by Alvin Ho Kwan Cheung  , Nancy Bo-Yin Tsui  , William Chi Shing Cho  , Xiao-Meng Pei  , Yin-Kwan Evelyn Wong  , Hin-Fung Andy Tsang  , Gilberto Ka-Kit Leung  and Sze-Chuen Cesar Wong

Received: 02 May 2020;  Published: 28 June 2020;  doi: 10.21926/obm.genet.2002112

Background: Vestibular schwannoma is an intracranial tumor which can lead to devastating neurological deficit and is prone to recurrence after surgery. Patients with inherited neurofibromatosis type 2 (NF2) syndrome are particularly susceptible to bilateral and aggressive schwannomas. However, the genome of vestibular schwannomas is not well known. There is an imminent need of developing effective chemotherapeutic agents either as a primary treatment modality or as adjuvant therapy for these patients. Methods: Here [...]

by Joep Geraedts

Received: 02 May 2020;  Published: 23 June 2020;  doi: 10.21926/obm.genet.2002111

This article reviews the genetic testing of infertility disorders. Genetic abnormalities can lead to disturbances of sexual development and hamper reproduction by influencing gamete production and maturation, fertilization, and embryonic development. Until now, the vast majority of detectable genetic abnormalities causing infertility were chromosomal abnormalities in both males and females. However, the number of monogenetic disorders, which play a role in disturbing fertility, such as single gene defects or comple [...]

by Yi Song  , Carlos Rivera  , Jiayu Mai  , Annie Sun  and Weihan Li

Received: 23 March 2020;  Published: 22 May 2020;  doi: 10.21926/obm.genet.2002110

The majority of the secretory and transmembrane proteins are folded in the endoplasmic reticulum (ER). When unfolded proteins accumulate in the ER, a collective of signalling pathways, termed the unfolded protein response (UPR), are activated to restore the ER protein folding homeostasis. The most evolutionarily conserved branch of UPR is mediated by the kinase/endoribonuclease Ire1. Ire1 mediates a cytosolic non-conventional mRNA splicing reaction of HAC1 mRNA in yeast and XBP1 mRNA in mammalian cells. The spliced [...]

by Jun Gu  , Zhenya Tang  , Hui Chen  , Steven Sfamenos  and Katherine B Geiersbach

Received: 02 March 2020;  Published: 13 May 2020;  doi: 10.21926/obm.genet.2002109

Quantitative image analysis of the status of human epidermal growth factor receptor 2 (HER2) by both immunohistochemistry staining and fluorescent in situ hybridization (FISH) is important for the treatment of breast cancer. Guidelines of the American Society for Clinical Oncology and College of American Pathologists, for HER2 FISH, have evolved over time to improve test accuracy, and efforts have been made to better address the problems with the interpretation that are encountered with borderline-positive cases. S [...]

by Lorraine Cowley  and Mari Jones

Received: 30 December 2019;  Published: 26 April 2020;  doi: 10.21926/obm.genet.2002108

This paper explores views of healthcare professionals (HCPs) in genetics and foetal medicine settings on offering pre-natal diagnosis (PND) for adult onset cancer susceptibility (AOCS) genes. Study participants came from different disciplinary backgrounds and all had considered implications of offering PND for AOCS, directly or indirectly, from professional and personal perspectives. Foetal medicine and genetics teams are accustomed to offering PND with the possibility of terminating an affected foetus on the basis [...]

by Xi Chen  and Jianhua Xuan

Received: 19 October 2019;  Published: 07 April 2020;  doi: 10.21926/obm.genet.2002107

The analysis of gene networks and signalling pathways plays a key role in understanding gene functions, i.e., their effects on the development of a particular disease. Yet, for many heterogeneous diseases, the number of known disease-associated genes is limited. Identifying disease-associated genes is still an open challenge. To understand the functions of genes associated with a disease, we develop a Metropolis-Hastings sampling based SIGnificant NETwork (MSIGNET) identification approach. MSIGNET integrates diseas [...]

by Joun Park  , Xianzun Tao  and R. Grace Zhai

Received: 13 January 2020;  Published: 20 March 2020;  doi: 10.21926/obm.genet.2001106

By adjusting gene expression in response to environmental changes, cells can optimize fitness as needed. Alternative splicing is one of the most important post-transcriptional regulation steps, broadly involved in diverse physiological and pathological conditions. Here, we present 5 cases of alternative splicing conferring increased neuroprotection through diverse mechanisms. These examples highlight the enormous power of alternative splicing in maintaining viability of neurons. From pre-mRNA secondary structure al [...]

by Mohamed Zaiou

Received: 16 March 2020;  Published: 17 March 2020;  doi: 10.21926/obm.genet.2001105

by Yuri Shavrukov

Received: 03 March 2020;  Published: 04 March 2020;  doi: 10.21926/obm.genet.2001104

by Kwang Poo Chang  , Dennis K.P. Ng  , Chia-Kwung Fan  , Ramesh B. Batchu  and Bala K. Kolli

Received: 29 December 2019;  Published: 24 February 2020;  doi: 10.21926/obm.genet.2001103

The parasitic protozoa in the genus of Leishmania have exceptionally favorable attributes for exploitation as a vehicle for safe and effective delivery of transgenically incorporated vaccines against infectious and malignant diseases. A dual suicidal mechanism was installed in Leishmania via genetic and chemical engineering in vitro for accumulation of photosensitizers, rendering them sensitive to dim light for inactivation. Leishmania so inactivated are non-viable, but immunologically competent to deliver vaccines [...]