Mutations – Newsemia

MKRN3 and KISS1R mutations in precocious and early puberty

NewsemiaMarch 31, 2020

by NewsemiaMarch 31, 2020036

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, 2020030

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, 2020026

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, 2020031

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, 202004

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, 2020031

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, 2020033

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, 202003

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...

Biology

Compensatory Mutations in GI and ZTL May Modulate Temperature Compensation in the Circadian Clock

NewsemiaFebruary 25, 2020

by NewsemiaFebruary 25, 202003

Circadian systems share the three properties of entrainment, free-running period, and temperature compensation (TC). TC ensures nearly the same period over a broad range of...

Latest News

Frequent and Persistent PLCG1 Mutations in Sezary Cells Directly Enhance PLC gamma 1 Activity and Stimulate NF kappa B, AP-1, and NFAT Signaling

NewsemiaFebruary 24, 2020

by NewsemiaFebruary 24, 2020045

Patel, VM; Flanagan, CE; Martins, M; Jones, CL; Butler, RM; Woollard, WJ; Bakr, FS; … Mitchell, TJ; + view all Patel, VM; Flanagan, CE; Martins,...

Neurology

Neurologic phenotypes associated with COL4A1/2 mutations: Expanding the spectrum of disease

NewsemiaFebruary 18, 2020

by NewsemiaFebruary 18, 2020036

Neurologic phenotypes associated with COL4A1/2 mutations: Expanding the spectrum of disease Source link...

Latest News

Researchers compile large catalog of cancer mutations

NewsemiaFebruary 6, 2020

by NewsemiaFebruary 6, 2020010

Mutations in 38 different types of cancer have been mapped by means of whole genome analysis by an international team of researchers from, amongst others,...

Pediatrics

Subacute Neuropsychiatric Syndrome in Girls With SHANK3 Mutations Responds to Immunomodulation

NewsemiaFebruary 4, 2020

by NewsemiaFebruary 4, 202003

Phenotypic and biological characterization of rare monogenic disorders represents 1 of the most important avenues toward understanding the mechanisms of human disease. Among patients with...

Latest News

Comparing DNA-repair gene mutations in African American and Caucasian men with prostate cancer

NewsemiaFebruary 3, 2020

by NewsemiaFebruary 3, 2020031

Pathogenic or likely pathogenic alterations in these 14 DNA repair genes were less likely to be detected in African Americans as compared to Caucasians. Source...

Cardiology

Identification of FOXH1 mutations in patients with sporadic conotruncal heart defect.

NewsemiaFebruary 1, 2020

by NewsemiaFebruary 1, 2020030

Related Articles Identification of FOXH1 mutations in patients with sporadic conotruncal heart defect. Clin Genet. 2020 Jan 31;: Authors: Wei W, Li B, Li F,...

Gastroenterology

Identification of new mutations in patients with hereditary spherocytosis by next-generation sequencing

NewsemiaJanuary 26, 2020

by NewsemiaJanuary 26, 2020021

Identification of new mutations in patients with hereditary spherocytosis by next-generation sequencing Source link...

Latest News

DNA sleuths read the coronavirus genome, tracing its origins and looking for dangerous mutations

NewsemiaJanuary 25, 2020

by NewsemiaJanuary 25, 2020018

As infectious disease specialists and epidemiologists race to contain the outbreak of the novel coronavirus centered on Wuhan, China, they’re getting backup that’s been possible...

Latest News

New tumor-driving mutations discovered in the under-explored regions of the cancer genome

NewsemiaJanuary 18, 2020

by NewsemiaJanuary 18, 2020017

In an unprecedented pan-cancer analysis of whole genomes, researchers at the Ontario Institute for Cancer Research (OICR) have discovered new regions of non-coding DNA that,...