Navigation Links
Double-teaming a whole-genome hunt
Date:7/12/2010

ly to cause a loss of function of the gene, disabling its ability to manufacture normal protein, Sobreira explains. She said that gave credibility to the possibility that PTPN11 was responsible for metachondromatosis, which gives rise to different physical characteristics.

To confirm their suspicions, the team first checked to see if all affected members of the family in the linkage studies had the mutation and if all unaffected members didn't. The answer was yes.

The next and final assurance needed to prove that this gene was responsible for metachondromatosis was to find the same mutation of the same gene in an affected person unrelated to the family originally studied. The Hopkins team located a second family already seeking treatment at the Greenburg Center for Skeletal Dysplasias and confirmed that mutations, causing a loss of function of the PTPN11 gene, caused metachondromatosis.

"This discovery has given us clues about the molecular basis of other genetic diseases for which a cause remains unknown and that are not benign like this one," Sobreira says.


'/>"/>

Contact: Maryalice Yakutchik
myakutc1@jhmi.edu
443-287-2251
Johns Hopkins Medical Institutions
Source:Eurekalert

Page: 1 2 3

Related biology news :

1. Stimulus grant to fund whole-genome sequencing in children with autism
Post Your Comments:
*Name:
*Comment:
*Email:
(Date:7/10/2014)... Ouagadougou, Burkina Faso, July 10, 2014Women in the ... to an additional family planning option. Sayana Press ... at all levels of the health system and ... a widely used contraceptivePfizer,s Depo-Provera (depot medroxyprogesterone acetate)with ... is the first of four African countries expected ...
(Date:7/9/2014)... by Caesarean section have a different intestinal flora than children ... this is the case and what it means for the ... Sciences therefore decided to scrutinise the impact of birth on ... newborn mouse pups. , The study shows ... number of cells that strengthen the immune system, says Camilla ...
(Date:7/9/2014)... hunts in Indiana state parks have helped restore the ... by overabundant populations of white-tailed deer, a Purdue study ... associate professor of forest ecology, found that a 17-year-long ... in state parks has successfully spurred the regrowth of ... browsing deer. , Jenkins said that while hunting ...
Breaking Biology News(10 mins):Injectable contraceptive launched in Burkina Faso to expand choice and address unmet need 2Injectable contraceptive launched in Burkina Faso to expand choice and address unmet need 3Mouse study: Natural birth may strengthen the immune system 2Hunting gives deer-damaged forests in state parks a shot at recovery 2
... Gutenberg University Mainz (JGU) in Germany have discovered that ... barnacles, bacteria, and algae on surfaces in contact with ... platforms. Their experiments showed that steel plates to which ... applied could be exposed to seawater for weeks without ...
... R.I. [Brown University] What makes laparoscopic surgery "minimally invasive" ... makes it visually constraining. As they work on different tasks, ... could control a separate view best suited to the specific ... and his team of co-authors at Brown University and Hasbro ...
... Tokyo, July 2, 2012 - RIKEN and Fujitsu today announced ... been completed as of June 29. The K computer will ... environment settings, adjustments, and user registration. It is due to ... of September. Background Working together under ...
Cached Biology News:Paints and coatings containing bactericidal agent nanoparticles combat marine fouling 2Paints and coatings containing bactericidal agent nanoparticles combat marine fouling 3Individual perspectives improve laparoscopy 2Individual perspectives improve laparoscopy 3RIKEN and Fujitsu complete operational testing of the K computer 2RIKEN and Fujitsu complete operational testing of the K computer 3
(Date:1/15/2014)... Freeslate, Inc ., the leading provider of ... one of India’s top five pharmaceutical companies, has received ... for high throughput solid form screening. , Lupin, ... range of quality, affordable generic and branded formulations and ...
(Date:1/14/2014)... Date: Friday, April 11, 2014 , Time: 6 p.m. ... Road, Warrington, Pa. , Details: The Hepatitis B ... a cure for hepatitis B and improving the quality of ... Ball on Friday, April 11 at Warrington Country Club in ...
(Date:1/14/2014)... 2014  3D Communications, a leading provider of strategic communications services to ... events in the United States and ... Cox , JD, is returning to the firm,s Washington, ... 3D after more than two years of service as Associate Commissioner ...
(Date:1/14/2014)... Texas , Jan. 14, 2014 The ... and research medicinal plants and therapeutic derivatives thereof ... health professionals, and researchers about the challenges of ... http://photos.prnewswire.com/prnh/20100430/DC95601LOGO ) The Society ...
Breaking Biology Technology:Lupin Selects Freeslate’s CM Protégé PharmD System to Accelerate Polymorph Screening for Drug Development 2Lupin Selects Freeslate’s CM Protégé PharmD System to Accelerate Polymorph Screening for Drug Development 3Hepatitis B Foundation to Host Annual Crystal Ball Gala 2Former FDA Associate Commissioner Returns To 3D Communications 2World's Largest Group of Medicinal Plant Researchers Endorses ABC-AHP-NCNPR Botanical Adulterants Program 2World's Largest Group of Medicinal Plant Researchers Endorses ABC-AHP-NCNPR Botanical Adulterants Program 3World's Largest Group of Medicinal Plant Researchers Endorses ABC-AHP-NCNPR Botanical Adulterants Program 4World's Largest Group of Medicinal Plant Researchers Endorses ABC-AHP-NCNPR Botanical Adulterants Program 5World's Largest Group of Medicinal Plant Researchers Endorses ABC-AHP-NCNPR Botanical Adulterants Program 6World's Largest Group of Medicinal Plant Researchers Endorses ABC-AHP-NCNPR Botanical Adulterants Program 7World's Largest Group of Medicinal Plant Researchers Endorses ABC-AHP-NCNPR Botanical Adulterants Program 8
... 2011 Fiscal Year Guidance -- HARBIN, China, Sept. 14 /PRNewswire-Asia-FirstCall/ -- ... ... ... var first_result; // Results are keyed by longUrl, so we need to grab the first one. for ...
... DIEGO, Sept. 14 Optimer Pharmaceuticals, Inc. (Nasdaq: ... from its North American and European fidaxomicin Phase ... difficile infection (CDI) was presented at the ... Chemotherapy (ICAAC) in Boston. (Logo: ...
... (Nasdaq: IPHS ), a leading North American specialty ... will address the 2010 Oppenheimer Industrials Conference in New York ...   To access a live or replay webcast ... Relations Events section.  The replay will be available until December ...
Cached Biology Technology:Weikang Bio-Technology Issues 2010 and 2011 Fiscal Year Guidance 2Weikang Bio-Technology Issues 2010 and 2011 Fiscal Year Guidance 3Weikang Bio-Technology Issues 2010 and 2011 Fiscal Year Guidance 4Weikang Bio-Technology Issues 2010 and 2011 Fiscal Year Guidance 5Weikang Bio-Technology Issues 2010 and 2011 Fiscal Year Guidance 6Weikang Bio-Technology Issues 2010 and 2011 Fiscal Year Guidance 7Weikang Bio-Technology Issues 2010 and 2011 Fiscal Year Guidance 8Optimer Announces Presentation of Additional Data from Fidaxomicin Phase 3 Study for the Treatment of Clostridium difficile Infection (CDI) Presented at ICAAC 2Optimer Announces Presentation of Additional Data from Fidaxomicin Phase 3 Study for the Treatment of Clostridium difficile Infection (CDI) Presented at ICAAC 3Optimer Announces Presentation of Additional Data from Fidaxomicin Phase 3 Study for the Treatment of Clostridium difficile Infection (CDI) Presented at ICAAC 4Optimer Announces Presentation of Additional Data from Fidaxomicin Phase 3 Study for the Treatment of Clostridium difficile Infection (CDI) Presented at ICAAC 5Optimer Announces Presentation of Additional Data from Fidaxomicin Phase 3 Study for the Treatment of Clostridium difficile Infection (CDI) Presented at ICAAC 6Optimer Announces Presentation of Additional Data from Fidaxomicin Phase 3 Study for the Treatment of Clostridium difficile Infection (CDI) Presented at ICAAC 7
... Human Genetic Cell Bank Service The ... based on Epstein-Barr Virus (EBV) immortalisation of ... the production of lymphoblastoid cell lines (LCLs). ... a renewable and expandable source of genomic ...
... identification through targeting resequencing. This ... assay validation/optimization, high throughput PCR setup ... samples and sequence alignment and analysis.,Agencourts ... and highly accurate identification of SNP ...
... Luciferase-based ENGENISTM (Entire Gene/cDNA or Isolated ... provide a quantitative approach for evaluation of ... serve as an efficient target for RNA ... algorithms are not perfect, leaving the probability ...
... Stabilizer is a is a bovine protein-free ... product is an aqueous solution that contains ... buffered saline), pH 6.6 - 7.2. ... methylisothiazolone and 0.02% bromonitrodioxane as a preservative. ...
Biology Products: