Maternal mutations ofFOXF1cause alveolar capillary dysplasia despite not being imprinted-Reference-Cited by-同舟云学术

Maternal mutations ofFOXF1cause alveolar capillary dysplasia despite not being imprinted

Published:2017-03-24 Issue:6 Volume:38 Page:615-620
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

Alsina Casanova Miguel¹,Monteagudo-Sánchez Ana²,Rodiguez Guerineau Luciana¹,Court Franck³,Gazquez Serrano Isabel¹,Martorell Loreto⁴,Rovira Zurriaga Carlota⁵,Moore Gudrun E.⁶,Ishida Miho⁶,Castañon Montserrat⁷,Moliner Calderon Elisenda⁸,Monk David²,Moreno Hernando Julio¹

Affiliation:

1. Department of Neonatology, Hospital Sant Joan de Déu, University of Barcelona; Barcelona Spain

2. Imprinting and Cancer Group; Cancer Epigenetic and Biology Program; Bellvitge Biomedical Research Institute; Hospital Duran & Reynals; Barcelona Spain

3. Genetics; Reproduction and Development laboratories (GreD); CNRS; UMR6247; Clermont Université; INSERM U931 Clermont-Ferrand France

4. Laboratory of Molecular Genètics, Hospital Sant Joan de Déu, University of Barcelona; Barcelona Spain

5. Department of Pathology, Hospital Sant Joan de Déu, University of Barcelona; Barcelona Spain

6. Genetics and Genomic Medicine Programme; Institute of Child Health, University College London; London, UK

7. Department of Surgery; Hospital Sant Joan de Déu; University of Barcelona; Barcelona Spain

8. Section of Neonatology; Department of Pediatrics; Hospital Sant Pau; Barcelona Spain

Funder

Ministerio de Economía y Competitividad

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/humu.23213/fullpdf

Reference26 articles.

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2. Alveolar capillary dysplasia. Report a case of prolonged life without extracorporeal membrane oxygenation (ECMO) and review of the literature;Al Hathol;Early Human Development,2000

3. A 5-kb imprinting center deletion in a family with Angelman syndrome reduces the shortest region of deletion overlap to 880 bp;Buiting;Human Genetics,1999

4. Genome-wide parent-of-origin DNA methylation analysis reveals the intricacies of human imprinting and suggests a germline methylation-independent mechanism of establishment;Court;Genome Research,2014

5. Lethal lung hypoplasia and vascular defects in mice with conditional Foxf1 overexpression;Dharmadhikari;Biology Open,2016

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2. Diffuse Parenchymal Lung Disease in Early Childhood;Encyclopedia of Respiratory Medicine;2022

3. Genome wide DNA methylation analysis of alveolar capillary dysplasia lung tissue reveals aberrant methylation of genes involved in development including the FOXF1 locus;Clinical Epigenetics;2021-07-29

4. Interstitial lung diseases in the neonatal period;Respiratory Diseases of the Newborn Infant;2021-06

5. A Case of Alveolar Capillary Dysplasia with Misalignment of the Pulmonary Veins (ACD/MPV): The Importance of Early Genetic Testing;Journal of Neonatology;2021-03