Mutations

GATA6 mutations: Characterization of two novel patients and a comprehensive overview of the GATA6 genotypic and phenotypic spectrum.

GATA6 mutations: Characterization of two novel patients and a comprehensive overview of the GATA6 genotypic and phenotypic spectrum. Am J Med Genet A. 2019 Jul 12;: Authors: Škorić-Milosavljević D, Tjong...

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Researchers identify gene mutations linked to leukemia in children with Down's syndrome

Researchers at the University of Oxford, in collaboration with colleagues from Hannover Medical School and Martin-Luther-University Halle-Wittenberg, have discovered the specific gene mutations that are required for the development of...

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Phenotypic and mutational spectrum of thirty-five patients with Sjögren–Larsson syndrome: identification of eleven novel ALDH3A2 mutations and founder effects

Phenotypic and mutational spectrum of thirty-five patients with Sjögren–Larsson syndrome: identification of eleven novel ALDH3A2 mutations and founder effects Source link

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Analysis of Longevity Enhancing Loss of Function Mutations in the E(z) Gene

This open access paper is a good example of the sort of work that follows identification of a longevity-enhancing mutation in a laboratory species, flies in this case. Finding such...

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Triplet-targeted therapy improves survival for patients with advanced colorectal cancer and BRAF mutations

The three-drug combination of encorafenib, binimetinib and cetuximab significantly improved overall survival (OS) in patients with BRAF-mutated metastatic colorectal cancer (mCRC), according to results of the BEACON CRC Phase III...

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Triplet-targeted therapy improves survival for patients with advanced colorectal cancer and BRAF mutations

Phase III trial may change standard of care for up to 15% of colorectal cancer patients Credit: MD Anderson Cancer Center BARCELONA — The three-drug combination of encorafenib, binimetinib and...

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Inferring the distribution of fitness effects of spontaneous mutations in <i>Chlamydomonas reinhardtii</i>

by Katharina B. Böndel, Susanne A. Kraemer, Toby Samuels, Deirdre McClean, Josianne Lachapelle, Rob W. Ness, Nick Colegrave, Peter D. Keightley Spontaneous mutations are the source of new genetic variation...

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The Interaction of Genetic Mutations in PARK2 and FA2H Causes a Novel Phenotype in a Case of Childhood-Onset Movement Disorder

Benger, M; Mankad, K; Proukakis, C; Mazarakis, ND; Kinali, M; (2019) The Interaction of Genetic Mutations in PARK2 and FA2H Causes a Novel Phenotype in a Case of Childhood-Onset Movement...

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Rare recessive mutations pry open new windows on autism

Most genetic variants linked to autism are de novo mutations, which are not inherited and are relatively easy to find. A new study, in one of the largest cohorts to...

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Compound heterozygous mutations of SH3TC2 in Charcot–Marie–Tooth disease type 4C patients

Compound heterozygous mutations of SH3TC2 in Charcot–Marie–Tooth disease type 4C patients Source link

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NTHL1 biallelic mutations seldom cause colorectal cancer, serrated polyposis or a multi-tumor phenotype, in absence of colorectal adenomas

NTHL1 biallelic mutations seldom cause colorectal cancer, serrated polyposis or a multi-tumor phenotype, in absence of colorectal adenomas Source link

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Developmental disorders: Discovery of new mutations

In the largest study to date on developmental delay, researchers analyzed genomic data from over 31,000 parent-child trios and found more than 45,000 de novo mutations, and 40 novel genes....

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Structure of Fission Yeast Transcription Factor Pho7 Bound to pho1 Promoter DNA and Effect of Pho7 Mutations on DNA Binding and Phosphate Homeostasis [Research Article]

Pho7 is the Schizosaccharomyces pombe fission yeast Zn2Cys6 transcriptional factor that drives a response to phosphate starvation in which phosphate acquisition genes are upregulated. Here we report a crystal structure...

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Cancer and Crystal Balls; Not-So-Silent Mutations; Men, Women, and Cancer

(MedPage Today) -- News, features, and commentary about cancer-related issues Source link

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Redefining normal: Study shows mutations even in healthy tissues throughout the body

For years, the prevailing wisdom has been that our cells contain genes that are essentially carbon copies of each other. That notion is being dashed by studies painting a different...

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Human body is a mosaic pattern of DNA mutations, say researchers

Researchers have discovered that the cells of the human body aren’t clones of a single DNA sequence, but are actually a mosaic of mutations. Source link

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Hypermorphic SERK1 Mutations Function via a SOBIR1 Pathway to Activate Floral Abscission Signaling

In Arabidopsis (Arabidopsis thaliana), the abscission of floral organs is regulated by two related receptor-like protein kinases, HAESA (HAE) and HAESA-LIKE2 (HSL2). In complex with members of the SOMATIC EMBRYOGENESIS...

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Intraductal Papillary Mucinous Neoplasms Arise from Multiple Independent Clones, Each With Distinct Mutations

Intraductal papillary mucinous neoplasms (IPMNs) are lesions that can progress to invasive pancreatic cancer and an important system for studies of pancreatic tumorigenesis. We performed comprehensive genomic analyses of entire...

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STAT Plus: At ASCO, targeted lung cancer drugs shrink tumors caused by rare genetic mutations

CHICAGO — Precision medicine in lung cancer is making a big impact at this year’s ASCO meeting. Rare mutations in lung tumors discovered through genetic screening are leading to the...

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Deep Learning Detects Mutations Behind Autism Spectrum Disorder

Mutations that lie outside… read more Source link

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