02 - OBM Genetics - LIDSEN Publishing Inc.丨The Open Access Publisher

Volume 3,Issue 2

Open Access Original Research

Individual Radiosensitivity in Lung Cancer Patients Assessed by G0 and Three Color Fluorescence in Situ Hybridization

Theresa Mayo ,

Barbara Schuster ,

Anna Ellmann ,

Manfred Schmidt ,

Rainer Fietkau and

Luitpold V. Distel

Received: 27 July 2018; Published: 26 June 2019; doi: 10.21926/obm.genet.1902082

Abstract

Background: It is well known that radiosensitivity varies substantially from individual to individual. This may influence the tumor response and also cause side effects in normal tissues following the radiotherapy treatment for cancers. Therefore, we aimed to analyze the sensitivity of a lung cancer cohort to see whether patients display similar radiosensitivity distribution as compared to healthy individuals. Method [...]

Open Access Case Report

A De Novo Childhood Case of T-cell Lymphoblastic Leukemia with High Hyperdiploid Karyotype Carrying an Unreported Balanced Translocation t(X;5)(q26;q31.3~32) in A Male Patient

Walid AL-ACHKAR ,

Manar As’sad ,

Thomas Liehr ,

Adnan Ikhtiar and

Abdulsamad Wafa

Received: 14 August 2018; Published: 20 June 2019; doi: 10.21926/obm.genet.1902081

Abstract

Background: The aggressive T-cell acute lymphoblastic leukemia (T-ALL) is one of the frequently occurring malignancies of the thymocytes. T-ALL is observed in 15% and 25% of all new diagnosed ALL cases in children and adults, respectively. Notably, T-ALL has a 3-fold higher incidence in males than in females. In nearly half of T-ALL cases, structural and/or numerical chromosomal abnormalities are detected, which have an important prognostic s [...]

Open Access Review

Airborne Interindividual Transmission of Pneumocystis jirovecii

Laurence Pougnet ,

Gilles Nevez and

Solène Le Gal

Received: 17 December 2018; Published: 22 May 2019; doi: 10.21926/obm.genet.1902080

Abstract

Pneumocystis pneumonia (PCP) is the most frequent AIDS-defining disease among HIV-infected individuals in developed countries, and also affects immunocompromised non-HIV patients. Experimental studies on rodent models carried out in the early eighties have shown that Pneumocystis spp. can be transmitted via the airborne route. Unfortunately, this mode of acquisition and transmission has long been overlooked by physicians because PCP in immunosuppressed p [...]

Open Access Review

The Changed Transcriptome of Muscular Dystrophy and Inflammatory Myopathy: Contributions of Non-Coding RNAs to Muscle Damage and Recovery

Boel De Paepe

Received: 28 February 2019; Published: 16 May 2019; doi: 10.21926/obm.genet.1902079

Abstract

In order to successfully recover from damage, skeletal muscle tissue requires proper activation of a tightly orchestrated repair program. Non-coding RNAs actively participate in this complex process of demolition and rebuilding. In this review, the contribution of dysregulated non-coding RNA expression to disease-associated pathological changes is explored in hereditary muscular dystrophies and idiopathic inflammatory myopathies. Disturbances in spatiotemporal expression of non-coding RNAs appea [...]

Open Access Review

Pneumocystis Species Co-evolution: State-of-the-Art Review

Christine Demanche ,

Jacques Guillot and

Magali Chabé

Received: 22 February 2019; Published: 15 May 2019; doi: 10.21926/obm.genet.1902078

Abstract

Pneumocystis spp. are a group of fungi that are known for causing opportunistic infections in immunocompromised individuals. It was only at the end of the 20th century that the scientific community challenged the notion of a unique species in the genus Pneumocystis (i.e., Pneumocystis carinii) that drastically changed the understanding of the natural history of pneumocystosis. It is now accepted that the Pneumocystis

Open Access Case Report

Diagnosis of Fetal Kabuki Syndrome By Exome Sequencing Following Non-Specific Ultrasound Findings

Hagit Daum ,

Simcha Yagel and

Mordechai Shohat

Received: 11 March 2019; Published: 15 May 2019; doi: 10.21926/obm.genet.1902077

Abstract

Background: Fetal exome sequencing is becoming a crucial modality for genetic investigation whenever fetal malformations are documented in the context of normal chromosomal microarray analysis (CMA). When ultrasound findings are non-specific, the robustness of exome sequencing may be the only way to achieve a molecular diagnosis during pregnancy. Case: We describe a case of multiple non-sp [...]

Open Access Review

FISHing for Unstable Cellular Genomes in the Human Brain

Yuri B. Yurov ,

Svetlana G. Vorsanova and

Ivan Y. Iourov

Received: 06 February 2019; Published: 30 April 2019; doi: 10.21926/obm.genet.1902076

Abstract

The human brain has been repeatedly shown to exhibit intercellular/somatic genomic variations at the chromosomal level, which are involved in the neuronal diversity in health and disease. Brain-specific chromosomal mosaicism (aneuploidy) and chromosome instability play a role in the normal and pathological neurodevelopment, neurodegeneration and aging of the central nervous system. Regardless of achievements in somatic cell (single-cell) genomics, there is still no consensus on the amounts of ch [...]

Open Access Editorial

Epigenetics is Here to Stay

Marcel Mannens

Received: 24 April 2019; Published: 30 April 2019; doi: 10.21926/obm.genet.1902075

Abstract

none

Open Access Review

Disturbed Ovarian Differentiation in XX;SRY-Negative Dogs

Rita Payan-Carreira

Received: 30 December 2018; Published: 29 April 2019; doi: 10.21926/obm.genet.1902074

Abstract

In a mammal, at the beginning of its development, the gonad is bipotential. The shift into a male or female pathway is coordinated by the sex chromosomal complement, which triggers a series of genetic pathways signaling the developmental pattern of the gonadal anlage. Being mutually exclusive, the differentiated gonad should be either a testis or an ovary. In females, the absence of SRY, a testis-determining gene, drives the signaling cascades controlling the ovarian differentiation. Albeit rare [...]

Open Access Case Report

Fluorescence in Situ Hybridisation (FISH) is the First Tool to Identify Hypodiploidy in Paediatric Acute Lymphoblastic Leukaemia

Racha El-Hajj Ghaoui ,

Dorothy Hung and

Bhavna Padhye

Received: 24 December 2018; Published: 17 April 2019; doi: 10.21926/obm.genet.1902073

Abstract

Hypodiploidy has a low incidence in childhood acute lymphoblastic leukaemia (ALL). Patients are usually stratified into three subgroups, to allocate the correct treatment according to their ploidy level: high hypodiploidy (40-45 chromosomes), low hypodiploidy (33-39 chromosomes) and near haploidy (23-29 chromosomes). In this paper, a case is presented of near-haploid childhood ALL where fluorescence in situ hybridisation (FISH) provided an insight into the near-haploidy chro [...]

Open Access Review

RNA Editors and DNA Mutators: Cancer Heterogeneity Through Sequence Diversification

Rafail Nikolaos Tasakis ,

F. Nina Papavasiliou and

Rita Shaknovich

Received: 03 December 2018; Published: 08 April 2019; doi: 10.21926/obm.genet.1902072

Abstract

Cancer development and progression is strongly associated with somatic mutations. From oncogenic hits that initiate the primary tumor formation to metastasis, the tumor mutational burden (TMB) plays a prominent role in the disease progression for the vast majority of cancer types. Not only are heterogeneous mutational loads or genetic heterogeneity causal to transcriptomic and proteomic discrepancies and to phenotypic diversity between individuals, they are also between tumor cells. But in addit [...]

Open Access Review

Molecular Mechanisms of Canine Cancers

Jennie Cao ,

Valentina L Kouznetsova and

Igor F Tsigelny

Received: 30 January 2019; Published: 01 April 2019; doi: 10.21926/obm.genet.1902071

Abstract

Cancer is the leading cause of death in dogs, and 50 percent of dogs over the age of 10 develop cancer at some point. The most common cancers in dogs include lymphoma, mast cell tumors, osteosarcoma, mammary gland tumors, and melanoma, and many of them share marked similarities with their human counterparts. Although canines are afflicted with many of the same types of cancers as humans, the genetic basis behind these cancers are not as well understood. Thus, the aim of this study is to elucidat [...]

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