Conditional Creation and Rescue of Nipbl-Deficiency in Mice Reveals Multiple Determinants of Risk for Congenital Heart Defects.

Autor: Rosaysela Santos, Shimako Kawauchi, Russell E Jacobs, Martha E Lopez-Burks, Hojae Choi, Jamie Wikenheiser, Benedikt Hallgrimsson, Heather A Jamniczky, Scott E Fraser, Arthur D Lander, Anne L Calof

Publikováno v: PLoS Biology, Vol 14, Iss 9, p e2000197 (2016)

Elucidating the causes of congenital heart defects is made difficult by the complex morphogenesis of the mammalian heart, which takes place early in development, involves contributions from multiple germ layers, and is controlled by many genes. Here,

Externí odkaz: https://doaj.org/article/a35153e1e5d649febbe5a6a1db5ddb10

Nipbl and mediator cooperatively regulate gene expression to control limb development.

Autor: Akihiko Muto, Shingo Ikeda, Martha E Lopez-Burks, Yutaka Kikuchi, Anne L Calof, Arthur D Lander, Thomas F Schilling

Publikováno v: PLoS Genetics, Vol 10, Iss 9, p e1004671 (2014)

Haploinsufficiency for Nipbl, a cohesin loading protein, causes Cornelia de Lange Syndrome (CdLS), the most common "cohesinopathy". It has been proposed that the effects of Nipbl-haploinsufficiency result from disruption of long-range communication b

Externí odkaz: https://doaj.org/article/0cc2707f96b749de85ad05315b12ed65

Multiple organ system defects and transcriptional dysregulation in the Nipbl(+/-) mouse, a model of Cornelia de Lange Syndrome.

Autor: Shimako Kawauchi, Anne L Calof, Rosaysela Santos, Martha E Lopez-Burks, Clint M Young, Michelle P Hoang, Abigail Chua, Taotao Lao, Mark S Lechner, Jeremy A Daniel, Andre Nussenzweig, Leonard Kitzes, Kyoko Yokomori, Benedikt Hallgrimsson, Arthur D Lander

Publikováno v: PLoS Genetics, Vol 5, Iss 9, p e1000650 (2009)

Cornelia de Lange Syndrome (CdLS) is a multi-organ system birth defects disorder linked, in at least half of cases, to heterozygous mutations in the NIPBL gene. In animals and fungi, orthologs of NIPBL regulate cohesin, a complex of proteins that is

Externí odkaz: https://doaj.org/article/8dc221766cd049239fd0f865f4826205

Using mouse and zebrafish models to understand the etiology of developmental defects in Cornelia de Lange Syndrome

Autor: Martha E. Lopez-Burks, Shimako Kawauchi, Arthur D. Lander, Rosaysela Santos, Akihiko Muto, Anne L. Calof, Thomas F. Schilling

Publikováno v: American journal of medical genetics. Part C, Seminars in medical genetics, vol 172, iss 2
Kawauchi, S; Santos, R; Muto, A; Lopez-Burks, ME; Schilling, TF; Lander, AD; et al.(2016). Using Mouse and Zebrafish Models to Understand the Etiology of Developmental Defects in Cornelia de Lange Syndrome. AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS, 172(2), 138-145. doi: 10.1002/ajmg.c.31484. UC Irvine: Retrieved from: http://www.escholarship.org/uc/item/1kn4m2w9

Cornelia de Lange Syndrome (CdLS) is a multisystem birth defects disorder that affects every tissue and organ system in the body. Understanding the factors that contribute to the origins, prevalence, and severity of these developmental defects provid

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7c921ee33336111d167909c3ff6cb86a
https://doi.org/10.1002/ajmg.c.31484

Conditional Creation and Rescue of Nipbl-Deficiency in Mice Reveals Multiple Determinants of Risk for Congenital Heart Defects

Autor: Hojae Choi, Scott E. Fraser, Russell E. Jacobs, Arthur D. Lander, Heather A. Jamniczky, Anne L. Calof, Benedikt Hallgrímsson, Jamie Wikenheiser, Shimako Kawauchi, Martha E. Lopez-Burks, Rosaysela Santos

Publikováno v: PLoS Biology, Vol 14, Iss 9, p e2000197 (2016)
PLoS biology, vol 14, iss 9
Santos, R; Kawauchi, S; Jacobs, RE; Lopez-Burks, ME; Choi, H; Wikenheiser, J; et al.(2016). Conditional Creation and Rescue of Nipbl-Deficiency in Mice Reveals Multiple Determinants of Risk for Congenital Heart Defects.. PLoS Biol, 14(9), e2000197. doi: 10.1371/journal.pbio.2000197. UC Irvine: Retrieved from: http://www.escholarship.org/uc/item/50w416g5

Elucidating the causes of congenital heart defects is made difficult by the complex morphogenesis of the mammalian heart, which takes place early in development, involves contributions from multiple germ layers, and is controlled by many genes. Here,

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::070224ce72659ad31bfd1e2062ceebea
http://europepmc.org/articles/PMC5016002?pdf=render