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:12/22/2014)... and Markets ( http://www.researchandmarkets.com/research/h3xm6q/us ) has announced ... Market" report to their offering. ... focuses on the developments in the self-monitoring blood glucose ... Reimbursement analysis and the effects of competitive bidding have ... SMBG meters have been performed, based on the various ...
(Date:12/22/2014)... a privately-held medical products and technologies company, today announced ... Officer of the company, effective December 22, 2014. ... Board of Directors of ConvaTec thanks Mr. Berger for ... years," said Magnus Lundberg , the Chairman of ... company is well positioned for the future."  The company ...
(Date:12/22/2014)... /PRNewswire/ -- RXi Pharmaceuticals Corporation (NASDAQ: RXII ... and commercializing innovative therapies addressing major unmet medical ... open letter to shareholders from President & CEO, ... Dear RXi Shareholders, In the ... posted on certain social media sites seem to ...
Breaking Medicine Technology:US Self-monitoring Blood Glucose Market 2ConvaTec Names Paul Moraviec Interim CEO Effective December 22, 2014 2RXi Pharmaceuticals Issues Open Letter to Shareholders 2RXi Pharmaceuticals Issues Open Letter to Shareholders 3RXi Pharmaceuticals Issues Open Letter to Shareholders 4RXi Pharmaceuticals Issues Open Letter to Shareholders 5RXi Pharmaceuticals Issues Open Letter to Shareholders 6
... FORT LAUDERDALE, Fla., Nov. 27 Imaging,Diagnostic Systems, ... laser,optical breast imaging, announced today that the Company ... in its CTLM(R) clinical trials.,Under an approved protocol, ... submission of a Premarket Approval (PMA) application to ...
... 10:00 a.m. (EST), A World AIDS Day Call ... and African Women,s, Faith-based and Youth Rights,Organizations Call on Congress ... Plan, WASHINGTON, Nov. 26 The following was,released by ... November 29, 2007, at 10:00 a.m. EST, Who: ...
Cached Medicine Technology:Imaging Diagnostic Systems Updates PMA Filing Status for the New CT Laser Breast Imaging System 2Imaging Diagnostic Systems Updates PMA Filing Status for the New CT Laser Breast Imaging System 3World AIDS Day Audio Press Conference 2
(Date:12/25/2014)... Dennis Thompson HealthDay Reporter ... be closing in on a "fountain of youth" drug that ... of older adults, a new study suggests. Seniors received ... drug that targets a genetic signaling pathway linked to aging ... The experimental medication, a version of the ...
(Date:12/25/2014)... “ SmileStix ” was featured on NewsWatch as part of ... applications on the iOS, Android, and Windows markets. Andrew Tropeano, ... app review and shared with viewers how this is an ... saying goes, “A picture says a thousand words.” It’s true. ... single image, because each picture holds a unique and special ...
(Date:12/25/2014)... Each year trauma accounts for approximately ... admissions across the nation (according to the Centers ... National Hospital Ambulatory Medical Care Survey collected data ... 2010. They estimated that there were between 3.5 and ... primary diagnosis of broken bone or fracture. , ...
(Date:12/24/2014)... (PRWEB) December 25, 2014 Over 700 ... to their local communities. That is 700 smiling little ... single gift. Additionally over $6000 in monetary donations was ... offset some of the expenses they incur through the ... drive were A Child's Haven , Shrine's Children's ...
(Date:12/24/2014)... iFitDress.com, a famous dress manufacturer and retailer, has announced ... these items are brand new; they are made by experienced ... the new range of high quality prom gowns. A lot ... are made according to the latest trends. For years, the ... the company is handpicked by skilled tailors. , In the ...
Breaking Medicine News(10 mins):Health News:Researchers Take 'First Baby Step' Toward Anti-Aging Drug 2Health News:Researchers Take 'First Baby Step' Toward Anti-Aging Drug 3Health News:An Application to Create Custom Stickers was Featured on NewsWatch Television on December 19, 2014 2Health News:Every Year Four Million Emergency Department Visits Result from Accidents Involving Bone Trauma 2Health News:Every Year Four Million Emergency Department Visits Result from Accidents Involving Bone Trauma 3Health News:Every Year Four Million Emergency Department Visits Result from Accidents Involving Bone Trauma 4Health News:AlignLife Donates Over 700 Toys This Year 2Health News:Many Prom Dresses under 150 from Well-known Dress Manufacturer iFitDress.com 2
... FRANCISCO, Calif., June 1 Rigel Pharmaceuticals, Inc. (Nasdaq: ... Syk inhibitor, R788, is being evaluated in a Phase ... National Cancer Institute (NCI), part of the U.S. National ... will include patients with advanced colorectal, thyroid, non-small cell ...
... Company to Divest Late Stage Operations, Signs ... INC Research, , , TORONTO, June 1 /PRNewswire-FirstCall/ - ... leading provider of products and services to the global life ... MDS Pharma Services business on the delivery of Early Stage ...
... June 1 A panoramic downtown Milwaukee view, ... to the rooftop healing garden at Aurora St. ... and sounds awaiting guests at the newly opened ... Agnes and Morland Hamilton Healing Conservatory. , ...
... ... Contacts ( www.ClearlyContacts.ca ) and Stockhouse ( www.Stockhouse.com ), are pleased to announce the ... ... 2009 -- Two Vancouver based online powerhouses, Clearly Contacts ( www.ClearlyContacts.ca ) and Stockhouse ...
... , ... regulations have forced healthcare providers, insurers, and managed care organizations to take a hard look ... industry now changes. Instead of "Do I accommodate the LEP market?" we are asking, "How ... , ...
... Infants and young toddlers with obstructive sleep apnea and ... of the ailment, according to an invited article in ... Surgery . , The study evaluated 73 cases in ... for obstructive sleep apnea through the removal of the ...
Cached Medicine News:Health News:Rigel's R788 Evaluated in Phase 2 Trial in Multiple Cancers 2Health News:Rigel's R788 Evaluated in Phase 2 Trial in Multiple Cancers 3Health News:MDS Announces Strategy to Focus MDS Pharma Services on Early Stage Operations - Discovery Through Phase IIa 2Health News:MDS Announces Strategy to Focus MDS Pharma Services on Early Stage Operations - Discovery Through Phase IIa 3Health News:MDS Announces Strategy to Focus MDS Pharma Services on Early Stage Operations - Discovery Through Phase IIa 4Health News:Aurora St. Luke's Dedicates Rooftop Healing Garden and Conservatory 2Health News:Aurora St. Luke's Dedicates Rooftop Healing Garden and Conservatory 3Health News:Clearly Contacts Forms Strategic Marketing Alliance with Stockhouse 2Health News:Clearly Contacts Forms Strategic Marketing Alliance with Stockhouse 3Health News:Avantpage Translations Releases White Paper on Capturing The Fastest Growing Healthcare Market In America 2
9 mm blade....
Consist of 6 disposable bevel blades (N0522) and chuck handle (0521). Malleable shafts. Designated most popular model or size....
Duckbill. 3.5 mm tip. Light curve....
1.25 mm x 2.5 mm blade. 135 degrees back scratcher. Round handle....
Medicine Products: