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Your search keyword '"Gene mutation -- Research -- Health aspects"' showing total 43 results
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43 results on '"Gene mutation -- Research -- Health aspects"'

1. Reports Outline Mycobacterium tuberculosis Findings from Fudan University (Identification of Drug Resistance-related Virulence Gene Mutations In 667 Clinical Mycobacterium Tuberculosis Isolates)

Subjects
Fudan University, Drug therapy, Research, Health aspects, Virulence (Microbiology) -- Health aspects -- Research, Microbial drug resistance -- Drug therapy -- Research, Gene mutation -- Research -- Health aspects, Tuberculosis -- Drug therapy -- Research, Gene mutations -- Research -- Health aspects, Drug resistance in microorganisms -- Drug therapy -- Research
Abstract

2024 NOV 26 (NewsRx) -- By a News Reporter-Staff News Editor at TB & Outbreaks Week -- Investigators discuss new findings in Gram-Positive Bacteria - Mycobacterium tuberculosis. According to news [...]

Published
2024

2. Research Conducted at University Hospitals Cleveland Medical Center Has Updated Our Knowledge about Melanoma (Therapeutic Implications of the Metabolic Changes Associated With Braf Inhibition In Melanoma)

Subjects
Research, Health aspects, Cancer prevention -- Research -- Health aspects, Gene mutation -- Research -- Health aspects, Melanoma -- Research, Gene mutations -- Research -- Health aspects, Cancer -- Prevention
Abstract

2024 SEP 6 (NewsRx) -- By a News Reporter-Staff News Editor at Health & Medicine Week -- Investigators discuss new findings in Oncology - Melanoma. According to news reporting originating [...]

Published
2024

3. The mutational landscape of human somatic and germline cells

Author

Moore, Luiza, Cagan, Alex, Coorens, Tim H. H., Neville, Matthew D. C., Sanghvi, Rashesh, Sanders, Mathijs A., and Oliver, Thomas R. W.

Subjects
Research, Genetic aspects, Health aspects, Germ cells -- Genetic aspects, Gene mutation -- Research -- Health aspects, Medical research, Somatic cells -- Genetic aspects, Gene mutations -- Research -- Health aspects, Medicine, Experimental
Abstract

Author(s): Luiza Moore [sup.1] [sup.2] , Alex Cagan [sup.1] , Tim H. H. Coorens [sup.1] , Matthew D. C. Neville [sup.1] , Rashesh Sanghvi [sup.1] , Mathijs A. Sanders [sup.1] [...], Over the course of an individual's lifetime, normal human cells accumulate mutations.sup.1. Here we compare the mutational landscape in 29 cell types from the soma and germline using multiple samples from the same individuals. Two ubiquitous mutational signatures, SBS1 and SBS5/40, accounted for the majority of acquired mutations in most cell types, but their absolute and relative contributions varied substantially. SBS18, which potentially reflects oxidative damage.sup.2, and several additional signatures attributed to exogenous and endogenous exposures contributed mutations to subsets of cell types. The rate of mutation was lowest in spermatogonia, the stem cells from which sperm are generated and from which most genetic variation in the human population is thought to originate. This was due to low rates of ubiquitous mutational processes and may be partially attributable to a low rate of cell division in basal spermatogonia. These results highlight similarities and differences in the maintenance of the germline and soma. The authors report the mutational landscape of 29 cell types from microdissected biopsies from 19 organs and explore the mechanisms underlying mutation rates in normal tissues.

Published
2021
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4. Investigators at Mayo Clinic Discuss Findings in Cancer (Germline Abnormalities In Dna Methylation and Histone Modification and Associated Cancer Risk)

Subjects
Research, Risk factors, Health aspects, Physical fitness -- Research -- Health aspects, Cancer genetics -- Research -- Risk factors, Genetic research -- Health aspects, Cancer -- Risk factors, Cancer research -- Health aspects, Methylation -- Health aspects -- Research, Methyltransferases -- Research -- Health aspects, Gene mutation -- Research -- Health aspects, DNA -- Research -- Health aspects, Oncology, Experimental -- Health aspects, Gene mutations -- Research -- Health aspects, Cancer -- Genetic aspects -- Risk factors -- Research
Abstract

2022 JUL 9 (NewsRx) -- By a News Reporter-Staff News Editor at Obesity, Fitness & Wellness Week -- Current study results on Cancer have been published. According to news reporting [...]

Published
2022

5. Study Results from Savitribai Phule Pune University in the Area of Papillomavirus Infections Reported (Genetic Variations In the Long Control Region of Human Papillomavirus Type 16 Isolates From India: Implications for Cervical Carcinogenesis)

Subjects
Complications and side effects, Development and progression, Research, Genetic aspects, Risk factors, Health aspects, Genetic research, Cervical cancer -- Risk factors -- Genetic aspects -- Development and progression, Papillomavirus infections -- Complications and side effects -- Research, Gene mutation -- Research -- Health aspects, Cervix dysplasia -- Risk factors -- Genetic aspects, Gene mutations -- Research -- Health aspects
Abstract

2022 MAR 19 (NewsRx) -- By a News Reporter-Staff News Editor at Obesity, Fitness & Wellness Week -- Fresh data on Tumor Virus Infections - Papillomavirus Infections are presented in [...]

Published
2022

6. Findings from Pusan National University Update Knowledge of Bacterial Infections and Mycoses (The Effect of Oral Bacterial Infection On Dna Damage Response In Host Cells)

Subjects
Research, Health aspects, Bacterial infections -- Research, DNA damage -- Research -- Health aspects, Bacterial genetics -- Health aspects -- Research, Gene mutation -- Research -- Health aspects, DNA -- Research -- Health aspects, Infection -- Research, DNA repair -- Health aspects -- Research, Gene mutations -- Research -- Health aspects
Abstract

2023 SEP 22 (NewsRx) -- By a News Reporter-Staff News Editor at Health & Medicine Week -- Fresh data on Bacterial Infections and Mycoses are presented in a new report. [...]

Published
2023

7. Study on rare antibodies hints at strategy tweaks that may future-proof COVID-19 vaccines

Subjects
Hiroshima University, Research, Health aspects, Vaccines -- Research, Gene mutation -- Research -- Health aspects, Medical research -- Health aspects, COVID-19 -- Research, Gene mutations -- Research -- Health aspects, Medicine, Experimental -- Health aspects
Abstract

2023 JUL 12 (NewsRx) -- By a News Reporter-Staff News Editor at Vaccine Weekly -- New research examining how frequently our bodies produce broadly neutralizing antibodies (bnAbs) capable of thwarting [...]

Published
2023

8. Prophylactic treatment with sialic acid metabolites precludes the development of the myopathic phenotype in the DMRV-hIBM mouse model

Author

Malicdan, May Christine V., Noguchi, Satoru, Hayashi, Yukiko K., Nonaka, Ikuya, and Nishino, Ichizo

Subjects
Research, Health aspects, Metabolites -- Health aspects -- Research, Gene mutation -- Research -- Health aspects, Sialic acids -- Research -- Health aspects, Gene mutations -- Research -- Health aspects
Abstract

Sialic acids are the most abundant terminal monosaccharides on glycoconjugates of eukaryotic cell surfaces and are involved in a variety of cellular functions (9). As GNE enzymatic activity measured in [...], Distal myopathy with rimmed vacuoles (DMRV)-hereditary inclusion body myopathy (hIBM) is an adult-onset, moderately progressive autosomal recessive myopathy; eventually, affected individuals become wheelchair bound (l). It is characterized clinically by skeletal muscle atrophy and weakness, and pathologically by rimmed vacuoles, which are actually accumulations of autophagic vacuoles (2-4), scattered angular fibers and intracellular accumulation of amyloid and other proteins (5). To date, no therapy is available for this debilitating myopathy, primarily because the disease pathomechanism has been enigmatic. It is known that the disease gene underlying DMRV-hIBM is GNE, encoding glucosamine (UDP-N-acetyl)-2-epimerase and N-acetylmannosamine kinase (6-8)-two essential enzymes in sialic acid biosynthesis (9). It is still unclear, however, whether decreased sialic acid production causes muscle degeneration, as GNE has been proposed to have roles other than for sialic acid biosynthesis (10-12). By showing that muscle atrophy and weakness are completely prevented in a mouse model of DMRV-hIBM after treatment with sialic acid metabolites orally, we provide evidence that hyposialylation is indeed one of the key factors in the pathomechanism of DMRV-hIBM. These results support the notion that DMRV-hIBM can potentially be treated simply by giving sialic acids, a strategy that could be applied in clinical trials in the near future.

Published
2009

9. Reports Outline Clinical Trials and Studies Study Results from National Cancer Center (Safety, tolerability, and pharmacokinetic profile of dabrafenib in Japanese patients with BRAF V600 mutation-positive solid tumors: a phase 1 study)

Subjects
Genetic aspects, Research, Health aspects, Product development, Clinical trials -- Research -- Health aspects, Physical fitness -- Research -- Health aspects, Cancer -- Genetic aspects -- Health aspects, Cancer research -- Health aspects, Gene mutation -- Research -- Health aspects
Abstract

2018 APR 28 (NewsRx) -- By a News Reporter-Staff News Editor at Obesity, Fitness & Wellness Week -- A new study on Clinical Research - Clinical Trials and Studies is [...]

Published
2018

10. GATA believe it: new essential regulators of pancreas development

Author

Rodriguez-Segui, Santiago, Akerman, Ildem, and Ferrer, Jorge

Subjects
Physiological aspects, Research, Genetic aspects, Pancreas -- Physiological aspects -- Genetic aspects -- Research, Gene mutation -- Research -- Health aspects, Transcription factors -- Research -- Genetic aspects -- Physiological aspects, Gene mutations -- Research -- Health aspects
Abstract

Type 1 diabetes results from autoimmune destruction of insulin-producing β cells. The major goal of current research efforts to reverse this disease is focused on learning how to generate new [...], Understanding the transcriptional mechanisms that underlie pancreas formation is central to the efforts to develop novel regenerative therapies for type 1 diabetes. Recently, mutations in the transcription factor GATA6 were unexpectedly shown to be the most common cause of human pancreas agenesis. In this issue of the fa, Carrasco et al. and Xuan et al. investigate the role of Gata6 and its paralogue Gata4 in mouse embryonic pancreas and show that GATA factors are essential regulators of the proliferation, morphogenesis, and differentiation of multipotent pancreatic progenitors.

Published
2012
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11. Respiratory chain complex V deficiency due to a mutation in the assembly gene ATP12

Author

De Meirleir, L., Seneca, S., Lissens, W., De Clercq, I., Eyskens, F., Gerlo, E., Smet, J., and Van Coster, R.

Subjects
Research, Health aspects, Phosphorylation -- Research -- Health aspects, Gene mutation -- Research -- Health aspects, ATP genes -- Research -- Health aspects, Mitochondrial DNA -- Health aspects -- Research, Gene mutations -- Research -- Health aspects, Adenosine triphosphatase genes -- Research -- Health aspects
Abstract

J Med Genet 2004;41:120-124. doi: 10.1136/jmg.2003.012047 In patients with mitochondrial encephalomyopathies an increasing number of causative gene defects have been detected. The number of identified pathogenic mitochondrial DNA mutations has [...]

Published
2004

12. Poster presentations: Molecular Genetics

Subjects
Research, Health aspects, Genetics -- Health aspects -- Research, Gene mutation -- Research -- Health aspects, Familial diseases -- Research, Molecular genetics -- Research -- Health aspects, Gene mutations -- Research -- Health aspects
Abstract

3.01 Localisation and fine mapping of a recombination hotspot on chromosome 19 Joanne Jones (1), A Cox (2), AG Wilson (1) (1) Division of Genomic Medicine, University of Sheffield, Sheffield, [...]

Published
2002

13. Clues on 5 Deadly Diseases Are Hidden at 6.6 Million Spots in Your DNA

Author

Kolata, Gina

Subjects
Genetic aspects, Research, Risk factors, Health aspects, Genetic research, Risk factors (Health) -- Genetic aspects -- Research, Heart diseases -- Genetic aspects -- Risk factors, Gene mutation -- Research -- Health aspects, Medical research
Abstract

Scientists have created a powerful new tool to calculate a person's inherited risks for heart disease, breast cancer and three other serious conditions. By surveying changes in DNA at 6.6 [...]

Published
2018

14. HOW TO FIGHT CANCER CELLS BY MAKING USE OF MUTATION IN DNA

Subjects
Research, Health aspects, Cancer cells -- Research, Gene mutation -- Research -- Health aspects, Gene mutations -- Research -- Health aspects
Abstract

Dear Editor Human bodies are made up of trillions of cells and each cell contains about 3 billion bits or gene sequences specifying the quality and type of those cells; [...]

Published
2010

15. NEW APPROACH TO UNDERSTANDING CANCERS WILL SPEED TREATMENTS

Subjects
Cancer treatment -- Research -- Health aspects, Cancer -- Genetic aspects -- Drug therapy -- Health aspects, Gene mutation -- Research -- Health aspects, News, opinion and commentary
Abstract

Charlottesville, VA -- The following information was released by the University of Virginia: A new innovation in cancer research will enable scientists to understand the complex causes of the disease [...]

Published
2018

16. Genetically predisposed, life style and occurrence of metastatic cancer

Author

Chakraborty, Nitya

Subjects
Research, Health aspects, Cancer genetics -- Research, Gene mutation -- Research -- Health aspects, Cancer metastasis -- Health aspects -- Research, Gene mutations -- Research -- Health aspects, Metastasis -- Health aspects -- Research, Cancer -- Genetic aspects
Published
2007

17. 'Bad luck' mutations boost cancer risk more than one's behavior: research

Subjects
Genetic research -- Health aspects, Cancer -- Genetic aspects -- Risk factors -- Health aspects, Cancer research -- Health aspects, Gene mutation -- Research -- Health aspects, Business, international
Abstract

Byline: John Binz A new research has suggested that genetic mutations that develop into cancer are caused by simple random errors occurring during replacement of cells, indicating that 'bad luck' [...]

Published
2017

18. Molecular Diagnostics

Subjects
University of Virginia. School of Medicine -- Officials and employees, Technology application, Evaluation, Usage, Research, Officials and employees, Health aspects, Molecular diagnostic techniques -- Usage -- Evaluation, Gene mutation -- Research -- Health aspects, Medical research -- Technology application
Abstract

Doctors can now predict the severity of disease by measuring molecules. An international team of researchers has found a way to diagnose disease and predict patient outcomes simply by measuring [...]

Published
2017

19. Encourage the innovators: rather than emphasize risks that are not entirely new, talks about germline editing should focus more on the benefits

Author

Church, George

Subjects
Research, Health aspects, Gene therapy -- Research -- Health aspects, Gene mutation -- Research -- Health aspects, Gene mutations -- Research -- Health aspects
Abstract

International scientific academies will be discussing the issue of human-germline editing in Washington DC on 1-3 December. Now is, therefore, a good time to encourage the general public to become [...]

Published
2015

20. Rare Mutation Ignites Race for Cholesterol Drug

Author

Kolata, Gina

Subjects
Prevention, Research, Health aspects, Product development, Low density lipoproteins -- Research -- Health aspects, Heart attack -- Prevention -- Research, Anticholesteremic agents -- Product development -- Health aspects -- Research, Gene mutation -- Research -- Health aspects, Gene mutations -- Research -- Health aspects
Abstract

She was a 32-year-old aerobics instructor from a Dallas suburb -- healthy, college educated, with two young children. Nothing out of the ordinary, except one thing. Her cholesterol was astoundingly [...]

Published
2013

21. Unstuck by design

Subjects
Research, Health aspects, Drugs -- Health aspects -- Research, Gene mutation -- Research -- Health aspects, Immune response -- Research -- Health aspects, Gene mutations -- Research -- Health aspects
Abstract

Computational predictions could make it easier to design biopharmaceuticals that don't stick together. Aggregation can destroy the effectiveness of antibody-based drugs or, worse, spur an unwanted immune response. But current [...]

Published
2009

22. In the head

Author

Chung, Alicia Smith

Subjects
Research, Health aspects, Cancer genetics -- Research, Cell culture -- Research -- Health aspects, Isocitrate dehydrogenase -- Health aspects -- Research, Cytological research -- Health aspects, Gene mutation -- Research -- Health aspects, Gene mutations -- Research -- Health aspects, Cell research -- Health aspects, Cancer -- Genetic aspects
Abstract

A mutation in a curious gene, encoding isocitrate dehydrogenase (IDH1), is often associated with glioblastoma multiforme, the most common and deadly type of brain cancer. Shimin Zhao et al. now [...]

Published
2009

23. Reports Outline Cancer Risk Study Results from University of Toronto (The effect of oral 3,3'-diindolylmethane supplementation on the 2:16 alpha-OHE ratio in BRCA1 mutation carriers)

Subjects
University of Toronto, Genetic aspects, Research, Risk factors, Health aspects, Cancer -- Genetic aspects -- Risk factors -- Health aspects, Cancer research -- Health aspects, Gene mutation -- Research -- Health aspects
Abstract

By a News Reporter-Staff News Editor at Clinical Trials Week -- New research on Oncology is the subject of a report. According to news originating from Toronto, Canada, by NewsRx [...]

Published
2015

24. Preventive surgeries may be lifesaver for women at high cancer risk; study finds removing breast, ovaries greatly lower the odds, but decision can be a difficult one

Author

Behen, Madonna

Subjects
Prevention, Research, Genetic aspects, Risk factors, Health aspects, Cancer prevention -- Reports -- Health aspects -- Research, Gene mutation -- Research -- Health aspects, Breast cancer -- Research -- Genetic aspects -- Reports -- Health aspects -- Prevention -- Risk factors, Ovarian cancer -- Research -- Genetic aspects -- Reports -- Health aspects -- Prevention -- Risk factors, Gene mutations -- Research -- Health aspects, Cancer -- Prevention
Published
2010

25. Smoking may boost risk of certain colon cancers; lighting up seems to cause gene mutations in older women that lead to disease, study finds

Subjects
Genetic aspects, Research, Risk factors, Demographic aspects, Health aspects, Colon cancer -- Genetic aspects -- Risk factors -- Research -- Demographic aspects, Smoking -- Health aspects -- Research, Gene mutation -- Research -- Health aspects, Gene mutations -- Research -- Health aspects
Abstract

TUESDAY, June 29 (HealthDay News) -- Scientists report that smoking may boost the risk of colon cancer in older women by causing certain genetic mutations. The study appears online June [...]

Published
2010

26. Virus plus gene mutation spurs crohn's disease in mice; the finding gives another clue to the gut disorder's origins

Subjects
Genetic aspects, Research, Health aspects, Crohn's disease -- Genetic aspects -- Research, Gene mutation -- Research -- Health aspects, Gene mutations -- Research -- Health aspects
Abstract

THURSDAY, June 24 (HealthDay News) -- Mice with a gene variant linked to Crohn's disease only develop the inflammatory bowel disorder if they are infected by a common norovirus called [...]

Published
2010

27. Gene mutations linked to rare, inherited bone disorder; finding may help determine the genetic basis of other diseases, researchers say

Subjects
Research, Genetic aspects, Health aspects, Gene mutation -- Research -- Health aspects, Bone diseases -- Genetic aspects -- Research, Gene mutations -- Research -- Health aspects
Abstract

THURSDAY, June 17 (HealthDay News) -- Two gene mutations linked to a rare, inherited bone disorder called metachondromatosis have been identified by U.S. scientists. The researchers used new, whole-genome sequencing [...]

Published
2010

28. Gene mutation offers clues to tamoxifen-blood clot link; Women who developed embolism during cancer treatment more likely to have variant, study shows

Subjects
Drug therapy, Complications and side effects, Research, Genetic aspects, Risk factors, Health aspects, Cancer treatment -- Genetic aspects -- Research, Thrombosis -- Risk factors -- Research -- Genetic aspects, Gene mutation -- Research -- Health aspects, Tamoxifen -- Research -- Complications and side effects, Breast cancer -- Drug therapy -- Research, Gene mutations -- Research -- Health aspects, Blood clot -- Risk factors -- Research -- Genetic aspects, Cancer -- Care and treatment
Abstract

THURSDAY, June 17 (HealthDay News) -- Researchers have identified a gene mutation that increases the risk of blood clots in women taking the anti-cancer drug tamoxifen after surgery for early-stage [...]

Published
2010

29. Gene mutation ups risk of sudden death in people with Epilepsy; Patients who have gene variant are 10 times more likely to die without warning, study finds

Subjects
Genetic aspects, Research, Risk factors, Health aspects, Sudden death -- Risk factors -- Genetic aspects -- Research, Epilepsy -- Genetic aspects -- Reports -- Research, Gene mutation -- Research -- Health aspects, Gene mutations -- Research -- Health aspects
Abstract

WEDNESDAY, April 14 (HealthDay News) -- A mutation in a gene called Kv1.1 appears to be associated with irregular heart beat and sudden death in people with epilepsy, a new [...]

Published
2010

30. Body's response to foods' smell, taste could be diabetes risk factor; A gene mutation could trigger key insulin reaction in some, researchers say

Subjects
Development and progression, Research, Genetic aspects, Risk factors, Health aspects, Type 2 diabetes -- Research -- Risk factors -- Genetic aspects -- Development and progression, Gene mutation -- Research -- Health aspects, Gene mutations -- Research -- Health aspects
Abstract

THURSDAY, March 11 (HealthDay News) -- A mutation that affects how the body responds when a person smells or tastes food may play a role in the development of type [...]

Published
2010

31. Detecting colorectal Ca mutations

Author

Evans, Jeff

Subjects
Diagnosis, Care and treatment, Research, Health aspects, Gene mutation -- Research -- Health aspects, Colorectal cancer -- Diagnosis -- Care and treatment -- Research, Cancer patients -- Health aspects -- Care and treatment, Gene mutations -- Research -- Health aspects
Abstract

Conversion analysis detects many of the mismatch repair mutations and clinically important information that genomic DNA sequencing misses in colorectal cancer patients, reported Graham Casey, Ph.D., of the Cleveland Clinic [...]

Published
2005

32. New options make family history for breast, ovarian cancer critical: red flags to look for

Author

Johnson, Kate

Subjects
Care and treatment, Research, Health aspects, Gene mutation -- Research -- Health aspects, Women -- Health aspects -- Research, Breast cancer -- Care and treatment -- Research, Ovarian cancer -- Care and treatment -- Research, Gene mutations -- Research -- Health aspects
Abstract

With the availability of testing for the BRCA1 and BRCA2 gene mutations and prophylactic options for those who test positive, primary care physicians now have important reasons for taking thorough [...]

Published
2004

33. Research Results from Radboud University Nijmegen Medical Center Update Knowledge of Cancer Therapy

Subjects
Care and treatment, Research, Health aspects, Health care industry, Hospitals -- Research -- Health aspects, Universities and colleges -- Research -- Health aspects, Medical centers -- Research -- Health aspects, Cancer -- Care and treatment -- Health aspects, Health care industry -- Research -- Health aspects, Cancer research -- Health aspects, Gene mutation -- Research -- Health aspects, Oncology, Experimental -- Health aspects, Gene mutations -- Research -- Health aspects, Cancer -- Care and treatment -- Health aspects -- Research
Abstract

By a News Reporter-Staff News Editor at Genomics & Genetics Weekly -- Current study results on Cancer Therapy have been published. According to news reporting from Nijmegen, Netherlands, by NewsRx [...]

Published
2012

34. Researchers from University of Toronto Report on Findings in Tuberculosis

Subjects
Physiological aspects, Genetic aspects, Research, Health aspects, Active sites (Biochemistry) -- Physiological aspects -- Genetic aspects -- Research, Gene mutation -- Research -- Health aspects, Drug resistance -- Physiological aspects -- Genetic aspects -- Research, Binding sites (Biochemistry) -- Physiological aspects -- Genetic aspects -- Research, Gene mutations -- Research -- Health aspects
Abstract

By a News Reporter-Staff News Editor at AIDS Weekly -- A new study on Mycobacterium Infections is now available. According to news reporting out of Toronto, Canada, by NewsRx editors, [...]

Published
2012

35. Reports from University of Massachusetts School of Medicine Describe Recent Advances in Life Science

Subjects
Physiological aspects, Research, Health aspects, Toll-like receptors -- Physiological aspects -- Research, Gene mutation -- Research -- Health aspects, Cellular signal transduction -- Research, Gene mutations -- Research -- Health aspects
Abstract

A report, 'Natural loss-of-function mutation of myeloid differentiation protein 88 disrupts its ability to form Myddosomes,' is newly published data in Journal of Biological Chemistry. 'Myeloid differentiation protein 88 (MyD88) [...]

Published
2012

36. Recent Findings from Institute of Molecular Biology Highlight Research in Subcellular Fractions

Subjects
Physiological aspects, Research, Genetic aspects, Risk factors, Health aspects, Gene mutation -- Research -- Health aspects, Hypertrophic cardiomyopathy -- Risk factors -- Genetic aspects -- Research, Mitochondrial DNA -- Physiological aspects -- Research, Gene mutations -- Research -- Health aspects, Cardiomyopathy, Hypertrophic -- Risk factors -- Genetic aspects -- Research
Abstract

According to the authors of a study from Rome, Italy, 'The genetic and epigenetic factors underlying the variable penetrance of homoplasmic mitochondrial DNA mutations are poorly understood. We investigated a [...]

Published
2012

37. Studies from Charite University Hospital & School of Medicine Reveal New Findings on Cell Motility

Subjects
Physiological aspects, Research, Genetic aspects, Risk factors, Health aspects, Cell membranes -- Physiological aspects -- Research, Sarcolemma -- Risk factors -- Genetic aspects -- Research, Gene mutation -- Research -- Health aspects, Gene mutations -- Research -- Health aspects
Abstract

'Ahnak1 is a giant, ubiquitously expressed, plasma membrane support protein whose function in skeletal muscle is largely unknown. Therefore, we investigated whether ahnak would be influenced by alterations of the [...]

Published
2012

38. Studies from Radboud University Provide New Data on Science

Subjects
Genetic aspects, Research, Risk factors, Health aspects, Cognitive disorders -- Risk factors -- Genetic aspects -- Research, Intelligence (Psychology) -- Research -- Health aspects, Gene mutation -- Research -- Health aspects, Gene mutations -- Research -- Health aspects, Intellect -- Research -- Health aspects, Intelligence levels -- Research -- Health aspects, Cognition disorders -- Risk factors -- Genetic aspects -- Research
Abstract

Investigators discuss in 'Genetic and epigenetic networks in intellectual disabilities' new findings in Science. According to the authors of a study from Nijmegen, Netherlands, 'Mutations in more than 450 different [...]

Published
2012

39. Data on Mutagenesis Reported by A. Sakai and Co-Researchers

Subjects
Research, Health aspects, Genetic transformation -- Research, Gene mutation -- Research -- Health aspects, Carcinogenesis -- Research, Gene mutations -- Research -- Health aspects
Abstract

According to the authors of recent research published in the journal Mutation Research-Genetic Toxicology and Environmental Mutagenesis, 'The Bhas 42 cell transformation assay is a sensitive short-term system for predicting [...]

Published
2011

40. Researchers from National Institutes of Health Report Details of New Studies and Findings in the Area of Life Science

Subjects
Physiological aspects, Research, Genetic aspects, Risk factors, Health aspects, Magnesium (Nutrient) -- Physiological aspects -- Research, Lymphocytopenia -- Risk factors -- Genetic aspects -- Research, Gene mutation -- Research -- Health aspects, Gene mutations -- Research -- Health aspects, Magnesium in the body -- Physiological aspects -- Research
Abstract

According to the authors of recent research from Bethesda, Maryland, 'The magnesium ion, Mg2+, is essential for all life as a cofactor for ATP, polyphosphates such as DNA and RNA, [...]

Published
2011

41. New Findings from L. Leisle and Co-Authors in the Area of Life Science Research Published

Subjects
Physiological aspects, Research, Genetic aspects, Risk factors, Health aspects, Transport proteins -- Physiological aspects -- Research, Osteopetrosis -- Risk factors -- Genetic aspects -- Research, Biological transport -- Research, Gene mutation -- Research -- Health aspects, Gene mutations -- Research -- Health aspects, Carrier proteins -- Physiological aspects -- Research
Abstract

New research, 'ClC-7 is a slowly voltage-gated 2Cl(-)/1H(+)-exchanger and requires Ostm1 for transport activity,' is the subject of a report. According to the authors of recent research from Berlin, Germany, [...]

Published
2011

42. Novel mutation site may affect hemostasis

Author

Clark, Cathy

Subjects
Hong Kong -- Health aspects, Research, Health aspects, Blood coagulation factors -- Research -- Health aspects, Hemostasis -- Research -- Health aspects, Gene mutation -- Research -- Health aspects, Gene mutations -- Research -- Health aspects
Abstract

A mutation of the factor V gene among the Hong Kong Chinese population may be of clinical importance. W.B. Chan and colleagues, University of Hong Kong, Queen Mary Hospital, analyzed [...]

Published
1998

43. Deranged calcium signaling in SCA3 neurons

Author

Bezprozvanny, Ilya

Subjects
National Ataxia Foundation -- Research, Research, Health aspects, Calcium channels -- Research -- Health aspects, Ataxia -- Research, Gene mutation -- Research -- Health aspects, Neurons -- Research -- Health aspects, Gene mutations -- Research -- Health aspects
Abstract

The following is a research summary of a grant funded by NAF for fiscal year 2007. During the last three years, with support from the National Ataxia Foundation, we focused [...]

Published
2008

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