Concept

Frameshift mutation

Related publications (214)

Enhanced Rate of Acquisition of Point Mutations in Mouse Intestinal Adenomas Compared to Normal Tissue

The most prevalent single-nucleotide substitution (SNS) found in cancers is a C-to-T substitution in the CpG motif. It has been proposed that many of these SNSs arise during organismal aging, prior to transformation of a normal cell into a precancerous/can ...

2017

A homozygous missense mutation in ERAL1, encoding a mitochondrial rRNA chaperone, causes Perrault syndrome

Johan Auwerx, Laurent Mouchiroud, Richardus Houtkooper

Perrault syndrome (PS) is a rare recessive disorder characterized by ovarian dysgenesis and sensorineural deafness. It is clinically and genetically heterogeneous, and previously mutations have been described in different genes, mostly related to mitochond ...

Oxford Univ Press2017

Mapping mitochondrial heteroplasmy in a Leydig tumor by laser capture microdissection and cycling temperature capillary electrophoresis

Stephan Morgenthaler, Paul Refinetti, Per Olaf Ekstrom

Background: The growth of tumor cells is accompanied by mutations in nuclear and mitochondrial genomes creating marked genetic heterogeneity. Tumors also contain non-tumor cells of various origins. An observed somatic mitochondrial mutation would have occu ...

BioMed Central2017

LRSAM1-mediated ubiquitylation is disrupted in axonal Charcot-Marie-Tooth disease 2P

Vincenzo Sorrentino

Charcot-Marie-Tooth (CMT) disease type 2 is a genetically heterogeneous group of inherited neuropathies characterized by motor and sensory deficits as a result of peripheral axonal degeneration. We recently reported a frameshift (FS) mutation in the Really ...

Oxford Univ Press2017

CRISPR-Cas9-mediated saturated mutagenesis screen predicts clinical drug resistance with improved accuracy

Jeffrey David Jensen, Sebastian Matuszewski

Developing tools to accurately predict the clinical prevalence of drug-resistant mutations is a key step toward generating more effective therapeutics. Here we describe a high-throughput CRISPR-Cas9-based saturated mutagenesis approach to generate comprehe ...

Natl Acad Sciences2017

Is detection of intraperitoneal exfoliated tumor cells after surgical resection of rectal cancer a prognostic factor of survival?

Paul Refinetti, Per Olaf Ekstrom

Background: The prognostic significance of free cancer cells detected in peritoneal fluid at the time of rectal surgery remains unclear. A substantial number of patients will develop metastatic disease even with successful local treatment. This prospective ...

2017

Cell lineage tracing in human tissues using somatic mitochondrial mutations

Paul Refinetti

Lineage tracing is a basic concept in developmental biology, as well as diseases related to organ development. A reliable method to track cell lineages in human tissues has the potential to greatly contribute to the fields of oncogenesis, tissue renewal, a ...

EPFL2017

Genotypic, phenotypic and mechanistic insights into viruses with resistance to common water disinfectants

Qingxia Zhong

Infectious diseases caused by waterborne viruses contribute to the global disease burden. An effective barrier to prevent the discharge of waterborne viruses is a disinfection step, yet disinfection is not always efficient at inactivating viruses. This the ...

EPFL2017

CMG2/ANTXR2 regulates extracellular collagen VI which accumulates in hyaline fibromatosis syndrome

Françoise Gisou van der Goot Grunberg, Laurence Gouzi Abrami, Béatrice Kunz, Alessandra Piersigilli, Julie Deuquet Ariosa, Jérôme Bürgi

Loss-of-function mutations in capillary morphogenesis gene 2 (CMG2/ANTXR2), a transmembrane surface protein, cause hyaline fibromatosis syndrome (HFS), a severe genetic disorder that is characterized by large subcutaneous nodules, gingival hypertrophy and ...

Springer Nature2017

Polyglutamine expansion affects huntingtin conformation in multiple Huntington’s disease models

Hilal Lashuel, Lara Petricca, Sean Michael Deguire

Conformational changes in disease-associated or mutant proteins represent a key pathological aspect of Huntington's disease (HD) and other protein misfolding diseases. Using immunoassays and biophysical approaches, we and others have recently reported that ...

Springer Nature2017

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