Search results for “Mutation”

About 51 results in articles

Open Access Pub publishes peer-reviewed, free-to-read open-access articles. Showing articles matching Mutation — open any to read the full text, or download the PDF or XML.

Ontogenes and the Problem of Speciation

Feb 2019 DOI 10.14302/issn.2689-4602.jes-18-2431
Boris F ChadovCorresponding author

The existing hypotheses on speciation rely on Mendelian genes and mutations in them. However, genome-wide sequencing demonstrates that the Mendelian genes account less than one-tenth of the entire genome DNA. This means that a greater part of the genome has not yet been subject to large-scale evolut…

The Anemone, The Porcupine: Hairy Cell Leukaemia

Nov 2018 DOI 10.14302/issn.2689-5773.jcdp-18-2435
Anubha BajajCorresponding author

Theobjective of reviewing Hairy Cell Leukaemia may be achieved by emphasising the condition as a category of chronic lymphocytic leukaemia with hair like protrusions of the cytoplasm situated on the aberrant B cell surface. An infrequent disorder, hairy cell leukaemia contributes an estimated 2% of…

Rice Epigenetic Pathways: Great Genetic Variation and Implication for Rapid Rice Breeding

Sep 2018 DOI 10.14302/issn.2641-9467.jgrc-18-2270
Yuan LiCorresponding author

Rice, as one of the most important crops in the world, is facing an ever-accelerating challenge from climate change. Epigenetic modification with its substantially high epimutation rate and the possibility for some epigenetic variation to act as a heritable contributor to crop environmental adaptabi…

Molecular and Cell Biological Considerations in the Initiation and Development of Sporadic Non-Hereditary Solid Cancers  

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…

Human Proteome Project and Current Bioinformatics Status in Disease Diagnosis and Treatment

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…

Dimerization of the BASIC PENTACYSTEINE Domain in Plant GAGA-Factors is Mediated by Disulfide Bonds and Required for DNA-Binding.

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…

Thymic Hypertrophy and Sudden Unexpected Death In Adults –A Retrospective Study Of 56 Autopsy Cases

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…

Functional, Structural and Contextual Analysis of a Variant of Uncertain Clinical Significance in BRCA1: c.5434C->G (p. Pro1812Ala)

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…

Fast Screening Method for Polymorphisms in Exon 9 of the Catalase Gene.

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…

Medullary Thyroid Cancer: Is the Adequacy of Pre-Operative Evaluation Influenced by Training Background?

May 2015 DOI 10.14302/issn.2574-4496.jtc-14-395
Amal AlhefdhiCorresponding author

Background: Medullary Thyroid Cancer (MTC) is a rare malignancy, accounting for less than 3% of all thyroid cancers and causes significant morbidity and mortality. MTC is often due to an underlying mutation of the RET proto-oncogene, which can result in additional endocrinopathies that must be scree…

Understanding Ubl-Rpn1 Intermolecular Interaction

Jun 2014 DOI 10.14302/issn.2328-0182.japst-13-288
N. PradhanCorresponding author

ALS is the neurodegenerative disease which is caused due to breakdown in interaction between UBL and rpn1. In this study, we explore the interaction of UBL and rpn1 which is involved in protein degradation. Protein recycling system plays a crucial role in degradation of deformed or damaged proteins.…

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