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Autor:
Maria I. Zervou, Michail Matalliotakis, Athena Andreou, Elias Eliopoulos, Demetrios A. Spandidos, George N. Goulielmos
Publikováno v:
Molecular Medicine Reports
Although genome-wide association studies (GWAS) have identified hundreds of autoimmune disease-associated loci, much of the genetics underlying these diseases remains unknown. In an attempt to identify potential causal variants, previous studies have
Autor:
Wang Liu, Pu Yao, Na Zhao, Feng‑Jun Sun, Lin Cheng, Ning Su, Xiao‑Dong Ren, Sai Ren, Bang‑Bi Weng, Xue‑Mei Qu, Qing Huang
Publikováno v:
Molecular Medicine Reports
Thiopurine S-methyltransferase (TPMT) plays an important role in the metabolism of thiopurines. Mutations in the TPMT gene can affect drug activity, which may have adverse effects in humans. Thus, genotyping can help elucidate genetic determinants of
Publikováno v:
Molecular Medicine Reports
Mutations in mitochondrial DNA (mtDNA), especially in mitochondrial 12S rRNA and transfer RNA(tRNA)Ser(UCN) genes, are important causes of non‑syndromic hearing loss. However, the molecular mechanism underlying mt‑tRNA mutations in clinical heari
Autor:
Doudou Chen, Siquan Zhu
Publikováno v:
Experimental and Therapeutic Medicine. 22
Congenital cataracts is the most common cause of visual impairment and blindness in children. Although there have been extensive studies into the pathogenesis of congenital cataracts, the pathogenic mechanism underlying the recurrent variant CRYBB2:c
Publikováno v:
Molecular Medicine Reports
Breast cancer manifests in diverse forms, with particular reference to various cell types harboring different mutations and gene expression profiles. To elucidate the clonal relationship between cancer cells in tumors composed of both ductal and lobu
Autor:
Li Qiong, Jun Chen, Wei Li, Wang Shujuan, An Xiaogang, Dingjun Zha, Yang Yang, Liang Pengfei, Jian Wang
Publikováno v:
Molecular Medicine Reports
Deafness is one of the most common sensory disorders found in humans; notably, >60% of all cases of deafness have been attributed to genetic factors. Variants in potassium voltage-gated channel subfamily Q member 4 (KCNQ4) are etiologically linked to
Publikováno v:
International Journal of Molecular Medicine
Bethlem myopathy (BM) is an autosomal dominant or autosomal recessive disorder and is usually associated with mutations in the collagen VI genes. In the present study, the pathogenicity of a novel splice-site mutation was explored using RNA-sequencin
Publikováno v:
Molecular Medicine Reports
Multiple acyl-CoA dehydrogenase deficiency (MADD) is a rare autosomal recessive disorder of fatty acid metabolism caused by defects in electron transfer flavoprotein (ETF) or electron transfer flavoprotein dehydrogenase (ETFDH). These defects are mai
Publikováno v:
Molecular Medicine Reports
Centromere protein M (CENPM), a protein required for chromosome separation, is involved in in mitosis. However, little has been reported about the roles of CENPM in various types of cancer. The present study identified that the mRNA expression levels
Publikováno v:
Molecular Medicine Reports
Retinitis pigmentosa (RP) is a group of inheritable blindness retinal diseases characterized by the death of photoreceptor cells and a gradual loss of peripheral vision. Mutations in Usher syndrome type 2 (USH2A) have been reported in RP with or with