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SMIM1: Vel-Negative Blood Problem Explained

SMIM1: Vel-Negative Blood Problem Explained | My science | Scoop.it

In the early 1950's, a 66-year-old woman with colon cancer received a blood transfusion - but she suffered a severe rejection of the transfused blood. When writing the case study, the medical journal Revue D'Hématologie identified her only as "Patient Vel."

 

It was determined that Mrs. Vel had developed a potent antibody against some unknown molecule found on the red blood cells of most people in the world—but not found on her own red blood cells. But the molecule was unknown, nobody could find it. A blood mystery began, and, from her case, a new blood type, "Vel-negative," was described in 1952.

 

Soon it was discovered that Mrs. Vel was not alone. It is estimated that over 200,000 people in Europe and a similar number in North America are Vel-negative, about 1 in 2,500. For these people, successive blood transfusions could easily turn to kidney failure and death. So, for sixty years, doctors and researchers have hunted for the underlying cause of this blood type.

 

Now a team of scientists from the University of Vermont and France has found the missing molecule—a tiny protein called SMIM1—and the mystery is solved. "Our findings promise to provide immediate assistance to health-care professionals should they encounter this rare but vexing blood type," says University of Vermont's Bryan Ballif. Last year, Ballif and Arnaud identified the proteins responsible for two other rare blood types, Junior and Langeris, moving the global count of understood blood types or systems from 30 to 32. Now, with Vel, the number rises to 33. The little protein didn't reveal its identity easily. "I had to fish through thousands of proteins," Ballif says. And several experiments failed to find the culprit because of its unusual biochemistry—and pipsqueak size. But he eventually nabbed it using a high-resolution mass spectrometer funded by the Vermont Genetics Network. And what he found was new to science. "It was only a predicted protein based on the human genome," says Ballif, but hadn't yet been observed. It has since been named: Small Integral Membrane Protein 1, or SMIM1.

 

Next, Lionel Arnaud of the French National Institute of Blood Transfusion
and the team in France tested seventy people known to be Vel-negative. In every case, they found a deletion—a tiny missing chunk of DNA—in the gene that instructs cells on how to manufacture SMIM1. This was the final proof the scientists needed to show that the Vel-negative blood type is caused by a lack of the SMIM1 protein on a patient's red blood cells.

 

Today, personalized medicine— where doctors treat us based on our unique biological makeup—is a hot trend. "The science of blood transfusion has been attempting personalized medicine since its inception," Ballif notes, "given that its goal is to personalize a transfusion by making the best match possible between donor and recipient.

 

"Identifying and making available rare blood types such as Vel-negative blood brings us closer to a goal of personalized medicine. Even if you are that rare one person out of 2,500 that is Vel-negative, we now know how to rapidly type your blood and find blood for you—should you need a transfusion."

 


Via Dr. Stefan Gruenwald, Adrián Gil
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Big Data in BioMedicine Conference - Stanford University School of Medicine

Big Data in BioMedicine Conference - Stanford University School of Medicine | My science | Scoop.it
The Big Data in BioMedicine Conference brings together thought leaders committed to extracting new knowledge from today’s growing volume of biomedical data to transform the way we diagnose, treat and prevent disease.
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SMIM1: Vel-Negative Blood Problem Explained

SMIM1: Vel-Negative Blood Problem Explained | My science | Scoop.it

In the early 1950's, a 66-year-old woman with colon cancer received a blood transfusion - but she suffered a severe rejection of the transfused blood. When writing the case study, the medical journal Revue D'Hématologie identified her only as "Patient Vel."

 

It was determined that Mrs. Vel had developed a potent antibody against some unknown molecule found on the red blood cells of most people in the world—but not found on her own red blood cells. But the molecule was unknown, nobody could find it. A blood mystery began, and, from her case, a new blood type, "Vel-negative," was described in 1952.

 

Soon it was discovered that Mrs. Vel was not alone. It is estimated that over 200,000 people in Europe and a similar number in North America are Vel-negative, about 1 in 2,500. For these people, successive blood transfusions could easily turn to kidney failure and death. So, for sixty years, doctors and researchers have hunted for the underlying cause of this blood type.

 

Now a team of scientists from the University of Vermont and France has found the missing molecule—a tiny protein called SMIM1—and the mystery is solved. "Our findings promise to provide immediate assistance to health-care professionals should they encounter this rare but vexing blood type," says University of Vermont's Bryan Ballif. Last year, Ballif and Arnaud identified the proteins responsible for two other rare blood types, Junior and Langeris, moving the global count of understood blood types or systems from 30 to 32. Now, with Vel, the number rises to 33. The little protein didn't reveal its identity easily. "I had to fish through thousands of proteins," Ballif says. And several experiments failed to find the culprit because of its unusual biochemistry—and pipsqueak size. But he eventually nabbed it using a high-resolution mass spectrometer funded by the Vermont Genetics Network. And what he found was new to science. "It was only a predicted protein based on the human genome," says Ballif, but hadn't yet been observed. It has since been named: Small Integral Membrane Protein 1, or SMIM1.

 

Next, Lionel Arnaud of the French National Institute of Blood Transfusion
and the team in France tested seventy people known to be Vel-negative. In every case, they found a deletion—a tiny missing chunk of DNA—in the gene that instructs cells on how to manufacture SMIM1. This was the final proof the scientists needed to show that the Vel-negative blood type is caused by a lack of the SMIM1 protein on a patient's red blood cells.

 

Today, personalized medicine— where doctors treat us based on our unique biological makeup—is a hot trend. "The science of blood transfusion has been attempting personalized medicine since its inception," Ballif notes, "given that its goal is to personalize a transfusion by making the best match possible between donor and recipient.

 

"Identifying and making available rare blood types such as Vel-negative blood brings us closer to a goal of personalized medicine. Even if you are that rare one person out of 2,500 that is Vel-negative, we now know how to rapidly type your blood and find blood for you—should you need a transfusion."

 


Via Dr. Stefan Gruenwald
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Rescooped by Adrián Gil from Longevity science
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Tailored gene therapy approach could replace drug treatments for HIV patients

Tailored gene therapy approach could replace drug treatments for HIV patients | My science | Scoop.it

One of the biggest problems in treating HIV patients is the amount of daily individual medications it takes to keep the virus at bay. In a new study, scientists at the Stanford University School of Medicine have engineered a new approach to tailored gene therapy that they say makes key cells of the immune system resistant to attack from the HIV virus, which may eventually lead to the removal of life-long dependencies on drugs for patients living with HIV.

 

 


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Nanoscale capsule kills cancer cells without harming healthy cells | KurzweilAI

Nanoscale capsule kills cancer cells without harming healthy cells | KurzweilAI | My science | Scoop.it

A degradable nanoscale shell to carry proteins to cancer cells and stunt the growth of tumors without damaging healthy cells has been developed by a team led by researchers from the UCLA Henry Samueli School of Engineering and Applied Science.

Tiny shells (about 100 nanometers in length, roughly half the size of the smallest bacterium) are composed of a water-soluble polymer that safely delivers a protein complex to the nucleus of cancer cells to induce their death. The shells degrade harmlessly in non-cancerous cells.

The process does not present the risk of genetic mutation posed by gene therapies for cancer, or the risk to healthy cells caused by chemotherapy, which does not effectively discriminate between healthy and cancerous cells, said Yi Tang, a professor of chemical and biomolecular engineering and a member of the California NanoSystems Institute at UCLA.

 

 


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AutoDesk and Organovo Team Up To Bring Printable Human Organs Closer

AutoDesk and Organovo Team Up To Bring Printable Human Organs Closer | My science | Scoop.it

Organovo’s machines print human tissue just like ordinary 3D printers—additive construction guided by 3D computer models—but instead of inert materials they deposit living cells amid a simultaneously printed gel scaffold.

 

 


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Asthma drug reverses obesity and diabetes in mice

Asthma drug reverses obesity and diabetes in mice | My science | Scoop.it

Researchers at the University of Michigan’s Life Sciences Institute have found that amlexanox, an off-patent drug used to treat asthma and canker sores, can also reduce obesity, diabetes and fatty liver disease in mice.

 

 


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Rescooped by Adrián Gil from plant cell genetics
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Nutritional assessment of transgenic lysine-rich maize compared with conventional quality protein maize

Nutritional assessment of transgenic lysine-rich maize compared with conventional quality protein maize | My science | Scoop.it

The gene sb401 encoding a lysine-rich protein has been successfully integrated into the genome of maize (Zea mays), its expression showing as increased levels of lysine and total protein in maize seeds. As part of a nutritional assessment of transgenic maize, nutritional composition, especially unintended changes in key nutrients such as proximates, amino acids, minerals and vitamins as well as in antinutrient (phytate phosphorus), and protein nutritional quality were compared between transgenic maize (inbred line 642 and hybrid line Y642) and conventional quality protein maize (QPM) Nongda 108.


Via Jean-Pierre Zryd
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Rescooped by Adrián Gil from Plant Biology Teaching Resources (Higher Education)
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ScienceDirect.com - Current Biology - Moderation of Arabidopsis Root Stemness by CLAVATA1 and ARABIDOPSIS CRINKLY4 Receptor Kinase Complexes

ScienceDirect.com - Current Biology - Moderation of Arabidopsis Root Stemness by CLAVATA1 and ARABIDOPSIS CRINKLY4 Receptor Kinase Complexes | My science | Scoop.it

Via Andres Zurita, Mary Williams
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Andres Zurita's comment, February 12, 2013 7:24 AM
excellent! thanks for scooping it¡
Mary Williams's comment, February 12, 2013 7:40 AM
My pleasure - the integration of signals at the root meristem is one of my favorite topics!
Andres Zurita's comment, February 12, 2013 7:54 AM
Great, my favorite is root development modulation by abiotic stress
Rescooped by Adrián Gil from Plant Biology Teaching Resources (Higher Education)
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Science: Losing Arable Land, China Faces Stark Choice: Adapt or Go Hungry

Science: Losing Arable Land, China Faces Stark Choice: Adapt or Go Hungry | My science | Scoop.it

Must read article from Science.

"Across the globe, scientists and policy-makers are studying how climate change will affect agriculture. But in China, the question is especially urgent. The country has roughly 20% of the world's population but only 7% of its arable land—a share that is shrinking in the face of rapid urbanization"


Via Mary Williams
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Watson now officially fighting cancer, from the cloud

Watson now officially fighting cancer, from the cloud | My science | Scoop.it
IBM is turning Watson loose on lung cancer, offering up a cloud-based service designed to let doctors from around the country find the best-possible treatments for their patients.

Via Alex Butler, Brian Shields, Ray and Terry's
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Brian Shields's curator insight, February 9, 2013 12:07 PM

Very exciting to see the leaders in tech partner with the leaders in cancer care.  I believe the next revolution in medicine will be driven by technology and the front line health care and research institutes.


Aggregating and utilizing data intelligently will help clinicians and reseachers better provide care to the community.  The lines between research trials and the standards of care may gradually blur as new technology driven treatment strategies emerge.

Laurent FLOURET's curator insight, August 20, 2014 5:32 AM

"Sloan-Kettering is also training Watson on 1,500 real-world lung cancer cases, helping it to decipher physician notes and learn from the hospital’s expertise in treating cancer."

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Artificial bone scaffold combines stem cells and plastic to heal broken bones | KurzweilAI

Artificial bone scaffold combines stem cells and plastic to heal broken bones | KurzweilAI | My science | Scoop.it

To improve bone healing, researchers at Edinburgh and Southampton universities have used a honeycomb scaffold structure, which allows blood to flow through it, enabling stem cells from the patient’s bone marrow to attach to the material and grow new bone.

Over time, the plastic slowly degrades as the implant is replaced by newly grown bone.

 

 


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New technique replaces diseased DNA, but would give kids two mothers

New technique replaces diseased DNA, but would give kids two mothers | My science | Scoop.it

Scientists hope to prevent mitochondrial disease by removing chromosomes from the eggs of affected women, and putting them into donor eggs.

 

Any children that would be born would not carry the mother’s mitochondrial mutations – but would have the mitochondrial DNA from the woman who donated her eggs.


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Twitter / mariamilhosousa: Biology with @mariamnarciso ...

Twitter / mariamilhosousa: Biology with @mariamnarciso ... | My science | Scoop.it
RT @mariamilhosousa: Biology with @mariamnarciso http://t.co/QBkRJFNFoa
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The Futuristic Biology Tech at the Center of Iron Man 3 - Gizmodo - Gizmodo

The Futuristic Biology Tech at the Center of Iron Man 3 - Gizmodo - Gizmodo | My science | Scoop.it
The Futuristic Biology Tech at the Center of Iron Man 3 - Gizmodo
Gizmodo
The Futuristic Biology Tech at the Center of Iron Man 3 Do you know what Extremis is? Unless you're an Iron Man nerd, probably not.
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Rescooped by Adrián Gil from Plant Biology Teaching Resources (Higher Education)
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IRRI: The state of play: genetically modified rice

IRRI: The state of play: genetically modified rice | My science | Scoop.it

Where is commmercialized GM rice grown? Nowhere, yet. What GM rice research is going on now? Read all about IRRI's efforts to develop nutrient enriched, drought-hardy and C4 rice.


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Mary Williams's comment, January 27, 2013 3:59 AM
And here's another, broader update on the status of GM crops http://ppg.sagepub.com/content/36/6/747.full.pdf+html
Rescooped by Adrián Gil from Plant Biology Teaching Resources (Higher Education)
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PhilTransRoySoc: Catch up on thylakoids with this special issue

PhilTransRoySoc: Catch up on thylakoids with this special issue | My science | Scoop.it

In case you missed it, there's a special issue on 'The plant thylakoid membrane: structure, organization, assembly and dynamic response to the environment' in Dec 2012 Phil Trans Roy Soc B. Lots of fine reviews!

 

http://rstb.royalsocietypublishing.org/content/367/1608.toc


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Genetics

Genetics | My science | Scoop.it
So I have been perusing this nice site for one hot minute by now and have noticed this word: genetics. What does this word mean to you?
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Trends in Plant Science - Biosynthesis of betalains: yellow and violet plant pigments

Trends in Plant Science - Biosynthesis of betalains: yellow and violet plant pigments | My science | Scoop.it

Betalains are the yellow and violet pigments that substitute anthocyanins in plants belonging to the order Caryophyllales. These pigments have attracted much attention because of their bioactivities, which range from an antioxidant capacity to the chemoprevention of cancer. However, the biosynthetic pathway of betalains remains under discussion; the main steps have been characterized in recent years, but multiple side reactions are possible. The key enzymes involved have only recently been described, providing clues about the regulation of betalain biosynthesis. In this review, we provide a comprehensive view of the biosynthetic scheme of betalains and discuss the different reactions that have been demonstrated experimentally or proposed in the literature.


Via Jean-Pierre Zryd
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3-D Molecular Designs - Molecular Education Products

3-D Molecular Designs - Molecular Education Products | My science | Scoop.it
3D Molecular Designs (with the Center for Biomolecular Modeling) creates hand-held molecular models in a variety of types and formats to assist in science education.

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Mary Williams's curator insight, February 14, 2013 5:02 AM

This is a fun (but pricey) site! Check out the posters by David Goodsell. I used to have a poster of Inside a Human Cell on my wall and I loved it but lost it. Now I can get a new one! It is one of the few images that I think conveys the density and complexity of a cell.

sonia ramos's curator insight, February 15, 2013 4:02 AM

Para Educadores con presupuesto...

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New Phytologist: Heavy traffic in the fast lane: long-distance signalling by macromolecules

New Phytologist: Heavy traffic in the fast lane: long-distance signalling by macromolecules | My science | Scoop.it

"This review focuses on the signalling functions conveyed by the movement of macromolecules. Here, a signal is defined as the communication of information from source to destination, where it modifies development, physiology or defence through altered gene expression or by direct influences on other cellular processes."


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Mary Williams's curator insight, February 14, 2013 11:55 AM

I just love this stuff. When I was a student we didn't learn about plants as integrated parts maintaining homeostasis through long-distance signals - it's all a relatively new way of understanding plants!

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Science: Jack of All Trades, Master of Flowering

Science: Jack of All Trades, Master of Flowering | My science | Scoop.it

"Carbohydrates are thought to play a crucial role in the regulation of flowering, and trehalose-6-phosphate (T6P) has been suggested to function as a proxy for carbohydrate status in plants. The loss of TREHALOSE-6-PHOSPHATE SYNTHASE 1 (TPS1) causes Arabidopsis thaliana to flower extremely late, even under otherwise inductive environmental conditions. This suggests that TPS1 is required for the timely initiation of flowering. We show that the T6P pathway affects flowering both in the leaves and at the shoot meristem, and integrate TPS1 into the existing genetic framework of flowering-time control. "


Via Mary Williams
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Mary Williams's curator insight, February 8, 2013 3:28 AM

Great! Trehalose-6-phophate is such an interesting molecule....

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Plants cut the mustard for basic discoveries in metabolism - EurekAlert (press release)

Plants cut the mustard for basic discoveries in metabolism - EurekAlert (press release) | My science | Scoop.it
Plants cut the mustard for basic discoveries in metabolism EurekAlert (press release) While such details may seem abstract, these basic biochemical insights are fundamental to the development of better crops and therapies for disease, including the...

Via Jean-Pierre Zryd
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Request for a serious reconsideration of the paper by Seralini &al - Wager &al (2013) - Food Chem Toxicol

As you are undoubtedly aware, the use of molecular methods to improve crop plants, now known as GMOs, continues to be a highly controversial subject globally despite the absence of evidence, to date, of human, animal or environment harm. The paper by Seralini et al. makes claims that contradict a large body of literature on the subject, reviewed recently in your journal by Snell et al. (2012). This review, analyses by serious scientific bodies, including the U.S. National Academy of Sciences and the Royal Society, as well as the European Union’s recent overview of 25 years of biosafety research on GMOs, all conclude that there are no negative health impacts specifically attributable to the use of molecular methods of crop improvement. Moreover, the herbicide glyphosate, which affects an enzyme present in plants, but not animals, has a short residence time in the environment and a long history of safe use, as does the bacterium Bacillus thuringiensis, from which the so-called “Bt” gene was transferred to a number of crops to render them resistant to certain kinds of insect pests.

 

Seralini et al. make the extraordinary claim that rats fed GM corn, with or without added glyphosate, develop tumors earlier in life and die prematurely compared with controls, attributing enhanced morbidity and mortality to consumption of the GM corn and herbicide. Such extraordinary claims must be based on sound and extensive evidence, as they are guaranteed to cause – and indeed, have caused – widespread alarm. As detailed below, this study does not provide sound evidence to support its claims. Indeed, the flaws in the study are so obvious that the paper should never have passed review. This appears to be a case of blatant misrepresentation and misinterpretation of data to advance an anti-GMO agenda by an investigator with a clear vested interest. We find it appalling that a journal with the substantial reputation of FCT published such “junk” science so clearly intended to alarm and mislead...


Via Alexander J. Stein, Jean-Pierre Zryd
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ScienceDirect.com - Current Biology - Moderation of Arabidopsis Root Stemness by CLAVATA1 and ARABIDOPSIS CRINKLY4 Receptor Kinase Complexes

ScienceDirect.com - Current Biology - Moderation of Arabidopsis Root Stemness by CLAVATA1 and ARABIDOPSIS CRINKLY4 Receptor Kinase Complexes | My science | Scoop.it

Via Andres Zurita, Mary Williams
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Andres Zurita's comment, February 12, 2013 7:24 AM
excellent! thanks for scooping it¡
Mary Williams's comment, February 12, 2013 7:40 AM
My pleasure - the integration of signals at the root meristem is one of my favorite topics!
Andres Zurita's comment, February 12, 2013 7:54 AM
Great, my favorite is root development modulation by abiotic stress