Open Access Pub publishes peer-reviewed, free-to-read open-access articles. Showing
articles matching mutations — open any to read the full text,
or download the PDF or XML.
Aug 2018 DOI 10.14302/issn.2572-3030.jcgb-18-2183
Vladimir F. NiculescuCorresponding author
This paper reviews the state of cancer research in the post-mutation era. It presents cancer as a highly complex disease viewed differently by scientists from various research fields. Histopathologists considered cancer as a disease of cell differentiation, cancer cell biologists overestimated the c…
Apr 2018 DOI 10.14302/issn.2326-0793.jpgr-18-2004
Pervez AnwarCorresponding author
Human proteome project was revolutionized about 40 years ago with purpose of summarizing whole proteomic data at one place. It was launched after human genome project to map and observe all proteins. The goal related proteomic study is to draft the entire human proteome in disease diagnosis by using…
Aug 2017 DOI 10.14302/issn.2470-0436.jos-17-1721
Damien C. RodgerCorresponding author
A 57-year-old Hispanic female presented with 3 days of blurry vision in the left eye. Eight years prior, she had a branch retinal artery occlusion in the right eye and a hematologic work-up revealed a 4G/4G polymorphism in plasminogen activator inhibitor-1. With the current episode, she was found to…
Aug 2017 DOI 10.14302/issn.2638-4469.japb-17-1563
Dierk WankeCorresponding author
GAGA-binding proteins in plants are encoded by the BARLEY B-RECOMBINANT / BASIC PENTACYSTEINE (BBR/BPC) family, which can be spilt into several groups on the basis of sequence divergence. The proteins of the different groups share an evolutionary conserved BASIC PENTACYSTEINE (BPC) domain at their v…
Jul 2017 DOI 10.14302/issn.2577-2279.ijha-17-1538
Liping ZouCorresponding author
Status thymico-lymphaticus had ever been explained as a cause of sudden death usually in children, but few cases were reported in adults. We sought to determine the relationship between thymic hypertrophy and sudden unexpected death in adult (SUDA), and associated macroscopic and microscopic finding…
Jan 2017 DOI 10.14302/issn.2572-3030.jcgb-16-1307
Rafael MoralesCorresponding author
Interpreting variants of uncertain significance (VUS) for their effect on protein function, and therefore for the risk of developing cancer, has become a challenge in clinical practice for genetic counselling services. The present work combines structural bioinformatics and systems biology based mat…
Jan 2017 DOI 10.14302/issn.2575-7881.jdrr-16-1375
László GóthCorresponding author
We checked our simple screening technique for detection of the known polymorphism of rs769217, and the two acatalasemic mutations in exon 9 of the catalase gene. This fast and inexpensive method yielded better resolution than those of the standard SSCP. We suppose that the method detects the spontan…
Jun 2016 DOI 10.14302/issn.2470-5020.jnrt-16-993
Karin Jurkat-RottCorresponding author
Autosomal dominant inherited hypokalemic periodic paralysis (HypoPP) is caused by S4 voltage sensor mutations in skeletal muscle CaV1.1 calcium or NaV1.4 sodium channels. In the present study, a small German family with the known CaV1.1-R528G is described. The phenotype consists of short and infrequ…