Mutation
Skeletal muscle calcium channel ryanodine and the development of pale, soft, and exudative meat in poultry
Authors: F.G. Pai�£o, L.M. Ferracin, M. Pedr�£o, T. Kato and M. Shimokomaki
The development of pale, soft, and exudative (PSE) breast fillet meat has become an economic burden for the poultry industry worldwide. PSE meat results in 1.0-1.5% loss in moisture and carcass weight, and a 2010 estimate of the Brazilian annual production put the economic loss due to PSE at over US$30 million. In the USA, PSE has caused an annual loss of.. Read More»
- Genet. Mol. Res. 12(3):
- 2013.August.20.3
- DOI:
- 10.4238/2013.August.20.3
Mutagenic influences of colchicine on phenological and molecular diversity of Calendula officinalis L.
Authors: Y.I. El-Nashar and M.H. Ammar
Six different colchicine concentrations: 0, 400, 800, 1200, 1600, and 2000 ppm, in combination with four soaking time treatments (1, 2, 3, and 4 h), were selected to assess the effects on germination, vegetative growth, and flower yield components in calendula plants. The molecular diversity among the treatments was assessed u.. Read More»
- Genet. Mol. Res. 15(2):
- gmr.15027745
- DOI:
- 10.4238/gmr.15027745
Molecular analysis of the SMN gene mutations in spinal muscular atrophy patients in China
Authors: W.L. Liu, F. Li, Z.X. He, R. Ai and H.W. Ma
Spinal muscular atrophy (SMA) is one of the most common autosomal recessive diseases. Survival motor neuron1 (SMN1) is the SMA disease-determining gene. We examined the molecular basis of SMA in 113 Chinese SMA patients. Homozygous exon 7 and 8 deletions in SMN1 were detected by PCR-RFLP. Heterozygous deletion of SMN1 was analyzed based on variation of th.. Read More»
- Genet. Mol. Res. 12(3):
- 2013.September.13.4
- DOI:
- 10.4238/2013.September.13.4
Mitochondrial and nuclear genes as the cause of complex I deficiency
Authors: A.R. Rezaee, A. Azadi, M. Houshmand, F. Mahmoodi, Z. Purpak, S. Safaei, P. Karimi, M. Ghabaee and M.A. Sahraian
Multiple sclerosis (MS) is an immunological inflammatory disease of the central nervous system. The pathogenesis of MS is incompletely understood, but various studies have suggested that mitochondrial dysfunction is associated with the disease. Mitochondria are among the main cellular sources of reactive oxygen and nitrogen species, and they play a pivota.. Read More»
- Genet. Mol. Res. 12(3):
- 2013.September.12.1
- DOI:
- 10.4238/2013.September.12.1
Novel and recurrent COL7A1 mutations in Chinese patients with dystrophic epidermolysis bullosa pruriginosa
Authors: K.J. Zhu, C.Y. Zhu*, Y. Zhou and Y.M. Fan
Dystrophic epidermolysis bullosa pruriginosa (DEB-Pr) is a rare subtype of dystrophic epidermolysis bullosa (DEB). This disease is characterized by severe itching, lichenoid nodules or prurigo-like lesions, and linear scarring with a predilection for the extensor limbs. Pathogenic mutations in the type VII collagen alpha 1 (CO.. Read More»
- Genet. Mol. Res. 13(3):
- 2014.September.12.26
- DOI:
- 10.4238/2014.September.12.26
Clinical and genetic analyses of Chinese patients with Gitelman syndrome
Authors: M. Miao, C.Q. Zhao, X.L. Wang and Z.Y. Shan
To evaluate the genotype-phenotype relationship of Gitelman syndrome in Chinese patients. We selected patients with Gitelman syndrome presenting hypokalemia. Medical history, clinical manifestations, laboratory test results, and imaging data of these patients were collected for analysis. Target gene sequencing was performed to.. Read More»
- Genet. Mol. Res. 15(2):
- gmr.15027859
- DOI:
- 10.4238/gmr.15027859
Phenotypic and biochemical profile changes in calendula (Calendula officinalis L.) plants treated with two chemical mutagenesis
Authors: Y.I. El-Nashar and A.A. Asrar
Chemical mutagenesis is an efficient tool used in mutation-breeding programs to improve the vital characters of the floricultural crops. This study aimed to estimate the effects of different concentrations of two chemical mutagens; sodium azide (SA) and diethyl sulfate (DES). The vegetative growth and flowering characteristics.. Read More»
- Genet. Mol. Res. 15(2):
- gmr.15028071
- DOI:
- 10.4238/gmr.15028071
Association between a point mutation at the -743-bp region of the transthyretin (TTR) gene and familial vitreous amyloidosis
Authors: X.M. Nie, S.J. Cai, B. Xie, X.W. Chen and M. Jiang
The aim of this study was to identify changes in the base sequence of the upstream regulatory region of the transthyretin (TTR) gene. Whole-blood DNA was extracted from ten subjects belonging to a family with familial amyloidosis vitreoretinopathy; the upstream regulatory sequence was amplified by polymerase chain reaction, detected by gel electrophoresis.. Read More»
- Genet. Mol. Res. 15(1):
- gmr.15016926
- DOI:
- 10.4238/gmr.15016926
Sequence analysis of the regulatory region of the TNF-RII gene in Polish Holstein-Friesian cows
Authors: A. Stachura, E. Kaczmarczyk and B. BojarojÃ?Â?-Nosowicz
Tumor necrosis factor receptor type II (TNF-RII) is a surface glycoprotein that can form a complex with TNF-α and participate in the body’s immune response. Functions of TNF-RII are impaired in the pathogenesis of viral diseases. We analyzed sequences in the regulatory region of the TNF-RII gene in cattle. An attempt was also made to identify .. Read More»
- Genet. Mol. Res. 12(2):
- 2013.April.2.19
- DOI:
- 10.4238/2013.April.2.19
Nucleotide mismatches of foot-and-mouth disease virus during replication
Authors: Y.B. Ma, C.X. Hao and H.Y. Chang
As there is a lack of error correction mechanisms during RNA replication, foot-and-mouth disease virus (FMDV) has a very high mismatch rate, which leads to a high mutation rate, in the range of 10-3 to 10-5 per nucleotide site per genome replication. We examined the nucleotide mismatch of FMDV during replication, based on the whole genomes of the 7 seroty.. Read More»
- Genet. Mol. Res. 12(2):
- 2013.April.2.18
- DOI:
- 10.4238/2013.April.2.18