MAU2 and NIPBL Variants Impair the Heterodimerization of the Cohesin Loader Subunits and Cause Cornelia de Lange Syndrome

I Parenti; F Diab; SR Gil; Eskeatnaf Mulugeta; Valentina Casa; R Berutti; Rutger Brouwer; V Dupe; J Eckhold; E Graf; B Puisac; F Ramos; T Schwarzmayr; Macarena Moronta Gines; Thomas van Staveren; Wilfred van Ijcken; TM Strom; J Pie; E Watrin; FJ Kaiser; Kerstin Wendt

doi:10.1016/j.celrep.2020.107647

MAU2 and NIPBL Variants Impair the Heterodimerization of the Cohesin Loader Subunits and Cause Cornelia de Lange Syndrome

I Parenti
, F Diab
, SR Gil
, Eskeatnaf Mulugeta
, Valentina Casa
, R Berutti
, Rutger Brouwer
, V Dupe
, J Eckhold
, E Graf
, B Puisac
, F Ramos
, T Schwarzmayr
, Macarena Moronta Gines
, Thomas van Staveren
, Wilfred van Ijcken
, TM Strom
, J Pie
, E Watrin
, FJ Kaiser

Kerstin Wendt

Cell biology

Research output: Contribution to journal › Article › Academic

44 Citations (Scopus)

Original language	English
Article number	Unsp 107647
Journal	Cell Reports
Volume	31
Issue number	7
DOIs	https://doi.org/10.1016/j.celrep.2020.107647
Publication status	Published - 2020

Research programs

EMC MGC-02-13-02
EMC OR-01

Access to Document

10.1016/j.celrep.2020.107647

http://hdl.handle.net/1765/127069

Cite this

Parenti, I., Diab, F., Gil, SR., Mulugeta, E., Casa, V., Berutti, R., Brouwer, R., Dupe, V., Eckhold, J., Graf, E., Puisac, B., Ramos, F., Schwarzmayr, T., Moronta Gines, M., van Staveren, T., van Ijcken, W., Strom, TM., Pie, J., Watrin, E., ... Wendt, K. (2020). MAU2 and NIPBL Variants Impair the Heterodimerization of the Cohesin Loader Subunits and Cause Cornelia de Lange Syndrome. Cell Reports, 31(7), Article Unsp 107647. https://doi.org/10.1016/j.celrep.2020.107647

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author = "I Parenti and F Diab and SR Gil and Eskeatnaf Mulugeta and Valentina Casa and R Berutti and Rutger Brouwer and V Dupe and J Eckhold and E Graf and B Puisac and F Ramos and T Schwarzmayr and \{Moronta Gines\}, Macarena and \{van Staveren\}, Thomas and \{van Ijcken\}, Wilfred and TM Strom and J Pie and E Watrin and FJ Kaiser and Kerstin Wendt",

year = "2020",

doi = "10.1016/j.celrep.2020.107647",

language = "English",

volume = "31",

journal = "Cell Reports",

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Parenti, I, Diab, F, Gil, SR, Mulugeta, E, Casa, V, Berutti, R, Brouwer, R, Dupe, V, Eckhold, J, Graf, E, Puisac, B, Ramos, F, Schwarzmayr, T, Moronta Gines, M, van Staveren, T, van Ijcken, W, Strom, TM, Pie, J, Watrin, E, Kaiser, FJ & Wendt, K 2020, 'MAU2 and NIPBL Variants Impair the Heterodimerization of the Cohesin Loader Subunits and Cause Cornelia de Lange Syndrome', Cell Reports, vol. 31, no. 7, Unsp 107647. https://doi.org/10.1016/j.celrep.2020.107647

TY - JOUR

T1 - MAU2 and NIPBL Variants Impair the Heterodimerization of the Cohesin Loader Subunits and Cause Cornelia de Lange Syndrome

AU - Parenti, I

AU - Diab, F

AU - Gil, SR

AU - Mulugeta, Eskeatnaf

AU - Casa, Valentina

AU - Berutti, R

AU - Brouwer, Rutger

AU - Dupe, V

AU - Eckhold, J

AU - Graf, E

AU - Puisac, B

AU - Ramos, F

AU - Schwarzmayr, T

AU - Moronta Gines, Macarena

AU - van Staveren, Thomas

AU - van Ijcken, Wilfred

AU - Strom, TM

AU - Pie, J

AU - Watrin, E

AU - Kaiser, FJ

AU - Wendt, Kerstin

PY - 2020

Y1 - 2020

U2 - 10.1016/j.celrep.2020.107647

DO - 10.1016/j.celrep.2020.107647

M3 - Article

C2 - 32433956

SN - 2211-1247

VL - 31

JO - Cell Reports

JF - Cell Reports

IS - 7

M1 - Unsp 107647

ER -