Detection and Analysis of 12 Suspected Amelogenin Allelic Loss Cases

Autor: BI Jie, CHANG Jing-jing, YU Chun-ying

Publikováno v: Fayixue Zazhi, Vol 34, Iss 4, Pp 396-400 (2018)

Objective To observe and analyse the Amelogenin allelic loss in parent-child identification cases, and to explore the type and mechanism of Amelogenin allelic loss as well as its influence on gender identification and solutions. Methods After the det

Externí odkaz: https://doaj.org/article/c97bd870e6cd4dcc8608d404fb7fcd7f

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Consequences of Chromosome Loss

Autor: Narendra Kumar Chunduri, Karen Barthel, Zuzana Storchova

Publikováno v: Cells. 11(9)

Aneuploidy is a cellular state with an unbalanced chromosome number that deviates from the usual euploid status. During evolution, elaborate cellular mechanisms have evolved to maintain the correct chromosome content over generations. The rare errors

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b877d4845f92c987f6237bcf58bb3cc6
https://doi.org/10.3390/cells11091530

Mono-allelic loss of YTHDF3 and neurodevelopmental disorder:clinical features of four individuals with 8q12.3 deletions

Autor: Uffe Birk Jensen, Tiffany Busa, Simon Holden, Thorkild Terkelsen, Niels Ove Illum, Christina R. Fagerberg, Chantal Missirian, Kate Chandler, Charlotte Brasch-Andersen

Publikováno v: Terkelsen, T, Brasch-Andersen, C, Illum, N, Busa, T, Missirian, C, Chandler, K, Holden, S T, Jensen, U B & Fagerberg, C R 2022, ' Mono-allelic loss of YTHDF3 and neurodevelopmental disorder : clinical features of four individuals with 8q12.3 deletions ', Clinical Genetics, vol. 101, no. 2, pp. 208-213 . https://doi.org/10.1111/cge.14083

The YTH domain family member 3 gene (YTHDF3) encodes a reader of the abundant N6-methyladenosine (m6A) modification of eukaryotic mRNA, which plays an essential role in regulating mRNA stability and is necessary to achieve normal development of the c

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bcfd694b1b413e6ad4147398b027c8ee
https://pure.au.dk/portal/da/publications/monoallelic-loss-of-ythdf3-and-neurodevelopmental-disorder(203b4b52-de15-4c1c-87d1-c237ad111231).html

Author response for 'Mono‐allelic loss of YTHDF3 and neurodevelopmental disorder: clinical features of four individuals with 8q12.3 deletions'

Autor: Uffe Birk Jensen, Thorkild Terkelsen, Chantal Missirian, Simon Holden, Tiffany Busa, Christina R. Fagerberg, Niels Ove Illum, Charlotte Brasch-Andersen, Kate Chandler

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::a993f60bc599fb2beaef3072092f57c1
https://doi.org/10.1111/cge.14083/v2/response1