Navigation Links
Researchers Discover Gene For Rare Skin Disorder

WASHINGTON, June 20, 2007-Researchers funded in part by the National Institutes of Health have identified the gene that accounts for most cases of Goltz syndrome, a rare skin disorder that can also affect bone and eye development.

The cases appear to result from a defect in the gene known as PORCN, which contains the information needed to make a protein, referred to by researchers as porcupine. The Porcupine protein, which was first identified in fruit flies, was named for the pattern of spikes projecting from skin cells of the larval flys body, bearing a resemblance to the quills of a porcupine.

The researchers believe mutations in the PORCN gene cause at least 75 percent of Goltz syndrome cases.

Identifying a genetic mutation for Goltz syndrome is a critical first step in understanding and eventually treating the condition, said Duane Alexander, director of the National Institute of Child Health and Human Development, the NIH institute that provided funding for the Mental Retardation and Developmental Disabilities Research Center at Baylor College of Medicine, where the study was conducted.

The study was lead jointly by Xiaoling Wang, Department of Obstetrics and Gynecology at Baylor College of Medicine, and V. Reid Sutton, Department of Molecular and Human Genetics at Baylor College of Medicine.

The findings were published online in Nature Genetics.

Goltz syndrome, also called focal dermal hypoplasia, causes a distinctive red rash and thinning of the skin, which allows fat from the tissue below to protrude and form small yellowish-white lumps.

The disorder often causes brittle hair and nails, and deformities in the hands, such as extra, missing, or deformed fingers. Individuals with Goltz syndrome can also have missing or underdeveloped eyes. In addition, the disorder can affect the stomach, intestines, heart, lungs, and kidneys, said Dr. Ignatia B. Van den Ve
'"/>




Page: 1 2 3

Related medicine technology :

1. NIEHS Researchers Identify Enzyme Critical in DNA Replication
2. Stanford Researchers Find Brain Pathway of Depression in Rats
3. Researchers Discover Method for Identifying How Cancer Evades the Immune System
4. Prolexys Pharmaceuticals and Columbia University Researchers Publish Study on Anti-Tumor Properties of a Selective Small Molecule Anti-Tumor Agent With Novel Mechanism of Action
5. NCI Researchers Discover Genes That Are Turned on at High Levels in Tumor-associated Blood Vessels of Mice and Humans
6. Stanford Researchers Track Human Stem Cells Transplanted Into Rat Brain
7. Dasatinib Shows High Early Response Rate as First Treatment for Chronic Myelogenous Leukemia, M. D. Anderson Researchers Report
8. World First Medical Treatment Announced by Researchers at Queen Mary University London and University of Leicester
9. Researchers Urge Caution in Using ESAs for Cancer-Related Anemia
10. Researchers Identify New Genetic Risk Factors for Type 2 Diabetes
11. Abbott Researchers Focus on New Cutting-Edge Approaches in the Fight Against Cancer
Post Your Comments:
*Name:
*Comment:
*Email:
TAG: Researchers Discover Gene For Rare Skin Disorder
(Date:9/30/2014)... 2014 According to ... by Product [Enzymes (Glycosyltransferase, Neuraminidase, Glycosidase), Instruments ... Application (Immunology, Oncology) & by End User ... MarketsandMarkets, provides a detailed overview of the ... trends, and strategies impacting the global glycomics ...
(Date:9/30/2014)... LOS ANGELES , Sept. 30, 2014   ... apnea shopping destination , today announced that it now ... ResMed . AirSense CPAPs are the first sleep apnea ... makes it simple and easy to track and share ... the overall effectiveness of their CPAP therapy.  In addition, ...
(Date:9/30/2014)... , Sept. 30, 2014 The Chinese ... ageing population and rise in the incidence of lifestyle ... wounds and in affordability of better quality of wound ... care market. Universal coverage of public health insurance schemes ... further stimulate demand. Based on the findings of primary ...
Breaking Medicine Technology:Glycobiology / Glycomics Market Worth $928.11 Million by 2019 2Glycobiology / Glycomics Market Worth $928.11 Million by 2019 3Glycobiology / Glycomics Market Worth $928.11 Million by 2019 4Easy Breathe Now Offers World's First "Smart" CPAP Device to Treat Sleep Apnea 2Easy Breathe Now Offers World's First "Smart" CPAP Device to Treat Sleep Apnea 3Easy Breathe Now Offers World's First "Smart" CPAP Device to Treat Sleep Apnea 4China Wound Care Market 2China Wound Care Market 3
... SAN) and (NYSE: SNY)] announced today it has commenced a ... Genzyme Corporation (Nasdaq: GENZ ) for $69 per ... less any required withholding taxes.  The transaction is valued at ... sanofi-aventis, Board of Directors, is scheduled to expire at 11:59 ...
... Nephros, Inc. (OTC Bulletin Board: NEPH ... products for therapeutic applications, infection control, and water purification, ... bridge financing agreement with Lambda Investors LLC and has ... its stockholders.  Wexford Capital LP is the managing member ...
Cached Medicine Technology:Sanofi-aventis Commences Tender Offer to Acquire All Outstanding Shares of Genzyme for $69 per Share in Cash 2Sanofi-aventis Commences Tender Offer to Acquire All Outstanding Shares of Genzyme for $69 per Share in Cash 3Sanofi-aventis Commences Tender Offer to Acquire All Outstanding Shares of Genzyme for $69 per Share in Cash 4Sanofi-aventis Commences Tender Offer to Acquire All Outstanding Shares of Genzyme for $69 per Share in Cash 5Sanofi-aventis Commences Tender Offer to Acquire All Outstanding Shares of Genzyme for $69 per Share in Cash 6Sanofi-aventis Commences Tender Offer to Acquire All Outstanding Shares of Genzyme for $69 per Share in Cash 7Nephros Completes Bridge Financing and Announces Stockholder Rights Offering 2Nephros Completes Bridge Financing and Announces Stockholder Rights Offering 3Nephros Completes Bridge Financing and Announces Stockholder Rights Offering 4
(Date:9/30/2014)... EverStryke , the permanent match currently offered by ... a free book and class all about survival education and ... investigative review. , “Joe Marshall of SurvivalLife.com is one ... niche, and this product is an excellent way to get ... that Joe offers on his website to help people be ...
(Date:9/30/2014)... 30, 2014 Elevate , the latest ... better in and out of the gym by providing natural ... the attention of Shane Michaels, prompting an investigative review. ... the reason most people simply just don’t have the ability ... focused at work, getting the motivation to finish a project, ...
(Date:9/30/2014)... CA (PRWEB) September 30, 2014 ... providers in Turkey has gone up more than 79 ... The medical tourism company also reported total revenue tripled ... 2012. , The company’s professional strategy has allowed them ... — ultimately designed for patient comfort and privacy — ...
(Date:9/30/2014)... Plains, NY (PRWEB) September 30, 2014 ... recently hosted its annual “In Celebration” gala, honoring ... the nonprofit’s mission of striving to provide extraordinary ... and families facing a serious or life-limiting illness. ... Country Club in Rye, NY and recognized William ...
(Date:9/30/2014)... September 30, 2014 Regenerative Medicine Solutions ... new clinics in Nashville, Tennessee. RMS welcomes the launch ... and the expansion of a new treatment center for ... the Sleep Apnea Institute to Nashville, the hope is ... sleep apnea: both diagnosed and undiagnosed. With Nashville being ...
Breaking Medicine News(10 mins):Health News:EverStryke: Review Exposes Joe Marshall’s Permanent Match Survival Product 2Health News:Elevate: Review Exposes Blue Star Nutraceutical’s Latest Supplement for Ultimate Brain Function, Focus, and Energy 2Health News:VisitandCare.com Announces Record Demand for Plastic Surgery in Turkey 2Health News:VisitandCare.com Announces Record Demand for Plastic Surgery in Turkey 3Health News:VisitandCare.com Announces Record Demand for Plastic Surgery in Turkey 4Health News:Hospice & Palliative Care of Westchester Honors Outstanding Individuals at Annual ‘In Celebration’ Gala 2Health News:Regenerative Medicine Solutions Expanding 2
... Oct. 2 APWU Health Plan is proud to announce ... High Option sees a four percent increase in it,s rate, ... increase. APWU Health Plan is offering the same comprehensive ... adding new benefits and enhancing old ones. We will ...
... in study , FRIDAY, Oct. 2 (HealthDay News) -- Children ... likely to be convicted of violent crimes as adults, a ... looked at data on 17,415 children born in a single ... from the British Cohort Study, included detailed health and lifestyle ...
... of dentists and reaffirms patient advocacy , HONOLULU, ... of its 150th birthday will culminate with tonight,s spectacular program, ... "The ADA,s 150th anniversary is a very significant achievement in ... President John S. Findley, D.D.S. "It also is a ...
... Oct. 2 Beginning October 1st, The Peninsula Chicago will ... Awareness Month and several cancer research and education organizations. , ... breast cancer in some way and this is why we ... Maria Zec, general manager of The Peninsula Chicago. "In addition ...
... study patients , FRIDAY, Oct. 2 (HealthDay News) -- ... for surgery in ulcerative colitis patients by almost half, ... inflammation of the colon and often leads to surgical ... 728 patients who received either an inactive placebo or ...
... linked to reduced risk, study finds , FRIDAY, Oct. ... can reduce the risk of falls in seniors, say researchers ... participants aged 65 and older. , The analysis revealed that ... vitamin D per day (vitamin D2 or D3) reduces falls ...
Cached Medicine News:Health News:Daily Candy in Childhood Linked to Violence in Adulthood 2Health News:Daily Candy in Childhood Linked to Violence in Adulthood 3Health News:ADA Culminates Yearlong 150th Anniversary Observance at Its 150th Annual Session 2Health News:ADA Culminates Yearlong 150th Anniversary Observance at Its 150th Annual Session 3Health News:The Peninsula Chicago Gives Back During Breast Cancer Awareness Month 2Health News:Daily Dose of Vitamin D Helps Prevent Falls in Seniors 2
Stryker autoclavable pediatric laparoscopes provide equivalent brightness and resolution along with the unparalleled durability found in larger laparoscopes....
The flexible nature of the vinyl allows the user to reach deeper into the chamber and allows for a greater comfort when working inside the glove box over a long period of time compared to any rigid s...
Bactron IV is designed for high volume, yet requires far less bench space than expected for its capacity and performance features....
Designed for larger laboratories or research applications, the Concept 1000 boasts some very unique features....
Medicine Products: