Concept

Mutation rate

Related publications (165)

Clinical and genetic investigation of a large Tunisian family with complete achromatopsia: identification of a new nonsense mutation in GNAT2 gene

Complete achromatopsia is a rare autosomal recessive disease associated with CNGA3, CNGB3, GNAT2 and PDE6C mutations. This retinal disorder is characterized by complete loss of color discrimination due to the absence or alteration of the cones function. Th ...

2011

Hyaline Fibromatosis Syndrome inducing mutations in the ectodomain of anthrax toxin receptor 2 can be rescued by proteasome inhibitors

Françoise Gisou van der Goot Grunberg, Laurence Gouzi Abrami, Nicolas Jean Philippe Guex, Julie Deuquet Ariosa, Suzanne Salvi

Hyaline Fibromatosis Syndrome (HIS) is a human genetic disease caused by mutations in the anthrax toxin receptor 2 (or cmg2) gene, which encodes a membrane protein thought to be involved in the homeostasis of the extracellular matrix. Little is known about ...

Wiley Open Access2011

Two mutations in human BICC1 resulting in Wnt pathway hyperactivity associated with cystic renal dysplasia

Daniel Constam, Marine Marie Kraus, Anne Grapin-Botton

Bicaudal C homologue 1 (Bicc1) knockout in mice causes polycystic kidney disease and pancreas development defects, including a reduction in insulin-producing β-cells and ensuing diabetes. We therefore screened 137 patients with renal abnormalities or assoc ...

2011

Identification of serine 245 as a novel determinant of the transcriptional regulatory activity of the CREB coactivator CRTC1

Elena Katsyuba

Activity-dependent changes in gene expression are implicated in the pathogenesis of Huntington's disease (Gambazzi et al., 2010; Spektor et al., 2002; Luthi-Carter et al., 2000). One of the most important facets of transcriptional dysfunction in HD appears ...

2011

Spontaneous phthiocerol dimycocerosate-deficient variants of Mycobacterium tuberculosis are susceptible to gamma interferon-mediated immunity

John McKinney, Swapna Uplekar, Anna De Graff Tischler

Onset of the adaptive immune response in mice infected with Mycobacterium tuberculosis is accompanied by slowing of bacterial replication and establishment of a chronic infection. Stabilization of bacterial numbers during the chronic phase of infection is ...

2011

Dopaminergic Neuronal Loss, Reduced Neurite Complexity and Autophagic Abnormalities in Transgenic Mice Expressing G2019S Mutant LRRK2

Liliane Glauser, Darren Moore, Klodjan Stafa, Ying Liu, David Ramonet Jimenez

Mutations in the leucine-rich repeat kinase 2 (LRRK2) gene cause late-onset, autosomal dominant familial Parkinson's disease (PD) and also contribute to idiopathic PD. LRRK2 mutations represent the most common cause of PD with clinical and neurochemical fe ...

Public Library of Science2011

Asymmetric Multilevel Diversity Coding and Asymmetric Gaussian Multiple Descriptions

Suhas Diggavi

We consider the asymmetric multilevel diversity (A-MLD) coding problem, where a set of 2(K) - 1 information sources, ordered in a decreasing level of importance, is encoded into K messages (or descriptions). There are 2(K) - 1 decoders, each of which has a ...

2010

Mycobacterium tuberculosis persistence mutants identified by screening in isoniazid-treated mice

John McKinney, Neeraj Dhar

Tuberculosis (TB) is notoriously difficult to cure, requiring administration of multiple antibiotics for 6 mo or longer. Conventional anti-TB drugs inhibit biosynthetic processes involved in cell growth and division, such as DNA replication, RNA transcript ...

2010

BCR-ABL SH3-SH2 domain mutations in chronic myeloid leukemia patients on imatinib

Oliver Hantschel

Point mutations in the kinase domain of BCR-ABL are the most common mechanism of drug resistance in chronic myeloid leukemia (CML) patients treated with ABL kinase inhibitors, including imatinib. It has also been shown in vitro that mutations outside the k ...

2010

A comprehensive target selectivity survey of the BCR-ABL kinase inhibitor INNO-406 by kinase profiling and chemical proteomics in chronic myeloid leukemia cells

Oliver Hantschel

Resistance to the BCR-ABL tyrosine kinase inhibitor imatinib poses a pressing challenge in treating chronic myeloid leukemia (CML). This resistance is often caused by point mutations in the ABL kinase domain or by overexpression of LYN. The second-generati ...

Nature Publishing Group2010

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