by Khalid Saidov  , Anna Tiunova  , Oksana Subach  , Fedor Subach  and Konstantin Anokhin

Received: 12 October 2018;  Published: 04 March 2019;  doi: 10.21926/obm.genet.1901065

The method of cellular compartment analysis of temporal activity by fluorescent in situ hybridization (catFISH) is widely used in cellular and behavioral neurobiology. It exploits stimulus-induced expression of immediate early genes (IEGs) and allows identification of two neuronal populations activated in the brain of the same animal in response to neural or behavioral events spaced by 25-30 min. The differential labeling is based on visualization of nuclear RNA and cytoplasmic mRNA which is accumulated in neurons [...]

by Jin-Ho Lee  , Florence Laure Djiki Tchetgna  , Christoph Cremer  , Felix Bestvater  , Michael Hausmann  , Matthias Krufczik  and Eberhard Schmitt

Received: 14 September 2018;  Published: 19 February 2019;  doi: 10.21926/obm.genet.1901064

Background: Fluorescence In Situ Hybridization (FISH) has become routine for bio-medical research and medical diagnosis, thereby offering a variety of probes and ready-to-use kits that fulfil requirements for many applications. However, conventional FISH relies on chemo- and/or thermal denaturation to improve target accessibility and use huge amounts of DNAs that needs to be bonded to the target site. COMBinatorial Oligo-nucleotide FISH (COMBO-FISH) offers possibilities to circumvent these shortcomings. Methods: C [...]

by Elena Sala  , Donatella Conconi  , Francesca Crosti  , Nicoletta Villa  , Serena Redaelli  and Gaia Roversi

Received: 01 October 2018;  Published: 28 January 2019;  doi: 10.21926/obm.genet.1901063

Since its introduction around the end of the 1970s, interphase in situ hybridization supports classical and latest techniques for determining foetal karyotype in the prenatal diagnosis, providing relevant information for the management of pregnancy quickly. Interphase FISH plays an important role in the study of pregnancies with malformations, in mosaicism conditions, in confirming or excluding aneuploidy detected by non-invasive prenatal testing and in diagnosis of contiguous gene syndromes due to microdeletions. [...]

by Patrick Weber  , Cathia Rausch  , Annina Scholl  and M. Cristina Cardoso

Received: 22 July 2018;  Published: 25 January 2019;  doi: 10.21926/obm.genet.1901062

Background: Genetic repeat elements (interspersed or tandem repeats) have diverse functions within cells and at different phases of the cell cycle. Yet, their investigation at a genome-wide scale has been difficult ever since due to their repetitive nature. Here, we describe a method to study the DNA replication kinetics of different repeat elements in single cells throughout the S-phase of the cell cycle. Methods: Mouse major satellite, minor satellite and telomere repeat elements as well as human LINE-1 and Alu r [...]

by Paul Scriven

Received: 29 October 2018;  Published: 22 January 2019;  doi: 10.21926/obm.genet.1901061

United Kingdom guidelines recommend single embryo transfer (fresh or cryopreserved) in the first full assisted conception cycle for women under 40 years most at risk of having twins. Based on a recent randomized clinical trial for women aged 36 to 40 years, the hypothetical effect of preimplantation genetic testing for chromosome aneuploidy was extrapolated to single transfer of every morphologically transferable embryo available from a full cycle. Offering testing to every woman seems likely to result in fewer cli [...]

by Maud Gits-Muselli  , Stéphane Bretagne  and Alexandre Alanio

Received: 04 December 2018;  Published: 17 January 2019;  doi: 10.21926/obm.genet.1901060

Pneumocystis jirovecii is an atypical fungus transmitted via interhuman airborn contact. This fungus is exclusively associated with humans and almost each individual has encountered it at least once before reaching the age of two. Pneumocystis jirovecii can be responsible for spontaneously resolutive symptoms in infants and for severe pneumocystis pneumonia (PCP) in immunocompromised patients. The increase of the population of immunocompromised patients would probably lead to rising of PCP infections in the next de [...]

by Joep Geraedts

Received: 15 January 2019;  Published: 15 January 2019;  doi: 10.21926/obm.genet.1901059

A healthy and happy 2019

by Camila Sandoval  , Colleen A Lambo  and Michael Carey Satterfield

Received: 01 June 2018;  Published: 28 December 2018;  doi: 10.21926/obm.genet.1804058

Understanding the pathophysiology of disease can be an essential step to determining where and how to intervene for preventive or corrective health. Intrauterine growth restriction (IUGR) is a broad category of ailments described by low fetal weight and accompanying susceptibility to adult onset of chronic disease through fetal programming for a thrifty phenotype. This concern affects humans and animals alike, representing a large sum of healthcare costs worldwide, and a substantial loss in animal agricultural yiel [...]

by Whitney Rabacal  , Emily Rayens  and Karen Norris

Received: 02 November 2018;  Published: 27 December 2018;  doi: 10.21926/obm.genet.1804057

Pneumocystis causes life-threatening pneumonia in immunocompromised populations. More recently it has been implicated as a co-factor in a number of chronic lung diseases including chronic obstructive pulmonary disease (COPD), severe asthma, and cystic fibrosis. In this review, we will examine the current literature regarding Pneumocystis and lung diseases in the HIV and non-HIV immunocompromised populations, and the barriers to prophylaxis and treatment in these patients. Trimethoprim sulfamethoxazole (TMP-SMX) is [...]

by William E Sweeney  , Ameya Patil  and Ellis D. Avner

Received: 07 August 2018;  Published: 23 December 2018;  doi: 10.21926/obm.genet.1804056

Renal cysts are present in a wide variety of hereditary renal diseases in children. The term polycystic kidney disease (PKD) refers to two specific hereditary diseases, distinguished by the usual age of onset and genetic cause: autosomal recessive polycystic kidney disease/congenital hepatic fibrosis (ARPKD/CHF, MIM *606702) and autosomal dominant polycystic disease (ADPKD-OMIM *601313 and OMIM *173910). ARPKD/CHF is characterized by cystic dilations of the renal collecting ducts and developmental defects of biliar [...]