Publications related to Mutation

Tmc gene therapy restores auditory function in deaf mice

Patrick Aebischer, Bernard Schneider, Cylia Cloé Rochat

Genetic hearing loss accounts for up to 50% of prelingual deafness worldwide, yet there are no biologic treatments currently available. To investigate gene therapy as a potential biologic strategy for restoration of auditory function in patients with genet ...

American Association for the Advancement of Science2015

Abrogation of HMX1 Function Causes Rare Oculoauricular Syndrome Associated With Congenital Cataract, Anterior Segment Dysgenesis, and Retinal Dystrophy

PURPOSE. To define the phenotypic manifestation, confirm the genetic basis, and delineate the pathogenic mechanisms underlying an oculoauricular syndrome (OAS). METHODS. Two individuals from a consanguineous family underwent comprehensive clinical phenotyp ...

Assoc Research Vision Ophthalmology Inc2015

How Structural and Physicochemical Determinants Shape Sequence Constraints in a Functional Enzyme

Matteo Dal Peraro, Luciano Andres Abriata

The need for interfacing structural biology and biophysics to molecular evolution is being increasingly recognized. One part of the big problem is to understand how physics and chemistry shape the sequence space available to functional proteins, while sati ...

Public Library Science2015

Tgfbi/Bigh3 silencing activates ERK in mouse retina

BIGH3 is a secreted protein, part of the extracellular matrix where it interacts with collagen and integrins on the cell surface. BIGH3 can play opposing roles in cancer, acting as either tumor suppressor or promoter, and its mutations lead to different fo ...

Academic Press Ltd- Elsevier Science Ltd2015

Construction of pDYN6902, a new Streptomyces integrative expression vector designed for cloning sequences interfering with Escherichia coli viability

Julien Hiblot, Pierre Leblond

We describe here the construction of a new version of the Escherichia coli-Streptomyces shuttle cloning vector pIJ6902, which carries the original thiostrepton-inducible PtipA as well as the integrative and cloning systems, but with the E. coil low copy nu ...

Academic Press Inc Elsevier Science2015

Drosophila innate immunity: regional and functional specialization of prophenoloxidases

Bruno Lemaitre, Jan Paul Dudzic

The diversification of immune systems during evolution involves the expansion of particular gene families in given phyla. A better understanding of the metazoan immune system requires an analysis of the logic underlying such immune gene amplification. This ...

BioMed Central2015

Characterizing neutral genomic diversity and selection signatures in indigenous populations of Moroccan goats (Capra hircus) using WGS data

Stéphane Joost, Sylvie Stucki, Kevin Leempoel, Pierre Taberlet

Since the time of their domestication, goats (Capra hircus) have evolved in a large variety of locally adapted populations in response to different human and environmental pressures. In the present era, many indigenous populations are threatened with extin ...

2015

Positive Selection Drives Preferred Segment Combinations during Influenza Virus Reassortment

Jeffrey David Jensen, Matthieu Foll

Influenza A virus (IAV) has a segmented genome that allows for the exchange of genome segments between different strains. This reassortment accelerates evolution by breaking linkage, helping IAV cross species barriers to potentially create highly virulent ...

Oxford University Press2015

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Mutation

Tmc gene therapy restores auditory function in deaf mice

Bicaudal C1 promotes pancreatic NEUROG3+ endocrine progenitor differentiation and ductal morphogenesis

Abrogation of HMX1 Function Causes Rare Oculoauricular Syndrome Associated With Congenital Cataract, Anterior Segment Dysgenesis, and Retinal Dystrophy

How Structural and Physicochemical Determinants Shape Sequence Constraints in a Functional Enzyme

Tgfbi/Bigh3 silencing activates ERK in mouse retina

Construction of pDYN6902, a new Streptomyces integrative expression vector designed for cloning sequences interfering with Escherichia coli viability

Dysregulated miRNA biogenesis downstream of cellular stress and ALS-causing mutations: a new mechanism for ALS

Drosophila innate immunity: regional and functional specialization of prophenoloxidases

Characterizing neutral genomic diversity and selection signatures in indigenous populations of Moroccan goats (Capra hircus) using WGS data

Positive Selection Drives Preferred Segment Combinations during Influenza Virus Reassortment

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Chat with Graph Search

Drosophila innate immunity: regional and functional specialization of prophenoloxidases

Dysregulated miRNA biogenesis downstream of cellular stress and ALS-causing mutations: a new mechanism for ALS

Characterizing neutral genomic diversity and selection signatures in indigenous populations of Moroccan goats (Capra hircus) using WGS data

Abrogation of HMX1 Function Causes Rare Oculoauricular Syndrome Associated With Congenital Cataract, Anterior Segment Dysgenesis, and Retinal Dystrophy

Bicaudal C1 promotes pancreatic NEUROG3+ endocrine progenitor differentiation and ductal morphogenesis

How Structural and Physicochemical Determinants Shape Sequence Constraints in a Functional Enzyme

Tgfbi/Bigh3 silencing activates ERK in mouse retina

Tmc gene therapy restores auditory function in deaf mice

Construction of pDYN6902, a new Streptomyces integrative expression vector designed for cloning sequences interfering with Escherichia coli viability

Positive Selection Drives Preferred Segment Combinations during Influenza Virus Reassortment