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:4/20/2015)... , April 20, 2015 Huntington Memorial ... Valley to implant a new miniaturized, wireless monitoring sensor ... is the first and only FDA-approved heart failure monitoring ... admissions when used by physicians to manage heart failure. ... that is implanted in the pulmonary artery (PA) during ...
(Date:4/14/2015)... , April 14, 2015 NXT-ID, Inc. (NASDAQ: ... authentication company focused on the growing mobile commerce market, ... for the 2015 New York Design Awards under the ... New York City Design Awards are part of a ... over 2,500 ratings from the marketplace, industry and judging ...
(Date:4/9/2015)... 2015 Synaptics Inc. (NASDAQ: SYNA ), a ... it will report financial results for the third quarter ... the close of market. The company will host a ... p.m. PT (5:00 p.m. ET), during which management may ... the live call, analysts and investors should dial 888-438-5524 ...
Breaking Biology News(10 mins):Huntington Memorial Hospital Becomes First in the San Gabriel Valley to Offer Patients a New Heart Failure Monitoring Solution 2Huntington Memorial Hospital Becomes First in the San Gabriel Valley to Offer Patients a New Heart Failure Monitoring Solution 3NXT-ID's Wocket Smart Wallet Nominated for 2015 New York Design Awards in 'Product Design- Technology' 2NXT-ID's Wocket Smart Wallet Nominated for 2015 New York Design Awards in 'Product Design- Technology' 3Synaptics to Report Third Quarter Results on April 23 2
... are highly valued by consumers yet their properties have ... a drain on our limited natural resources. Until now ... Laboratory (NPL) are working towards producing the world,s first ... results could help make synthetic products so good that ...
... ecologist Marijke van Kuijk has studied the regeneration of ... regenerate to tropical forest, but only slowly. Two procedures ... to free up space for trees and planting the ... to calculate the appropriate measures. People in ...
... shape and size of microscopic three-dimensional structures built out ... Shear and his former graduate student Bryan Kaehr at ... Kaehr fabricated a variety of detailed three-dimensional microstructures, known ... and bend the hydrogels by altering the chemistry of ...
Cached Biology News:Scientists set out to measure how we perceive naturalness 2Scientists set out to measure how we perceive naturalness 3Giving nature a helping hand 2'Smart' materials get smarter with ability to better control shape and size 2'Smart' materials get smarter with ability to better control shape and size 3
(Date:5/28/2015)... (PRWEB) May 28, 2015 Global ... a point to ask his audiences if they ... trends including robotics, solar cells, fuel cells, rapid ... printers, advanced battery storage technology, driverless cars, artificial ... high-quality but inexpensive online education. , While ...
(Date:5/28/2015)... May 28, 2015 Dr. Carl ... today that Roger L. Williams, MD, has joined ... Partners Premier Experts are top tier consultants whose ... extraordinary value to the company’s clients. Premier Experts ... help clients successfully develop their medical products, pursue ...
(Date:5/28/2015)... 28, 2015 Clinerion, an ... Switzerland, and the Alliance for Clinical Research ... non-profit organization operating in the public interest ... to enhance quality, safety, integrity and operational ... research, are pleased to announce their partnership ...
(Date:5/27/2015)... RXi Pharmaceuticals Corporation (NASDAQ: RXII ... developing innovative therapies primarily in the areas of ... a public offering of shares of its common ... stock and overallotment purchase rights to purchase shares ... stock, warrants and overallotment purchase rights are immediately ...
Breaking Biology Technology:Futurist Jack Uldrich to Deliver 4 Keynote Addresses in June 2Former CEO and Chair of the Council of Experts at the USP, Roger L. Williams, MD, Joins NDA Partners as a Premier Expert Consultant 2Clinerion and ACRES Partner on Patient Recruitment and Risk-Based Quality Management 2Clinerion and ACRES Partner on Patient Recruitment and Risk-Based Quality Management 3RXi Pharmaceuticals Announces Proposed Public Offering of Common Stock and Warrants 2RXi Pharmaceuticals Announces Proposed Public Offering of Common Stock and Warrants 3
... survival tend to favor the strongest, but University of ... of self-healing materials, it is the somewhat frail that ... Langmuir a new model laying out the inner ... that can regenerate after taking damage and are being ...
... 2011 Novavax, Inc. (Nasdaq: NVAX ) ... Singhvi, President and Chief Executive Officer of Novavax, will ... of Vaccine on March 23rd, 2011 at the China ... be giving a presentation on Commercialization Strategies for Vaccines ...
... "templated growth" technique for fabricating nanoribbons of epitaxial graphene ... that conduct current with almost no resistance. These ... made with conventional architectures and set the stage ... of the quantum properties of electrons. "We can ...
Cached Biology Technology:Only the weak survive?: Pitt team adds more give for stronger self-healing materials 2Templated growth technique produces graphene nanoribbons with metallic properties 2Templated growth technique produces graphene nanoribbons with metallic properties 3Templated growth technique produces graphene nanoribbons with metallic properties 4
...
BD FastImmune EDTA Solution. Applications: Flow Cytometry Storage Temperature: Refrigerate(2 to 8C)...
Autoclavable, variable volumefitted w./ an anti-drip safety valve; borosilicate glass barrelprotected with transparentpolypropylene sleeve; spring-lock cursor design ensuresfine adjustment for exact ...
...
Biology Products: