMR) genes is detected during routine diagnostics. To identify novel causative genes for LS, the present study investigated 77 unrelated, muta
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::6ec338770ac0ae5c1cd02cb89dc9902d
https://doi.org/10.1002/ijc.31725
https://doi.org/10.1002/ijc.31725
Autor:
Masoud Garshasbi, Jurg Ott, Cathy S.J. Fann, Sukanya Horpaopan, Suzanne M. Leal, Mark Lathrop, Yasser Riazalhosseini, Atsuko Imai-Okazaki, Yi Li, Isabelle Schrauwen, Aarushi Sharma, Di Zhang, Yael P. Mosse
Publikováno v:
Human Mutation
Homozygosity mapping is a well‐known technique to identify runs of homozygous variants that are likely to harbor genes responsible for autosomal recessive disease, but a comparable method for autosomal dominant traits has been lacking. We developed
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::000ac77d3ef7a54d342f39e0e517e7cb
https://doi.org/10.1002/humu.23765
https://doi.org/10.1002/humu.23765