Mutation News and Research

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Study brings precision medicine closer to reality for diffuse large B cell lymphoma

DNA mutations are essential to the rapid development of an array of antibody-producing immune cells called B cells that collectively can recognize a vast number of specific targets.

25 May 2022

Hydration restores airway integrity in people with cystic fibrosis

Cystic fibrosis is a rare genetic disease which can cause very serious symptoms. In particular, patients suffer from chronic bacterial infections that can lead to respiratory failure.

24 May 2022

Study identifies a gene that plays an important role in embryo development

A new study co-led by a Cedars-Sinai investigator identified a gene that plays an important role in a biological pathway involved in embryo development.

24 May 2022

The impact of SARS-CoV-2 nucleocapsid protein mutations on the performance of rapid antigen tests

The study findings showed that the rapid antigen tests with the DMS approach could accurately identify antibody escape mutations in the SARS-CoV-2 N protein.

24 May 2022

Omicron vaccine breakthrough infections induce potent cross-reactive antibodies

In a recent study published in the journal Cell, researchers demonstrated that antibodies generated due to breakthrough infection (BTI) by severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) new variant of concern (VOC) Omicron in vaccinated individuals could neutralize all VOCs.

24 May 2022

Study sheds light on the molecular biology behind genetic epilepsy

Sometimes, even the alteration of a single nucleotide in a gene can cause serious disease. In a young boy with epilepsy, this kind of mutation has not just affected the functioning of the protein in question – it could also curb the functioning of several closely related proteins.

23 May 2022

Antibiotic rifampicin attenuates C9orf72-linked dementia in genetically modified mice

What did Stephen Hawking and Mao Zedong have in common? They both suffered from Amyotrophic Lateral Sclerosis (ALS), a cure for which remains elusive. Scientists from Osaka Metropolitan University took an important step toward prevention of ALS and another brain disorder called Frontotemporal dementia (FTD) with their research on the effects of the antibiotic rifampicin on genetically modified mice.

23 May 2022

Novel genetic test enables earlier, more accurate diagnosis of primary immunodeficiency disorders

Primary immunodeficiency disorders (PID) can result in chronic and sometimes life-threatening infections. More than 450 PIDs have been described, but timely and accurate diagnoses remain a challenge.

23 May 2022

Study suggests that recall of B cell memory may depend on relative locations of prime and boost immunization

A new study investigated whether a specific population of local Bmem cells in the proximal LNs produce secondary GC responses that are different from those at distal sites and if the location in humoral immunity is relevant only to nonlymphoid tissues.

23 May 2022

Tiny shark-derived antibodies broadly neutralize most SARS-CoV-2 variants

Resarchers discuss the ability of shark-derived antibodies to protect against multiple variants of SARS-CoV-2.

23 May 2022

Olverembatinib a potent inhibitor of Omicron NTD-mediated cytokine release

Researchers determine whether mutations in the Omicron NTD influence its potential to stimulate myeloid cells and enhance inflammatory cytokine release.

22 May 2022

Discoveries may lead to new ways to treat patients with Allan-Herndon-Dudley syndrome

Two recent discoveries co-led by scientists at Cedars-Sinai may help lead to new ways to treat patients with Allan-Herndon-Dudley syndrome (AHDS), a brain development disorder that causes severe intellectual disability and problems with movement.

20 May 2022

Important methodology for targeting conserved epitopes of SARS-CoV-2 and an immune-focused approach in pan-sarbeco and universal CoV vaccine design

A new study has focused on designing immunogens associated with the conserved region of the spike protein of SARS-CoV-2.

20 May 2022

Study demonstrates that ATV006 is orally bioavailable and has potent efficacy against SARS-CoV-2

A new study has revealed that ATV006, which is a 5′-hydroxyl-isobutyryl prodrug, possesses extraordinary oral pharmaco-kinetic (PK) profiles in rats and cynomolgus monkeys and exhibited significant antiviral activity against ancestral SARS-COV-2 strain as well as VOCs.

20 May 2022

Hyperinsulinemic patients with breast cancer may be responsive to metabolism-targeting treatments

Scientists at Yale Cancer Center have found that patients with breast cancer and high levels of insulin in the blood may be responsive to metabolism-targeting treatments, which in turn may improve the effectiveness of subsequent chemotherapy treatments.

20 May 2022

Studies provide insight into how long COVID-19 immunity lasts and nature of immune recall

How does the immune system remember and recognize viral invaders it has encountered in the past? A trio of newly published studies of people infected with SARS-CoV-2, vaccinated against the virus or both, are providing tantalizing new clues about the factors that influence the speed and magnitude of the immune system's response to subsequent infection with variants of SARS-CoV-2.

19 May 2022

Plastins may promote disease when they act like workaholics and disrupt cellular environment

A family of proteins that have a role in ensuring many types of cells move and maintain their shape may promote disease when they act like workaholics and disrupt the cellular environment, new research suggests.

19 May 2022

L452R mutation a key player in the evolution of SARS-CoV-2

In a recent study published in the bioRxiv* preprint server, researchers analyzed the characteristics of severe acute respiratory syndrome coronavirus-2 (SARS-CoV-2) Omicron subvariants BA.4, BA.5, and BA.2.12.1.

19 May 2022

Epistatic drift leads to unpredictability in protein evolution

A critical goal in genetics and evolution is predicting the effects of mutations that may happen in the future and inferring the effects of those that happened in the past.

19 May 2022

Epilepsy drug inhibits the growth of NF1 tumors in mice

People with neurofibromatosis type 1 (NF1) develop tumors on nerves throughout their bodies. These tumors are usually benign - meaning they don't spread to other parts of the body and are not considered life-threatening - but they can still cause serious medical problems such as blindness, especially when they form in the brain and nerves.

19 May 2022

Mutation News and Research

Study brings precision medicine closer to reality for diffuse large B cell lymphoma

Hydration restores airway integrity in people with cystic fibrosis

Study identifies a gene that plays an important role in embryo development

The impact of SARS-CoV-2 nucleocapsid protein mutations on the performance of rapid antigen tests

Omicron vaccine breakthrough infections induce potent cross-reactive antibodies

Study sheds light on the molecular biology behind genetic epilepsy

Antibiotic rifampicin attenuates C9orf72-linked dementia in genetically modified mice

Novel genetic test enables earlier, more accurate diagnosis of primary immunodeficiency disorders

Study suggests that recall of B cell memory may depend on relative locations of prime and boost immunization

Tiny shark-derived antibodies broadly neutralize most SARS-CoV-2 variants

Olverembatinib a potent inhibitor of Omicron NTD-mediated cytokine release

Discoveries may lead to new ways to treat patients with Allan-Herndon-Dudley syndrome

Important methodology for targeting conserved epitopes of SARS-CoV-2 and an immune-focused approach in pan-sarbeco and universal CoV vaccine design

Study demonstrates that ATV006 is orally bioavailable and has potent efficacy against SARS-CoV-2

Hyperinsulinemic patients with breast cancer may be responsive to metabolism-targeting treatments

Studies provide insight into how long COVID-19 immunity lasts and nature of immune recall

Plastins may promote disease when they act like workaholics and disrupt cellular environment

L452R mutation a key player in the evolution of SARS-CoV-2

Epistatic drift leads to unpredictability in protein evolution

Epilepsy drug inhibits the growth of NF1 tumors in mice

Managing vibration in IVF laboratories

Improving healthcare sustainability through carbon data

A New Approach to Preventing Bladder Cancer Recurrence

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