Bone marrow failure and developmental delay caused by mutations in poly(A)-specific ribonuclease (PARN). (Q47073215)

5 January 2018

title

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

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5 January 2018

19

Stephen W Scherer

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PubMed ID

26342108

5 January 2018

Sethu Madhava Rao Gunja

Sethu Madhava Rao Gunja

2

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Dalila Pinto

Dalila Pinto

17

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Alessandra Renieri

Alessandra Renieri

7

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Yigal Dror

21

Yigal Dror

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5 January 2018

Mary Shago

16

Mary Shago

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5 January 2018

author name string

Santhosh Dhanraj

1

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5 January 2018

Adam P Deveau

3

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5 January 2018

Mikael Nissbeck

4

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5 January 2018

Boonchai Boonyawat

5

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Andrew J Coombs

6

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5 January 2018

Mafalda Mucciolo

8

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5 January 2018

Annabella Marozza

9

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Sabrina Buoni

10

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Lesley Turner

11

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5 January 2018

Hongbing Li

12

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Ameer Jarrar

13

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5 January 2018

Mathura Sabanayagam

14

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5 January 2018

Melanie Kirby

15

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Jason N Berman

18

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5 January 2018

Anders Virtanen

20

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5 January 2018

language of work or name

English

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publication date

4 September 2015

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5 January 2018

Journal of Medical Genetics

published in

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volume

52

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5 January 2018

page(s)

738-748

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5 January 2018

issue

11

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5 January 2018

Non-coding RNAs as regulators of embryogenesis

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Poly(A)-specific ribonuclease (PARN): an allosterically regulated, processive and mRNA cap-interacting deadenylase

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Maturation of mammalian H/ACA box snoRNAs: PAPD5-dependent adenylation and PARN-dependent trimming

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The transcription factor associated Ccr4 and Caf1 proteins are components of the major cytoplasmic mRNA deadenylase in Saccharomyces cerevisiae

21 January 2018

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21 January 2018

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PAN3 encodes a subunit of the Pab1p-dependent poly(A) nuclease in Saccharomyces cerevisiae

21 January 2018

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A 54-kDa fragment of the Poly(A)-specific ribonuclease is an oligomeric, processive, and cap-interacting Poly(A)-specific 3' exonuclease

21 January 2018

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The mRNA cap structure stimulates rate of poly(A) removal and amplifies processivity of degradation

21 January 2018

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Poly(A)-specific ribonuclease mediates 3'-end trimming of Argonaute2-cleaved precursor microRNAs

21 January 2018

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Modulation of poly(A)-specific ribonuclease (PARN): current knowledge and perspectives

21 January 2018

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The PARN deadenylase targets a discrete set of mRNAs for decay and regulates cell motility in mouse myoblasts

21 January 2018

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The Ccr4-Not deadenylase complex constitutes the main poly(A) removal activity in C. elegans.

21 January 2018

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Human RPS19, the gene mutated in Diamond-Blackfan anemia, encodes a ribosomal protein required for the maturation of 40S ribosomal subunits

21 January 2018

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Uncoupling of GTP hydrolysis from eIF6 release on the ribosome causes Shwachman-Diamond syndrome

21 January 2018

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Mouse dyskerin mutations affect accumulation of telomerase RNA and small nucleolar RNA, telomerase activity, and ribosomal RNA processing

21 January 2018

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Essential role for the SMN complex in the specificity of snRNP assembly

21 January 2018

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Prader-Willi phenotype caused by paternal deficiency for the HBII-85 C/D box small nucleolar RNA cluster

21 January 2018

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Defective mitochondrial mRNA maturation is associated with spastic ataxia

21 January 2018

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Targeted disruption of Zfp36l2, encoding a CCCH tandem zinc finger RNA-binding protein, results in defective hematopoiesis

21 January 2018

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Genetic analysis of inherited bone marrow failure syndromes from one prospective, comprehensive and population-based cohort and identification of novel mutations.

21 January 2018

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Comprehensive assessment of array-based platforms and calling algorithms for detection of copy number variants

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21 January 2018

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Structural basis of m(7)GpppG binding to poly(A)-specific ribonuclease

21 January 2018

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Recognition of adenosine residues by the active site of poly(A)-specific ribonuclease

21 January 2018

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21 January 2018

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Collapse of telomere homeostasis in hematopoietic cells caused by heterozygous mutations in telomerase genes

21 January 2018

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NUP98-HOXA9-transgenic zebrafish develop a myeloproliferative neoplasm and provide new insight into mechanisms of myeloid leukaemogenesis

21 January 2018

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Identification of the active site of poly(A)-specific ribonuclease by site-directed mutagenesis and Fe(2+)-mediated cleavage

21 January 2018

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Site-specific pseudouridine formation in preribosomal RNA is guided by small nucleolar RNAs

21 January 2018

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21 January 2018

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Small RNAs with big implications: new insights into H/ACA snoRNA function and their role in human disease

21 January 2018

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21 January 2018

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21 January 2018

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Ribosomal and hematopoietic defects in induced pluripotent stem cells derived from Diamond Blackfan anemia patients.

21 January 2018

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Impaired ribosomal subunit association in Shwachman-Diamond syndrome

21 January 2018

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Dyskeratosis congenita mutations in the H/ACA domain of human telomerase RNA affect its assembly into a pre-RNP

21 January 2018

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Very short telomere length by flow fluorescence in situ hybridization identifies patients with dyskeratosis congenita

21 January 2018

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Depletion of poly(A)-specific ribonuclease (PARN) inhibits proliferation of human gastric cancer cells by blocking cell cycle progression.

21 January 2018

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Poly(A)-specific ribonuclease deficiency impacts telomere biology and causes dyskeratosis congenita

21 January 2018

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Exome sequencing links mutations in PARN and RTEL1 with familial pulmonary fibrosis and telomere shortening

21 January 2018

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10.1136/JMEDGENET-2015-103292

21 January 2018

Identifiers

DOI

1 reference

5 January 2018

PubMed ID

26342108

1 reference

5 January 2018