Human Genetics
Retrospective Investigation of Interleukin 1 and 6 Gene Polymorphism among Elderly Patients with Sarcopenia in the Turkish Population
Authors: Pinar Tosun Tasar
Introduction: Sarcopenia, one of the geriatric syndromes, is defined as generalized and progressive reduction in skeletal muscle mass accompanied by loss of muscle strength and/or function. There is a paucity of research in the Turkish population about the effects of interleukin 1 (IL-1) and IL-6 gene polymorphism on sarcopeni.. Read More»
- Genet. Mol. Res. 17(1):
- gmr16039881
- DOI:
- 10.4238/gmr16039881
Prenatal diagnosis of ventricular septal defect and trisomy 7q11.23q21.3 in two fetuses: A case report
Authors: Kai Mu, Li-Sha Chen, Juan Wen, Yi Liu, Na Liu, Dong-Hua Cao
The objective of prenatal diagnosis (PD) is to provide prenatal diagnostic testing services for genetic conditions that enable families to make informed choices consistent with their individual needs and values, and to support them in deal with the outcome of such testing. This case we reported is about two fetuses with ventri.. Read More»
- Genet. Mol. Res. 17(1):
- gmr16039878
- DOI:
- 10.4238/gmr16039878
Bell’s palsy following growth hormone therapy in a patient with Prader-Willi syndrome: The first report
Authors: Setila Dalili, Elham Bidabadi, Babak Behnam
Prader–Willi syndrome (PWS) is a complex genetic disorder with different manifestations in infancy and childhood including obesity, type 2 diabetes mellitus, mild to moderate intellectual impairment and learning disabilities. In this syndrome, growth hormone therapy improves outcomes. For the first time, here we report a.. Read More»
- Genet. Mol. Res. 17(1):
- gmr16039877
- DOI:
- 10.4238/gmr16039877
Role of KRAS in NSCLC: present and future
Authors: Addeo A, Bini R
Lung cancer is the leading cause of cancer-related deaths worldwide. Despite therapeutic advances over the last several decades, the overall 5-year survival remains only 16%. (Siegel R, 2013). Molecular studies have indicated that Adenocarcinomas have distinct genomic alterations allowing classification into clinically relevan.. Read More»
- Genet. Mol. Res. 17(1):
- gmr16039873
- DOI:
- 10.4238/gmr16039873
Biophysical and biochemical mechanisms disturbance of cellular genome leading to transmutation benign neoplasm into cancer
Authors: Ponizovskiy M.R.
It was considered processes transmutation of genome mechanism from the point of view of thermodynamics, biophysics, and biochemistry. Just it was explained mechanisms maintenance stability Internal Energy of Stationary State an able-bodied organism according first law of thermodynamics. Besides it was considered some negative .. Read More»
- Genet. Mol. Res. 17(1):
- gmr16039860
- DOI:
- 10.4238/gmr16039860
A novel homozygous stop gain mutation in SLC12A3 gene cause Gitelman syndrome in Saudi consanguineous family
Authors: Muhammad Imran Naseer, Osama Yousef Muthaffar , Mahmood Rasool, Angham Abdulrahman Abdulkareem, Mohammad Alam Jafri, Peter Natesan Pushparaj, Gauthaman Kalamegam, Adeel G. Chaudhary, Mohammad H. Al-Qahtani
Gitelman syndrome (GS) is a genetic disorder that affects kidney and causes an imbalance of charged atoms (ions) in the body, including ions of potassium, magnesium, and calcium. GS is characterized by hypokalemia and metabolic alkalosis. GS is a rare autosomal recessive renal tubulopathy disease caused by loss-of-function mut.. Read More»
- Genet. Mol. Res. 17(1):
- gmr16039858
- DOI:
- 10.4238/gmr16039858
Morphological Variation of Perilla Crop and Their Weedy Types from Northern and Southern Areas of China
Authors: S.J. Ma and J.K. Lee
In this study, we detected the morphological variation of 91 Perilla accessions from Northern and Southern China by the measurement of 7 quantitative and 10 qualitative characters. The accessions of cultivated var. frutescens were significantly different from accessions of weedy var. frutescens and cultivated and weedy types o.. Read More»
- Genet. Mol. Res. 16(4):
- gmr16039853
- DOI:
- 10.4238/gmr16039853
Differential expression of trypsin-3 and phosrestin II genes in the main malaria vector, Anopheles darlingi, from the Brazilian Amazon region
Authors: Ohse, K.C, Matiolli, C.C, Scarpassa, V.M, Santos, V. S, Tadei, W. P, Rafael, M. S
Anopheles darlingi is the most anthropophilic mosquito related to Plasmodium infection of malaria, causing significant morbidity and mortality in South America. Pyrethroid chemical has been used to control mosquitos. We analyzed the expression of trypsin-3 and phosrestin II genes implicated to feeding and resistance to insecti.. Read More»
- Genet. Mol. Res. 16(4):
- gmr16039852
- DOI:
- 10.4238/gmr16039852
Characterization of molecular hemoglobin c and beta thalassemia
Authors: M.H. Lagares, M.S. Rabelo, C.G.B. Dias-penna, R.S. Mascarenhas, K.S.F. Silva and K.K.V.O. Moura
The hemoglobinopathies are a group of hereditary alterations prevalent in many parts of the world, but significantly affect the Brazilian population for its abundant miscegenation. These alterations in structural genes that cause the formation of hemoglobin variants, and/or regulatory genes, causing thalassemias. Currently, th.. Read More»
- Genet. Mol. Res. 16(4):
- gmr16039851
- DOI:
- 10.4238/gmr16039851
Exploring olive trees genetic variability in the South East of Tunisia
Authors: M. Ben Mohamed, S. Zelasco, S. Ben Ali F. Guasmi, T. Triki, F. L. Conforti, G. Kamoun Naziha
Tunisia is one of the most important olive growing countries in the Mediterranean basin and it is classified in fourth rank on world scale in terms of olive oil production. Since the emergence of the modern oliviculture, the identification, the evaluation and conservation of the local genetic resources have been considered as .. Read More»
- Genet. Mol. Res. 16(4):
- gmr16039850
- DOI:
- 10.4238/gmr16039850