Zobrazeno 1 - 4
of 4
pro vyhledávání: '"Claudia M. Gebert"'
Autor:
Ki-Sun Park, Beenish Rahat, Hyung Chul Lee, Zu-Xi Yu, Jacob Noeker, Apratim Mitra, Connor M Kean, Russell H Knutsen, Danielle Springer, Claudia M Gebert, Beth A Kozel, Karl Pfeifer
Publikováno v:
eLife, Vol 10 (2021)
Maternal loss of imprinting (LOI) at the H19/IGF2 locus results in biallelic IGF2 and reduced H19 expression and is associated with Beckwith–-Wiedemann syndrome (BWS). We use mouse models for LOI to understand the relative importance of Igf2 and H1
Externí odkaz:
https://doaj.org/article/9585b4d7825b4eb19926c26cb2be1f3c
Autor:
Connor M. Kean, Christopher J. Tracy, Apratim Mitra, Beenish Rahat, Matthew T. Van Winkle, Claudia M. Gebert, Jacob A. Noeker, Anne L. Calof, Arthur D. Lander, Judith A. Kassis, Karl Pfeifer
Publikováno v:
Science Advances. 8
Cohesin rings interact with DNA and modulate the expression of thousands of genes. NIPBL loads cohesin onto chromosomes, and WAPL takes it off. Haploinsufficiency for NIPBL causes a developmental disorder, Cornelia de Lange syndrome (CdLS), that is m
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::1b293d8a6b083eb1a83207657f877d9f
https://doi.org/10.1126/sciadv.add4136
https://doi.org/10.1126/sciadv.add4136
Autor:
Connor M, Kean, Christopher J, Tracy, Apratim, Mitra, Beenish, Rahat, Matthew T, Van Winkle, Claudia M, Gebert, Jacob A, Noeker, Anne L, Calof, Arthur D, Lander, Judith A, Kassis, Karl, Pfeifer
Publikováno v:
Science advances. 8(48)
Cohesin rings interact with DNA and modulate the expression of thousands of genes. NIPBL loads cohesin onto chromosomes, and WAPL takes it off. Haploinsufficiency for
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::58b2d824c0513a624e332c8b105545b8
https://pubmed.ncbi.nlm.nih.gov/36449618
https://pubmed.ncbi.nlm.nih.gov/36449618
Decreasing Wapl dosage partially corrects transcriptome phenotypes in Nipbl-/+ embryonic mouse brain
Autor:
Connor M. Kean, Christopher J. Tracy, Apratim Mitra, Matthew T Van Winkle, Claudia M Gebert, Jacob Noeker, Anne L. Calof, Arthur D. Lander, Judith A. Kassis, Karl Pfeifer
Cohesin rings interact with DNA and modulate expression of thousands of genes. NIPBL loads cohesin onto chromosomes and WAPL takes it off. Heterozygous mutations in NIPBL lead to a developmental disorder called Cornelia de Lange syndrome. Nipbl heter
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::7be961b450c7721577653b98e3e10c09
https://doi.org/10.1101/2022.05.31.493745
https://doi.org/10.1101/2022.05.31.493745
