A mutation in the nucleoporin-107 gene causes XX gonadal dysgenesis

A Weinberg-Shukron, P Renbaum… - The Journal of …, 2015 - Am Soc Clin Investig
Ovarian development and maintenance are poorly understood; however, diseases that
affect these processes can offer insights into the underlying mechanisms. XX female …

A rapid and efficient DNA extraction protocol from fresh and frozen human blood samples

P Guha, A Das, S Dutta… - Journal of clinical …, 2018 - Wiley Online Library
Background Different methods available for extraction of human genomic DNA suffer from
one or more drawbacks including low yield, compromised quality, cost, time consumption …

Identification of a novel missense heterozygous mutation in the KDF1 gene for non-syndromic congenital anodontia

Y Pan, S Yi, D Chen, X Du, X Yao, F He… - Clinical Oral …, 2022 - Springer
Objectives KDF1 is a recently identified gene related to tooth development, but it has been
little studied. To date, only three cases have been reported in which KDF1 mutations are …

NKX2-2 Mutation Causes Congenital Diabetes and Infantile Obesity With Paradoxical Glucose-Induced Ghrelin Secretion

A Auerbach, A Cohen, N Ofek Shlomai… - The Journal of …, 2020 - academic.oup.com
Context NKX2-2 is a crucial transcription factor that enables specific β-cell gene expression.
Nkx2-2 (–/–) mice manifest with severe neonatal diabetes and changes in β-cell progenitor …

[HTML][HTML] TENT: a rapid DNA extraction method of Staphylococcus aureus

S Hassanzadeh, MR Pourmand, D Afshar… - Iranian Journal of …, 2016 - ncbi.nlm.nih.gov
Recently different methods are introduced for DNA extraction from bacteria. Bacterial DNA
can be extracted using a commercial kit and conventional (eg, boiling, phenol-chloroform …

Efficacy of decitabine as hemoglobin F inducer in HbE/β-thalassemia

SA Kalantri, R Ray, A Chattopadhyay… - Annals of …, 2018 - Springer
To study safety, efficacy (hemoglobin and hemoglobin F percentage increment in non-
transfusion-dependent patients and decrease in transfusion frequency in transfusion …

The gain-of-function FAM83H mutation caused hypocalcification amelogenesis imperfecta in a Chinese family

Y Zheng, T Lu, J Chen, M Li, J Xiong, F He… - Clinical Oral …, 2021 - Springer
Objectives Autosomal-dominant hypocalcification amelogenesis imperfecta (ADHCAI) is a
hereditary disease characterized by enamel defects. ADHCAI is mainly caused by nonsense …

The association between glutathione S-transferase T1 and M1 gene polymorphisms and cardiovascular autonomic neuropathy in Slovak adolescents with type 1 …

J Vojtková, P Ďurdík, M Čiljaková, Z Michnová… - Journal of Diabetes and …, 2013 - Elsevier
Glutathione S-transferase (GST), as antioxidant enzyme, protects tissue from oxidative
damage typical for many pathologic conditions as type 1 diabetes (T1D) and its chronic …

Evaluation of RE and B1 Genes as Targets for Detection of Toxoplasma gondii by Nested PCR in Blood Samples of Patients with Ocular Toxoplasmosis

B Rahimi Esboei, B Kazemi, M Zarei, M Mohebali… - Acta parasitologica, 2019 - Springer
Introduction To evaluate B1 and RE genes as targets to detect Toxoplasma gondii, nested
PCR is used in blood samples of patients with ocular toxoplasmosis. Materials and Methods …

Screening of exon 11 of BRCA1 gene using the high resolution melting approach for diagnosis in Moroccan breast cancer patients

M El Khachibi, B Diakite, K Hamzi, A Badou… - BMC cancer, 2015 - Springer
Background Identification of specific mutations in cancer patients may lead to the discovery
of genes, which can affect susceptibility and/or prognosis. It has previously been reported …