Mutations – Newsemia

Undifferentiated carcinoma with osteoclast-like giant cells of the pancreas harboring KRAS and BRCA mutations: case report and whole exome sequencing analysis

NewsemiaJune 27, 2020

by NewsemiaJune 27, 202000

Undifferentiated carcinoma with osteoclast-like giant cells (UC-OGC) is an extremely uncommon pancreatic neoplasm that comprises less than 1% of all exocrine pancreatic tumors. To date,...

Pediatrics

Scientists uncover new genetic mutations linked to autism spectrum disorder

NewsemiaJune 24, 2020

by NewsemiaJune 24, 202000

Scientists have identified mutations in a gene called CNOT1 that affect brain development and impair memory and learning. The research also revealed that CNOT1 interacts...

Neurology

The rate we acquire genetic mutations could help predict lifespan and fertility

NewsemiaJune 20, 2020

by NewsemiaJune 20, 202000

Young adults who acquire fewer genetic mutations over time lived five years longer than those who acquired them more rapidly. Source link...

Latest News

Differences in accumulation of genetic mutations could help predict lifespan, fertility

NewsemiaJune 19, 2020

by NewsemiaJune 19, 202000

Differences in the rate that genetic mutations accumulate in healthy young adults could help predict the remaining lifespan in both sexes and the remaining years...

Latest News

Coronavirus Becoming More Dangerous Despite Not Mutating, WHO Says

NewsemiaJune 5, 2020

by NewsemiaJune 5, 202005

According to a new update from the World Health Organization, the coronavirus behind the pandemic isn’t mutating to become more dangerous. However, that doesn’t make...

Latest News

Many cells in human uterus carry 'cancer-driving' mutations that arise early in life

NewsemiaApril 23, 2020

by NewsemiaApril 23, 2020019

Many cells in the inner lining of the uterus carry ‘cancer-driving’ mutations that frequently arise early in life, report scientists from the Wellcome Sanger Institute,...

Biology

Mutations Beget More Mutations—Rapid Evolution of Mutation Rate in Response to the Risk of Runaway Accumulation

NewsemiaApril 20, 2020

by NewsemiaApril 20, 202007

Abstract The rapidity with which the mutation rate evolves could greatly impact evolutionary patterns. Nevertheless, most studies simply assume a constant rate in the time...

Latest News

Predicting the evolution of genetic mutations

NewsemiaApril 14, 2020

by NewsemiaApril 14, 2020020

Biologists have developed an algorithm able to predict how genetic mutations can make critical proteins change with evolution. Source link...

Neurology

Rare, damaging inherited mutations work together to reduce lifespan

NewsemiaApril 9, 2020

by NewsemiaApril 9, 2020020

People who have a high burden of ultra-rare protein-truncating variants (PTVs) have a shorter healthspan and lifespan. Each additional ultra-rare PTV in a person’s genome...

Neurology

Presence of val30Met and val122ile mutations in a patient with hereditary amyloidosis

NewsemiaApril 9, 2020

by NewsemiaApril 9, 202007

Presence of val30Met and val122ile mutations in a patient with hereditary amyloidosis Source link...

Pediatrics

MKRN3 and KISS1R mutations in precocious and early puberty

NewsemiaMarch 31, 2020

by NewsemiaMarch 31, 2020038

Pubertal timing is known to be influenced by interactions among various genetic, nutritional, environmental and socio-economic factors, although the ultimate mechanisms underlying the increase in...

Latest News

Plasma monitoring of EGFR mutations in NSCLC may help predict resistance to tyrosine kinase inhibitors

NewsemiaMarch 22, 2020

by NewsemiaMarch 22, 2020037

Oncotarget Volume 11, Issue 11 reported that at clinical progression, 64 EGFR T790M plasma positive patients were subjected to second line-treatment with osimertinib and strictly...

Pediatrics

Researchers catalog dozens of mutations in crucial brain development gene

NewsemiaMarch 14, 2020

by NewsemiaMarch 14, 2020032

An international team of researchers that pooled genetic samples from developmentally disabled patients from around the world has identified dozens of new mutations in a...

Gastroenterology

GERMLINE MUTATIONS IN FAF1 ARE ASSOCIATED WITH HEREDITARY COLORECTAL CANCER

NewsemiaMarch 14, 2020

by NewsemiaMarch 14, 2020032

A significant proportion of colorectal cancer (CRC) cases have familial aggregation but little is known about the genetic factors that contribute to these cases. We...

AI/ML

Predicting the impacts of mutations on protein-ligand binding affinity based on molecular dynamics simulations and machine learning methods.

NewsemiaMarch 11, 2020

by NewsemiaMarch 11, 2020011

Related Articles Predicting the impacts of mutations on protein-ligand binding affinity based on molecular dynamics simulations and machine learning methods. Comput Struct Biotechnol J. 2020;18:439-454...

Biology

Somatic Mutations and Genome Stability Maintenance in Clonal Coral Colonies

NewsemiaMarch 10, 2020

by NewsemiaMarch 10, 202005

Abstract One challenge for multicellular organisms is maintaining genome stability in the face of mutagens across long life spans. Imperfect genome maintenance leads to mutation...

Gastroenterology

Mutations in the coat complex II component SEC23B promote colorectal cancer metastasis

NewsemiaMarch 2, 2020

by NewsemiaMarch 2, 202009

Mutations in the coat complex II component SEC23B promote colorectal cancer metastasis Source link...

Gastroenterology

Commonly observed RNF43 mutations retain functionality in attenuating Wnt/β-catenin signaling and unlikely confer Wnt-dependency onto colorectal cancers

NewsemiaMarch 1, 2020

by NewsemiaMarch 1, 2020032

Commonly observed RNF43 mutations retain functionality in attenuating Wnt/β-catenin signaling and unlikely confer Wnt-dependency onto colorectal cancers Source link...

Pediatrics

Novel CDKL5 mutations were found in patients in China: retrospective investigation in cases of CDKL5-related disorders

NewsemiaFebruary 29, 2020

by NewsemiaFebruary 29, 2020036

CDKL5-related disorders (CDD) is an epileptic encephalopathy resulted of gene mutations of CDKL5. This study aimed to explore the development process of CDD and to...

Neurology

Scientists reveal ability to reverse Huntington's disease-causing DNA repeat mutations in the lab

NewsemiaFebruary 28, 2020

by NewsemiaFebruary 28, 202004

Neurodegenerative diseases, like Huntington’s disease and myotonic dystrophy, are often referred to as DNA repeat diseases, named because of long repeated sequences in the DNA...

Newsemia

Tag: Mutations

Undifferentiated carcinoma with osteoclast-like giant cells of the pancreas harboring KRAS and BRCA mutations: case report and whole exome sequencing analysis

Scientists uncover new genetic mutations linked to autism spectrum disorder

The rate we acquire genetic mutations could help predict lifespan and fertility

Differences in accumulation of genetic mutations could help predict lifespan, fertility

Coronavirus Becoming More Dangerous Despite Not Mutating, WHO Says

Many cells in human uterus carry 'cancer-driving' mutations that arise early in life

Mutations Beget More Mutations—Rapid Evolution of Mutation Rate in Response to the Risk of Runaway Accumulation

Predicting the evolution of genetic mutations

Rare, damaging inherited mutations work together to reduce lifespan

Presence of val30Met and val122ile mutations in a patient with hereditary amyloidosis

MKRN3 and KISS1R mutations in precocious and early puberty

Plasma monitoring of EGFR mutations in NSCLC may help predict resistance to tyrosine kinase inhibitors

Researchers catalog dozens of mutations in crucial brain development gene

GERMLINE MUTATIONS IN FAF1 ARE ASSOCIATED WITH HEREDITARY COLORECTAL CANCER

Predicting the impacts of mutations on protein-ligand binding affinity based on molecular dynamics simulations and machine learning methods.

Somatic Mutations and Genome Stability Maintenance in Clonal Coral Colonies

Mutations in the coat complex II component SEC23B promote colorectal cancer metastasis

Commonly observed RNF43 mutations retain functionality in attenuating Wnt/β-catenin signaling and unlikely confer Wnt-dependency onto colorectal cancers

Novel CDKL5 mutations were found in patients in China: retrospective investigation in cases of CDKL5-related disorders

Scientists reveal ability to reverse Huntington's disease-causing DNA repeat mutations in the lab

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