Navigation Links
Gene Mutations Causing Rett Syndrome Occur in Both Sexes

tal progressive encephalopathy; unexplained central hypoventilation or respiratory insufficiency; abnormal movements; intractable seizures and abnormal tone. Three of the four cases had definitely pathogenic mutations and the fourth was potentially pathogenic. Acute observations and knowledge of the clinical picture of RTT prompted suspicion of MECP2 mutations in the four newly reported cases.

"While the findings of this study represent an important step forward in learning more about MECP2 mutations in infant males, many questions still remain regarding the role of the gene and its contribution to the encephalopathy of Rett syndrome," said Dr. Gary Goldstein, President and CEO of the Kennedy Krieger Institute. "To help answer these and other questions regarding RTT, Kennedy Krieger has played a leading role in organizing an international consortium of scientists from every major Rett center around the world to conduct clinical studies on the diagnosis and treatment of the disorder."

The consortium, called 'RettSearch,' will provide a forum for scientists to combine research efforts and share results from around the world. With only 15 cases of MECP2 mutations in infant males currently identified worldwide, researchers' observations are limited. Through the 'RettSearch' network, which is being coordinated by Dr. Kaufmann, scientists from Kennedy Krieger and other member institutions hope to identify additional cases and conduct multi-center trials with both males and females with MECP2 mutations and RTT.

About Rett Syndrome Rett Syndrome (RTT) is a neurological disorder often misdiagnosed as autism, cerebral palsy or non-specified developmental delay caused by a defective regulatory MECP2 gene found on the X chromosome. The disorder is seen almost exclusively in females. Unlike females, who have two X-chromosomes, males have an X and a Y chromosome. Because males lack a "backup" copy of the X chromosome that can compensate for a d
'"/>




Page: 1 2 3

Related medicine news :

1. Stem Cells Have Few Mutations
2. Mutations in NOTCH1 cause an early developmental defect in the aortic valve
3. Developing Countries Undertake Cataloguing of Human Mutations
4. New Technique Identifies Unknown Genetic Mutations That Can Cause Cancer
5. Scinetists Alert to Onset of Pandemic through Bird flu Mutations to Humans
6. Certain Gene Mutations Numbs Pain
7. Genetic Mutations - Key to Autism ?
8. Cancer Gene Mutations Not Uncommon in General Population
9. Computer Tool Helps Pinpoint Risky Gene Mutations
10. More Mutations Of Gene That Cause Skin Disorders And Asthma Discovered
11. Gene Mutations Behind Fidgety Kids: German Scientists
Post Your Comments:
*Name:
*Comment:
*Email:
TAG: Gene Mutations Causing Rett Syndrome Occur Both Sexes

(Date:6/2/2015)... Milton Hershey School® graduate Vincent Klomps ’10 ... of the Physician Assistant Program’s entering class of 2015 ... with a white coat, which symbolizes his entrance into ... of Vincent’s accomplishments both at MHS and postgraduation,” said ... of how a top-notch education can lead to achievement ...
(Date:6/2/2015)... (PRWEB) June 02, 2015 ANT Wireless, ... the market entry of two new products implementing the ... Trainer announce new wireless interoperability in their bike trainer ... for cyclists. Tacx has implemented the FE-C device profile ... as well as its new indoor training software, while ...
(Date:6/2/2015)... MAP Health Management, LLC, a provider of outcome data, ... facilities, announced today that Jared Smith has joined the ... be responsible for developing and implementing a marketing strategy ... message, products and initiatives. , Prior to joining MAP, ... in Irving, Texas, where he was responsible for developing ...
(Date:6/2/2015)... (PRWEB) June 02, 2015 DiaTech ... drug response profiling test to help oncologists provide ... College of American Pathologists (CAP) for its laboratories ... CAP certification is equivalent to the ‘Good Housekeeping’ ... and chief executive officer for DiaTech. “It’s a ...
(Date:6/2/2015)... 2015 For those that have ever ... to harmful germs, chemicals and bodily fluids from each ... an inventor from Queens Village, N.Y., their worries are ... efficient, fun, hygienic way to store and dispense toothpaste. ... bugs, chemicals and germs. Furthermore, it insures that all ...
Breaking Medicine News(10 mins):Health News:First ANT FE-C Enabled Fitness Products Enter Market 2Health News:First ANT FE-C Enabled Fitness Products Enter Market 3Health News:Jared Smith Joins MAP Health Management, LLC, as Vice President of Marketing 2Health News:DiaTech Oncology Gains College of American Pathologists Accreditation for U.S. CorrectChemo Laboratory 2Health News:Dental Storage and Dispensing Unit Invented by InventHelp Client (LGI-1890) 2
... GE Healthcare, the leading manufacturer of 3D/4D ultrasound ... Virginia Medical School (EVMS) obstetrician that can automate the ... fetal heart defects. GE Healthcare has licensed the software ... Alfred Abuhamad, M.D., chairman of obstetrics and gynecology at ...
... Communication and Compliance Important for Addressing ... Challenges Uncovered in Survey, AVENTURA, Fla., ... (UC) consider feeling unwell to be a,normal part of life, while ... UC patients, according to results from a,nationwide series of surveys presented ...
... First Oral Pharmacologic Agent Developed for the Treatment of Premature ... ... 7 Janssen-Cilag companies in,Europe have submitted a Marketing Authorisation Application ... years,of age., Premature ejaculation is a form of male sexual ...
... more than half, CDC study finds , FRIDAY, Dec. ... receiving the pneumococcal vaccine appears to be associated with ... to a new report from the U.S. Centers for ... 7-valent pneumococcal conjugate vaccine (PDV7) became part of the ...
... battle in fighting heart disease, ... Health Corp. CEO Gary Stanton., MELBOURNE, Fla., Dec. 7 ... heart disease all,in one Natural product. Lowering unhealthy cholesterol levels is ... build up of,plaque in the arteries and the heart muscle itself. ...
... AstraZeneca,CEO, and senior management from AstraZeneca (LSE: AZN) ... the biologics field, R&D and portfolio,progress plus the ... are available now on http://www.cantos.com ., ... do is register at, http://www.cantos.com ., Cantos.com ...
Cached Medicine News:Health News:Procedure to detect fetal heart defects is first automated use of 3-D ultrasound 2Health News:Procedure to detect fetal heart defects is first automated use of 3-D ultrasound 3Health News:Nationwide Survey Reveals Differing Physician and Patient Perceptions Regarding Impact of Ulcerative Colitis on Patients' Lives 2Health News:Nationwide Survey Reveals Differing Physician and Patient Perceptions Regarding Impact of Ulcerative Colitis on Patients' Lives 3Health News:Nationwide Survey Reveals Differing Physician and Patient Perceptions Regarding Impact of Ulcerative Colitis on Patients' Lives 4Health News:Nationwide Survey Reveals Differing Physician and Patient Perceptions Regarding Impact of Ulcerative Colitis on Patients' Lives 5Health News:Nationwide Survey Reveals Differing Physician and Patient Perceptions Regarding Impact of Ulcerative Colitis on Patients' Lives 6Health News:Nationwide Survey Reveals Differing Physician and Patient Perceptions Regarding Impact of Ulcerative Colitis on Patients' Lives 7Health News:Nationwide Survey Reveals Differing Physician and Patient Perceptions Regarding Impact of Ulcerative Colitis on Patients' Lives 8Health News:Submission of Marketing Authorisation Application for Dapoxetine in Europe 2Health News:Pneumonia Vaccine Is Keeping Kids Healthier 2Health News:New Health Corp. Introduces Heart Savior(TM), the Ultimate Natural Heart Health Product 2
(Date:6/2/2015)... , June 2, 2015 ... and segments the concerned market with analysis and ... $261.8 million in 2014, and is estimated to ... of 19.3% from 2014 to 2019. ... Simulation Market for an analysis of industry trends ...
(Date:6/2/2015)... , June 2, 2015 BioDelivery Sciences International, Inc. ... the presentation by Dr. Mark A. Sirgo , President ... 2:30 PM Eastern time. Jefferies 2015 Global Healthcare ... Hyatt, New York City , NY ... accessed at www.bdsi.com .  For those who are not ...
(Date:6/2/2015)... -- Only a quarter of physicians who prescribe opioids say ... them to, according to new survey results released by ... and myCME , Haymarket Medical Education,s global medical ... director of BUSM,s Safe and Competent Opioid Prescribing ... a critical need for provider education addressing this issue. ...
Breaking Medicine Technology:North America Mannequin-Based Simulation Market is Expected to Reach $632.5 Million by 2019, at a CAGR of 19.3% From 2014 to 2019 2North America Mannequin-Based Simulation Market is Expected to Reach $632.5 Million by 2019, at a CAGR of 19.3% From 2014 to 2019 3BioDelivery Sciences to Present at the Jefferies 2015 Healthcare Conference - Schedule Change 2BioDelivery Sciences to Present at the Jefferies 2015 Healthcare Conference - Schedule Change 3Survey Results Show Few Doctors Are Very Confident Managing Patients on Opioids 2
... ... Jolla-, ... /PRNewswire-,FirstCall/ -- Poniard Pharmaceuticals, Inc. (Nasdaq: PARD ), a,biopharmaceutical company ... organization, today announced,that an agreement has been executed licensing classes of ...
... The Quigley,Corporation (Nasdaq: QGLY ) announced positive ... subsidiary, Quigley Pharma Inc., which was,conducted in chickens ... The compound was administered to chicks that had ... from the study indicated,that QR448(a) is efficacious against ...
Cached Medicine Technology:Poniard Pharmaceuticals Licenses Kinase Inhibitors From The Scripps Research Institute 2Poniard Pharmaceuticals Licenses Kinase Inhibitors From The Scripps Research Institute 3Poniard Pharmaceuticals Licenses Kinase Inhibitors From The Scripps Research Institute 4Quigley Announces Successful Poultry Study of Chickens With Infectious Bronchitis; Plans to Approach the Poultry Industry for Potential Commercialization 2Quigley Announces Successful Poultry Study of Chickens With Infectious Bronchitis; Plans to Approach the Poultry Industry for Potential Commercialization 3Quigley Announces Successful Poultry Study of Chickens With Infectious Bronchitis; Plans to Approach the Poultry Industry for Potential Commercialization 4Quigley Announces Successful Poultry Study of Chickens With Infectious Bronchitis; Plans to Approach the Poultry Industry for Potential Commercialization 5
... ARUP Laboratories is a national reference ... laboratory research and development. ARUP offers an ... unique medical tests in clinical and anatomic ... ARUP Laboratories' clients include more than half ...
... reference laboratory and a worldwide leader in ... an extensive test menu of highly complex ... anatomic pathology. Owned by the University of ... half of the nation's university teaching hospitals ...
... a national reference laboratory and a worldwide ... ARUP offers an extensive test menu of ... clinical and anatomic pathology. Owned by the ... more than half of the nation's university ...
... reference laboratory and a worldwide leader in ... an extensive test menu of highly complex ... anatomic pathology. Owned by the University of ... half of the nation's university teaching hospitals ...
Medicine Products: