Gene Teams are on the Field: Evaluation of Variants in Gene-Networks Using High Dimensional Modelling.

In medical genetics, each genetic variant is evaluated as an independent entity regarding its clinical importance. However, in most complex diseases, variant combinations in specific gene networks, rather than the presence of a particular single variant, predominates. In the case of complex diseases, disease status can be evaluated by considering the success level of a team of specific variants.

Cytogenetic profile of adult AML patients in Turkey: a single center study with comprehensive comparison with literature.

Background: Cytogenetic findings are important prognostic factors in acute myeloid leukemia. Large systematic data about chromosomal characteristics of Turkish AML patients have not been reported to date.

Objectives: The karyotypic profiles of 157 adult AML patients were evaluated retrospectively and compared with other reports from different populations.

A Novel and Mosaic WDR45 Nonsense Variant Causes Beta-Propeller Protein-Associated Neurodegeneration Identified Through Whole Exome Sequencing and X chromosome Heterozygosity Analysis.

Beta-propeller protein-associated neurodegeneration (BPAN) is an X-linked rare dominant disorder of autophagy. The role of WDR45 has been implicated in BPAN almost exclusively in females possibly due to male lethality. Characterization of distinctive clinical manifestations and potentially the complex genetic determinants in rare male patients remain crucial for deciphering BPAN and other X-linked dominant diseases.

Analysis of Chromosome 3, 7 and 8 Centromeric Regions in Bronchial Lavage Specimens by FISH.

Objectives: Multiple genetic changes are observed in malignant tumors but are rare or absent in benign conditions. Aneuploidy is the most common feature of solid tumors including lung cancer and diagnosis of malignant tumors is possible through detection of aneuploidy. The aim of this study was to investigate chromosomal abnormalities in cells from non-small cell lung cancer patients obtained bronchoscopically and to evaluate the suitability of fluorescence in situ hybridization (FISH).

A unique mosaic Turner syndrome patient with androgen receptor gene derived marker chromosome.

Patients with Turner syndrome are generally characterized by having short stature with no secondary sexual characteristics. Some abnormalities, such as webbed neck, renal malformations (>50%) and cardiac defects (10%) are less common. The intelligence of these patients is considered normal.

Association of the Ala16Val MnSOD gene polymorphism with plasma leptin levels and oxidative stress biomarkers in obese patients.

Chronic oxidative stress is a major characteristic of obesity. Manganese superoxide dismutase (MnSOD) is an antioxidant enzyme known to be present within mitochondria and is considered a main defense against oxidative stress. The aim of this study was to investigate the association between the MnSOD gene Ala16Val polymorphism in obesity in terms of body mass index (BMI), lipid parameters, plasma leptin levels, homeostasis model assessment of insulin resistance (HOMA-IR), and oxidative stress biomarkers.

P-selectin expression in a colon tumor model exposed by sinusoidal electromagnetic fields.

P-selectin is mainly involved in the initial process of tumor cell adhesion to platelets. The aim of the present study was to determine the expression level of P-selectin in a colon tumor model affected by sinusoidal electromagnetic fields (SMF). Male Wistar albino rats aged 2-2.

Variant Philadelphia translocations with different breakpoints in six chronic myeloid leukemia patients.

Objective: The Philadelphia (Ph) chromosome, consisting of the t(9;22)(q34;q11) translocation, is observed in ~90% of patients with chronic myeloid leukemia (CML). Variant Ph translocations are observed in 5%-10% of CML patients. In variant translocations 3 and possibly more chromosomes are involved.

A childhood acute lymphoblastic leukemia (ALL) case with t(3;17)(q23;p13),t(5;12)(q31;p13),inv(11)(p15q12).

It is known that clonal chromosomal changes in childhood ALL are nonrandom and important markers for diagnosis, prognosis and relaps. In this report we present 4 year-old boy with ALL-L1 who has complex chromosomal rearrangements. Chromosome analysis was performed on bone marrow aspiration sample in relaps after one year from diagnosis and induction chemotherapy.