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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:8/20/2014)... Dennis Thompson HealthDay Reporter ... birth rates fell dramatically during the past two decades, plummeting ... government report shows. An estimated 4 million fewer births ... to researchers from the U.S. Centers for Disease Control and ... me from the report," said Bill Albert, chief program officer ...
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(Date:8/20/2014)... vaccines is now, Free content, The time to ... commentary being published early online today in ... Yale School of Public Health write that the relentless ... outbreak represent a public health crisis that shows no ... have been developed in the last decade, yet the ...
(Date:8/20/2014)... Barbara Bronson Gray HealthDay ... Although it,s extremely rare, colds, flu and other minor ... risk for stroke in children, a new study suggests. ... stroke in the United States, said Dr. Heather Fullerton, lead ... pediatrics at the University of California, San Francisco Benioff Children,s ...
(Date:8/20/2014)... Reinberg HealthDay Reporter WEDNESDAY, ... cancer cells grow may help doctors diagnose and treat the ... investigators have found that the deadliest skin cancers occur most ... a long history of sun exposure. These lesions also ... Rapid cell growth -- called "high mitotic rate" -- ...
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(Date:8/19/2014)... seas during warm phases and became extinct during cold ... a link between marine crocodilian diversity and the evolution ... 140 million years. , The research, led by ... and formerly from the University of Bristol, UK is ... crocodiles are ,cold-blooded, animals that mainly live in fresh ...
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