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Missense in Medical News

JCI table of contents: March 23, 2009

... 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

... 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. ...

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 ...
Missense in Biological News

Genetic mutation causes familial susceptibility for degenerative brain disease

... especially our unexpected finding that a missense mutation in part of the nuclear pore predisposes ... by ANE, it's very important to determine how missense mutations in RANBP2 predispose certain people to ... showing symptoms consistent with ANE. In a missense gene mutation, a single portion of the gene's DNA ...

Joining forces to improve lung cancer treatment

... 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 ...

Researchers discover gene for branchio-oculo-facial syndrome

... 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 ...

JCI table of contents: Aug. 16, 2007

... 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, ...

Novel EGFR ectodomain mutations in glioblastoma

... 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 ... mapped to the extracellular domain of the protein. These findings identify missense mutations in the extracellular domain of EGFR as a new way to ...

Gene malfunctions cause schizophrenia, depression symptoms in mice

... 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 ...
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 ... sickle-cell disease, and SOD1 mediated ALS . missense mutations . With a missense mutation , the new nucleotide alters the ...
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(Date:7/10/2014)... Emergency Medical Service (EMS) responders felt better prepared to ... tactical training according to a new study in the ... the first study to specifically examine the EMS provider ... a shooter has not yet been neutralized or working ... such as the Columbine High School shooting, the Virginia ...
(Date:7/10/2014)... beverages consumed, even for light-to-moderate drinkers, may improve ... heart disease, lower body mass index (BMI) and ... published in The BMJ and co-led ... University of Pennsylvania. The latest findings call into ... amounts of alcohol (0.6-0.8 fluid ounces/day) may have ...
(Date:7/10/2014)... The U.S. Department of Health and Human Services ... (UH) Case Medical Center Seidman Cancer Center totaling $4.7 ... improving care for patients with complex cancer. , ... unique model developed at UH to enhance care for ... demonstrated need for high health care utilization. ...
(Date:7/10/2014)... benefits of medical imaging far outweigh the risks when ... with The Right Radiation Dose. However, overuse and misuse ... is leading a collaborative effort to ensure a national ... in the Journal of Patient Safety , calls ... the Intersociety Accreditation Commission, and the Centers for Medicare ...
(Date:7/10/2014)... A research review identifying the clinical indicators most strongly ... the process of developing evidence-based guidelines for concussion diagnosis, ... by Neurosurgery , official journal of ... journal is published by Lippincott Williams & Wilkins ... . , Based on analysis of the best ...
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(Date:7/10/2014)... 10 July 2014 Amyloid diseases, such as ... spongiform encephalopathies, all share the common trait that ... plaques. Yet in vitro studies have found that ... themselves are very toxic. New evidence using two-dimensional ... structure during the amylin aggregation pathway that may ...
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(Date:7/10/2014)... natural-color satellite image was collected by the Moderate Resolution ... 10, 2014. Each hot spot, which appears as a ... on the MODIS instrument recognized temperatures higher than background. ... image, such hot spots are diagnostic for fire. ... little danger coming directly from the fires, although the ...
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