Ara
Toplam kayıt 9, listelenen: 1-9
Thyroid hormone resistance with succinate dehydrogenase-B gene mutation
(Edizioni Minerva Medica, 2022)
Resistance to thyroid hormone (RTH) is characterized by non-suppressed TSH concentration despite high T4 and/or T3 levels.1 Resistance may develop at any steps in the hormone
receptor binding, signaling, or intracellular ...
Identification of candidate genes in a family with cancer overload by whole-exome sequencing
(Turkish National Pediatric Society, 2022)
Background. Approximately 120 out of every 1 million children in the world develop cancer each year. In Turkey, 2500-3000 children are diagnosed with new cancer each year. The causes of childhood cancer have been studied ...
Tuberous Sclerosis Complex and Cancer
(KARE PUBL, 2023)
Tuberous sclerosis complex (TSC) is a neurocutaneous syndrome that can affect multiple organ systems such as the brain, heart, and lung, and neurological disorders such as autism spectrum disorder and mental retardation ...
DNA methylation of KIFC1 gene in determination of histological diagnosis, prognosis and metastasis of lung cancer
(ELSEVIER GMBH, 2023)
Background: One of the main features of cancer, especially lung cancer (LC), is abnormal cell division. Abnormal expression of kinesin family member C1 (KIFC1/HSET), which is involved in mitotic cell division and ensures ...
RB1 gene mutations and genetic spectrum in retinoblastoma cases
(LIPPINCOTT WILLIAMS & WILKINS, 2023)
The aim of the study was to investigate the frequency and types of mutations on the retinoblastoma gene (RB1 gene) in Turkish population. RB1 gene mutation analysis was performed in a total of 219 individuals (122 probands ...
RB1 GENE MUTATIONS IN TURKISH PATIENTS WITH RETINOBLASTOMA
(WILEY, 2022)
RB1 GENE MUTATIONS IN TURKISH PATIENTS WITH RETINOBLASTOMA
Investigation of the methylation changes in the promoter region of RB1 gene in retinoblastoma
(Elsevier GmbH, 2024)
Retinoblastoma is an infrequent neoplasm that arises during childhood from retinal nerve cells and is attributed to the biallelic inactivation of the RB1 gene. In conjunction with anatomical anomalies, it is widely ...
Germline mutational variants of Turkish ovarian cancer patients suspected of Hereditary Breast and Ovarian Cancer (HBOC) by next-generation sequencing
(Elsevier GmbH, 2024)
Hereditary Breast and Ovarian Cancer (HBOC) syndrome is characterized by an increased risk of developing breast cancer (BC) and ovarian cancer (OC) due to inherited genetic mutations. Understanding the genetic variants ...
Aberrant miR-3135b and miR-1273g-3p expression in the peripheral blood samples of BRCA1/2 (±) ovarian cancer patients
(Elsevier Ltd, 2024)
Ovarian cancer (OC) ranks as the eighth most prevalent malignancy among women globally. The short non-coding RNA molecules, microRNAs (miRNAs) target multiple mRNAs and regulate the gene expression. Here in this study, we ...