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Physician-authored summaries on the latest research on genetics, editorials on genetics, and perspectives on genetics - drawn from the top medical journals.
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MicroRNAs Play Central Role in Cancer
- July 8, 2005
- Anthony L. Komaroff, MD
- General Medicine
MicroRNAs (miRNAs) are very small RNAs that control the expression of genes by attaching to a specific part of messenger RNA, thereby silencing the messenger . . .- Reviewing:
- Lu J et al., Nature 2005 Jun 9; 435:834-8. He L et al., Nature 2005 Jun 9; 435:828-33. O’Donnell KA et al., Nature 2005 Jun 9; 435:839-43. Meltzer PS., Nature 2005 Jun 9; 435:745-6.
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Genetics, Breast Density, and Breast Cancer
- October 1, 2002
- Allan S. Brett, MD
- General Medicine
Results of this twin study demonstrated that genetics play a significant role in development of dense breast tissue.- Reviewing:
- Boyd NF et al., N Engl J Med 2002 Sep 19; 347:886-94.
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Osteoporotic Fractures: Genetics Plays a Minor Role
- December 17, 1999
- KI Marton
- General Medicine
There are several well-known modifiable risk factors for osteoporotic fractures, but what role do genetic factors play? To address this question, Finnish investigators performed this . . .- Reviewing:
- Kannus P et al., BMJ 1999 Nov 20; 319:
1334 1337 .
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GENETICS EVOLVES FROM BASIC SCIENCE TO MEDICAL SPECIALTY.
- December 3, 1993
- THL
- General Medicine
Several advances indicating the arrival of molecular medicine are presented in an issue of JAMA devoted to molecular genetics.- Reviewing:
- Babul R et al., JAMA 1993 Nov 17; 270:
2321 2325 . MacColin M et al., JAMA 1993 Nov 17; 270:2316 2320 . Kaback M et al., JAMA 1993 Nov 17; 270:2307 2315 .
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SOLID EVIDENCE THAT GENETICS STRONGLY INFLUENCES BODY WEIGHT.
- May 25, 1990
- ALK
- General Medicine
A "nature vs. nurture" controversy has raged with regard to body weight and obesity. In recent years, the evidence that genetics ("nature") is of great . . .- Reviewing:
- Sims EAH., N Engl J Med 1990 May 24; 322:
1522 1524 . Stunkard AJ et al., N Engl J Med 1990 May 24; 322:1483 1487 . Bouchard C et al., N Engl J Med 1990 May 24; 322:1477 1482 .
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New Insights into the Biology of Metastasis
- January 31, 2012
- Anthony L. Komaroff, MD
- General Medicine
Cancer stem cells and endothelial signaling might point to novel therapies.- Reviewing:
- Malanchi I et al., Nature 2012 Jan 5; 481:85. Png KJ et al., Nature 2012 Jan 12; 481:190.
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Predicting Clinical Response to Clopidogrel — Does Genetic Testing Help?
- September 27, 2011
- Kirsten E. Fleischmann, MD, MPH
- General Medicine
The value of routine genetic testing is in doubt.- Reviewing:
- Bauer T et al., BMJ 2011 Aug 4; 343:d4588. Holmes MV et al., BMJ 2011 Aug 4; 343:d4953.
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Potential Problems with Induced Pluripotent Stem Cells
- March 29, 2011
- Anthony L. Komaroff, MD
- General Medicine
iPS cells have potential for treating disease, but we need to overcome some of their innate problems.- Reviewing:
- Hussein SM et al., Nature 2011 Mar 3; 471:58. Gore A et al., Nature 2011 Mar 3; 471:63. Lister R et al., Nature 2011 Mar 3; 471:68. Pera MF., Nature 2011 Mar 3; 471:46.
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Molecular Connections Between Telomeres, Mitochondria, and Diseases of Aging
- March 17, 2011
- Anthony L. Komaroff, MD
- General Medicine
Three molecules link telomere shortening and mitochondrial dysfunction.- Reviewing:
- Sahin E et al., Nature 2011 Feb 17; 470:359.
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New Insights into Genetics of Pancreatic Cancer
- November 9, 2010
- Anthony L. Komaroff, MD
- General Medicine
A unique genetic signature might be the key to earlier detection.- Reviewing:
- Campbell PJ et al., Nature 2010 Oct 28; 467:1109. Yachida S et al., Nature 2010 Oct 28; 467:1114. Luebeck EG., Nature 2010 Oct 28; 467:1053.
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More Evidence That Oxytocin Affects Human Behavior
- December 17, 2009
- Anthony L. Komaroff, MD
- General Medicine
A single base change in the gene for this 9-amino-acid peptide can affect empathy.- Reviewing:
- Rodrigues SM et al., Proc Natl Acad Sci U S A 2009 Dec 15; 106:21437.
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Mutation Shortens Length of Sleep
- September 10, 2009
- Anthony L. Komaroff, MD
- General Medicine
Investigators examined a genetic component of sleep duration.- Reviewing:
- He Y et al., Science 2009 Aug 14; 325:866.
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Previously Unknown Protein Contributes to Huntington Disease
- June 30, 2009
- Anthony L. Komaroff, MD
- General Medicine
Although the mutant protein that causes HD is known, targeting it is difficult; a newly discovered cofactor might be an easier goal.- Reviewing:
- Subramaniam S et al., Science 2009 Jun 5; 324:1327.
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Genetic Polymorphisms and Alcohol-Related Cancers
- February 26, 2009
- Richard Saitz, MD, MPH, FACP, FASAM
- General Medicine
Polymorphisms in alcohol-processing enzymes contribute to cancer risk in moderate or heavy drinkers.
CME Exam- Reviewing:
- Druesne-Pecollo N et al., Lancet Oncol 2009 Feb; 10:173.
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Gene Variants Affect Metabolism of Clopidogrel — And Clinical Outcomes
- January 6, 2009
- Anthony L. Komaroff, MD
- General Medicine
Alleles that lower metabolism of clopidogrel also are linked to adverse cardiovascular outcomes.- Reviewing:
- Mega JL et al., N Engl J Med 2008 Dec 22;: Simon T et al., N Engl J Med 2008 Dec 22;: Collet J-P et al., Lancet 2008 Dec 23;:
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Inherited Polymorphism Protects American Blacks from Progressive Heart Failure
- June 12, 2008
- Anthony L. Komaroff, MD
- General Medicine
A polymorphism in GRK5 acts as a genetic ß-blocker.- Reviewing:
- Liggett SB et al., Nat Med 2008 May; 14:510. Eschenhagen T., Nat Med 2008 May; 14:485.
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Fragile X Allele Testing: When Is Prenatal Testing Indicated?
- April 10, 2008
- Robert W. Rebar, MD
- General Medicine
These study results suggest that invasive prenatal diagnosis (typically by amniocentesis) to detect fragile X syndrome in the fetus is warranted only in pregnant women with fragile X alleles containing ≥55 CGG repeats.- Reviewing:
- Cronister A et al., Obstet Gynecol 2008 Mar; 111:596.
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What Is the Penetrance of Hereditary Hemochromatosis? Free
- January 16, 2008
- Allan S. Brett, MD
- General Medicine
About one quarter of older men who were homozygous for the HFE C282Y mutation had clinically evident disease.- Reviewing:
- Allen KJ et al., N Engl J Med 2008 Jan 17; 358:221.
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Possible Genetic Causes for Preterm Birth
- January 2, 2007
- Robert W. Rebar, MD
- General Medicine
The risk is linked with genetic polymorphisms.- Reviewing:
- Murtha AP et al., Am J Obstet Gynecol 2006 Nov; 195:1249-53. Engel SM et al., Am J Obstet Gynecol 2006 Nov; 195:1231.e1-11.
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Discovery of Molecule Important in Stem Cell Aging and Cancer
- October 10, 2006
- Anthony L. Komaroff, MD
- General Medicine
Studies in mice show that the protein p16INK4a is produced by stem cells in increasing amounts with age, and that it reduces proliferation of those cells.- Reviewing:
- Janzen V et al., Nature 2006 Sep 6;: Molofsky AV et al., Nature 2006 Sep 6;: Krishnamurthy J et al., Nature 2006 Sep 6;:
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