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Summary Literature (3)
Literature for DOID 2732: Rothmund-Thomson syndrome


Xenbase Articles :
( Denotes literature images)
Initiation of DNA replication requires the RECQL4 protein mutated in Rothmund-Thomson syndrome., Sangrithi MN,Bernal JA,Madine M,Philpott A,Lee J,Lee J,Dunphy WG,Venkitaraman AR, Cell. June 17, 2005; 121(6):1097-4172.
N-terminal region of RecQ4 inhibits non-homologous end joining and chromatin association of the Ku heterodimer in Xenopus egg extracts., Tsuyama T,Fujita K,Sasaki R,Hamanaka S,Sotoyama Y,Ogawa A,Kusuzaki K,Azuma Y,Tada S, Gene. June 30, 2021; 787:1879-0038.
Unilateral loss of recql4 function in Xenopus laevis tadpoles leads to ipsilateral ablation of the forelimb, hypoplastic Meckel's cartilage and vascular defects., Beck CW,Reily-Bell M,Bicknell LS, G3 (Bethesda). August 16, 2025; :2160-1836.