(Q36462320)

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Temporal order of RNase IIIb and loss-of-function mutations during development determines phenotype in DICER1 syndrome: a unique variant of the two-hit tumor suppression model

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scholarly article

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Europe PubMed Central

PMC publication ID

14 August 2017

Temporal order of RNase IIIb and loss-of-function mutations during development determines phenotype in DICER1 syndrome: a unique variant of the two-hit tumor suppression model (English)

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Europe PubMed Central

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14 August 2017

DICER1 syndrome

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Avi Rosenberg

8

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Jennifer L. Ivanovich

9

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Jennifer Ivanovich

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14 August 2017

Louis P. Dehner

17

object named as

Louis Dehner

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14 August 2017

Heather Gordish-Dressman

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object named as

Heather Gordish-Dressman

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14 August 2017

author name string

Mark Brenneman

1

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14 August 2017

Amanda Field

2

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14 August 2017

Jiandong Yang

3

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14 August 2017

Gretchen Williams

4

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14 August 2017

Leslie Doros

5

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14 August 2017

Christopher Rossi

6

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14 August 2017

Kris Ann Schultz

7

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14 August 2017

Joyce Turner

10

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14 August 2017

Douglas Stewart

12

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14 August 2017

Weiying Yu

13

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14 August 2017

Anne Harris

14

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14 August 2017

Peter Schoettler

15

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14 August 2017

Paul Goodfellow

16

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14 August 2017

Yoav Messinger

18

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14 August 2017

D Ashley Hill

19

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14 August 2017

publication date

10 July 2015

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14 August 2017

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14 August 2017

4

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14 August 2017

214

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14 August 2017

copyright license

Creative Commons Attribution 4.0 International

10 July 2015

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April 2022 Public Data File from Crossref

copyright status

0 references

Cell- and developmental stage-specific Dicer1 ablation in the lung epithelium models cystic pleuropulmonary blastoma

1 reference

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DICER1-pleuropulmonary blastoma familial tumor predisposition syndrome: a unique constellation of neoplastic conditions

1 reference

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Case 211: pleuropulmonary blastoma in association with cystic nephroma-DICER1 syndrome

1 reference

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Pleuropulmonary blastoma: a report on 350 central pathology-confirmed pleuropulmonary blastoma cases by the International Pleuropulmonary Blastoma Registry.

1 reference

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DICER1: mutations, microRNAs and mechanisms

1 reference

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Nasal chondromesenchymal hamartomas arise secondary to germline and somatic mutations of DICER1 in the pleuropulmonary blastoma tumor predisposition disorder

1 reference

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Parental somatic mosaicism is underrecognized and influences recurrence risk of genomic disorders

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1 reference

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Exome sequencing of pleuropulmonary blastoma reveals frequent biallelic loss of TP53 and two hits in DICER1 resulting in retention of 5p-derived miRNA hairpin loop sequences

1 reference

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Pituitary blastoma: a pathognomonic feature of germ-line DICER1 mutations

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Expanding the phenotype of mutations in DICER1: mosaic missense mutations in the RNase IIIb domain of DICER1 cause GLOW syndrome.

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DICER1 mutations in childhood cystic nephroma and its relationship to DICER1-renal sarcoma

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Enhanced sensitivity for detection of low-level germline mosaic RB1 mutations in sporadic retinoblastoma cases using deep semiconductor sequencing

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DICER1 hotspot mutations in non-epithelial gonadal tumours

1 reference

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Germ-line deletion in DICER1 revealed by a novel MLPA assay using synthetic oligonucleotides

1 reference

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Shining a light on dark sequencing: characterising errors in Ion Torrent PGM data

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SIFT web server: predicting effects of amino acid substitutions on proteins

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Bilateral cystic nephroma with pleuropulmonary blastoma

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30 September 2017

In vivo structure-function analysis of human Dicer reveals directional processing of precursor miRNAs

1 reference

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30 September 2017

Integrative Genomics Viewer (IGV): high-performance genomics data visualization and exploration

1 reference

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DICER1 mutations in embryonal rhabdomyosarcomas from children with and without familial PPB-tumor predisposition syndrome.

1 reference

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Embryonal rhabdomyosarcoma of the uterine cervix: a report of 14 cases and a discussion of its unusual clinicopathological associations.

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DICER1 syndrome: clarifying the diagnosis, clinical features and management implications of a pleiotropic tumour predisposition syndrome

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DICER1 mutations in familial multinodular goiter with and without ovarian Sertoli-Leydig cell tumors

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Ciliary body medulloepithelioma: four cases associated with pleuropulmonary blastoma--a report from the International Pleuropulmonary Blastoma Registry

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DICER1 mutations in familial pleuropulmonary blastoma

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Type I pleuropulmonary blastoma: pathology and biology study of 51 cases from the international pleuropulmonary blastoma registry

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Processing of primary microRNAs by the Microprocessor complex

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High-sensitivity sequencing reveals multi-organ somatic mosaicism causing DICER1 syndrome

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DICER1 syndrome: a new cancer syndrome

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Biallelic DICER1 mutations occur in Wilms tumours.

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Nasal chondromesenchymal hamartoma: an upper respiratory tract analogue of the chest wall mesenchymal hamartoma

1 reference

https://pubmed.ncbi.nlm.nih.gov/26925222

12 December 2020

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inferred from PubMed ID database lookup

Familial cystic nephroma in two siblings with pleuropulmonary blastoma

1 reference

https://pubmed.ncbi.nlm.nih.gov/26925222

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inferred from PubMed ID database lookup

Management of familial cancer: sequencing, surveillance and society

1 reference

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Familial cystic nephroma and pleuropulmonary blastoma

1 reference

https://pubmed.ncbi.nlm.nih.gov/26925222

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inferred from PubMed ID database lookup

Familial cystic nephroma and pleuropulmonary blastoma

1 reference

https://pubmed.ncbi.nlm.nih.gov/26925222

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based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.12688/F1000RESEARCH.6746.1

1 reference

Europe PubMed Central

PMC publication ID

14 August 2017

PMC publication ID

1 reference

Europe PubMed Central

PMC publication ID

14 August 2017

PubMed publication ID

1 reference

Europe PubMed Central

PMC publication ID

14 August 2017

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