Navigation Links
Animal model sheds light on rare genetic disorder, signaling pathway
Date:7/20/2011

SALT LAKE CITY A team of researchers from the University of Utah and Brigham Young University has developed a mouse model of focal dermal hypoplasia, a rare human birth defect that causes serious skin abnormalities and other medical problems. This animal model not only provides insight into studying the cause of focal dermal hypoplasia (FDH), but also offers a novel way to study a signaling pathway that is crucial for embryonic development.

The findings were published July 19, 2011, online in the Proceedings of the National Academy of Sciences.

FDH is an uncommon X chromosome-linked genetic disorder characterized by distinctive skin abnormalities and a wide variety of defects affecting the eyes, teeth, fingernails, skeleton, and other body systems. The exact prevalence of FDH is not known, but about 90 percent of cases occur in females. The disorder has been associated with at least 24 different mutations in a gene called PORCN located on the X chromosome. Based on studies in cultured cells and in lower model organisms, PORCN is known to promote secretion of Wnt signaling proteins, key regulators of embryonic development.

"In addition to the integral role it plays in the development of nearly all body tissues, the Wnt signaling pathway has also been implicated in the development of diseases such as cancer and diabetes," says L. Charles Murtaugh, Ph.D., associate professor of human genetics at the University of Utah and lead author on the study. "In our research, we mutated the mouse version of the PORCN gene to better understand its exact functions in the Wnt signaling pathway."

Murtaugh and his colleagues found evidence that PORCN is required for secretion and activity of Wnt proteins, supporting the widely held hypothesis that FDH is a disease of impaired Wnt signaling. They also found PORCN is essential for formation of the mesoderm, the layer of embryonic cells that gives rise to the connective tissues of the body
'/>"/>

Contact: Phil Sahm
phil.sahm@hsc.utah.edu
801-581-2517
University of Utah Health Sciences
Source:Eurekalert

Page: 1 2

Related biology news :

1. Loss of top animal predators has massive ecological effects
2. The Animal Connection -- a new perspective on what makes us human
3. The loudest animal is recorded for the first time
4. Ancient symbiosis between animals and bacteria discovered
5. Genome editing, a next step in genetic therapy, corrects hemophilia in animals
6. Why animals dont have infrared vision
7. New type of MRSA in hospitalized patients probably of animal origin
8. Study finds greenhouse gas reduction strategy may be safe for soil animals
9. Blueberrys effects on cholesterol examined in lab animal study
10. Egg cartons not accurate in reporting animal welfare claims
11. UF research aims to help preserve plants, animals caught between forest fragments
Post Your Comments:
*Name:
*Comment:
*Email:
(Date:8/28/2014)... 25 million kilometres of new roads will be built ... into Earth,s last wildernesses, where they bring an influx ... Now, an ambitious study has created a ,global roadmap, ... to balance the competing demands of development and environmental ... layer that estimates that natural importance of ecosystems and ...
(Date:8/28/2014)... the world to Global Warming, has called for atmospheric ... He says that Carbon Capture, combined with limits on ... global warming getting out of control over the next ... the call during his presentation to the International Carbon ... to discuss Carbon Capture and Storage. , He ...
(Date:8/28/2014)... Biologists at Ludwig-Maximilians-Universitaet (LMU) in Munich have assigned ... genus of predatory arthropods. These animals lived in ... than related forms found in Jurassic strata. ... their shallow marine habitat and were fossilized some ... other denizens of the Silurian seas although ...
Breaking Biology News(10 mins):Study shows where on the planet new roads should and should not go 2Study shows where on the planet new roads should and should not go 3Global warming pioneer calls for CO2 to be taken from atmosphere and stored underground 2Paleontology: Oldest representative of a weird arthropod group 2
... Tech scientists contributed by invitation to an international ... Senegal, to identify strategies for the control of ... year, locusts stripped fields of crops and trees ... and food supply loss. , Larry Vaughan, associate ...
... Two Scandinavian studies have provided further evidence that ... , The studies, published online today (Thursday 28 ... Reproduction, suggest that environmental pollutants could be changing ... Y (sex determining) chromosomes and that they could ...
... accurate imaging technique have shed light on the tiny movements ... motors cooperate in a delicate choreography of steps, rather than ... imagined. , "We discovered that two molecular motors -- ... though they want to move the same cargo in opposite ...
Cached Biology News:Scientists discuss improved biopesticides for locust control in West Africa 2How the environment could be damaging men's reproductive health 2How the environment could be damaging men's reproductive health 3How the environment could be damaging men's reproductive health 4Molecular Motors Cooperate In Moving Cellular Cargo, Study Shows 2
(Date:8/29/2014)... York (PRWEB) August 29, 2014 ... at $5.6 billion in 2019. It is expected ... 2013 to 2019, and was valued at $1.8 ... published by Transparency Market Research. , For more ... http://www.transparencymarketresearch.com/companion-diagnostics-market.html . , The research report, titled ...
(Date:8/29/2014)... NY (PRWEB) August 29, 2014 Local ... Hills Veterinary Hospital are seeking candidates to participate in ... with osteoarthritis. The ultimate goal of this study ... stem cells into one or two arthritically affected joints ... joints. , Candidates for the current investigational study ...
(Date:8/29/2014)... Boston, MA, San Antonio, TX (PRWEB) August 29, ... audited, ISO 9001:2008 and ISO 13485:2003 certified, GAMP® ... it has been awarded an international Phase II ... patients with non-Hodgkin’s lymphoma. , Throughout this trial, ... services including, but not limited to, protocol and ...
(Date:8/28/2014)... MA (PRWEB) August 28, 2014 “This kit ... test to screen from 0 to 150 ppb,” said Mark ... is a significant benefit to plant owners and USDA-GIPSA inspection ... and other commodities. Testing can take place in a matter ... only can the plant test the feed and grain before ...
Breaking Biology Technology:Companion Diagnostics Market to Hit $5.6 Billion in 2019: Transparency Market Research 2Companion Diagnostics Market to Hit $5.6 Billion in 2019: Transparency Market Research 3Burnt Hills Veterinary Hospital Seeks Candidates for an Investigational Study of Stem Cells for Dogs with Arthritis 2Intrinsic Imaging Awarded Phase II Clinical Trial to Assess New Treatment for Non-Hodgkin’s Lymphoma 2
... Wireless Facilities, Inc. , a global ... communication networks, technology networks and security systems, announced today ... and deployment services for the City of Madison, Wisconsin's ... company Cellnet, and in coordination with Madison Gas & ...
... -- A former paper converting plant in this southwestern Wisconsin ... push to become a major global player in radio frequency ... various types of labels and thermal transfer ribbons ... by the technology. The labels are intended to add efficiencies ...
... CHICAGO Anyone following this column over the last few ... allow me to arrange information into tidy boxes in some ... sense out of the information for myself). While my list ... about how lists could be used to create awareness and ...
Cached Biology Technology:Wisconsin plant is part of NCR's global RFID initiative 2Wisconsin plant is part of NCR's global RFID initiative 3Wisconsin plant is part of NCR's global RFID initiative 4Though Weakening, Biotech IPO Market Still Viable, Burril & Co. Says 2Though Weakening, Biotech IPO Market Still Viable, Burril & Co. Says 3Though Weakening, Biotech IPO Market Still Viable, Burril & Co. Says 4
... inch long PYREX NMR tubes are made from ... valves, and vacuum racks. They are designed for ... 500MHz. They have an O.D. of 4.97 + ... These NMR tubes can be used with the ...
... dye for nucleic acid electrophoresis in ... sequencing. Preparation Quantity Equivalency: A final ... 2% stock solution can be made ... comp: Dye content ~ 75% ...
Preparation TW--Compatibility: Push-on end cap seals suitable up to 70 C only -Hybridization Tube for Model HB-1D -Comp Dim: 200 80 mm -Material: borosilicate glass -Mfr Desig: Techne FHB-12...
... Gel Extraction Kit combines silica- binding technology with ... format. DNA fragments of interest are extracted from ... gel. The Gel Solubilization Solution can dissolve an ... TBE or TAE buffer. Extracted DNA fragments selectively ...
Biology Products: