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:7/28/2014)... the bug hunter, but the target of his work ... identified with special methods and instruments. Benjamin Hause, an ... Laboratory at Kansas State University, recently published an article ... is an important find in the United States. , ... know what it was," Hause said. "We used next-generation ...
(Date:7/28/2014)... that can help advance the genetic engineering of ... has been developed by researchers with the U.S. ... a multi-institutional partnership led by Lawrence Berkeley National ... an assay that enables scientists to identify and ... components in the biosynthesis of plant cell walls. ...
(Date:7/28/2014)... for Biologically Inspired Engineering at Harvard University today ... commercialized by a newly formed private company to ... medicine products. The announcement follows a ... Development (OTD) and the start-up Emulate Inc., relating ... Organs-on-Chips platform. , "This is a big ...
Breaking Biology News(10 mins):Researcher using next-generation sequencing to rapidly identify pathogens 2Researcher using next-generation sequencing to rapidly identify pathogens 3How sweet it is 2How sweet it is 3Wyss Institute's technology translation engine launches 'Organs-on-Chips' company 2Wyss Institute's technology translation engine launches 'Organs-on-Chips' company 3
... pays to be rare—think of a one-of-a-kind diamond, a ... , Now, new research suggests that being rare has ... University of Toronto Mississauga who in the 1980s discovered ... fruit flies, has identified the benefit of rarity in ...
... the La Jolla Institute for Allergy & Immunology have ... be reduced ?and in some cases eliminated ?through the ... the immune system. The research team’s findings, based ... implications for other chronic virus infections, such as hepatitis ...
... how ocean circulation is working in the current that ... from underwater volcanoes. The details are published in Nature ... Garabato of the National Oceanography Centre, Southampton (formerly based ... 'short-circuit' in the circulation of the world's oceans that ...
Cached Biology News:Survival of the rarest: Fruit flies shed light on the evolution of behavior 2LIAI scientists make important finding on cytomegalovirus transmission 2'Short-circuit' found in ocean circulation 2
(Date:7/29/2014)... (PRWEB) July 29, 2014 EXpressLO LLC, ... lift out specimen preparation solutions, has been granted patent ... for specimen manipulation methods incorporating a unique specimen carrier ... This is the second company patent for EXpressLO LLC ... , These complementary patents extend EXpressLO’s portfolio ...
(Date:7/28/2014)... July 28, 2014 The Workgroup for ... on the use of health IT to create efficiencies ... Plan Identifier (HPID) Workgroup has developed an issue ... Plan and Payer?” The HPID Workgroup, a part of ... the Centers for Medicare and Medicaid Services (CMS) to ...
(Date:7/28/2014)... , July 28, 2014 Research ... "Global Synthetic Biology Market 2014-2018" report to ... The term synthetic biology covers the designing ... organisms as well as the redesigning of natural biological ... considered to be a form of extreme genetic engineering ...
(Date:7/28/2014)... Boston, MA (PRWEB) July 28, 2014 ... with two researchers to further develop potential treatments for ... brain tumor, in combination with their patented vaccine platform, ... and Duke University, are based on the work of ... of Neurosurgery at The Preston Robert Tisch Brain Tumor ...
Breaking Biology Technology:EXpressLO LLC Granted Second U.S. Patent for Innovative Specimen Preparation Methods 2WEDI’s HPID Workgroup Announces Release of Issue Brief: “What is the Difference Between a Health Plan and Payer?” 2Global Synthetic Biology Market 2014-2018 2String of Collaborations Launch Immunomic Therapeutics’ Brain Tumor Program Pipeline 2String of Collaborations Launch Immunomic Therapeutics’ Brain Tumor Program Pipeline 3String of Collaborations Launch Immunomic Therapeutics’ Brain Tumor Program Pipeline 4
... one of six states to receive a $50,000 grant ... network further into the Internet age. , ,Wisconsin's grant ... of Justice Assistance, which houses the Wisconsin Justice ... maintaining, promoting and coordinating automated justice information systems. , ...
... the learning acquired in the program but rather the blue-chip roster ... mythology goes, you can call on a fellow alum to help ... will be of value once again. , ,Though I can't say ... can attest to the power of alumni connections. , ,While I'm ...
... of health-care and business technology, announced a seven-year contract with ... Information System (MMIS). The new system is expected to be ... contracts EDS to implement its InterChange health system on the ... Services . The contract is worth approximately $189 million and ...
Cached Biology Technology:State receives grant for justice information sharing 2Pay attention to your alumni connections when job hunting 2Pay attention to your alumni connections when job hunting 3Pay attention to your alumni connections when job hunting 4State picks long-time vendor for $189m Medicaid information system 2
... (GST) is commonly used as a fusion ... (1). The GSTTag sequence has been reported ... cases the solubility of its fusion partners. ... form, GSTTag fusion proteins can be purified ...
... applications for the use of small interfering ... via the RNA interference (RNAi) pathway have ... molecular biology fields. siRNA for experimental use ... or enzymatically, and then transfected into the ...
... unique collision reaction interface (CRI) system*, ... troublesome spectroscopic interferences. The result is ... the worry of complex multipole or ... And, by coupling autotuning of all ...
Acetylcholinesterase (human brain, AChE)...
Biology Products: