Zobrazeno 1 - 3
of 3
pro vyhledávání: '"Hans T Björnsson"'
Autor:
Christine W Gao, WanYing Lin, Ryan C Riddle, Sheetal Chopra, Jiyoung Kim, Leandros Boukas, Kasper D Hansen, Hans T Björnsson, Jill A Fahrner
Publikováno v:
PLoS Genetics, Vol 20, Iss 6, p e1011310 (2024)
Growth deficiency is a characteristic feature of both Kabuki syndrome 1 (KS1) and Kabuki syndrome 2 (KS2), Mendelian disorders of the epigenetic machinery with similar phenotypes but distinct genetic etiologies. We previously described skeletal growt
Externí odkaz:
https://doaj.org/article/4bc73b4b5abe410a8220e06884a74d73
Autor:
Teresa Romeo Luperchio, Leandros Boukas, Li Zhang, Genay Pilarowski, Jenny Jiang, Allison Kalinousky, Kasper D Hansen, Hans T Bjornsson
Publikováno v:
eLife, Vol 10 (2021)
Although each Mendelian Disorder of the Epigenetic Machinery (MDEM) has a different causative gene, there are shared disease manifestations. We hypothesize that this phenotypic convergence is a consequence of shared epigenetic alterations. To identif
Externí odkaz:
https://doaj.org/article/d34ba8239b0a4fcaabab3999748b7e88
Publikováno v:
PLoS ONE, Vol 12, Iss 4, p e0170403 (2017)
To compensate for the sex difference in the number of X chromosomes, human females, like human males have only one active X. The other X chromosomes in cells of both sexes are silenced in utero by XIST, the Inactive X Specific Transcript gene, that i
Externí odkaz:
https://doaj.org/article/a4ee12c7cfce42edb476eb5cfec17dbc