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

Journal of Medical Genetics

Sep 6, 2015

Santhosh DhanrajYigal Dror

Abstract

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. We identified mutations in PARN in patients with haematological ...read more

Mentioned in this Paper

PARN gene
PARN protein, human
Parn-A protein, Xenopus
Germ-Line Mutation
Deletion Mutation
Childhood Ataxia With Central Nervous System Hypomyelinization
Myelin
Dyskeratosis Congenita
Neurologic Manifestations
Pancytopenia
11
41
1
Paper Details
References
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  • Citations24
12345
  • References44
  • Citations24
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Bone marrow failure and developmental delay caused by mutations in poly(A)-specific ribonuclease (PARN)

Journal of Medical Genetics

Sep 6, 2015

Santhosh DhanrajYigal Dror

PMID: 26342108

DOI: 10.1136/jmedgenet-2015-103292

Abstract

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. We identified mutations in PARN in patients with haematological ...read more

Mentioned in this Paper

PARN gene
PARN protein, human
Parn-A protein, Xenopus
Germ-Line Mutation
Deletion Mutation
Childhood Ataxia With Central Nervous System Hypomyelinization
Myelin
Dyskeratosis Congenita
Neurologic Manifestations
Pancytopenia
11
41
1

Similar Papers Found In These Feeds

Related Papers

Paper Details
References
  • References44
  • Citations24
12345
  • References44
  • Citations24
123
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