Germline thymidylate synthase deficiency impacts nucleotide metabolism and causes dyskeratosis congenita

Author:

Tummala HemanthORCID,Walne Amanda,Buccafusca Roberto,Alnajar Jenna,Szabo Anita,Robinson Peter,McConkie-Rosell Allyn,Wilson Meredith,Crowley Suzanne,Kinsler Veronica,Ewins Anna-Maria,Madapura Pradeepa M.,Patel Manthan,Pontikos Nikolas,Codd Veryan,Vulliamy Tom,Dokal Inderjeet

Funder

UK Research and Innovation

Medical Research Council

Blood Cancer UK

Publisher

Elsevier BV

Subject

Genetics (clinical),Genetics

Reference54 articles.

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3. Poly(A)-specific ribonuclease deficiency impacts telomere biology and causes dyskeratosis congenita;Tummala;J. Clin. Invest.,2015

4. ZCCHC8, the nuclear exosome targeting component, is mutated in familial pulmonary fibrosis and is required for telomerase RNA maturation;Gable;Genes Dev.,2019

5. Loss-of-function mutations in the RNA biogenesis factor NAF1 predispose to pulmonary fibrosis-emphysema;Stanley;Sci. Transl. Med.,2016

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