Bone marrow failure and developmental delay caused by mutations in poly(A)-specific ribonuclease (PARN).

doi:10.1136/jmedgenet-2015-103292

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Article

Bone marrow failure and developmental delay caused by mutations in poly(A)-specific ribonuclease (PARN).

Journal of medical genetics - 1 Nov 2015

Dhanraj Santhosh, Gunja Sethu Madhava Rao, Deveau Adam P, Nissbeck Mikael, Boonyawat Boonchai, Coombs Andrew J, Renieri Alessandra, Mucciolo Mafalda, Marozza Annabella, Buoni Sabrina, Turner Lesley, Li Hongbing, Jarrar Ameer, Sabanayagam Mathura, Kirby Melanie, Shago Mary, Pinto Dalila, Berman Jason N, Scherer Stephen W, Virtanen Anders, Dror Yigal

Abstract excerpt

BACKGROUND: Deadenylation regulates RNA function and fate. Poly(A)-specific ribonuclease (PARN) is a deadenylase that processes mRNAs and non-coding RNA. Little is known about the biological significance of germline mutations in PARN. METHODS: We identified mutations in PARN in patients with haematological and neurological manifestations. Genomic, biochemical and knockdown experiments in human marrow cells and in...

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PMID: 26342108
DOI: 10.1136/jmedgenet-2015-103292

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PARN

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