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Barbara Migeon
Barbara Ruben Migeon (born July 31, 1931) is a professor at the Johns Hopkins University Institute of Genetic Medicine. She founded the Johns Hopkins program in Human Genetics and Molecular Biology. Migeon is the author of ''Females are Mosaics: X inactivation and sex differences in disease''. She was awarded the American College of Medical Genetics and Genomics Dimes/Colonel Harland D. Sanders Lifetime Achievement Award in 2016. Early life and education Migeon was born in Rochester, New York. Her parents were born to Russian immigrants, and her father was a general practitioner. Migeon was inspired by his enthusiasm for his job, and he encouraged her to study medicine. Her father saw patients at the family home, as well as making home visits. She was a student at Smith College where she majored in pre-medical science. She has said that this was the first time she saw women "do everything". Migeon was rejected from the University of Rochester School of Medical and later found o ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
University Of Buffalo
The State University of New York at Buffalo, commonly called the University at Buffalo (UB) and sometimes called SUNY Buffalo, is a public research university with campuses in Buffalo and Amherst, New York. The university was founded in 1846 as a private medical college and merged with the State University of New York system in 1962. It is one of the two flagship institutions of the SUNY system. As of fall 2020, the university enrolled 32,347 students in 13 schools and colleges, making it the largest and most comprehensive public university in the state of New York. Since its founding by a group which included future United States President Millard Fillmore, the university has evolved from a small medical school to a large research university. Today, in addition to the College of Arts and Sciences, the university houses the largest state-operated medical school, dental school, education school, business school, engineering school, and pharmacy school, and is also home to SUNY ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
National Institutes Of Health
The National Institutes of Health, commonly referred to as NIH (with each letter pronounced individually), is the primary agency of the United States government responsible for biomedical and public health research. It was founded in the late 1880s and is now part of the United States Department of Health and Human Services. The majority of NIH facilities are located in Bethesda, Maryland, and other nearby suburbs of the Washington metropolitan area, with other primary facilities in the Research Triangle Park in North Carolina and smaller satellite facilities located around the United States. The NIH conducts its own scientific research through the NIH Intramural Research Program (IRP) and provides major biomedical research funding to non-NIH research facilities through its Extramural Research Program. , the IRP had 1,200 principal investigators and more than 4,000 postdoctoral fellows in basic, translational, and clinical research, being the largest biomedical research instit ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Mosaic (genetics)
Mosaicism or genetic mosaicism is a condition in multicellular organisms in which a single organism possesses more than one genetic line as the result of genetic mutation. This means that various genetic lines resulted from a single fertilized egg. Genetic mosaics may often be confused with chimerism, in which two or more genotypes arise in one individual similarly to mosaicism. In chimerism, though, the two genotypes arise from the fusion of more than one fertilized zygote in the early stages of embryonic development, rather than from a mutation or chromosome loss. Genetic mosaicism can result from many different mechanisms including chromosome nondisjunction, anaphase lag, and endoreplication. Anaphase lagging is the most common way by which mosaicism arises in the preimplantation embryo. Mosaicism can also result from a mutation in one cell during development, in which case the mutation will be passed on only to its daughter cells (and will be present only in certain adult ce ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Hypoxanthine-guanine Phosphoribosyltransferase
Hypoxanthine-guanine phosphoribosyltransferase (HGPRT) is an enzyme encoded in humans by the ''HPRT1'' gene. HGPRT is a transferase that catalyzes conversion of hypoxanthine to inosine monophosphate and guanine to guanosine monophosphate. This reaction transfers the 5-phosphoribosyl group from 5-phosphoribosyl 1-pyrophosphate (PRPP) to the purine. HGPRT plays a central role in the generation of purine nucleotides through the purine salvage pathway. Function HGPRT catalyzes the following reactions: HGPRTase functions primarily to salvage purines from degraded DNA to reintroduce into purine synthetic pathways. In this role, it catalyzes the reaction between guanine and phosphoribosyl pyrophosphate (PRPP) to form GMP, or between hypoxanthine and phosphoribosyl pyrophosphate (PRPP) to form inosine monophosphate. Substrates and inhibitors Comparative homology modelling of this enzyme in '' L. donovani'' suggest that among all of the computationally screened compounds, p ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
X Chromosome
The X chromosome is one of the two sex-determining chromosomes (allosomes) in many organisms, including mammals (the other is the Y chromosome), and is found in both males and females. It is a part of the XY sex-determination system and XO sex-determination system. The X chromosome was named for its unique properties by early researchers, which resulted in the naming of its counterpart Y chromosome, for the next letter in the alphabet, following its subsequent discovery. Discovery It was first noted that the X chromosome was special in 1890 by Hermann Henking in Leipzig. Henking was studying the testicles of ''Pyrrhocoris'' and noticed that one chromosome did not take part in meiosis. Chromosomes are so named because of their ability to take up staining (''chroma'' in Greek means ''color''). Although the X chromosome could be stained just as well as the others, Henking was unsure whether it was a different class of object and consequently named it ''X element'', which later be ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Tsix
Tsix is a non-coding RNA gene that is antisense to the Xist RNA. Tsix binds Xist during X chromosome inactivation. The name Tsix comes from the reverse of Xist, which stands for X-inactive specific transcript. Background Female mammals have two X chromosomes and males have one X and one Y chromosome. The X chromosome has many active genes. This leads to dosage compensation problems: the two X chromosomes in the female will create twice as many gene products as the one X in the male. To mitigate this, one of the X chromosomes is inactivated in females, so that each sex only has one set of X chromosome genes. The inactive X chromosome in cells of females is visible as a Barr body under the microscope. Males do not have Barr bodies, as they only have one X chromosome. Xist is only expressed from the future inactive X chromosome in females and is able to "coat" the chromosome from which it was produced. Many copies of Xist RNA bind the future inactivated X chromosome. Tsix preven ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
X-inactivation
X-inactivation (also called Lyonization, after English geneticist Mary Lyon) is a process by which one of the copies of the X chromosome is inactivated in therian female mammals. The inactive X chromosome is silenced by being packaged into a transcriptionally inactive structure called heterochromatin. As nearly all female mammals have two X chromosomes, X-inactivation prevents them from having twice as many X chromosome gene products as males, who only possess a single copy of the X chromosome (see dosage compensation). The choice of which X chromosome will be inactivated in a particular embryonic cell is random in placental mammals such as humans, but once an X chromosome is inactivated it will remain inactive throughout the lifetime of the cell and its descendants in the organism (its cell line). The result is that the choice of inactivated X chromosome in all the cells of the organism is a random distribution, often with about half the cells having the paternal X chromos ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
G6PD
Glucose-6-phosphate dehydrogenase (G6PD or G6PDH) () is a cytosolic enzyme that catalyzes the chemical reaction : D-glucose 6-phosphate + NADP+ + H2O 6-phospho-D-glucono-1,5-lactone + NADPH + H+ This enzyme participates in the pentose phosphate pathway (see image), a metabolic pathway that supplies reducing energy to cells (such as erythrocytes) by maintaining the level of the co-enzyme nicotinamide adenine dinucleotide phosphate (NADPH). The NADPH in turn maintains the level of glutathione in these cells that helps protect the red blood cells against oxidative damage from compounds like hydrogen peroxide. Of greater quantitative importance is the production of NADPH for tissues involved in biosynthesis of fatty acids or isoprenoids, such as the liver, mammary glands, adipose tissue, and the adrenal glands. G6PD reduces NADP+ to NADPH while oxidizing glucose-6-phosphate. Glucose-6-phosphate dehydrogenase is also an enzyme in the Entner–Doudoroff pathway, a type of glycolysis ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Mary F
Mary may refer to: People * Mary (name), a feminine given name (includes a list of people with the name) Religious contexts * New Testament people named Mary, overview article linking to many of those below * Mary, mother of Jesus, also called the Blessed Virgin Mary * Mary Magdalene, devoted follower of Jesus * Mary of Bethany, follower of Jesus, considered by Western medieval tradition to be the same person as Mary Magdalene * Mary, mother of James * Mary of Clopas, follower of Jesus * Mary, mother of John Mark * Mary of Egypt, patron saint of penitents * Mary of Rome, a New Testament woman * Mary, mother of Zechariah and sister of Moses and Aaron; mostly known by the Hebrew name: Miriam * Mary the Jewess one of the reputed founders of alchemy, referred to by Zosimus. * Mary 2.0, Roman Catholic women's movement * Maryam (surah) "Mary", 19th surah (chapter) of the Qur'an Royalty * Mary, Countess of Blois (1200–1241), daughter of Walter of Avesnes and Margaret of Blois * ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Telomere
A telomere (; ) is a region of repetitive nucleotide sequences associated with specialized proteins at the ends of linear chromosomes. Although there are different architectures, telomeres, in a broad sense, are a widespread genetic feature most commonly found in eukaryotes. In most, if not all species possessing them, they protect the terminal regions of chromosomal DNA from progressive degradation and ensure the integrity of linear chromosomes by preventing DNA repair systems from mistaking the very ends of the DNA strand for a double-strand break. Discovery In the early 1970s, Soviet theorist Alexei Olovnikov first recognized that chromosomes could not completely replicate their ends; this is known as the "end replication problem". Building on this, and accommodating Leonard Hayflick's idea of limited somatic cell division, Olovnikov suggested that DNA sequences are lost every time a cell replicates until the loss reaches a critical level, at which point cell division end ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Chromosome 13
Chromosome 13 is one of the 23 pairs of chromosomes in humans. People normally have two copies of this chromosome. Chromosome 13 spans about 114 million base pairs (the building material of DNA) and represents between 3.5 and 4% of the total DNA in cells. Genes Number of genes The following are some of the gene count estimates of human chromosome 13. Because researchers use different approaches to genome annotation their predictions of the number of genes on each chromosome varies (for technical details, see gene prediction). Among various projects, the collaborative consensus coding sequence project ( CCDS) takes an extremely conservative strategy. So CCDS's gene number prediction represents a lower bound on the total number of human protein-coding genes. Gene list The following is a partial list of genes on human chromosome 13. For complete list, see the link in the infobox on the right. Diseases and disorders The following diseases and disorders are some of those rel ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Human Genetics
Human genetics is the study of inheritance as it occurs in human beings. Human genetics encompasses a variety of overlapping fields including: classical genetics, cytogenetics, molecular genetics, biochemical genetics, genomics, population genetics, developmental genetics, clinical genetics, and genetic counseling. Genes are the common factor of the qualities of most human-inherited traits. Study of human genetics can answer questions about human nature, can help understand diseases and the development of effective treatment and help us to understand the genetics of human life. This article describes only basic features of human genetics; for the genetics of disorders please see: medical genetics. Genetic differences and inheritance patterns Inheritance of traits for humans are based upon Gregor Mendel's model of inheritance. Mendel deduced that inheritance depends upon discrete units of inheritance, called factors or genes. Autosomal dominant inheritance Autosomal tr ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
