HOME >> BIOLOGY >> NEWS
Basis of rare genetic illness leads to better understanding of bone formation, Hopkins researchers find

e research team examined 18 unrelated individuals diagnosed with POH. All study participants had relatives who had also been diagnosed with POH. Sequenced DNA showed that of the 18 study participants, 13 possessed one mutant copy of the GNAS1 gene. The prevalence of the GNAS1 mutation was high enough to implicate the gene as a major cause of POH, though other factors may contribute, researchers concluded.

Patients diagnosed with POH develop spontaneous bone fragments under the skin and deep inside their bodies throughout life. The lesions caused by POH can be identified, leading to diagnosis soon after birth. Levine estimates one of every 100,000 individuals is affected by the disorder.


'"/>

Contact: David Bricker
dbricker@jhmi.edu
410-223-1728
Johns Hopkins Medical Institutions
9-Jan-2002


Page: 1 2

Related biology news :

1. UCSF-Led Team Offers New Insight Into Neurological Basis Of Dyslexia
2. IUPAC, IUPHAR, And IUTOX Publish A Report On Natural And Anthropogenic Environmental Oestrogens: The Scientific Basis For Risk Assessment
3. Reversible Process For Forming Supramolecular Polymers Could Be The Basis Of Fibers, Molecular Transport Mechanisms
4. UCSD And NIH Researchers Isolate Candidates For Genetic Basis Of Human Taste
5. Old Bone Collection Reveals Basis For Some Dizziness
6. Insurance Industry Discriminates Unfairly On Basis Of Genetic Information
7. Molecular Basis Of Leading Genetic Cause Of Infant Death Discovered
8. Adaptations Basis May Be A Mix Of Genetic Tweaks, Whoppers
9. The Genetic Basis Of Childhood Schizophrenia
10. Hormone Control Of Rare Leukemia Sheds Light On Molecular Basis Of Cancer
11. New Description Of Protein May Be Basis For Regulating Cholesterol

Post Your Comments:
(Date:8/28/2014)... , Aug. 28, 2014  Privacy Advocate and ... Jennifer Lynch , joins the lineup of biometric ... second annual Biometrics UnPlugged Executive Summit in ... Previously announced speakers include Steven Rahman, Director, Technology ... Public Sector at Experian. The theme of this year,s ...
(Date:8/28/2014)... Philadelphia, PA, August 28, 2014 Dyslexia, the ... States, is a neurological reading disability that occurs ... written language don,t function normally. , The use ... how brain activity is disrupted in dyslexia. However, ... small number of brain regions, leaving a gap ...
(Date:8/28/2014)... northern California, and Alaska totaled 515 million board feet ... increase of more than 10 percent compared to the ... Northwest Research Station reported today. During this same period, ... 247 million board feet. , The total value of ... to $390 million in the same quarter, while the ...
Breaking Biology News(10 mins):Biometrics UnPlugged Welcomes the Electronic Frontier Foundation's Jennifer Lynch to the Mobility at the Crossroads of Commerce and Privacy Summit 2Dyslexic readers have disrupted network connections in the brain 2West coast log exports up, lumber exports down in second quarter of 2014 2
(Date:8/29/2014)... PA (PRWEB) August 29, 2014 Pittcon ... Hub MacDonald, and colleague Koichiro Matsuda, Horiba Scientific, have ... on September 5, 2014. JASIS , Asia’s largest ... 3-5, 2014, in Makuhari Messe, Japan. , The ... Tools for Bioanalysis from Single Molecules to Single Cells” ...
(Date:8/29/2014)... Three Lawrence Livermore researchers have ... Production R&D Award for their research in ... sunlight. , Shared with collaborators from the National ... Nevada, Las Vegas (UNLV), the award recognizes the ... solar-hydrogen production and corrosion processes. , These models ...
(Date:8/29/2014)... August 29, 2014 Intrinsic Imaging, ... certified, GAMP® 5 compliant imaging core lab, announced ... Phase II clinical trial to assess a new ... this trial, Intrinsic Imaging will provide comprehensive imaging ... protocol and charter development, site qualification, site training ...
(Date:8/28/2014)... Ca. (PRWEB) August 28, 2014 Best ... rating for an alcohol-based hand sanitizer, asks food processors ... by comparing the hand sanitizer they’re currently using to ... . Hand hygiene is critical to fighting cross-contamination and ... Best Sanitizers believes there are key criteria that ...
Breaking Biology Technology:Fifth Annual U.S. Symposium at JASIS Organized by Pittcon’s Program Chairman Hub MacDonald 2Livermore Team Awarded for Hydrogen Production Research 2Intrinsic Imaging Awarded Phase II Clinical Trial to Assess New Treatment for Non-Hodgkin’s Lymphoma 2Food Processors and Food Handlers are Encouraged to Prepare for Fall Harvest by Evaluating Their Current Hand Sanitizer Using Nine Key Criteria 2Food Processors and Food Handlers are Encouraged to Prepare for Fall Harvest by Evaluating Their Current Hand Sanitizer Using Nine Key Criteria 3
Cached News: