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 …
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 …
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 …
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 …
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
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 …
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 …
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 …
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 …
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
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 …
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
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 …
of genes, which can affect susceptibility and/or prognosis. It has previously been reported …