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:10/22/2014)... Aware, Inc. (NASDAQ: AWRE ), a ... results for its third quarter ended September 30, 2014. ... million, an increase of 40% compared to $4.3 million in ... quarter of 2014 was $4.1 million compared to $1.0 million ... the current three month period was primarily due to: i) ...
(Date:10/18/2014)... suspected genetic conditions, a certain type of exome sequencing ... than traditional molecular diagnostic methods, according to a study ... released to coincide with the American Society of Human ... protein­coding region of the genome (the complete set of ... organism), has been rapidly applied in research settings and ...
(Date:10/17/2014)... is available in German . ... very few drugs. When treating overdoses, doctors are often limited ... difficult if there is a combination of drugs involved. So ... accidentally swallows his grandmother,s pills? ETH professor Jean-Christophe Leroux from ... find an answer to this question. "The task was to ...
Breaking Biology News(10 mins):Aware, Inc. Reports Third Quarter 2014 Financial Results 2Aware, Inc. Reports Third Quarter 2014 Financial Results 3Aware, Inc. Reports Third Quarter 2014 Financial Results 4Aware, Inc. Reports Third Quarter 2014 Financial Results 5Aware, Inc. Reports Third Quarter 2014 Financial Results 6Aware, Inc. Reports Third Quarter 2014 Financial Results 7Study examines type of exome sequencing and molecular diagnostic yield 2Study examines type of exome sequencing and molecular diagnostic yield 3Emergency aid for overdoses 2Emergency aid for overdoses 3
(Date:10/20/2014)... Inc. (NASDAQ: GNVC ) today announced the retirement ... of directors effective on October 24, 2014.   Dr. Horovitz joined ... chairman from June 2006 to November 2013.  During his tenure, ... Audit Committees of the board.  "We deeply ... to GenVec, and its stockholders," said Wayne T. Hockmeyer ...
(Date:10/20/2014)... Local veterinary surgeon, Dr. Tim McCarthy ... of donor stem cells for dogs with osteoarthritis. Dr. ... has performed clinical stem cell therapy for 7 years. ... if a single injection of donor stem cells into ... pain and inflammation in the treated joints. , ...
(Date:10/19/2014)... 19, 2014 The Asia-Pacific Bromine ... in Asia-Pacific with analysis and forecast of revenue. ... Pacific Bromine Market report, to get an idea ... a glimpse of the segmentation in the Asia-Pacific ... and figures. , http://www.micromarketmonitor.com/market/asia-pacific-bromine-6741503144.html , ...
(Date:10/19/2014)... 19, 2014 The Asian Orthopedic braces and ... Asia with analysis and forecast of revenue. The Orthopedic braces ... to around $416.5 million by 2018, at a developing CAGR ... TOC of the Asian Orthopedic braces and support systems market, ... also provides a glimpse of the segmentation of orthopedic braces ...
Breaking Biology Technology:Zola P. Horovitz To Retire From GenVec Board 2Cascade Veterinary Referral Center Seeks Candidates for an Investigational Study of Stem Cells for Dogs with Arthritis 2The Asia-Pacific Bromine Market is estimated to grow to $4,080.1 million by 2018 - New Report by MicroMarket Monitor 2The Asia-Pacific Bromine Market is estimated to grow to $4,080.1 million by 2018 - New Report by MicroMarket Monitor 3The Asian Orthopedic braces and support systems market is estimated to grow to around $416.5 million by 2018 - New Report by MicroMarket Monitor 2The Asian Orthopedic braces and support systems market is estimated to grow to around $416.5 million by 2018 - New Report by MicroMarket Monitor 3The Asian Orthopedic braces and support systems market is estimated to grow to around $416.5 million by 2018 - New Report by MicroMarket Monitor 4
Cached News: