Publications by authors named "Nuriye Gokce"

SMA (spinal muscular atrophy) is an autosomal recessive neuromuscular disease that causes muscle atrophy and weakness. SMA is diagnosed by a homozygous deletion in exon 7 of the gene. However, mutations in genes located in the SMA region, such as , and may also contribute to the severity of the disease.

View Article and Find Full Text PDF
Article Synopsis
  • AI platforms are important tools in genetics and medicine, helping to analyze lots of patient data and find new diseases.
  • They are making it possible to better understand complex health issues and improve treatments for things like rare diseases and cancers.
  • These technologies are helping doctors make better decisions for patient care, leading to more personalized and effective treatments.
View Article and Find Full Text PDF

Objective: Breast cancer (BC) is the most common cancer type in women and may be inherited, mostly in an autosomal dominant pattern. The clinical diagnosis of BC relies on the published diagnostic criteria, and analysis of two genes, and , which are strongly associated with BC, are included in these criteria. The aim of this study was to compare BC index cases with non-BC individuals in terms of genotype and diagnostic features to investigate the genotype/demographic information association.

View Article and Find Full Text PDF

Extracellular vesicles (EVs) are produced by various cells and exist in most biological fluids. They play an important role in cell-cell signaling, immune response, and tumor metastasis, and also have theranostic potential. They deliver many functional biomolecules, including DNA, microRNAs (miRNA), messenger RNA (mRNA), long non-coding RNA (lncRNA), lipids, and proteins, thus affecting different physiological processes in target cells.

View Article and Find Full Text PDF

Epigenetics, defined as "hereditary changes in gene expression that occur without any change in the DNA sequence", consists of various epigenetic marks, including DNA methylation, histone modifications, and non-coding RNAs. The epigenome, which has a dynamic structure in response to intracellular and extracellular stimuli, has a key role in the control of gene activity, since it is located at the intersection of cellular information encoded in the genome and molecular/chemical information of extracellular origin. The focus shift of studies to epigenetic reprogramming has led to the formation and progressive importance of a concept called "nutriepigenetics", whose aim is to prevent diseases by intervening on nutrition style.

View Article and Find Full Text PDF

Hair loss is a widespread concern in dermatology clinics, affecting both men's and women's quality of life. Hair loss can have many different causes, which are critical to identify in order to provide appropriate treatment. Hair loss can happen due to many variables, such as genetic factors or predisposition, vitamin and mineral deficiencies, skin problems, hair growth disorders, poor diet, hormonal problems, certain internal diseases, drug use, stress and depression, cosmetic factors, childbirth, and the chemotherapy process.

View Article and Find Full Text PDF
Article Synopsis
  • Alzheimer's disease (AD) is a neurodegenerative condition leading to cognitive decline and significantly impacting quality of life, particularly in individuals over 65 years old.
  • The study examined specific genes to determine their role in late-onset Alzheimer's disease (LOAD) and assessed their potential as biomarkers for early diagnosis and treatment.
  • Results showed no difference in expression levels for some genes between patients and controls, while two specific genes had significantly lower expression in patients, suggesting their potential as diagnostic biomarkers for LOAD.
View Article and Find Full Text PDF
Article Synopsis
  • Imatinib mesylate is the leading treatment for chronic myeloid leukemia, but patients can develop resistance due to mutations in the BCR/ABL region.
  • The study evaluated 124 patients using pyrosequencing from 2015 to 2020, discovering a resistance rate of 4.03% overall, which increased to 15.6% among patients with a partial response to the treatment.
  • Next-generation sequencing (NGS) was also used on 15 resistant patients, revealing one case with a Variant of Uncertain Significance, highlighting the study's focus on assessing mutation detection methods and their clinical implications.
View Article and Find Full Text PDF