Navigation Links
Mouse model provides a new tool for investigators of human developmental disorder
Date:4/20/2009

April 21, 2009, Cambridge, UK Wolf-Hirschhorn Syndrome (WHS) is a human disease caused by spontaneous genetic deletions. Children born with WHS have a characteristic set of facial features, including a wide flat nose bridge, downturned mouth, high forehead, and highly arched eyebrows. Other symptoms associated with this disease include heart defects, seizures, mental retardation, and skeletal abnormalities, and the severity of these symptoms varies between individual WHS patients.

While it was known that WHS is related to a genetic deletion in chromosome 4, the specific gene or genes affected were unknown. Now, a study by scientists at the European Molecular Biology Laboratory demonstrates that a gene called Fgfrl1 (Fibroblast growth factor receptor-like 1) plays a key role in WHS.

This report published in Disease Models & Mechanisms (DMM), dmm.biologists.org describes how they modify the Fgrfrl1 gene so that it loses function, then express the gene in mice. Fgfrl1 in humans is located on the short arm of chromosome 4 and mice born with the modified Fgfrl1 gene have a variety of physical features that are similar to characteristics seen in WHS patients. For example, the mice are born with heart defects due to thickening of the cardiac valves, and they have abnormal facial and skeletal structures compared to normal mice. The mutant mice also have deformities in throat cartilage structures, which may provide insight to the swallowing and speaking difficulties experienced by many WHS patients.

This mouse model of WHS provides a valuable new tool for researchers studying this developmental disorder. It provides a new avenue for molecular research through study of Fgrf1 function, but also allows scientists to understand how structural defects might contribute to WHS symptoms, as is the case in the heart defects and swallowing difficulties.

The report, "Multiple congenital mal
'/>"/>

Contact: Donna Perry
donna@biologists.com
44-012-234-33319
The Company of Biologists
Source:Eurekalert

Page: 1 2

Related biology news :

1. CSHL team develops mouse models of leukemia that predict response to chemotherapy
2. Brain building: Study shows brain growth tied to cell division in mouse embryos
3. A worm-and-mouse tale: B cells deserve more respect
4. Salk researchers develop novel glioblastoma mouse model
5. Peering inside the skull of a mouse to solve meningitis mystery
6. Multiple sclerosis research charges ahead with new mouse model of disease
7. Anti-cancer drug prevents, reverses cardiovascular damage in mouse model of premature aging disorder
8. Anything but modest: The mouse continues to contribute to humankind
9. Let the cat keep chasing the mouse
10. Mouse model developed at UT Southwestern mimics hyperglycemia, aids in diabetes research
11. Disabling mouse enzyme increases fertility
Post Your Comments:
*Name:
*Comment:
*Email:
(Date:10/15/2014)... risk from strains of influenza virus increases with the ... become complacent that the most substantial threats have been ... pandemics arise when a new virus strain – against ... spreads in the human population. There have been five ... of which – the 1918 Spanish Flu – cost ...
(Date:10/15/2014)... rapidly and to an unexpected extent. The outbreak does ... the virus shows a new disease dynamic in regions, ... reason, the German National Academy of Sciences Leopoldina, acatech ... the Union of the German Academies of Sciences and ... today. , In the statement the academies call for ...
(Date:10/15/2014)... awarded the 44th Rosenstiel Award for Distinguished Work in ... exploring the mechanisms of genomic instability and its implications ... the second alumnus to win the Rosenstiel Award; the ... , Alt is the Charles A. Janeway Professor of ... and an investigator at the Howard Hughes Medical Institute ...
Breaking Biology News(10 mins):Scientists 'must not become complacent' when assessing pandemic threat from flu viruses 2Academies call for consequences from the Ebola virus epidemic 2Academies call for consequences from the Ebola virus epidemic 3Academies call for consequences from the Ebola virus epidemic 4Academies call for consequences from the Ebola virus epidemic 5Brandeis awards 44th Rosenstiel Award to pioneering geneticist Fred Alt 2
... Earth,s supply of oil are unwarranted, according to new research, ... to the supply will reach its own peak and ... of everything from a calm development of alternatives to calamitous ... its peak of oil production and then supplies fall. ...
... develop a safer form of acetaminophen the pain and ... have led to discovery of substances that may have ... the research appears in ACS Medicinal Chemistry Letters . ... exists between acetaminophen and liver damage. The damage may be ...
... a concept to potentially improve delivery of drugs for ... the presence of higher acidity found in tumor cells. ... polybases," compounds that expand when transported into environments mimicking ... tissues. The researchers used sophisticated modeling to show how ...
Cached Biology News:Stanford researchers say 'peak oil' concerns should ease 2Stanford researchers say 'peak oil' concerns should ease 3Nanoparticles, 'pH phoresis' could improve cancer drug delivery 2
(Date:10/25/2014)... , October 24, 2014 ... http://www.researchandmarkets.com/research/t5t5pd/the_global_market ) has announced the addition of ... Graphene And Other 2-D Nanomaterials "  report ... http://photos.prnewswire.com/prnh/20130307/600769) , ,CNTs and graphene are the ... to man, with a performance-per-weight greater than ...
(Date:10/22/2014)... The Americas Inorganic Refrigerants Market report ... Americas with analysis and forecast of revenue. , ... Refrigerants Market report, to get an idea of ... glimpse of the segmentation in the Americas inorganic ... and figures. , http://www.micromarketmonitor.com/market/americas-inorganic-refrigerants-4191654241.html , ...
(Date:10/22/2014)... 2014 WriteResult, LLC – a ... been working with a team of researchers from Yale ... Community Farming Collaborative to provide electronic questionnaire data collection ... study, which started in May, aims to evaluate the ... weekly exposure to and participation in urban agriculture to ...
(Date:10/22/2014)... (PRWEB) October 22, 2014 According ... Market by Service Type (Consulting, Integration, Deployment & ... by Deployment Model (Public, Private, Others (Hybrid & ... MarketsandMarkets, defines and segments the Cloud Professional Services ... and forecasting of revenues. It also identifies the ...
Breaking Biology Technology:The Global Market for Carbon Nanotubes, Graphene and Other 2-D Nanomaterials 2The Global Market for Carbon Nanotubes, Graphene and Other 2-D Nanomaterials 3The Global Market for Carbon Nanotubes, Graphene and Other 2-D Nanomaterials 4The Americas Inorganic Refrigerants Market is estimated to grow to $71.6 million by 2018 - New Report by MicroMarket Monitor 2The Americas Inorganic Refrigerants Market is estimated to grow to $71.6 million by 2018 - New Report by MicroMarket Monitor 3myPROpad™ Topic of Panel Discussion at the Yale Food Systems Symposium 2myPROpad™ Topic of Panel Discussion at the Yale Food Systems Symposium 3Cloud Professional Services Market by Public, Private, Hybrid & Community Expected to Reach $34.41 Billion by 2019 - New Report by MarketsandMarkets 2Cloud Professional Services Market by Public, Private, Hybrid & Community Expected to Reach $34.41 Billion by 2019 - New Report by MarketsandMarkets 3Cloud Professional Services Market by Public, Private, Hybrid & Community Expected to Reach $34.41 Billion by 2019 - New Report by MarketsandMarkets 4Cloud Professional Services Market by Public, Private, Hybrid & Community Expected to Reach $34.41 Billion by 2019 - New Report by MarketsandMarkets 5
... Oct. 12 Solutia Inc. (NYSE: ... chemicals company, has opened a new Photovoltaic Laboratory ... fast-growing solar energy market. (Logo: ... ) The state-of-the-art facility is a ...
... Oct. 11 Donald Galen, M.D., one of California,s earliest ... of medical technology that stunned the world in 1978 are ... in vitro fertilization (IVF) for humans, Professor Robert ... Medicine. Galen, surgical and research director ...
... India has evolved into a preferred destination for conducting ... bodies have created an environment which is focused on ... meet the requirements of ICH GCP, ICMR (Indian Council ... across the globe. Owing to the ...
Cached Biology Technology:Solutia Opens New Photovoltaic Laboratory 2Solutia Opens New Photovoltaic Laboratory 3California IVF Pioneer Donald Galen, M.D., Trained With Nobel Winner 2India's Favorable and Progressive Regulatory Environment Causes Accelerated Growth of Max Neeman International's Regulatory Services 2
... The LAB PAL label printer is portable, ... and efficient. Portable/Handheld Easy to ... Pre-programmed vial and slide sizes ... Affordable-every tech needs one Serialization ...
... [125I] Direct SPA Screening Assay, ... reagents that eliminate lengthy sample extraction ... (optional use).Range: 1.32-84.28 ng/ml (4-256 pmol/ml).Sensitivity: ... at 2-8 C. Category: Drug Screening ...
The E. coli Expression System with Gateway Technology is designed to create E. coli expression clones containing the T7 promoter. The expression clones are ready for transformation and expression in ...
... synthase, cytoplasmic (C1-THF ... dehydrogenase (EC 1.5.1.5); ... 3.5.4.9); Formyltetrahydrofolate synthetase ... ...
Biology Products: