Insights into Mutation Effect in Three Poikiloderma with Neutropenia Patients by Transcript Analysis and Disease Evolution of Reported Patients with the Same Pathogenic Variants (Q56382235)

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scientific article published on 16 May 2018

Language	Label	Description	Also known as
English	Insights into Mutation Effect in Three Poikiloderma with Neutropenia Patients by Transcript Analysis and Disease Evolution of Reported Patients with the Same Pathogenic Variants	scientific article published on 16 May 2018

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scholarly article

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29770900%20AND%20SRC:MED&resulttype=core&format=json

26 March 2020

Insights into Mutation Effect in Three Poikiloderma with Neutropenia Patients by Transcript Analysis and Disease Evolution of Reported Patients with the Same Pathogenic Variants (English)

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29770900%20AND%20SRC:MED&resulttype=core&format=json

26 March 2020

poikiloderma with neutropenia

1 reference

based on heuristic

inferred from title

Elisa A Colombo

1

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29770900%20AND%20SRC:MED&resulttype=core&format=json

26 March 2020

author name string

Nursel H Elcioglu

2

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29770900%20AND%20SRC:MED&resulttype=core&format=json

26 March 2020

Claudio Graziano

3

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29770900%20AND%20SRC:MED&resulttype=core&format=json

26 March 2020

Pamela Farinelli

4

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29770900%20AND%20SRC:MED&resulttype=core&format=json

26 March 2020

Elisabetta Di Fede

5

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29770900%20AND%20SRC:MED&resulttype=core&format=json

26 March 2020

Iria Neri

6

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29770900%20AND%20SRC:MED&resulttype=core&format=json

26 March 2020

Elena Facchini

7

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29770900%20AND%20SRC:MED&resulttype=core&format=json

26 March 2020

Mariangela Greco

8

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29770900%20AND%20SRC:MED&resulttype=core&format=json

26 March 2020

Cristina Gervasini

9

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29770900%20AND%20SRC:MED&resulttype=core&format=json

26 March 2020

Lidia Larizza

10

1 reference

Europe PubMed Central

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26 March 2020

language of work or name

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publication date

16 May 2018

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Europe PubMed Central

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26 March 2020

Journal of Clinical Immunology

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29770900%20AND%20SRC:MED&resulttype=core&format=json

26 March 2020

38

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29770900%20AND%20SRC:MED&resulttype=core&format=json

26 March 2020

4

1 reference

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29770900%20AND%20SRC:MED&resulttype=core&format=json

26 March 2020

494-502

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29770900%20AND%20SRC:MED&resulttype=core&format=json

26 March 2020

Haematological disease in siblings with Rothmund-Thomson syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/29770900

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Southwestern Athabaskan (Navajo and Apache) genetic diseases

1 reference

https://pubmed.ncbi.nlm.nih.gov/29770900

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Rothmund-Thomson syndrome (Thomson-type) and myelodysplasia.

1 reference

https://pubmed.ncbi.nlm.nih.gov/29770900

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Poikiloderma with neutropenia, Clericuzio type, in a family from Morocco

1 reference

https://pubmed.ncbi.nlm.nih.gov/29770900

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Targeted next-generation sequencing appoints c16orf57 as clericuzio-type poikiloderma with neutropenia gene

1 reference

https://pubmed.ncbi.nlm.nih.gov/29770900

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Poikiloderma with neutropenia: a novel C16orf57 mutation and clinical diagnostic criteria

1 reference

https://pubmed.ncbi.nlm.nih.gov/29770900

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Clericuzio-type poikiloderma with neutropenia syndrome in three sibs with mutations in the C16orf57 gene: delineation of the phenotype

1 reference

https://pubmed.ncbi.nlm.nih.gov/29770900

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mutations in C16orf57 and normal-length telomeres unify a subset of patients with dyskeratosis congenita, poikiloderma with neutropenia and Rothmund–Thomson syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/29770900

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identification of a novel C16orf57 mutation in Athabaskan patients with Poikiloderma with Neutropenia

1 reference

https://pubmed.ncbi.nlm.nih.gov/29770900

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Systematic search for neutropenia should be part of the first screening in patients with poikiloderma.

1 reference

https://pubmed.ncbi.nlm.nih.gov/29770900

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Novel C16orf57 mutations in patients with Poikiloderma with Neutropenia: bioinformatic analysis of the protein and predicted effects of all reported mutations

1 reference

https://pubmed.ncbi.nlm.nih.gov/29770900

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

C16orf57, a gene mutated in poikiloderma with neutropenia, encodes a putative phosphodiesterase responsible for the U6 snRNA 3' end modification

1 reference

https://pubmed.ncbi.nlm.nih.gov/29770900

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Squamous cell carcinoma in a child with Clericuzio-type poikiloderma with neutropenia

1 reference

https://pubmed.ncbi.nlm.nih.gov/29770900

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mpn1, mutated in poikiloderma with neutropenia protein 1, is a conserved 3'-to-5' RNA exonuclease processing U6 small nuclear RNA.

1 reference

https://pubmed.ncbi.nlm.nih.gov/29770900

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Aberrant 3' oligoadenylation of spliceosomal U6 small nuclear RNA in poikiloderma with neutropenia

1 reference

https://pubmed.ncbi.nlm.nih.gov/29770900

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Poikiloderma with neutropenia: genotype-ethnic origin correlation, expanding phenotype and literature review

1 reference

https://pubmed.ncbi.nlm.nih.gov/29770900

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Juvenile Idiopathic Inflammatory Myopathy in a Patient With Dyskeratosis Congenita Due to C16orf57 Mutation

1 reference

https://pubmed.ncbi.nlm.nih.gov/29770900

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Clericuzio-type Poikiloderma with Neutropenia Syndrome in a Turkish Family: a Three Report of Siblings with Mutation in the C16orf57 gene

1 reference

https://pubmed.ncbi.nlm.nih.gov/29770900

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Marked overlap of four genetic syndromes with dyskeratosis congenita confounds clinical diagnosis

1 reference

https://pubmed.ncbi.nlm.nih.gov/29770900

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The Role of Genetic Testing in Hereditary Poikiloderma: A Case Report

1 reference

https://pubmed.ncbi.nlm.nih.gov/29770900

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Usb1 controls U6 snRNP assembly through evolutionarily divergent cyclic phosphodiesterase activities

1 reference

https://pubmed.ncbi.nlm.nih.gov/29770900

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1007/S10875-018-0508-9

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29770900%20AND%20SRC:MED&resulttype=core&format=json

26 March 2020

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29770900%20AND%20SRC:MED&resulttype=core&format=json

26 March 2020

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