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Study shows how genetic mutations lead to kidney cysts in tuberous sclerosis complex

Study shows how genetic mutations lead to kidney cysts in tuberous sclerosis complex
Tuberous sclerosis complex (TSC) afflicts as many as two million people around the world, affecting multiple organs, including lungs, brain, skin, and kidneys. In about 80 percent of cases, it causes cysts and benign tumors to form in the kidney, eventually resulting in kidney failure.
It s known that the disease is triggered by genetic mutations, but how these mutations lead to the formation of kidney cysts has been poorly understood - until now.
Nephrologist Manoocher Soleimani, MD, a professor in The University of New Mexico Department of Internal Medicine, led a team that solved the puzzle and pointed the way toward potential treatments for this devastating condition. ....

Manoocher Soleimani , Emily Henderson , Department Of Internal Medicine , University Of New Mexico , University Of Tennessee , Albuquerque Veterans Affairs Medical Center , University Of Cincinnati , Proceedings Of The National Academy Sciences , Harvard University , Us Department Of Veterans Affairs , Va Medical Center , New Mexico Department , Internal Medicine , National Academy , Veterans Affairs , Kidney Failure , Tuberous Sclerosis , எமிலி ஹென்டர்சன் , துறை ஆஃப் உள் மருந்து , பல்கலைக்கழகம் ஆஃப் புதியது மெக்ஸிகோ , பல்கலைக்கழகம் ஆஃப் டென்னசி , அல்புகர்கி வீரர்கள் வாழ்க்கைத்தொழில்கள் மருத்துவ மையம் , பல்கலைக்கழகம் ஆஃப் ஸிந்ஸந்யாடீ , ஹார்வர்ட் பல்கலைக்கழகம் , எங்களுக்கு துறை ஆஃப் வீரர்கள் வாழ்க்கைத்தொழில்கள் , வா மருத்துவ மையம் ,

Spark Therapeutics launches gene therapy clinical trial for late-onset Pompe disease

Pompe disease is a hereditary genetic disorder caused by a deficiency of acid alpha-glucosidase leading to build-up of glycogen in the lyosomes, which then causes cell damage in various tissues, in particular the heart, the muscles, the liver and the nervous system. ....

United States , Emily Henderson , Spark Therapeutics , Clinical Trial , Gene Therapy , Pompe Disease , Genetic Disorder , Life Expectancy , Nervous System , ஒன்றுபட்டது மாநிலங்களில் , எமிலி ஹென்டர்சன் , தீப்பொறி சிகிச்சை , மருத்துவ சோதனை , கீந் சிகிச்சை , பொம்பே நோய் , ஜெநெடிக் கோளாறு , வாழ்க்கை எதிர்பார்ப்பு , பதட்டமாக அமைப்பு , சக்கர நாற்காலி ,

Gene mutations may explain the poorer outcomes in Hispanic and Latino children with leukemia

Gene mutations may explain the poorer outcomes in Hispanic and Latino children with leukemia
A combination of genetic mutations may explain the higher incidence of and poorer outcomes from pediatric leukemia in Hispanic and Latino children, according to Penn State College of Medicine researchers. They said a novel therapeutic drug combination – as well as testing for these mutations – may help address the disparity.
Hispanic and Latino children are between 1.2 and 1.75 times more likely to develop B-cell acute lymphoblastic leukemia (B-ALL), the most common childhood cancer, than non-Hispanic and Latino children. They also have a 40% higher death rate than their counterparts after correcting for socioeconomic factors. ....

Los Angeles , Sinisa Dovat , Kimberlyj Payne , Gordana Raca , Emily Henderson , Loma Linda University , Penn State Cancer Institute , Penn State College Of Medicine , Penn State College , Penn State Children , Hospital Los Angeles , Acute Lymphoblastic Leukemia , லாஸ் ஏஞ்சல்ஸ் , எமிலி ஹென்டர்சன் , லோமா லிண்டா பல்கலைக்கழகம் , பென் நிலை புற்றுநோய் நிறுவனம் , பென் நிலை கல்லூரி ஆஃப் மருந்து , பென் நிலை கல்லூரி , பென் நிலை குழந்தைகள் , மருத்துவமனை லாஸ் ஏஞ்சல்ஸ் ,

New COVID-19 variant identified in Brazilian Amazon spreads faster

New COVID-19 variant identified in Brazilian Amazon spreads faster
A new variant of the virus that causes COVID-19, identified in Brazil, is likely more transmissible than its parent strain because of mutations in the spike protein, according to researchers.
The P1 variant of the SARS-CoV-2 virus, found in the city of Manaus, has a number of mutations compared to the B.1.1.28 lineage, especially in the spike protein region, says Esther Sabino, one of the researchers involved in its genetic characterization.
This would lead to an increase in its transmissibility, although it is not known currently whether it would also lead to an increased risk of severe infections, researchers say. ....

Rio De Janeiro , Estado Do Rio , United Kingdom , Minas Gerais , Rio Grande Do Sul , South Africa , Renato Aguiar , Fernando Spilki , Esther Sabino , Emily Henderson , University Of Minas Gerais , United Kingdom Centre For Arbovirus Discovery , Feevale University , Doctors Without Borders , Brazil United Kingdom Centre , Arbovirus Discovery , Rio Grande , Corona Omics Network , Federal University , Sars Cov 2 , Spike Protein , ரியோ டி ஜானிரோ , எஸ்டாடோ செய் ரியோ , ஒன்றுபட்டது கிஂக்டம் , மினாஸ் கெரைச் , ரியோ கிராண்டே செய் சூழ் ,

Scientists study how different genes dance to the circadian rhythm

Scientists study how different genes dance to the circadian rhythm
In 2017, the Nobel Prize in Physiology or Medicine went to three scientists who uncovered the molecular mechanisms that control the circadian rhythm, otherwise known as the wake-sleep cycle. To carry out their work, the scientists used the common fruit fly
Drosophila melanogaster, making this the sixth Nobel to be awarded to research involving it.
Fruitful fruit flies
Life scientists have been using
Drosophila for over a century now. First proposed by entomologist Charles W. Woodworth as a model organism, its use in research was pioneered by geneticist Thomas H. Morgan who ran his famous Fly Room at Columbia University in the early 1900 s. ....

Bart Deplancke , Maria Litovchenko , Charlesw Woodworth , Emily Henderson , Thomash Morgan , School Of Life Sciences , Drosophila Genetic Reference Panel , Fly Room At Columbia University , Nobel Prize , Fly Room , Columbia University , Life Sciences , Circadian Rhythm , Gene Expression , எமிலி ஹென்டர்சன் , தோமாஷ் மோர்கன் , பள்ளி ஆஃப் வாழ்க்கை அறிவியல் , ஈ அறை இல் கொலம்பியா பல்கலைக்கழகம் , நோபல் ப்ரைஸ் , ஈ அறை , கொலம்பியா பல்கலைக்கழகம் , வாழ்க்கை அறிவியல் , சர்க்காடியன் தாளம் , கீந் வெளிப்பாடு ,