Novel FOXF1 deep intronic deletion causes lethal lung developmental disorder, alveolar capillary dysplasia with misalignment of pulmonary veins (Q42145574)

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scientific article published on 4 September 2013

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English	Novel FOXF1 deep intronic deletion causes lethal lung developmental disorder, alveolar capillary dysplasia with misalignment of pulmonary veins	scientific article published on 4 September 2013

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scholarly article

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Europe PubMed Central

PMC publication ID

4123314

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17 October 2017

title

Novel FOXF1 deep intronic deletion causes lethal lung developmental disorder, alveolar capillary dysplasia with misalignment of pulmonary veins (English)

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Europe PubMed Central

PMC publication ID

4123314

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17 October 2017

main subject

developmental disorder

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based on heuristic

inferred from title

alveolar capillary dysplasia

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inferred from title

author

Pawel Stankiewicz

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7

object named as

Paweł Stankiewicz

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Europe PubMed Central

PMC publication ID

4123314

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17 October 2017

author name string

Przemyslaw Szafranski

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1

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Europe PubMed Central

PMC publication ID

4123314

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17 October 2017

Yaping Yang

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2

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Europe PubMed Central

PMC publication ID

4123314

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17 October 2017

Melissa U Nelson

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3

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Europe PubMed Central

PMC publication ID

4123314

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17 October 2017

Matthew J Bizzarro

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4

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Europe PubMed Central

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4123314

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17 October 2017

Raffaella A Morotti

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5

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4123314

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17 October 2017

Claire Langston

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6

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Europe PubMed Central

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4123314

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17 October 2017

publication date

4 September 2013

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Europe PubMed Central

PMC publication ID

4123314

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17 October 2017

published in

Human Mutation

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Europe PubMed Central

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4123314

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17 October 2017

volume

34

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Europe PubMed Central

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4123314

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17 October 2017

issue

11

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Europe PubMed Central

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4123314

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17 October 2017

page(s)

1467-1471

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4123314

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cites work

Novel FOXF1 mutations in sporadic and familial cases of alveolar capillary dysplasia with misaligned pulmonary veins imply a role for its DNA binding domain.

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4123314

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29 May 2018

Analysis of intron sequence features associated with transcriptional regulation in human genes

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29 May 2018

Small noncoding differentially methylated copy-number variants, including lncRNA genes, cause a lethal lung developmental disorder

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PubMed Central

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29 May 2018

ABCC6 expression is regulated by CCAAT/enhancer-binding protein activating a primate-specific sequence located in the first intron of the gene

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PubMed Central

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29 May 2018

SLC22A5/OCTN2 expression in breast cancer is induced by estrogen via a novel intronic estrogen-response element (ERE).

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PubMed Central

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29 May 2018

CTCF-mediated functional chromatin interactome in pluripotent cells

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29 May 2018

Alveolar capillary dysplasia

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PubMed Central

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29 May 2018

Identification of a deep intronic mutation in the COL6A2 gene by a novel custom oligonucleotide CGH array designed to explore allelic and genetic heterogeneity in collagen VI-related myopathies

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29 May 2018

Many human large intergenic noncoding RNAs associate with chromatin-modifying complexes and affect gene expression

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29 May 2018

CTCF: master weaver of the genome

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PubMed Central

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29 May 2018

Genomic and genic deletions of the FOX gene cluster on 16q24.1 and inactivating mutations of FOXF1 cause alveolar capillary dysplasia and other malformations

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PubMed Central

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29 May 2018

Architectural roles of multiple chromatin insulators at the human apolipoprotein gene cluster

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29 May 2018

Intron-size constraint as a mutational mechanism in Rothmund-Thomson syndrome

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29 May 2018

Defects in pulmonary vasculature and perinatal lung hemorrhage in mice heterozygous null for the Forkhead Box f1 transcription factor

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29 May 2018

Splicing mutations of the polycystic kidney disease 1 (PKD1) gene induced by intronic deletion

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PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/23943206

retrieved

12 December 2020

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Pure intronic rearrangements leading to aberrant pseudoexon inclusion in dystrophinopathy: a new class of mutations?

1 reference

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PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/23943206

retrieved

12 December 2020

based on heuristic

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Identifiers

DOI

10.1002/HUMU.22395

1 reference

stated in

Europe PubMed Central

PMC publication ID

4123314

retrieved

17 October 2017

PMC publication ID

4123314

1 reference

stated in

Europe PubMed Central

PMC publication ID

4123314

retrieved

17 October 2017

PubMed publication ID

23943206

1 reference

stated in

Europe PubMed Central

PMC publication ID

4123314

retrieved

17 October 2017

 

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