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David B. 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 Med ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
David Reich (geneticist)
David Emil Reich (born July 14, 1974) is an American geneticist known for his 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. Early life 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 Memorial Museum. David Reich started out as a sociology major as an undergraduate at Harvard Coll ... [...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 D ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Columbia University Faculty
Columbia may refer to: * Columbia (personification), the historical female national personification of the United States, and a poetic name for America 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 Columbia, a proglacial lake in Washington state * Columbia Icefield, in the Canadian Rockies * Columbia Island (District of Columbia), in the Potomac River * Columbia Island (New York), in Long Island Sound Populated plac ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Living People
Related categories * :Year of birth missing (living people) / :Year of birth unknown * :Date of birth missing (living people) / :Date of birth unknown * :Place of birth missing (living people) / :Place of birth unknown * :Year of death missing / :Year of death unknown * :Date of death missing / :Date of death unknown * :Place of death missing / :Place of death unknown * :Missing middle or first names See also * :Dead people * :Template:L, which generates this category or death years, and birth year and sort keys. : {{DEFAULTSORT:Living people 21st-century people People by status ... [...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 previously known as Def American * American University, in Washington, D.C. Sports teams Soccer ... [...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 2020 impact factor The impact factor (IF) or journal impact factor (JIF) of an academic journal is a scientometric index calculated by Clarivate that reflects the yearly mean number of citations of articles published in the last two years in a given journal, as ... of 6.318. References External links * BMJ Group academic journals Monthly journals Publications established in 1964 English-language journals Medical genetics journa ... [...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 ins ... [...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 dystr ... [...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 an American international non-profit organization with the stated goals of promoting cooperation among scientists, defending scientific freedom, encouraging scientific responsibility, and supporting scientific education and science outreach for the betterment of all humanity. 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''. 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. The society chose William Charles Redfield as their first president because he had proposed the most comprehensive plans for the organization. According to the first constitution which was agreed to at the September 20 meeting, the goal ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
NGLY1 Deficiency
NGLY1 deficiency is a very rare genetic disorder caused by biallelic pathogenic variants in ''NGLY1''. It is an autosomal recessive disorder. Errors in deglycosylation are responsible for the symptoms of this condition. Clinically, most affected individuals display developmental delay, 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-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 intellectual disability of varying degrees, lack of or greatly reduced tears, eleva ... [...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. RefSeq.html"_;"title="rovided_by_RefSeq">rovided_by_RefSeq,_Jul_2008 __ ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Columbia University Medical Center
NewYork-Presbyterian/Columbia University Irving Medical Center (NYP/CUIMC), also known as the Columbia University Irving Medical Center (CUIMC), is an academic medical center and the largest campus of NewYork-Presbyterian Hospital. It includes Columbia University Vagelos College of Physicians and Surgeons, College of Dental Medicine, School of Nursing and Mailman School of Public Health, as well as the Morgan Stanley Children's Hospital, the New York State Psychiatric Institute, the Audubon Biomedical Research Park, and other institutions. The campus covers several blocks—primarily between West 165th and 169th Streets from Riverside Drive to Audubon Avenue—in the Washington Heights neighborhood of Manhattan, New York City. History CUIMC was built in the 1920s on the site of Hilltop Park, the one-time home stadium of the New York Yankees. The land was donated by Edward Harkness, who also donated most of the financing for the original buildings. Built specifically t ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
