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David Goldstein (geneticist)
David Benjamin Goldstein is an American human geneticist. Goldstein is founding Director of the Institute for Genomic Medicine at the Columbia University Medical Center, Professor of Genetics and Development and directs the genomics core of Epi4K and administrative cores of Epi4K with Dan Lowenstein and Sam Berkovic. Education Goldstein received a Bachelors in biology from the University of California, Los Angeles. He then trained in theoretical population genetics at Stanford University (PhD 1994), where he worked with Marcus Feldman and Luca Cavalli Sforza. Career From 1996 to 1999, Goldstein was a lecturer at University of Oxford. He served as the Wolfson Professor of Genetics, University College London from 1999 to 2005. In 2005, Goldstein became the Richard and Pat Johnson Distinguished University Professor of Genetics, Microbiology, and Biology at Duke University. In 2014, he became the John E. Borne Professor of Medical and Surgical Research at Columbia University Medic ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
David Reich (geneticist)
David Emil Reich (born July 14, 1974) is an American geneticist known for the industrialization of research into the population genetics of ancient humans, including their migrations and the mixing of populations, discovered by analysis of genome-wide patterns of mutations. He is professor in the department of genetics at the Harvard Medical School, and an associate of the Broad Institute. Reich was highlighted as one of Nature's 10 for his contributions to science in 2015. He received the Dan David Prize in 2017, the NAS Award in Molecular Biology, the Wiley Prize, and the Darwin–Wallace Medal in 2019. In 2021 he was awarded the Massry Prize. He is the director of the David Reich Lab. Early life and education Reich grew up as part of a Jewish family in Washington, D.C. His parents are novelist Tova Reich (sister of Rabbi Avi Weiss) and Walter Reich, a professor at George Washington University, who served as the first director of the United States Holocaust Memoria ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
IL28B
Interferon lambda 3 (gene symbol: ''IFNL3)'' encodes the IFNL3 protein. ''IFNL3'' was formerly named ''IL28B'', but the Human Genome Organization Gene Nomenclature Committee renamed this gene in 2013 while assigning a name to the then newly discovered ''IFNL4'' gene. Together with ''IFNL1'' (formerly ''IL29'') and ''IFNL2'' (formerly ''IL28A''), these genes lie in a cluster on chromosomal region 19q13. IFNL3 shares ~96% amino-acid identity with IFNL2, ~80% identity with IFNL1 and ~30% identity with IFNL4. Interferon lambda genes encode cytokines classified as type III interferons, which are distantly related to type I interferons and the IL-10 family. Type III interferons are induced by viral infection and interact with a heterodimeric class II cytokine receptor that consists of interleukin 10 receptor, beta (IL10RB) and interferon lambda receptor 1 (IFNLR1) to signal via the JAK-STAT anti-viral pathway. rovided by RefSeq, Jul 2008 Hepatitis C In 2009 (i.e., before the dis ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Columbia University Faculty
Columbia most often refers to: * Columbia (personification), the historical personification of the United States * Columbia University, a private university in New York City * Columbia Pictures, an American film studio owned by Sony Pictures * Columbia Sportswear, an American clothing company * Columbia, South Carolina * Columbia, Missouri Columbia may also refer to: Places North America Natural features * Columbia Plateau, a geologic and geographic region in the U.S. Pacific Northwest * Columbia River, in Canada and the United States ** Columbia Bar, a sandbar in the estuary of the Columbia River ** Columbia Country, the region of British Columbia encompassing the northern portion of that river's upper reaches *** Columbia Valley, a region within the Columbia Country ** Columbia Lake, a lake at the head of the Columbia River *** Columbia Wetlands, a protected area near Columbia Lake ** Columbia Slough, along the Columbia watercourse near Portland, Oregon * Glacial Lake ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Living People
Purpose: Because living persons may suffer personal harm from inappropriate information, we should watch their articles carefully. By adding an article to this category, it marks them with a notice about sources whenever someone tries to edit them, to remind them of WP:BLP (biographies of living persons) policy that these articles must maintain a neutral point of view, maintain factual accuracy, and be properly sourced. Recent changes to these articles are listed on Special:RecentChangesLinked/Living people. Organization: This category should not be sub-categorized. Entries are generally sorted by family name In many societies, a surname, family name, or last name is the mostly hereditary portion of one's personal name that indicates one's family. It is typically combined with a given name to form the full name of a person, although several give .... Maintenance: Individuals of advanced age (over 90), for whom there has been no new documentation in the last ten ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
American Geneticists
American(s) may refer to: * American, something of, from, or related to the United States of America, commonly known as the "United States" or "America" ** Americans, citizens and nationals of the United States of America ** American ancestry, people who self-identify their ancestry as "American" ** American English, the set of varieties of the English language native to the United States ** Native Americans in the United States, indigenous peoples of the United States * American, something of, from, or related to the Americas, also known as "America" ** Indigenous peoples of the Americas * American (word), for analysis and history of the meanings in various contexts Organizations * American Airlines, U.S.-based airline headquartered in Fort Worth, Texas * American Athletic Conference, an American college athletic conference * American Recordings (record label), a record label that was previously known as Def American * American University The American University (AU or A ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Journal Of Medical Genetics
The ''Journal of Medical Genetics'' is a monthly peer-reviewed medical journal covering all aspects of medical genetics, including reviews of and opinion on the latest developments. It was established in 1964 and is published by the BMJ Group. The editor-in-chief is Huw Dorkins (University of Oxford). Abstracting and indexing The journal is abstracted and indexed in the Science Citation Index, BIOSIS Previews, Index Medicus/MEDLINE, Current Contents, Scopus, Embase, and CINAHL. According to the ''Journal Citation Reports'', the journal has a 2023 impact factor The impact factor (IF) or journal impact factor (JIF) of an academic journal is a type of journal ranking. Journals with higher impact factor values are considered more prestigious or important within their field. The Impact Factor of a journa ... of 3.6. References External links * BMJ Group academic journals Monthly journals Academic journals established in 1964 English-language journals Medical genetics jou ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
National Institutes Of Health
The National Institutes of Health (NIH) is the primary agency of the United States government responsible for biomedical and public health research. It was founded in 1887 and is part of the United States Department of Health and Human Services (HHS). Many 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 scientific research through the NIH Intramural Research Program (IRP) and provides significant 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 institution in the world, while, as of 2003, the extramural arm provided 28% of biomedical ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
National Institute Of Neurological Disorders And Stroke
The National Institute of Neurological Disorders and Stroke (NINDS) is a part of the U.S. National Institutes of Health (NIH). It conducts and funds research on brain and nervous system disorders and has a budget of just over US$2.03 billion. The mission of NINDS is "to reduce the burden of neurological disease—a burden borne by every age group, every segment of society, and people all over the world". NINDS has established two major branches for research: an extramural branch that funds studies outside the NIH, and an intramural branch that funds research inside the NIH. Most of NINDS' budget goes to fund extramural research. NINDS' basic science research focuses on studies of the fundamental biology of the brain and nervous system, genetics, neurodegeneration, learning and memory, motor control, brain repair, and synapses. NINDS also funds clinical research related to diseases and disorders of the brain and nervous system, e.g. AIDS, Alzheimer's disease, epilepsy, muscular dyst ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
American Association For The Advancement Of Science
The American Association for the Advancement of Science (AAAS) is a United States–based international nonprofit with the stated mission of promoting cooperation among scientists, defending scientific freedom, encouraging scientific responsibility, and supporting science education, scientific education and science outreach for the betterment of all humanity. AAAS was the first permanent organization established to promote science and engineering nationally and to represent the interests of American researchers from across all scientific fields. It is the world's largest general scientific society, with over 120,000 members, and is the publisher of the well-known scientific journal ''Science (journal), Science''. History Creation The American Association for the Advancement of Science was created on September 20, 1848, at the Academy of Natural Sciences in Philadelphia, Pennsylvania. It was a reformation of the Association of American Geologists and Naturalists with the broaden ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
NGLY1 Deficiency
NGLY1 deficiency is a very rare genetic disorder caused by autosomal recessive, biallelic pathogenic mutation, variants in ''NGLY1''. It is an autosomal recessive disorder. Errors in glycosylation, deglycosylation are responsible for the symptoms of this condition. Clinically, most affected individuals display developmental delay, Alacrima, lack of tears, elevated liver transaminases and a movement disorder. NGLY1 deficiency is difficult to diagnose, and most individuals have been identified by exome sequencing. NGLY1 deficiency causes a dysfunction in the endoplasmic reticulum-associated degradation pathway. ''NGLY1'' encodes an enzyme, N-glycanase 1, that cleaves N-linked glycosylation, N-glycans. Without N-glycanase, N-glycosylated proteins that are misfolded in the endoplasmic reticulum cannot be degraded, and thus accumulate in the cytoplasm of cells. Signs and symptoms Four common findings have been identified in a majority of patients: developmental delay or intellectua ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
ATP1A3
Sodium/potassium-transporting ATPase subunit alpha-3 is an enzyme that in humans is encoded by the ''ATP1A3'' gene. Function The protein encoded by this gene belongs to the family of P-type cation transport ATPases, and to the subfamily of Na+/K+-ATPases. Na+/K+-ATPase is an integral membrane protein responsible for establishing and maintaining the electrochemical gradients of Na and K ions across the plasma membrane. These gradients are essential for osmoregulation, for sodium-coupled transport of a variety of organic and inorganic molecules, and for electrical excitability of nerve and muscle. This enzyme is composed of two subunits, a large catalytic subunit (alpha) and a smaller glycoprotein subunit (beta). The catalytic subunit of Na+/K+-ATPase is encoded by multiple genes. This gene encodes an alpha 3 subunit. ATP1A3 is expressed early in human development, likely underlying pathophysiology related to several ATP1A3 related diseases. Clinical significance Diseas ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Institute For Genomic Medicine
An institute is an organizational body created for a certain purpose. They are often research organisations (research institutes) created to do research on specific topics, or can also be a professional body. In some countries, institutes can be part of a university or other institutions of higher education, either as a group of departments or an autonomous educational institution without a traditional university status such as a "university institute", or institute of technology. In some countries, such as South Korea and India, private schools are sometimes referred to as institutes; also, in Spain, secondary schools are referred to as institutes. Historically, in some countries, institutes were educational units imparting vocational training and often incorporating libraries, also known as mechanics' institutes. The word "institute" comes from the Latin word ''institutum'' ("facility" or "habit"), in turn derived from ''instituere'' ("build", "create", "raise" or "educat ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
