Search Our Scientific Publications & Authors

Cir Pediatr 2019 Apr 22;32(2):104-108. Epub 2019 Apr 22.

Servicio de Cirugía Pediátrica. Universidad Nacional de Colombia-Fundación Hospital Pediátrico de la Misericordia (HOMI). Colombia.

Introduction: Endodermal sinus tumor is a malignant germ cell tumor that generally involves the gonads. Extra-gonadal localization out of midline organs is rare. We report a case of endodermal sinus tumor in the thoracoabdominal wall. Read More

Eur J Pediatr Surg 2019 Feb 23;29(1):113-119. Epub 2018 Nov 23.

National Children's Research Centre, Our Lady's Children's Hospital, Crumlin, Dublin, Ireland.

Introduction:  Congenital diaphragmatic hernia (CDH) is assumed to originate from a malformation of the amuscular mesenchymal component of the primordial diaphragm. Mutations in ephrin-B1, a membrane protein that is expressed by mesenchymal cells, have been found in newborn infants with CDH and associated pulmonary hypoplasia (PH), highlighting its important role during diaphragmatic and airway development. Ephrin-B1, -B2, and -B4 are expressed in fetal rat lungs and have been identified as key players during lung branching morphogenesis. Read More

Pediatr Surg Int 2019 Jan 31;35(1):35-40. Epub 2018 Oct 31.

National Children's Research Centre, Our Lady's Children's Hospital, Crumlin, Dublin 12, Ireland.

Purpose: Congenital diaphragmatic hernia (CDH) and associated pulmonary hypoplasia (PH) are thought to be caused by a malformation of the diaphragmatic and pulmonary mesenchyme. Dispatched RND transporter family member 1 (Disp-1) encodes a transmembrane protein that regulates the release of cholesterol and palmitoyl, which is critical for normal diaphragmatic and airway development. Disp-1 is strongly expressed in mesenchymal compartments of fetal diaphragms and lungs. Read More

Nat Cell Biol 2018 11 1;20(11):1315-1325. Epub 2018 Oct 1.

State Key Laboratory of Cell Biology, Shanghai Key Laboratory of Molecular Andrology, CAS Center for Excellence in Molecular Cell Science, Shanghai Institute of Biochemistry and Cell Biology, Chinese Academy of Sciences, University of Chinese Academy of Sciences, Shanghai, China.

CRISPR-mediated base editing can introduce single-nucleotide changes in the DNA of living cells. One intriguing application of base editing is to screen pivotal amino acids for protein function in vivo; however, it has not been achieved. Here, we report an enhanced third-generation base-editing system with extra nuclear localization sequences that can efficiently introduce a homozygous base mutation in embryonic stem cells. Read More

Pediatr Surg Int 2018 Mar 2;34(3):315-321. Epub 2017 Dec 2.

National Children's Research Centre, Our Lady's Children's Hospital, Crumlin, Dublin 12, Ireland.

Purpose: Congenital diaphragmatic hernia (CDH) and associated pulmonary hypoplasia are thought to be caused by a malformation of the underlying diaphragmatic and airway mesenchyme. GATA binding protein 6 (Gata-6) is a zinc finger-containing transcription factor that plays a crucial role during diaphragm and lung development. In the primordial diaphragm, Gata-6 expression is restricted to mesenchymal compartments of the pleuroperitoneal folds (PPFs). Read More