Navigation Links
Researchers discover first gene linked to missing spleen in newborns
Date:5/3/2012

terized by a spleen that is missing but with no other developmental abnormalities. The cause is believed to be genetic, but no candidate genes in humans had been found before this study.

This research project was a collaboration between Dr. Selleri and her colleagues, and Rockefeller University's Dr. Jean-Laurent Casanova, professor in the St. Giles Laboratory of Human Genetics of Infectious Diseases. Dr. Casanova had led a previous study describing 20 ICA patients, of which most children suffered their first serious infection by age one, and nine died of an invasive pneumonia.

Dr. Selleri has long been studying congenital asplenia in the laboratory using the mouse as a model system and had previously discovered that a transcription factor known as Pbx is the prime regulator of spleen development in mouse models. Dr. Matthew Koss, a recent Ph.D. graduate who had studied in Dr. Selleri's lab, led the effort to create a strain of mice that lacked Pbx in the spleen, and were born without a spleen. He identified a regulatory module that is controlled by Pbx and targets Nkx2.5, a gene downstream of Pbx, in the developing spleen of the mouse embryo. He also discovered that Pbx controls the growth of the spleen by directly regulating the expression of Nkx2.5, which in turn controls cell proliferation within the primitive spleen organ.

Then, in Dr. Casanova's lab, Alexandre Bolze, a graduate student, sequenced genetic samples from ICA patients and analyzed them using whole exome sequencing technology, which allows sequencing of the entire coding genome of multiple patients -- a technique routinely employed by Dr. Casanova. Bolze found that Nkx2.5 was mutated in a family of asplenic patients, some of which died from lethal infections -- confirming the importance of Nkx2.5 in human congenital asplenia as in the mouse model of the disorder.

"This study illustrates the unique strength in using mouse models and human genetics hand-in-hand," sa
'/>"/>

Contact: Lauren Woods
law2014@med.cornell.edu
212-821-0560
New York- Presbyterian Hospital/Weill Cornell Medical Center/Weill Cornell Medical College
Source:Eurekalert

Page: 1 2 3

Related biology news :

1. Researchers pinpoint genetic pathway of rare facial malformation in children
2. Researchers find reducing fishmeal hinders growth of farmed fish
3. Researchers unveil new assessment for diagnosing malnutrition
4. Researchers show prebiotic can reduce severity of colitis
5. Game on! UCLA researchers use online crowd-sourcing to diagnose malaria
6. Americas clean energy policies need a reality check, say Stanford researchers
7. Researchers find potential dark side to diets high in beta-carotene
8. Researchers at Hebrew University identify genetic systems disrupted in autistic brain
9. Light weights are just as good for building muscle, getting stronger, researchers find
10. Researchers develop rapid test strips for bacterial contamination in swimming water
11. Researchers question pulling plug on pacifiers
Post Your Comments:
*Name:
*Comment:
*Email:
(Date:4/2/2015)... GOTHENBURG, Sweden , April 2, 2015 ... for its touch fingerprint sensor FPC1025 from the distributor ... Deliveries will commence during Q2 2015 although the major ... 2015. The sensors will be used by smartphone manufacturers ... of 110 MSEK is included in the communicated revenue ...
(Date:4/1/2015)... 1, 2015   Medisafe ™, the leading global ... iOS and Android smartphones and ... into the platform to allow patients to track and ... first time, patients will be able to visualize in ... important biometrics, such as glucose levels and blood pressure. ...
(Date:3/31/2015)... March 31, 2015   Guidepoint , a leading ... the Post-Surgical Pain Management TRACKER, part of the ... trends in the medical device and therapeutics markets. The ... including treatment volumes, market share, and adoption rates across ... with joint surgery. The Post-Surgical Pain Management ...
Breaking Biology News(10 mins):Fingerprint Cards Receives Touch Fingerprint Sensor Order of SEK 110 Million 2Medisafe Announces Launch of Biometric Integration, Enabling Patients to Stay Adherent to Their Meds and See Tangible Health Results 2Guidepoint Launches Post-Surgical Pain Management TRACKER 2Guidepoint Launches Post-Surgical Pain Management TRACKER 3
... 2007 (Aliso Viejo, California) Ossur, an emerging leader ... a period of integration, is pleased to announce that ... of a two year cervical collar study performed by ... Tissue Interface Pressure from Four Cervical Collars, finds ...
... National Science Foundation has awarded Joan Edwards, the Washington ... professor of physics at Pomona College, a grant in ... of a high-speed imaging facility at Williams College for ... applications in the sciences. The project builds on ...
... researchers, in collaboration with the International Maize and ... research illustrates the major genetic improvements possible without ... use wild relatives of wheat as sources of ... team leader Dr Phil Larkin says. Unfortunately ...
Cached Biology News:Mayo Clinic study: Ossur's collars superior in immobilization and reduction of pressure 2NSF awards Williams funding for high-speed imaging faciltity 2Building disease-beating wheat 2
(Date:4/21/2015)... Staying true to their mission of ... product that makes the world a better place, the ... Institute (GBSI) to redesign their website ( http://www.gbsi.org ) ... strategy-based. , "Biomedical research is not always an easy ... promote it in a narrative way on a website," ...
(Date:4/21/2015)... 2015 Invetech , a global ... and contract manufacturing, and  NanoCellect Biomedical, a ... cell sorting technology for life science researchers, today ... cytometry platform. Headquartered in ... a microchip-based cell sorting technology. NanoCellect,s flow cytometry ...
(Date:4/21/2015)...  Tute Genomics, a leading provider of cloud-based genomic medicine ... as VP of Marketing. Mr. Forsythe is the latest to ... its commercial operations over the last two quarters. ... is a tremendous addition to the Tute Genomics team," ... Genomics. "Josh,s vast experience commercializing software technology in a highly ...
(Date:4/21/2015)... and RESEARCH TRIANGLE PARK, N.C. ... Corporation (NASDAQ: UTHR ) announced today that it ... market open on Tuesday, April 28, 2015. ... April 28, 2015, at 9:00 a.m. Eastern Time.  The ... dialing 1-970-315-0533.  A rebroadcast of the teleconference will be ...
Breaking Biology Technology:Visceral Tells GBSI’s Story Within 30 Seconds of Attention 2Visceral Tells GBSI’s Story Within 30 Seconds of Attention 3NanoCellect And Invetech Announce Collaboration To Develop Novel Flow Cytometry Platform For Cell Sorting And Analysis 2NanoCellect And Invetech Announce Collaboration To Develop Novel Flow Cytometry Platform For Cell Sorting And Analysis 3Tute Genomics Continues Expansion of Genomic Medicine Commercial Operations; Appoints Josh Forsythe as New VP of Marketing 2Tute Genomics Continues Expansion of Genomic Medicine Commercial Operations; Appoints Josh Forsythe as New VP of Marketing 3Tute Genomics Continues Expansion of Genomic Medicine Commercial Operations; Appoints Josh Forsythe as New VP of Marketing 4
... Aug. 11 /PRNewswire-FirstCall/ - MIGENIX Inc. ("MIGENIX"),announced today ... Holdings,Inc. ("DJohnson"), a significant shareholder of MIGENIX, that ... of shareholders scheduled for,October 31, 2008. As part ... of,its board of directors from seven members to ...
... CLAREMONT, Calif., Aug. 11 /Xinhua-PRNewswire-FirstCall/ --,Kiwa Bio-Tech Products ... the second quarter of 2008 ended June 30 ... $1,872,647 for the second,quarter of 2007. Revenues for ... 60% from the previous year., The significant ...
... 4:30 p.m. Eastern Time -, SAN FRANCISCO, Aug. ... on its corporate progress and financial,results for the quarter ... findings of the Dimebon 12-month pivotal,trial in Alzheimer,s disease ... results from our Phase 2 study in Huntington,s disease,announced ...
Cached Biology Technology:Migenix averts proxy contest; reaches agreement with DJohnson holdings 2Migenix averts proxy contest; reaches agreement with DJohnson holdings 3Migenix averts proxy contest; reaches agreement with DJohnson holdings 4Kiwa Bio-Tech 2nd Quarter Revenues Increase 61.7% to $3 Million, Six Month Revenues Top $5.2 Million 2Kiwa Bio-Tech 2nd Quarter Revenues Increase 61.7% to $3 Million, Six Month Revenues Top $5.2 Million 3Kiwa Bio-Tech 2nd Quarter Revenues Increase 61.7% to $3 Million, Six Month Revenues Top $5.2 Million 4Kiwa Bio-Tech 2nd Quarter Revenues Increase 61.7% to $3 Million, Six Month Revenues Top $5.2 Million 5Kiwa Bio-Tech 2nd Quarter Revenues Increase 61.7% to $3 Million, Six Month Revenues Top $5.2 Million 6Kiwa Bio-Tech 2nd Quarter Revenues Increase 61.7% to $3 Million, Six Month Revenues Top $5.2 Million 7Kiwa Bio-Tech 2nd Quarter Revenues Increase 61.7% to $3 Million, Six Month Revenues Top $5.2 Million 8Kiwa Bio-Tech 2nd Quarter Revenues Increase 61.7% to $3 Million, Six Month Revenues Top $5.2 Million 9Medivation Reports Second Quarter 2008 Financial Results and Provides Corporate Update 2Medivation Reports Second Quarter 2008 Financial Results and Provides Corporate Update 3Medivation Reports Second Quarter 2008 Financial Results and Provides Corporate Update 4Medivation Reports Second Quarter 2008 Financial Results and Provides Corporate Update 5Medivation Reports Second Quarter 2008 Financial Results and Provides Corporate Update 6Medivation Reports Second Quarter 2008 Financial Results and Provides Corporate Update 7Medivation Reports Second Quarter 2008 Financial Results and Provides Corporate Update 8
Human SOST Affinity Purified Polyclonal Ab...
Homo sapiens CDC23 (cell division cycle 23, yeast, homolog),...
Human FADD Affinity Purified Polyclonal Ab...
... triple quadrupole 1200L sets the new ... environment - incorporating the latest technologies ... liquid chromatography analytical needs. The ... the Transmission Quadrupole Analyzer provide superior ...
Biology Products: