Fultang, L. et al. 2019 Macrophage-Derived IL1? and TNF? Regulate Arginine Metabolism in Neuroblastoma Neuroblastoma is the most common childhood solid tumor, yet the prognosis for high-risk disease remains poor. We demonstrate here that arginase 2 (ARG2) drives neuroblastoma cell proliferation via... Cancer Res. - issue: 3 - volume: 79 - pages: 611-624.
Jaouadi, H. et al. 2019 A severe clinical phenotype of Noonan syndrome with neonatal hypertrophic cardiomyopathy in the second case worldwide with RAF1 S259Y neomutation Noonan syndrome and related disorders are a group of clinically and genetically heterogeneous conditions caused by mutations in genes of the RAS/MAPK pathway. Noonan syndrome causes multiple... Genet Res (Camb) - issue: - volume: 101 - pages: e6.
Etchevers, HC. et al. 2019 The diverse neural crest: from embryology to human pathology We review here some of the historical highlights in exploratory studies of the vertebrate embryonic structure known as the neural crest. The study of the molecular properties of the cells that it... - issue: - volume: - pages: .
Jalkh, N. et al. 2019 The added value of WES reanalysis in the field of genetic diagnosis: lessons learned from 200 exomes in the Lebanese population BACKGROUND: The past few decades have witnessed a tremendous development in the field of genetics. The implementation of next generation sequencing (NGS) technologies revolutionized the field of... BMC Med Genomics - issue: 1 - volume: 12 - pages: 11.
Laberthonnière, C. et al. 2019 Bring It to an End: Does Telomeres Size Matter? Telomeres are unique nucleoprotein structures. Found at the edge of each chromosome, their main purpose is to mask DNA ends from the DNA-repair machinery by formation of protective loops. Through life... Cells - issue: 1 - volume: 8 - pages: .
Zaffran, S. et al. 2018 Ectopic expression of Hoxb1 induces cardiac and craniofacial malformations Members of the large family of Hox transcription factors are encoded by genes whose tightly regulated expression in development and in space within different embryonic tissues confer positional... Genesis - issue: 6-7 - volume: 56 - pages: e23221.
Macagno, N. et al. 2018 Reduced H3K27me3 Expression is Common in Nodular Melanomas of Childhood Associated With Congenital Melanocytic Nevi But Not in Proliferative Nodules Am. J. Surg. Pathol. - issue: 5 - volume: 42 - pages: 701-704.
Thomas, AC. et al. 2018 Widespread dynamic and pleiotropic expression of the melanocortin-1-receptor (MC1R) system is conserved across chick, mouse and human embryonic development BACKGROUND: MC1R, a G-protein coupled receptor with high affinity for alpha-melanocyte stimulating hormone (?MSH), modulates pigment production in melanocytes from many species and is associated with... Birth Defects Res - issue: 5 - volume: 110 - pages: 443-455.
Etchevers, HC. et al. 2018 Giant congenital melanocytic nevus with vascular malformation and epidermal cysts associated with a somatic activating mutation in BRAF Giant congenital melanocytic nevi may be symptomatically isolated or syndromic. Associations with capillary malformations are exceptional, and development of epidermal cysts has not been described. A... Pigment Cell Melanoma Res - issue: 3 - volume: 31 - pages: 437-441.
Nair, P. et al. 2018 Contribution of next generation sequencing in pediatric practice in Lebanon. A Study on 213 cases BACKGROUND: According to the Catalogue of Transmission Genetics in Arabs, less than half of diseases reported in Lebanese patients are mapped. In the recent years, Next Generation Sequencing (NGS)... Mol Genet Genomic Med - issue: 6 - volume: 6 - pages: 1041-1052.
Barthélémy, F. et al. 2018 Dysferlin Exon 32 Skipping in Patient Cells Dysferlinopathies are rare genetic diseases affecting muscles due to mutations in DYSF. Exon 32 of DYSF has been shown to be dispensable for dysferlin functions. Here we present a method to visualize... Methods Mol. Biol. - issue: - volume: 1828 - pages: 489-496.
Barthélémy, F. et al. 2018 Muscle Cells Fix Breaches by Orchestrating a Membrane Repair Ballet Skeletal muscle undergoes many micro-membrane lesions at physiological state. Based on their sizes and magnitude these lesions are repaired via different complexes on a specific spatio-temporal... J Neuromuscul Dis - issue: 1 - volume: 5 - pages: 21-28.
Noury, J. et al. 2018 Rigid spine syndrome associated with sensory-motor axonal neuropathy resembling Charcot-Marie-Tooth disease is characteristic of Bcl-2-associated athanogene-3 gene mutations even without cardiac involvement INTRODUCTION: Bcl-2-associated athanogene-3 (BAG3) mutations have been described in rare cases of rapidly progressive myofibrillar myopathies. Symptoms begin in the first decade with axial involvement... Muscle Nerve - issue: 2 - volume: 57 - pages: 330-334.
Zaffran, S. et al. 2018 Ectopic expression of Hoxb1 induces cardiac and craniofacial malformations Members of the large family of Hox transcription factors are encoded by genes whose tightly regulated expression in development and in space within different embryonic tissues confer positional... Genesis - issue: 6-7 - volume: 56 - pages: e23221.
Etchevers, HC. et al. 2018 Giant congenital melanocytic nevus with vascular malformation and epidermal cysts associated with a somatic activating mutation in BRAF Giant congenital melanocytic nevi may be symptomatically isolated or syndromic. Associations with capillary malformations are exceptional, and development of epidermal cysts has not been described. A... Pigment Cell Melanoma Res - issue: 3 - volume: 31 - pages: 437-441.
Fultang, L. et al. 2018 Macrophage-derived IL-1β and TNF-α regulate arginine metabolism in neuroblastoma Neuroblastoma is the most common childhood solid tumor, yet the prognosis for high-risk disease remains poor. We demonstrate here that arginase 2 (ARG2) drives neuroblastoma cell proliferation via... Cancer Res - issue: - volume: - pages: .
De Bono, C. et al. 2018 T-box genes and retinoic acid signaling regulate the segregation of arterial and venous pole progenitor cells in the murine second heart field The arterial and venous poles of the mammalian heart are hotspots of congenital heart defects (CHD) such as those observed in 22q11.2 deletion (or DiGeorge) and Holt–Oram syndromes. These regions of... Hum Mol Genet - issue: 21 - volume: 27 - pages: 3747-3760.
Lescroart, F. et al. 2018 Hox and Tale transcription factors in heart development and disease Hox genes are highly conserved transcription factors with critical functions during development, in particular for patterning the antero-posterior axis of the embryo. Their action is very often... Int J Dev Biol - issue: - volume: 62 - pages: 837-846.
Hubert, F. et al. 2018 FGF10 Signaling in Heart Development, Homeostasis, Disease and Repair Essential muscular organ that provides the whole body with oxygen and nutrients, the heart is the first organ to function during embryonic development. Cardiovascular diseases, including acquired and... Front Genet - issue: - volume: 9 - pages: 599.
Mégarbané, A. et al. 2018 A novel PDE6D mutation in a patient with Joubert syndrome type 22 (JBTS22) Joubert syndrome (JS) is an autosomal or X-linked recessive syndrome principally characterized by hypotonia, ataxia, cognitive impairment, and a specific finding on brain imaging called a "molar tooth... Eur J Med Genet - issue: - volume: - pages: .