Germline mutations in DIS3L2 cause the Perlman syndrome of overgrowth and Wilms tumor susceptibility (Q24304444)

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22 January 2020

title

Germline mutations in DIS3L2 cause the Perlman syndrome of overgrowth and Wilms tumor susceptibility (English)

1 reference

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DIS3 like 3'-5' exoribonuclease 2

22 January 2020

main subject

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mitotic sister chromatid separation

GOA release 2020-03-11

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DIS3 like 3'-5' exoribonuclease 2

GOA release 2020-03-11

1 reference

GOA release 2020-03-11

1 reference

1 reference

4

1 reference

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22 January 2020

Eamonn R Maher

21

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22 January 2020

15

John M Opitz

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22 January 2020

author name string

Dewi Astuti

1

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22 January 2020

Mark R Morris

2

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22 January 2020

Wendy N Cooper

3

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22 January 2020

Naomi C Wake

5

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22 January 2020

Graham A Fews

6

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22 January 2020

Harmeet Gill

7

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22 January 2020

Dean Gentle

8

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22 January 2020

Salwati Shuib

9

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22 January 2020

Christopher J Ricketts

10

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22 January 2020

Trevor Cole

11

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22 January 2020

Anthonie J van Essen

12

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22 January 2020

Richard A van Lingen

13

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22 January 2020

Giovanni Neri

14

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22 January 2020

Patrick Rump

16

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22 January 2020

Irene Stolte-Dijkstra

17

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22 January 2020

Ferenc Müller

18

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22 January 2020

Ger J M Pruijn

19

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22 January 2020

Farida Latif

20

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22 January 2020

language of work or name

English

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publication date

5 February 2012

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22 January 2020

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22 January 2020

volume

44

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22 January 2020

issue

3

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22 January 2020

page(s)

277-284

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Dis3-like 1: a novel exoribonuclease associated with the human exosome

22 January 2020

cites work

1 reference

The human core exosome interacts with differentially localized processive RNases: hDIS3 and hDIS3L

20 April 2017

1 reference

Encoding multiple unnatural amino acids via evolution of a quadruplet-decoding ribosome

20 April 2017

1 reference

Human Mps1 protein kinase is required for centrosome duplication and normal mitotic progression

20 April 2017

1 reference

Identification of a vertebrate sister-chromatid separation inhibitor involved in transformation and tumorigenesis

20 April 2017

1 reference

A single subunit, Dis3, is essentially responsible for yeast exosome core activity

20 April 2017

1 reference

The exosome subunit Rrp44 plays a direct role in RNA substrate recognition

20 April 2017

1 reference

Endonucleolytic RNA cleavage by a eukaryotic exosome

20 April 2017

1 reference

The exosome contains domains with specific endoribonuclease, exoribonuclease and cytoplasmic mRNA decay activities.

20 April 2017

1 reference

Wilms' tumor and gonadal dysgenesis in a child with the 2q37.1 deletion syndrome

20 April 2017

1 reference

MPP6 is an exosome-associated RNA-binding protein involved in 5.8S rRNA maturation

20 April 2017

1 reference

Risk of tumorigenesis in overgrowth syndromes: A comprehensive review

20 April 2017

1 reference

Perlman syndrome: report, prenatal findings and review.

21 January 2018

1 reference

Genomic Imprinting Syndromes and Cancer

21 January 2018

1 reference

Metanephric hamartomas and nephroblastomatosis in siblings

21 January 2018

1 reference

Renal hamartomas and nephroblastomatosis with fetal gigantism: a familial syndrome

21 January 2018

1 reference

Syndrome of fetal gigantism, renal hamartomas, and nephroblastomatosis with Wilms' tumor

21 January 2018

1 reference

The Perlman syndrome: Familial renal dysplasia with Wilms tumor, fetal gigantism and multiple congenital anomalies

21 January 2018

1 reference

Perlman syndrome: familial renal dysplasia with Wilms tumor, fetal gigantism, and multiple congenital anomalies.

21 January 2018

1 reference

CDC25 phosphatases in cancer cells: key players? Good targets?

21 January 2018

1 reference

Correcting aberrant kinetochore microtubule attachments: an Aurora B-centric view

21 January 2018

1 reference

Ras promotes p21(Waf1/Cip1) protein stability via a cyclin D1-imposed block in proteasome-mediated degradation

21 January 2018

1 reference

Human dis3p, which binds to either GTP- or GDP-Ran, complements Saccharomyces cerevisiae dis3

21 January 2018

1 reference

Mechanisms of RNA degradation by the eukaryotic exosome

21 January 2018

1 reference

Global role for polyadenylation-assisted nuclear RNA degradation in posttranscriptional gene silencing

21 January 2018

1 reference

Genome-wide analysis reveals distinct substrate specificities of Rrp6, Dis3, and core exosome subunits

21 January 2018

1 reference

Overexpression of the C-type natriuretic peptide (CNP) is associated with overgrowth and bone anomalies in an individual with balanced t(2;7) translocation.

21 January 2018

1 reference

Meta-analysis of Dense Genecentric Association Studies Reveals Common and Uncommon Variants Associated with Height

21 January 2018

1 reference

Zebrafish Kidney Development

21 January 2018

1 reference

Nephrocystin-4 is required for pronephric duct-dependent cloaca formation in zebrafish

21 January 2018

1 reference

Loss of heterozygosity at 2q37 in sporadic Wilms' tumor: putative role for miR-562.

21 January 2018

1 reference

Constitutional aneuploidy and cancer predisposition caused by biallelic mutations in BUB1B.

21 January 2018

1 reference

Homozygous BUB1B mutation and susceptibility to gastrointestinal neoplasia.

21 January 2018

1 reference

21 January 2018

1 reference

The Saccharomyces cerevisiae small GTPase, Gsp1p/Ran, is involved in 3' processing of 7S-to-5.8S rRNA and in degradation of the excised 5'-A0 fragment of 35S pre-rRNA, both of which are carried out by the exosome

21 January 2018

1 reference

12 December 2020

Phenotypic profiling of the human genome by time-lapse microscopy reveals cell division genes

1 reference

12 December 2020

Cold-sensitive and caffeine-supersensitive mutants of the Schizosaccharomyces pombe dis genes implicated in sister chromatid separation during mitosis

1 reference

12 December 2020

Dis3, implicated in mitotic control, binds directly to Ran and enhances the GEF activity of RCC1

1 reference

12 December 2020

Expanding the spectrum of the Perlman syndrome

1 reference

12 December 2020

Primer3 on the WWW for general users and for biologist programmers

1 reference

12 December 2020

A cluster of translocation breakpoints in 2q37 is associated with overexpression of NPPC in patients with a similar overgrowth phenotype

1 reference

12 December 2020

Clinical phenotype associated with terminal 2q37 deletion.

1 reference

12 December 2020

Perlman syndrome: four additional cases and review

1 reference

12 December 2020

The Perlman familial nephroblastomatosis syndrome

1 reference

12 December 2020

ERRATUM: Meta-analysis of Dense Genecentric Association Studies Reveals Common and Uncommon Variants Associated with Height

1 reference

12 December 2020

Identifiers

DOI

10.1038/NG.1071

2 references

Consolidated OpenCitations Corpus – April 2017

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Dimensions Publication ID

22 January 2020

1010819067

0 references

1 reference

Consolidated OpenCitations Corpus – April 2017

2 references

Consolidated OpenCitations Corpus – April 2017

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