Navigation Links
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 ...
Other Contents
(Date:8/1/2015)... ... August 01, 2015 , ... “ reTXT ” was ... the latest and coolest applications on the market for iOS, Android, and Windows. Joe ... with viewers allows users to clarify, edit and delete any message including ones already ...
(Date:7/31/2015)... ... August 01, 2015 , ... The Honor Society of Nursing, ... on the Future of Nursing (GAPFON) 20-21 July 2015 in San Juan, Puerto Rico. ... this meeting. , Dr. Silvia Cassiani, Advisor, Nursing and Allied Health Personnel Development, Unit ...
(Date:7/31/2015)... ... 31, 2015 , ... Last week, the Mesothelioma Applied Research ... be accessed by visiting http://www.curemeso.org/store . , “Our new store features a ... whenever a product is purchased, the Meso Foundation receives a $5.00 donation,” said ...
(Date:7/31/2015)... Rolling Meadows, IL (PRWEB) , ... July 31, ... ... great ways to communicate. Rally Insurance Group, Inc. has re-branded their social media ... provides a personal way for consumers to communicate, find information, share insights ...
(Date:7/31/2015)... ... ... According to an article published July 2 on Healio, a ... consensus on the steps that need to be taken to successfully complete several plastic ... on a series of steps that each surgeon must complete for each procedure. Southern ...
Breaking Medicine News(10 mins):Health News:Correct Auto-Correct and Clarify the Unclear with reTXT Messaging App 2Health News:Key Latin American Nurse Leaders Identify Regional Issues During Global Advisory Panel on the Future of Nursing Meeting 2Health News:Key Latin American Nurse Leaders Identify Regional Issues During Global Advisory Panel on the Future of Nursing Meeting 3Health News:Key Latin American Nurse Leaders Identify Regional Issues During Global Advisory Panel on the Future of Nursing Meeting 4Health News:Mesothelioma Organization Launches New Store 2Health News:Mesothelioma Organization Launches New Store 3Health News:Rally Insurance Group, Inc. Connects to Customers Through Re-branded Social Media Profiles 2Health News:Article on Plastic Surgery Consensus Highlights the Duties of Veteran Plastic Surgeons, says Beverly Hills Physicians 2Health News:Article on Plastic Surgery Consensus Highlights the Duties of Veteran Plastic Surgeons, says Beverly Hills Physicians 3
(Date:7/27/2015)... 27, 2015  Synaptics Inc. (NASDAQ: SYNA ... today announced that Huawei has selected the Synaptics ... its stylish smartwatch. Huawei chose the state-of-the-art ClearPad ... power and highly responsive human interface qualities such ... also required a classic round watch face and ...
(Date:7/23/2015)... Mass., July 23, 2015 Aware, Inc. (NASDAQ: ... today reported financial results for its second quarter ended June ... of 2015 was $4.5 million, a decrease of 33% compared ... income in the second quarter of 2015 was $0.3 million, ... or $0.04 per diluted share, in the same period a ...
(Date:7/21/2015)... , July 21, 2015 Today, ZTE announced ... received as well as expected revenues in 2015 that relate to ... communicated revenue guidance of approximately 2,200 MSEK for 2015. ... a leading smartphone manufacturer in China and ... 02 5 for Axon , ...
Breaking Biology News(10 mins):Synaptics Touchscreen Solution Powers New Huawei Watch 2Synaptics Touchscreen Solution Powers New Huawei Watch 3Aware, Inc. Reports Second Quarter 2015 Financial Results 2Aware, Inc. Reports Second Quarter 2015 Financial Results 3Aware, Inc. Reports Second Quarter 2015 Financial Results 4Aware, Inc. Reports Second Quarter 2015 Financial Results 5Aware, Inc. Reports Second Quarter 2015 Financial Results 6FPC's Touch Fingerprint Sensor FPC1025 in ZTE's Smartphone Axon 2
Other TagsOther Tags