DNA repair

Cornelia de Lange Syndrome Introduction Cornelia de Lange Syndrome is rare genetic disease it can affect multisystem disorder that has very serve intellectual disability starting at the time of 2nd trimester. The syndrome is often refer as also Brachmann de Lange syndrome or de Lange syndrome. Its most obvious symptoms are facial features such as body hair (hirsutism) with eyebrows that are arched and meet in midline (synophrys). This paper is inform the more detail about Cornelia de Lange…

more knowledge, identifying variations in the gene responsible for ichthyosis diseases. According to the American Association for the Advancement of Science (AAAS), "Biologists continue to hone their tools for deleting, replacing, or otherwise editing DNA and a strategy called Clustered regularly-interspaced short palindromic repeats (CRISPR) has become one of the most popular ways to do genome engineering" (Sciencemag.Org). In the meantime, there is some hope for ithchyosis' future parents who…

Neurofibromatosis Type 1 is the most frequent autosomal dominant neurogenesis disorder in the United States known today. Considering that school problems are the single most common complication of NF1 that effects the patients’ everyday learning environment entirely (Tonsgard 1, School Problems), neurofibromatosis is a severe genetic disorder that cannot be cured. Neurofibromatosis patients tend to obtain learning disabilities and developmental abnormalities due to brain tumors, attention…

In recent years MTHFR has been popularised in social media and blogs with various levels of information and potential misinformation. A search on google.com.au using the term “MTHFR” provided 1,330,000 results in 0.40 seconds.[1] With all of this different information being available 24 hours per day, all year round, it can be confusing for practitioners and patients to sift through to determine what is scientific, clinical or “hearsay”. 5,10-methylenetetrahydrofolate reductase (MTHFR)…

Hutchinson-Gilford Progeria Syndrome (HGPS) is a rare genetic mutation that causes children to age rapidly and die at a young age. “Progeria” is derived from Greek and translates to prematurely old. It is a mutation in the LMNA gene, which produces the Lamin A protein. The Lamin A protein is responsible for the support of the nucleus, In a HGPS free person, the nucleus produces Lamin A properly and is strong and stable, but in someone who has Progeria the cell produces progerin which makes the…

Birt-Hogg-Dubé syndrome also known as BHD is a hereditary disease first described in 1977. Name of the disease came after last name of the three Canadian doctors that found the disease, Arthur R. Birt, Georgina R. Hogg, and William J. Dubé. The BHD was discovered in 1977 association with the skin lesions, but the connection with the lungs and the kidneys were not found until 2002. BHD is an autosomal dominant genetic disorder that primarily affects the skin, lungs, and kidneys. Autosomal…

The development of thyroid cancer arises from mutations in either receptor tyrosine kinases or effectors involved in those pathways. In particular, papillary carcinomas generally have alterations in the mitogen-activated protein kinase pathway (MAPK). For example, RET stands for "rearranged during transfection." RET is expressed in high amounts from the C cells in the thyroid, and the RET proto-oncogene is activated by fusion of the RET TK domain with the 5′ sequence of one of different…

Cancer is a disease of mitosis that removes the stop points on the mitosis cell and keeps building many cells. It starts with a single cell which transforms into a cancer cell. When the cell turns into a cancer cell, it forms a mass group of cancer cells called a tumor. Different cancer cells forms different cancers. The p53 gene is usually to control the cell cycle ,but it is most often mutated in over 50 percent of all cancers. The BRCA1 gene is to help suppress the tumor formation, but if it…

question always arises, "Maybe I can do it myself?" Maybe indeed, unfortunately, the overwhelming fiction that surrounds many home repair jobs often quickly plunge the owner into blatant fear, running for the yellow pages and overpaying the lucky contractor whose company name is fortunate enough to begin with an A. The real truth behind "Do it yourself home repair" is often much less dramatic than most people would like to believe. In fact, if you can hold strong through the occasional harsh…

1.2 Cellular DNA Damage responses, genomic instability. DNA is the blue print of life and all the information of life processes such as growth, metabolism, reproduction etc are encoded in the sequence of it. Therefore its very important to maintain the genomic integrity of this genetic material, not only to keep away defects in life processes but to pass a faithful information to the next progeny. Integrity of the DNA is usually challenged by both endogenous and exogenous agents who are capable…