by Bas T Röttgering  and Karoly Szuhai

Received: 14 May 2019;  Published: 14 October 2019;  doi: 10.21926/obm.genet.1904096

Insulin-like growth factor 2 (IGF2) is a strong mitogenic peptide with an imprinted gene that is primarily involved in fetal development. It is highly expressed in the fetus where it is involved in fetal growth and tissue differentiation. However, postnatally, the expression of IGF2 decreases despite higher expression levels in the blood as compared with that of IGF1. In adults, the physiological function of IGF2 is poorly understood; however, the possibility of a metabolic function exists. Although the expression [...]

by Konstantinos Magganas  , Sophia Delicou  , Aikaterini Xydaki  and Zoi Pallantza

Received: 19 May 2019;  Published: 17 September 2019;  doi: 10.21926/obm.genet.1903095

Thalassemia syndromes are a group of hemoglobinopathies characterized by gene defects that disrupt normal hemoglobin production. Thalassemia intermedia (TI) is referred to as a group of disorders with a less severe form of the disease compared to thalassemia major. We present a case of a 60-year-old woman who was referred to a hematologist for chronic anemia and splenomegaly.

by Johanne Traeger-Synodinos  and François Rousseau

Received: 06 September 2019;  Published: 11 September 2019;  doi: 10.21926/obm.genet.1903094

We present here the content and articles of this special issue on genetic screening, putting them in perspective with the field and between themselves.

by Damien Bouvier  and Yves Giguère

Received: 01 July 2019;  Published: 06 September 2019;  doi: 10.21926/obm.genet.1903093

Newborn screening (NBS) for inborn errors of metabolism (IEM) was introduced more than 50 years ago with the testing of phenylketonuria (PKU) using blood spots deposited on a filter paper after heel prick. NBS aims to identify early after birth inherited disorders for which clinical management and pre-symptomatic treatment will significantly decrease morbidity and mortality. While NBS for a few other disorders was implemented in some specific jurisdictions over the following decades, it is with the introduction of [...]

by Caymen M. Novak  , Eric N. Horst  , Shreya Raghavan  and Geeta Mehta

Received: 17 June 2019;  Published: 06 September 2019;  doi: 10.21926/obm.genet.1903092

Background: Invasive breast cancer affects 1 in 8 women in the United States and causes one of the highest cancer mortality rates for women. Cyclooxygenase-2 (COX-2), a central enzyme in prostaglandin biosynthesis, is implicated in breast cancer initiation, progression, invasion, and metastasis, and has been linked to the mechanotransduction of breast cancers. However, it is not currently known if shear stress mediated mechanotransduction is affected by COX-2. Therefore, in this report, we hypothesized that COX-2 m [...]

by Hisayuki Komaki  and Tomohiko Tamura

Received: 19 April 2019;  Published: 23 August 2019;  doi: 10.21926/obm.genet.1903091

Background: Streptomyces avermitilis is an actinomycete that produces avermectins. The complete genome sequence of S. avermitilis K139 was determined in 2003. In our previous study, we revealed that S. avermitilis NBRC 14893T harbors two extra secondary metabolite-biosynthetic gene clusters (smBGCs), com and ptx, which are not present in strain K139. Methods: Whole-genome sequencing for S. avermitilis NBRC 14893T and ATCC 31267T was carried out by the SMRT DNA sequencing technology to determine the genomic loci enc [...]

by Tahereh Fatemian  and Ezharul Hoque Chowdhury

Received: 29 March 2019;  Published: 15 August 2019;  doi: 10.21926/obm.genet.1903090

Introduction of biocompatible ingredients into nano-material formulations has been studied as a strategy for the enhancement of the pharmacokinetics as well as pharmacodynamics of the final product. With the aim of enhancing drug loading and the ultimate efficacy, incorporation of Bovine Serum Albumin (BSA) into carbonate apatite (CA) nanoparticles structure was employed in the present study. As a result of BSA embedding in the CA formulation, approximately three-times higher loading efficiency was achieved for pac [...]

by Joep Geraedts

Received: 08 April 2019;  Published: 14 August 2019;  doi: 10.21926/obm.genet.1903089

Mitochondrial diseases are among the most prevalent inborn errors of metabolism. The overwhelming majority of mitochondrial diseases (about 85%) result from mutations in nuclear genes involved in oxidative phosphorylation, while some (15%) are caused by mutations in mitochondrial DNA (MtDNA). The familial mtDNA mutations are exclusively inherited from the mother. There are four main methods available to prevent the transmission of mtDNA mutations: preimplantation genetic diagnosis (PGD) or prenatal diagnosis (PND) [...]

by Ilaria Scarpelli  , Fabienne Marcelli  , Francesca Mattioli  and Jacqueline Schoumans

Received: 01 April 2019;  Published: 09 August 2019;  doi: 10.21926/obm.genet.1903088

With the advent of next-generation sequencing (NGS), genomic profiling of tumors has been gradually introduced into the clinical setting and has become a standard in cancer care. NGS allows convenient, rapid, and inexpensive sequencing and the commercially available NGS panels enable the detection of single or global genomic alterations of germline and somatic origin. Today, genomic mutation profiling using NGS is indispensable for disease evaluation and prediction of prognosis or responsiveness to cancer therapy. [...]

by M. Robyn Andersen  , Kelsey Afdem  , Marcia Gaul  , Shelly Hager  , Erin Sweet  and Leanna J. Standish

Received: 27 February 2019;  Published: 26 July 2019;  doi: 10.21926/obm.genet.1903087

Patients’ lay theories about the cause of their cancer may influence patient behavior and adjustment, they have also been found to differ substantially from scientific evidence of cancer risk factors. This report describes beliefs about genetic causes of breast cancer, among 522 recently diagnosed breast cancer survivors participating in an observational study. Patients were asked to respond to an open-ended question about the cause of their cancer. Causes mentioned included family history, genetics, lifestyl [...]