Table of Content

Open Access Original Research

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

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

Abstract

Background: It is known that radiosensitivity is very individual. This can influence the tumor response and side effects in normal tissue after radiotherapy of cancer. Therefore we analyzed the sensitivity of a lung cancer cohort to see if they display a similar radiosensitivity distribution if comp [...]

432 2140

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

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

Abstract

(1) Background: T-cell acute lymphoblastic leukemia (T-ALL) is an aggressive malignancy of thymocytes with multiple genetic abnormalities, accounting for 15% and 25% of newly diagnosed cases of ALL in children and adults, respectively. Notably, T-ALL has a 3-fold higher incidence in males. Cytogenet [...]

399 1997

Open Access Review

Airborne Interindividual Transmission of Pneumocystis jirovecii

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

Abstract

Pneumocystis pneumonia (PCP) is still the most frequent AIDS-defining disease in developed countries and also concerns patients with other immunodeficiencies not associated with HIV. Experimental studies on rodent models carried out in the early eighties have showed that Pneumocystis sp. can be tran [...]

445 2170

Open Access Review

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

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. To this complex process of demolition and rebuilding, non-coding RNAs actively participate. In this review, the contribution of dysregulated non-coding RNA expres [...]

444 2241

Open Access Review

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

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

Abstract

At the end of the 20th century, the notion of a unique species in the genus Pneumocystis (i.e. Pneumocystis carinii) was challenged and our understanding of the natural history of pneumocystosis was drastically changed. It is now accepted that the Pneumocystis genus comprises multiple stenoxenic bio [...]

478 2497

Open Access Case Report

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

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

Abstract

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 m [...]

475 2716

Open Access Review

FISHing for Unstable Cellular Genomes in the Human Brain

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 chromosomal level, which are involved in neuronal diversity in health and disease. Brain-specific chromosomal mosiacism (aneuploidy) and chromosome instability play a role in normal and pathological neur [...]

396 2078

Open Access Editorial

Epigenetics is Here to Stay

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

Abstract

none

412 2202

Open Access Review

Disturbed Ovarian Differentiation in XX;SRY-Negative Dogs

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 d [...]

484 3145

Open Access Case Report

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

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 (2 [...]

454 2595

TOP