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β-Glucocerebrosidase (also called acid β-glucosidase, D-glucosyl-N-acylsphingosine glucohydrolase, or GCase) is an enzyme with glucosylceramidase activity (EC 3.2.1.45) that cleaves by hydrolysis the β-glycosidic linkage of the chemical glucocerebroside, an intermediate in glycolipid metabolism that is abundant in cell membranes ...
The following is a list of genetic disorders and if known, type of mutation and for the chromosome involved. Although the parlance "disease-causing gene" is common, it is the occurrence of an abnormality in the parents that causes the impairment to develop within the child. There are over 6,000 known genetic disorders in humans.
Victor Frank and his wife Marsha, unable to have a second child due to Marsha's infertility, turn to surrogacy as an alternate method of conception. Victor, an obstetrician-gynaecologist and owner of the biochemical company Chimera Inc., injects the egg implanted in his wife with an agent called Nerve Growth Factor (NGF) into chromosome six, which causes the baby to grow more neurons than ...
The enzyme is a 55.6-kilodalton, 497-amino acid-long protein that catalyses the breakdown of glucocerebroside, a cell membrane constituent of red and white blood cells. In Gaucher disease, the enzyme is unable to function correctly and glucocerebroside accumulates.
Types of mutations that can be introduced by random, site-directed, combinatorial, or insertional mutagenesis. In molecular biology, mutagenesis is an important laboratory technique whereby DNA mutations are deliberately engineered to produce libraries of mutant genes, proteins, strains of bacteria, or other genetically modified organisms. The ...
This study showcases the intricacy of genetic architecture by providing an example of many different SNPs and mutations working together, each with a varying effect, to generate a given phenotype. Other studies regarding genetic architecture are many and varied, but most use similar types of analyses to provide specific information regarding ...
The Journey of Man: A Genetic Odyssey is a 2002 book by Spencer Wells, an American geneticist and anthropologist, in which he uses techniques and theories of genetics and evolutionary biology to trace the geographical dispersal of early human migrations out of Africa. The book was made into a TV documentary in 2003.
The 16 possible mutation types of the substitution class C>A are shown as an example. Once the mutation catalog (e.g. counts for each of the 96 mutation types) of a tumor is obtained, there are two approaches to decipher the contributions of different mutational signatures to tumor genomic landscape: