Sentences with phrase «by these mutations leads»

They found that the inactivation of POT1 caused by these mutations leads to longer and potentially unprotected telomeres, regions at the end of our chromosomes that protect chromosomes from damage.

Not exact matches

Sickle cell anemia is caused by a genetic mutation that leads to «sickling» of the red blood cells.

And when compared to the genetic contributions of the mother, older fathers are responsible for nearly all of a child's random genetic mutations: a father's age at conception may account for 97 % of the new, or de novo, mutations found in his offspring, according to the new study led by Augustine Kong at deCODE Genetics in Iceland.

The scientists from the Montreal Neurological Institute and Hospital at McGill University, led by Peter McPherson, along with collaborators in Saudi Arabia, Jordan, Germany, and at SickKids Hospital and the University of Toronto, have discovered that a severe form of epileptic encephalopathy is caused by recessive loss - of - function mutations in the gene DENND5A.

Further investigations showed that the mutation causes reduced CTLA - 4 function, which led to increased infiltration of the intestinal mucosa by T - cells and therefore to chronic diarrhea.

«Too much of this building block due to SAMHD1 deficiency caused by genetic mutations can lead to autoimmune diseases and help cancerous tumors grow.

Their blindness was caused by either mutations in the genes RPE65 or LRAT, leading to a serious defect in the retinoid cycle.

Lederman believes that may be because the horsepox virus used by Jenner evolved during the almost 180 years it was used, racking up mutations that made it better at replicating in humans, which led to more serious side effects.

The disease is caused by a genetic mutation that leads to abnormal clumps of protein in the brain, eventually resulting in the atrophy and death of nerve cells.

ALD, for instance, is caused by mutations in a gene called ABCD1, leading to unusually high levels of a type of fatty acid that damages the material insulating some neurons.

Researchers from Massachusetts General Hospital (MGH) led a large, international research team that has identified gene mutations associated with a rare congenital condition involving the absence of a nose and often accompanied by defects involving the eye and reproductive systems.

Inna Afonina and Elien Van Nuffel under the leadership of prof Rudi Beyaert (VIB / UGent) investigated the molecular signaling mechanism by which mutations in CARD14 lead to increased inflammation in psoriasis patients.

Jackson's group reports in next month's Nature Genetics that it has found the mutation in one woman; it is unclear how the defect leads to obesity, but Jackson says it almost certainly has something to do with a lack of a hormone normally processed by the enzyme.

A VIB / UGent research team now reveals the molecular signaling mechanism by which mutations in CARD14 lead to increased inflammation in patients with psoriasis.

«Our study connects the dots between Werner syndrome and heterochromatin disorganization, outlining a molecular mechanism by which a genetic mutation leads to a general disruption of cellular processes by disrupting epigenetic regulation,» says Izpisua Belmonte.

For his part, Collins, who has led NIH since 2009 and been kept on by the Trump administration, pointed to an array of promising NIH activities, including the development of new technologies to provide insights into human brain circuitry and function through the Brain Research through Advancing Innovative Neuroethologies (BRAIN initiative) and the use of the gene - editing tool CRISPR - Cas9 to correct mutations and clear the way to develop and test a «curative therapy» for the first molecular disease: sickle cell disease.

Now, results described in tomorrow's issue of Nature suggest that BRCA2 mutations could lead to cancer by interfering with cells» ability to repair damaged DNA.

Scientists have discovered a new way for genetic mutations to lead to cancer — by rendering neighboring stretches of DNA more likely to be mutated.

Years after her ordeal, which she survived, scientists led by Jean - Laurent Casanova discovered that it could be explained by a rare mutation she carries that prevented her from producing a protein, interferon, that helps fight off the virus.

The Liverpool - led team found that this colour change was produced by a mutation in the cortex gene, which occurred during the mid 1800s, just before the first reported sighting of black peppered moths.

A study in 2013, also led by the School, suggested an initial link between a mutation in the ap2mu gene and low levels of malaria parasites remaining in the blood of Kenyan children after they had been treated.

That's the hope of a team led by Yuet Kan of the University of California, San Francisco — and they have proved the principle, altering the genome of induced pluripotent stem cells (iPSCs) to give them a natural mutation that allows some people to resist HIV.

The study, led by researchers at Boston University School of Medicine (BUSM), reports sporadic mutations in the APC / C protein complex, specifically in the essential protein component Cdh1, which may predispose humans to developing melanoma from the loss of the APC / C protein complex.

That's the hope of researchers led by Yuet Kan of the University of California, San Francisco — and they have proved the basic principle, altering the genome of induced pluripotent stem cells (iPSCs) to give them a rare natural mutation that allows some people to resist HIV.

A particular genetic mutation, according to an international team led by researchers at the University of Oxford.

New research led by Li Ding, Ph.D., of Washington University School of Medicine in St. Louis, shows that current approaches to genome analysis systematically miss detecting a certain type of complex mutation in cancer patients» tumors.

One branch leads to M173, which is a mutation shared by most people of Western European descent.

However, new research led by evolutionary biologist Jay Storz of the University of Nebraska - Lincoln has found that whether a given mutation is good or bad is often determined by other mutations associated with it.

A team of scientists led by Virginia Commonwealth University physicist Jason Reed, Ph.D., have developed new nanomapping technology that could transform the way disease - causing genetic mutations are diagnosed and discovered.

In a new evolutionary proof of the old adage, «we are what we eat», Cornell University scientists have found tantalizing evidence that a vegetarian diet has led to a mutation that — if they stray from a balanced omega - 6 to omega - 3 diet — may make people more susceptible to inflammation, and by association, increased risk of heart disease and colon cancer.

The fat, eyeless cavefish harbor the same genetic mutation as people with an inherited form of severe diabetes and experience diabetes - like blood - sugar surges and crashes after eating, yet they are perfectly healthy, according to a study in Nature led by geneticists at Harvard Medical School.

The fly came out of a project led by Kyung - Tai Min and Seymour Benzer of the California Institute of Technology in Pasadena, who study fly mutations that mimic human neurodegenerative conditions.

Now a new study led by scientists at The Scripps Research Institute (TSRI) and the Scripps Translational Science Institute (STSI) suggests that «molecular autopsies» may be valuable in detecting gene mutations responsible for a sudden death.

They noted that a U.S. - led team in Mexico may have prevented Leigh syndrome in a child by replacing the mutation - bearing mitochondria of oocytes with donated mutation - free oocytes.

New research led by UC San Francisco scientists has revealed that mutations in a gene linked with brain development may dispose people to multiple forms of psychiatric disease by changing the way brain cells communicate.

In a randomized, phase 2 multi-center clinical study, led by Manisha Shah, MD of The Ohio State University Comprehensive Cancer Center — Arthur G. James Cancer Hospital and Richard J. Solove Research Institute (OSUCCC — James), investigators tested the effectiveness of the targeted therapy drug, dabrafenib (pronounced «da bRAF e nib» and marketed as Tafinlar), given alone compared with the same drug given in combination with trametinib (pronounced «tra ME ti nib,» marketed at MeKinist) to treat a subset of advanced papillary thyroid cancer patients with B - raf mutations.

The researchers found that mutations to a gene called ATF6, a key regulator of the unfolded protein response, can lead to achromatopsia, a hereditary visual disorder characterized by color blindness, decreased vision, light sensitivity, and uncontrolled eye movement in children.

The researchers, led by Dr Charles Wondji, used a wide range of methods to narrow down how the resistance works, finding a single mutation in the GSTe2 gene, which makes insects break down DDT so it's no longer toxic.

Researchers found that a dominant mutation in CLPX inherited by members of this family reduced the degradation associated with one of its target proteins, ALAS, which subsequently led to the accumulation of protoporphyrin IX (PPIX).

The inherited autoinflammatory disease Familial Mediterranean Fever (FMF) is caused by mutations that lead to continuous activation of pyrin.

In 2006, Penn researchers led by Kaplan and Eileen Shore, PhD, the Cali - Weldon Professor of FOP Research and a co-author on the current study, discovered how a mutation in the gene for a BMP receptor called Activin Receptor A type I (ACVR1) occurs in all individuals who have classic FOP.

A team led by Jos Jonkers at the Netherlands Cancer Institute discovered that a mouse harboring an analog of the cancer - associated human BRCA1 mutation, BRCA1184delAG, expresses a BRCA1 protein that is missing a structural component called a RING domain.

Using a genome - wide approach in a new dog model for copper toxicosis, a team of researchers led by Hille Fieten have now revealed that mutations in a copper transporter gene, ATP7A, can ameliorate symptoms of the disease.

The team, led by Professor Laurence Hurst at the Milner Centre for Evolution, University of Bath hypothesised that since core concepts of genetics (such as DNA and mutation) are so intimately linked to the core concepts of evolution, then priming students with genetics information might help their understanding of evolution.

Having identified the mechanism by which the gene mutation leads to neuropathy, the researchers tried amplifying the «health» signal to see if they could override the blockade of the mutant GlyRS molecules.

«When the cancer cells shed these mutations, they discard the evidence that would normally lead them to be recognized by the body's protective immune cells.»

But the September study, led by Ephrat Levy - Lahad, a medical geneticist at Shaare Zedek Medical Center in Jerusalem, argued that other families shared a similarly high risk if they carried the same mutations.

Most of these «familial» cases have been linked to mutations in a gene called BMPR2 (bone morphogenetic protein receptor, type II), which was identified simultaneously in 2000 by two independent research teams, one led by the late Robin Barst and Jane Morse, CUMC researchers.

A study by Dr. Wendy Chung has identified six new mutations in a gene called KCNK3 that can interfere with the function of potassium channels and lead to pulmonary hypertension.

For instance, notations next to the mutations described in today's Science paper, from a laboratory led by Ron Fouchier of Erasmus MC in the Netherlands, notes that they make the «H5 virus transmissible among ferrets.»