Navigation Links
Researchers pinpoint genetic pathway of rare facial malformation in children
Date:5/3/2012

h as craniofacial microsomia, are also caused by genes in this pathway."

ACS, a syndrome first described by scientists in 1978, is believed to affect less than one in 50,000 births, though the precise frequency is not known. It is not uncommon for the condition to be misdiagnosed or for diagnosis to be delayed. According to Dr. Cunningham it was the precision of case choice that allowed this discovery.

Of the five cases studied, two of the parents did not have this condition but were carriers for the mutation. "Now that we know the genetic pathway for ACS, we will be able to better identify and counsel people who have normal facial appearances but carry these genes, about the likelihood of passing on this mutation to their children,'' Dr. Cunningham said.


'/>"/>

Contact: Mary Guiden
mary.guiden@seattlechildrens.org
206-987-7334
Seattle Children's
Source:Eurekalert  

Page: 1 2

Related biology news :

1. Researchers find reducing fishmeal hinders growth of farmed fish
2. Researchers unveil new assessment for diagnosing malnutrition
3. Researchers show prebiotic can reduce severity of colitis
4. Game on! UCLA researchers use online crowd-sourcing to diagnose malaria
5. Americas clean energy policies need a reality check, say Stanford researchers
6. Researchers find potential dark side to diets high in beta-carotene
7. Researchers at Hebrew University identify genetic systems disrupted in autistic brain
8. Light weights are just as good for building muscle, getting stronger, researchers find
9. Researchers develop rapid test strips for bacterial contamination in swimming water
10. Researchers question pulling plug on pacifiers
11. UCSD researchers: Where international climate policy has failed, grassroots efforts can succeed
Post Your Comments:
*Name:
*Comment:
*Email:
Related Image:
Researchers pinpoint genetic pathway of rare facial malformation in children
(Date:8/4/2015)... 2015 Research ... the addition of the "Digital Forensics ... Sub-Segment (Computer Forensics, Network Forensics, Mobile Device ... Vertical and Region - Global Forecast to ... By Component (Hardware, Software, and Service), ...
(Date:7/31/2015)... , Kina, 31. juli 2015 Den ... bliver afholdt af BGI fra den 22. - 25. oktober ... Konferencen fejrer sin 10-års fødselsdag i år. Siden ... mest indflydelsesrige årlige møder på ,omik,-feltet, og er en ... ICG-10 fokuserer på nylige gennembrud og ...
(Date:7/31/2015)... Chine, 31 juillet 2015 La 10e ... ) sera organisée par le BGI du 22 ... en Chine. La conférence ... inauguration en 2006, l,ICG est devenue l,une des ... domaine des « omiques » et c,est aussi la plus ...
Breaking Biology News(10 mins):Digital Forensics Market - The Market Represents a Compound Annual Growth Rate (CAGR) of 11.3% From 2015 to 2020 2Den 10. internationale konference om Genomics (ICG-10) åbner i oktober 2La 10e International Conference on Genomics (ICG-10) doit s'ouvrir en octobre 2La 10e International Conference on Genomics (ICG-10) doit s'ouvrir en octobre 3
... that the HPV vaccine did not have significant effects on ... with inactive SLE receiving stable doses of medications after administration, ... in this group of patients. SLE, an autoimmune disorder, affects ... shown that the rate of HPV in this group is ...
... available in French . MONTREAL, March ... of the drug metyrapone reduces the brain,s ability to re-record ... Montreal researchers at the Centre for Studies on Human Stress ... that memories cannot be modified once they are stored in ...
... of sea creatures around the sub-Antarctic island of South ... than even many tropical sites, such as the Galapagos ... how these species will respond to future environmental change. ... PLoS ONE , the team from British Antarctic Survey ...
Cached Biology News:Study shows the HPV vaccine Gardasil doesn't increase disease activity in SLE patients 2Drug may help overwrite bad memories 2
(Date:8/27/2015)... , Aug. 27, 2015 HUYA Bioscience International ... of the Japan Society of HTLV-1, held this week ... The purpose of the Society is to promote research ... development of medical technology and research related to these ... "HUYA is proud to support this prestigious ...
(Date:8/27/2015)... N.C. , Aug. 27, 2015 ... decision by FedEx, UPS and The US Postal ... biological specimens classified as ,select agents, by the ... history of handling these sensitive shipments. ... global transportation regulations, trained and certified personnel to ...
(Date:8/26/2015)...  Roka Bioscience, Inc. (NASDAQ: ROKA ), a ... for the detection of foodborne pathogens, today announced that ... & Company Emerging Growth Conference on September 2 at ... New York Marriott Marquis. A live ... investor relations section of Roka Bioscience,s website at ...
(Date:8/26/2015)... Aug. 26, 2015 Intrexon Corporation (NYSE: ... the closing of its previously announced public offering of ... underwriters of their option to purchase an additional 731,707 ... of $41.00 per share.  The exercise of the underwriters, ... stock sold by Intrexon to 5,609,756 shares and increased ...
Breaking Biology Technology:HUYA Bioscience International Sponsors Japan Society Of HTLV-1 Annual Meeting 2HUYA Bioscience International Sponsors Japan Society Of HTLV-1 Annual Meeting 3HUYA Bioscience International Sponsors Japan Society Of HTLV-1 Annual Meeting 4Marken Ensures Safe Transportation Of Select Agents And Toxins 2Intrexon Announces Closing of $230 Million Public Offering of Common Stock including Full Exercise of Underwriters' Option to Purchase Additional Shares 2Intrexon Announces Closing of $230 Million Public Offering of Common Stock including Full Exercise of Underwriters' Option to Purchase Additional Shares 3Intrexon Announces Closing of $230 Million Public Offering of Common Stock including Full Exercise of Underwriters' Option to Purchase Additional Shares 4
... SAN DIEGO, Dec. 15, 2010 Ocera Therapeutics, ... studies evaluating the safety and pharmacokinetics of OCR-002 ... with liver cirrhosis.  OCR-002 recently received Orphan Drug ... States Food and Drug Administration for the treatment ...
... Dec. 14, 2010 Reportlinker.com announces that a ... catalogue: 2010 Membrane and Separation ... FOREWORD  ... as the myriad applications they are called upon ...
... Cylex Incorporated® today announced that the Centers ... tripled the reimbursement for ImmuKnow® , the immune ... cell-mediated immune response in populations undergoing immunosuppressive therapy ... in a time when the overall CMS clinical ...
Cached Biology Technology:Ocera Therapeutics Completes First in Human Studies with OCR-002 for the Treatment of Hyperammonemia and Hepatic Encephalopathy 2Ocera Therapeutics Completes First in Human Studies with OCR-002 for the Treatment of Hyperammonemia and Hepatic Encephalopathy 3Reportlinker Adds 2010 Membrane and Separation Technology Research Review 2Reportlinker Adds 2010 Membrane and Separation Technology Research Review 3Reportlinker Adds 2010 Membrane and Separation Technology Research Review 4Reportlinker Adds 2010 Membrane and Separation Technology Research Review 5Reportlinker Adds 2010 Membrane and Separation Technology Research Review 6Reportlinker Adds 2010 Membrane and Separation Technology Research Review 7Reimbursement Rate Nearly Tripled for Cylex's ImmuKnow® Assay 2
... UNIchip AV-400 contains 400 unique human ... glass slide. The proteins, all extracellular ... classification, are arrayed in quadruplicate for ... a specific chip layout guarantee high ...
... is >95%NEN Radiolabeled Ligands\n\nReceptor-related research has long ... new radiolabeled ligands selected to keep pace ... range of products and services for receptor ... state-of-the-art radioligands. If you do not find ...
Sterile detoxified 10% bovine serum albumin (BSA) in Iscoves MDM. This BSA has been selected to support the optimal colony growth of human hematopoietic progenitor cells in methylcellulose-based medi...
... Coupled Reticulocyte Lysate Systems(a,b,c,d) offer researchers ... translations: a single-tube, coupled transcription/translation system. ... the process and reduce the time ... results. Standard rabbit reticulocyte lysate translations ...
Biology Products: