Navigation Links
Missense in Medical News

JCI table of contents: March 23, 2009

...nce of the data and suggests how they might explain some of the clinical situations in which critically ill patients have low Mg2+ levels. TITLE: A missense mutation in the Kv1.1 voltage-gated potassium channelencoding gene KCNA1 is linked to human autosomal dominant hypomagnesemia AUTHOR CONTACT: Ren ...

H-ras gene mutation linked to Costello Syndrome

...rom blood, saliva or cell lines and performed DNA sequencing. When possible, they also sequenced the genes of the patients' parents. The nature of the missense mutations, along with the paternal age effect observed in Costello syndrome suggests a paternal origin of the mutations, the researchers report. S...

Risk of preeclampsia in pregnant mothers may be inherited

... complications to the pregnant mother and unborn child. Scientists have identified a gene called STOX1 or C10orf24 that contained five different missense mutations, which are identical between sisters. This exists with preeclampsia phenotype and follows inheritance from the mother. Four STOX1 transcript...
Missense in Biological News

Joining forces to improve lung cancer treatment

...th dose-per-fraction escalation for treatment of stage III non-small-cell lung cancer (Poland) Confirmation that EGFR mutations (deletion in exon 19, missense L858R) are the most important predictors of sensitivity to tyrosine-kinase inhibitor targeted therapies (Italy) Barbara Zolty from the World Healt...

Genetic mutation causes familial susceptibility for degenerative brain disease

...research, especially our unexpected finding that a missense mutation in part of the nuclear pore predisposes i...aused by ANE, it's very important to determine how missense mutations in RANBP2 predispose certain people to t...ents showing symptoms consistent with ANE. In a missense gene mutation, a single portion of the gene's DNA ...

Researchers discover gene for branchio-oculo-facial syndrome

...on and two sporadic BOFS cases and found a small deletion on chromosome 6 in the mother and son. Sequencing of genes in this candidate region revealed missense mutations clustered in the basic region of the DNA-binding domain of the TFAP2A gene in 4 sporadic BOFS patients. According to lead author Jeff Mil...

JCI table of contents: Aug. 16, 2007

...lcinosis and gives clinicians a new candidate gene to consider when attempting to determine the etiology of tumoral calcinosis. TITLE: A homozygous missense mutation in human KLOTHO causes severe tumoral calcinosis AUTHOR CONTACT: Michael J. Econs Indiana University School of Medicine, Indianapolis, Ind...

Gene malfunctions cause schizophrenia, depression symptoms in mice

...xplore novel treatment and preventative strategies for certain symptoms of major mental illness," they wrote. "We have shown that two independent missense mutations in mouse Disc1 elicit distinct physiological, pharmacological, neuroanatomical, and behavioral phenotypes, which when taken together are str...

Novel EGFR ectodomain mutations in glioblastoma

...GFR gene in more than 100 glioblastomas. Nearly 15% of the tumors contained missense mutations—changes that altered the amino acid sequence of EGFR. But the m... mapped to the extracellular domain of the protein. These findings identify missense mutations in the extracellular domain of EGFR as a new way to oncogenically...
Missense in Biological Technology

Detection of Apolipoprotein Gene Variants by DGGE Using the DCode System

... cause the disorder familial ligand-defective apoB (FDB) 5, 6, 7 were detected by DGGE (Figure 3, lanes 3, 4 and 5). In addition, a rare missense mutation at codon 3480 (Figure 3, lane 1) and a new silent mutation (Figure 3, lane 2) were detected. ...

Detection of Mutations in the CYP21 Gene Using the DCode System

... Genet., 9 (2):1812 (1997). 8. Lajic, S., Levo, A., Nikoshkov, A., Lundberg, Y., Partanen, J., and Wedell, A., A cluster of missense mutations at Arg356 of human steroid 21-hydroxylase may impair redox partner interaction, Hum. Genet., 99 (6):7049 (1997). ...
Missense in Biological Dictionary

Missense Mutation

... In genetics, a missense mutation is a point mutation in which a singl..., sickle-cell disease, and SOD1 mediated ALS . missense mutations . With a missense mutation , the new nucleotide alters the codo...
Other Tags
(Date:9/22/2014)... California (PRWEB) September 22, 2014 Plugin ... of ProSparkle. A fully customizable 3D particle emitter made ... “Adding the ProSparkle particle emitter plugin to a video ... Christina Austin, CEO of Pixel Film Studios. “ProSparkle gives ... described as cool” , With ProSparkle users are given ...
(Date:9/22/2014)... 2014 The Ruby Report was launched ... PWN International Conference in Louisville, Kentucky. This release followed ... with a reception attended by 60 people from the ... she had gained while conducting her research, what drove ... ceiling issue, and what she believes companies can do ...
(Date:9/21/2014)... of an infant prior to 37 weeks of pregnancy ... over the past two decades. According to the ... affects nearly 500,000 babies each year, or one of ... has improved survival rates for preterm infants, questions remain ... preterm infants. , Research led by Barry M. Lester, ...
(Date:9/21/2014)... 21, 2014 Hastings and Hastings, a ... record demand for aggressively discounted accident victim attorney’s fees. ... the Valley each year, it is more important than ... discounted attorney’s fees as a way to enjoy more ... has been a frontrunner when it comes to delivering ...
(Date:9/21/2014)... BC (PRWEB) September 21, 2014 Burnaby ... educational information to clients in order to help them ... sessions held at the clinic that will help clients ... they can also take active participation in the healing ... and posture, clients will be able to facilitate the ...
Breaking Medicine News(10 mins):Health News:Announcing a new ProSparkle Particle Emitter Pack from Pixel Film Studios for Final Cut Pro X Professionals 2Health News:Ruby Report Book Launch Reveals Critical Insights on Gender Intelligence 2Health News:Research evaluates neurodevelomental and medical outcomes in single family room NICU 2Health News:Research evaluates neurodevelomental and medical outcomes in single family room NICU 3Health News:Hastings & Hastings Announces Record Demand For Aggressively Discounted Accident Victim Attorney’s Fees 2Health News:Hastings & Hastings Announces Record Demand For Aggressively Discounted Accident Victim Attorney’s Fees 3Health News:Burnaby Physiotherapists Now Provide Educational Information for Preventative Care 2
(Date:9/19/2014)... fairness did not evolve for the sake of fairness ... of continued cooperation, so say Frans de Waal, PhD, ... about inequity aversion (IA), which is defined as a ... in Science . , Their conclusion comes ... to address their hypothesis that it is the evolution ...
(Date:9/19/2014)... 2014 Nxt-ID, Inc. (Nasdaq: NXTD and ... the growing m-commerce market, updates the "Wocket in Your Pocket" celebrity ... and light middleweight weight classes, Vinny Pazienza (PAZ). ... Game of Thrones actor Ciaran Hinds and ... star Katey Sagal have been cast in Bleed ...
(Date:9/18/2014)... State University researchers have developed a unique method to ... cleanup in rural areas. , The first microbe-powered, ... and quick way to clean up waste from large ... pollution. , Professor Haluk Beyenal and graduate student ... Architecture discuss the system in the online edition of ...
Breaking Biology News(10 mins):Evolution of responses to (un)fairness 2Evolution of responses to (un)fairness 3NXT-ID's Vinny Paz Celebrity Ad Wocket Update: Katey Sagal and Ciaran Hinds Attached to His Upcoming Movie 2NXT-ID's Vinny Paz Celebrity Ad Wocket Update: Katey Sagal and Ciaran Hinds Attached to His Upcoming Movie 3Researchers develop unique waste cleanup for rural areas 2
Other Contents