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A disease-causing single amino-acid deletion in the coiled-coil domain of RAD50 impairs MRE11 complex functions in yeast and humans

Archive ouverte | Chansel-da Cruz, Marie | CCSD

International audience

Characterization of novel mutations in the TEL-patch domain of the telomeric factor TPP1 associated with telomere biology disorders

Archive ouverte | Bertrand, Alexis | CCSD

International audience. Abstract Telomeres are nucleoprotein structures that protect the chromosome ends from degradation and fusion. Telomerase is a ribonucleoprotein complex essential to maintain the length of tel...

Somatic genetic rescue of a germline ribosome assembly defect

Archive ouverte | Tan, Shengjiang | CCSD

International audience. Indirect somatic genetic rescue (SGR) of a germline mutation is thought to be rare in inherited Mendelian disorders. Here, we establish that acquired mutations in the EIF6 gene are a frequent...

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