Navigation Links
Mutation causing wrong-way plumbing explains 1 type of blue-baby syndrome
Date:5/12/2013

on the paper.

Physicians thought that TAPVC occurred when the precursor cells of the pulmonary vein failed to form at the proper location on the embryonic heart atrium. However, analysis of Sema3d mutant embryos showed that TAPVC occurs despite normal formation of embryonic precursor veins.

In these embryos, the maturing pulmonary venous plexus, a tangle of vessels, does not connect just with properly formed precursor veins. In the absence of the Sema3d guiding signal, endothelial tubes form in a region that is not normally full of vessels, resulting in aberrant connections. Normally, Sema3d provides a repulsive cue to endothelial cells in this area, establishing a boundary.

Sequencing of Sema3d in individuals affected with anomalous pulmonary veins identified a point mutation that adversely affects Sema3d function in humans. The mutation causes Sema3d to lose its normal ability to repel certain types of cells to be able to guide other cells to grow in the correct place. When Sema3d can't keep developing veins in their proper space, the plumbing goes haywire.

Since it's already known that semaphorins guide blood vessels and axons to grow properly, the authors surmise that Sema3d could be used for anti-angiogenesis therapies for cancer, to treat diabetic retinopathy, or to help to grow new blood vessels to repair damaged hearts or other organs.


'/>"/>

Contact: Karen Kreeger
karen.kreeger@uphs.upenn.edu
215-349-5658
University of Pennsylvania School of Medicine
Source:Eurekalert

Page: 1 2

Related biology news :

1. Spontaneous mutations are major cause of congenital heart disease
2. Identified as responsible for breast and ovarian hereditary cancer 3 mutations at BRCA1 gene
3. Haiti cholera mutations could lead to more severe disease
4. Gene sequencing project finds new mutations to blame for a majority of brain tumor subtype
5. A fly mutation suggests a new route for tackling ALS
6. Shedding light on a gene mutation that causes signs of premature aging
7. Bird flu mutation study offers vaccine clue
8. One gene, many mutations
9. Found a genetic mutation causing mental retardation very similar to Angelman syndrome in Amish
10. Sleator lab identifies single point mutation in Listeria monocytogenes
11. Why a hereditary anemia is caused by genetic mutation in mechanically sensitive ion channel
Post Your Comments:
*Name:
*Comment:
*Email:
(Date:10/29/2014)... registration is open for the Society ... Meeting. SIR 2015 is the one place ... and related health care professionals can come ... science and technologies being presented, discussed and ... in minimally invasive, image-guided medicine, SIR 2015 ...
(Date:10/29/2014)... on September 19, 2014, leading geneticist and humanitarian Prof. ... Sciences and Medicine at the University of Washington in ... Aviv University, was awarded the 2014 Lasker-Koshland Special Achievement ... honorary degree from TAU, Prof. King was the 2012-2013 ... for the past 18 years she has been the ...
(Date:10/29/2014)... Hebei, China — BGI Tech and Hebei Agricultural University ... Jujube genome. Jujube is the most economically important member ... particularly difficult to sequence due the high level of ... time that a genome in the Rhamnaceae (Buckthorn) family ... in Nature Communications . , Jujube ...
Breaking Biology News(10 mins):SIR 2015: Interventional radiology shapes tomorrow's medicine 2Geneticist and humanitarian: Prof. Mary-Claire King receives Lasker Award 2BGI Tech and Hebei Agricultural University complete the genome sequencing of the jujube tree 2
... examine the extent to which quercetin and trans-resveratrol ... cultures of human adipocytes treated with tumor necrosis ... and adipose tissue of obese, diabetic individuals. ... and trans-RSV followed by treatment with TNF-a. ...
... When prowling for a hook up, it,s not always the ... species of South American fish, brawn and stealth beat out ... series of published studies of a South American species of ... guppies, Syracuse University scientists have discovered how the interplay between ...
... environment, sea urchins literally eat through stone, using their teeth ... predators and protect themselves from the crashing surf on the ... rock-boring behavior is astonishing, scientists agree, but what is truly ... urchin teeth never, ever get dull. The secret of their ...
Cached Biology News:Study on effects of resveratrol and quercetin on inflammation and insulin resistance 2SU scientists find that in the evolutionary mating game, brawn and stealth rule 2SU scientists find that in the evolutionary mating game, brawn and stealth rule 3Ever-sharp urchin teeth may yield tools that never need honing 2
(Date:10/27/2014)... and TORONTO , Oct. ... www.generex.com ) (OTCQB: GNBT) today announced two presentations ... triggered by its novel proprietary cancer immunotherapeutic AE37 ... breast cancer patients. The AE37 cancer vaccine is ... Express, Inc. ( www.antigenexpress.com ). The presentations are ...
(Date:10/27/2014)... 2014 The “Molecular Diagnostic Market ... Technology (PCR, INAAT, DNA Sequencing), End User (Hospital, ... - Global Forecast to 2018” provides a detailed ... current market trends, and strategies impacting the global ... forecasts of the revenue and share analysis. , ...
(Date:10/27/2014)... 2014 Called the NOAH Protocol, ... several types of pediatric brain cancer. The implications ... over 30 years of research and development. Amber ... that one mom's determination can make a difference. ... trick-or-treating, and it’s only fitting that we’ve received ...
(Date:10/27/2014)... , Oct. 27, 2014 Pressure ... a worldwide leader in the development and sale ... life sciences research market, today announced that Professor ... a novel, accurate, highly reproducible, and robust method ... routine high-throughput protein analysis on small needle biopsy ...
Breaking Biology Technology:Generex Announces Presentations Correlating Immunological Response with Reduced Recurrence in Phase II Study of AE37 Breast Cancer Vaccine in Patients at the American College of Surgeons 2Generex Announces Presentations Correlating Immunological Response with Reduced Recurrence in Phase II Study of AE37 Breast Cancer Vaccine in Patients at the American College of Surgeons 3Generex Announces Presentations Correlating Immunological Response with Reduced Recurrence in Phase II Study of AE37 Breast Cancer Vaccine in Patients at the American College of Surgeons 4Global Molecular Diagnostics Market Will Reach $7.9 Billion by 2018 - New Research Report by MarketsandMarkets 2Global Molecular Diagnostics Market Will Reach $7.9 Billion by 2018 - New Research Report by MarketsandMarkets 3Global Molecular Diagnostics Market Will Reach $7.9 Billion by 2018 - New Research Report by MarketsandMarkets 4Global Molecular Diagnostics Market Will Reach $7.9 Billion by 2018 - New Research Report by MarketsandMarkets 5FDA Approves Breakthrough in Pediatric Brain Cancer - First in 30 Years 2FDA Approves Breakthrough in Pediatric Brain Cancer - First in 30 Years 3Breakthrough Method to Permit Quantification of Thousands of Proteins in Needle Biopsy Samples in 12 hours Presented at Major International Scientific Meeting; Method Enabled by Pressure BioSciences' PCT Sample Preparation Platform 2Breakthrough Method to Permit Quantification of Thousands of Proteins in Needle Biopsy Samples in 12 hours Presented at Major International Scientific Meeting; Method Enabled by Pressure BioSciences' PCT Sample Preparation Platform 3Breakthrough Method to Permit Quantification of Thousands of Proteins in Needle Biopsy Samples in 12 hours Presented at Major International Scientific Meeting; Method Enabled by Pressure BioSciences' PCT Sample Preparation Platform 4Breakthrough Method to Permit Quantification of Thousands of Proteins in Needle Biopsy Samples in 12 hours Presented at Major International Scientific Meeting; Method Enabled by Pressure BioSciences' PCT Sample Preparation Platform 5
... RAMAT GAN, Israel, June 8 EarlySense announced ... cleared for,marketing by the U.S. Food and Drug Administration ... Dutch notified body, in accordance with the,EC-Directive 93/42/EEC. Both ... home, hospital or clinical setting. In November 2007, EarlySense,announced ...
... Sirius Genomics, a developer of pharmacogenomic diagnostics, announced that ... its recent Annual General Meeting. The six-member Board consists ... Jim Heppell, Mr. Amos Michelson, Dr. Bradley Popovich and ... molecular diagnostics, commercialization and personalized medicine experience that is ...
... ... Pilest was recently selected by Solta Medical (parent company of Fraxel and Thermage) as ... more profound improvements when patients have undergone both procedures within a close time span. ... the cosmetic laser industry. , ...
Cached Biology Technology:EarlySense's EverOn(TM) System Receives FDA Clearance and CE Mark Certification 2Sirius Genomics Announces 2009 Board of Directors 2Orange County Laser Surgeon Nissan Pilest Tapped as Keynote Speaker at Fraxel & Thermage User Forum Held at Beckman Laser Institute 2Orange County Laser Surgeon Nissan Pilest Tapped as Keynote Speaker at Fraxel & Thermage User Forum Held at Beckman Laser Institute 3
... has a long and outstanding history ... Several years ago we became aware ... was being modified to inject Xenopus ... redesigning the microdispenser to eliminate any ...
Coating : Poly-D-Lysine ,Surface : ECM/attachment factors ,Surface area : 9.6 cm2 ,Dim nominal : 35 mm x 10 mm ,Vol working : 2.5-3.0 ml ...
Rabbit polyclonal to Synapsin II ( Abpromise for all tested applications). entrezGeneID: 6854 SwissProtID: Q92777...
... primers are designed for sequencing inserts cloned ... T7, or T3 RNA polymerase promoters, or ... supplied at a concentration of 0.1 µg/µl ... in DNA sequencing reactions using SequiTherm™ EXCEL™ ...
Biology Products: