Neurologic phenotypes associated with COL4A1/2 mutations: Expanding the spectrum of disease
Neurologic phenotypes associated with COL4A1/2 mutations: Expanding the spectrum of disease Source link...
Tag : Mutations
Researchers compile large catalog of cancer mutations
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,...
Subacute Neuropsychiatric Syndrome in Girls With SHANK3 Mutations Responds to Immunomodulation
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...
Comparing DNA-repair gene mutations in African American and Caucasian men with prostate cancer
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...
Identification of FOXH1 mutations in patients with sporadic conotruncal heart defect.
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,...
Identification of new mutations in patients with hereditary spherocytosis by next-generation sequencing
Identification of new mutations in patients with hereditary spherocytosis by next-generation sequencing Source link...
DNA sleuths read the coronavirus genome, tracing its origins and looking for dangerous mutations
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...
New tumor-driving mutations discovered in the under-explored regions of the cancer genome
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,...
Low doses of radiation used in medical imaging lead to mutations in cell cultures
Common medical imaging procedures use low doses of radiation that are believed to be safe. A new study, however, finds that in human cell cultures,...
Harmful genetic mutations in healthy donors' stem cells may create problems in AML patients
A stem cell transplant – also called a bone marrow transplant – is a common treatment for blood cancers, such as acute myeloid leukemia. Source...
Synergy Between Mutations in Insulin Signaling and TOR Pathways Extends Life Fivefold in Nematodes
Most interventions that increase longevity in short-lived laboratory species, such as the nematodes used here, are just different ways of influencing the same underlying stress...
Associations of Pathogenic Variants in MLH1, MSH2, and MSH6 With Risk of Colorectal Adenomas and Tumors and With Somatic Mutations in Patients With Lynch Syndrome
Lynch syndrome is caused by alterations in a specific group of genes. Patients with different types of genetic alterations develop adenomas and CRC at different...
Mutations in TOMM70 lead to multi-OXPHOS deficiencies and cause severe anemia, lactic acidosis, and developmental delay
Mutations in TOMM70 lead to multi-OXPHOS deficiencies and cause severe anemia, lactic acidosis, and developmental delay Source link...
A new deep learning approach to predict disease-associated mutations
During the past years, artificial intelligence (AI) — the capability of a machine to mimic human behavior — has become a key player in high-techs...
Different mutations in a single gene can have myriad effects on a person's health
Mount Sinai researchers have found that different mutations in a single gene can have myriad effects on a person’s health, suggesting that gene therapies may...
Oncogenic Mutations in Armadillo Repeats 5 and 6 of β-catenin Reduce Binding to APC, Increasing Signaling and Transcription of Target Genes
The β-catenin signaling pathway is one of the most commonly deregulated pathways in cancer cells. Amino-acid substitutions within armadillo repeats 5 and 6 (K335, W383,...