Publication

Joint mouse-human phenome-wide association to test gene function and disease risk

Related publications (49)

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

From polymers to gene regulation

Aleksandre Japaridze

DNA molecule is the fundamental component of every living organism, since it encodes the hereditary information. Although the genetic code of almost 200 species has been sequenced, the direct connection between gene sequence, DNA structure and biological f ...

EPFL2015

The H50Q Mutation Enhances alpha-Synuclein Aggregation, Secretion, and Toxicity

Giovanni Dietler, Hilal Lashuel, Anne-Laure Mahul Mellier, Bruno Claude Daniel Fauvet, Francesco Simone Ruggeri, Abid Oueslati, Martial Mbefo Kamdem, Ossama Mohamed Salah El-Dien El-Sayed Ibrahim Khalaf, Filip Vercruysse

Over the last two decades, the identification of missense mutations in the alpha-synuclein (alpha-Syn) gene SNCA in families with inherited Parkinson disease (PD) has reinforced the central role of alpha-Syn in PD pathogenesis. Recently, a new missense mut ...

American Society for Biochemistry and Molecular Biology2014

A missense mutation in the PISA domain of HsSAS-6 causes autosomal recessive primary microcephaly in a large consanguineous Pakistani family

Pierre Gönczy

Asymmetric cell division is essential for normal human brain development. Mutations in several genes encoding centrosomal proteins that participate in accurate cell division have been reported to cause autosomal recessive primary microcephaly (MCPH). By ho ...

Oxford Univ Press2014

Natural variation in genome architecture among 205 Drosophila melanogaster Genetic Reference Panel lines

Bart Deplancke, Andreas Massouras, Sandy Lee, Yi Han, Yiming Zhu

The Drosophila melanogaster Genetic Reference Panel (DGRP) is a community resource of 205 sequenced inbred lines, derived to improve our understanding of the effects of naturally occurring genetic variation on molecular and organismal phenotypes. We used a ...

Cold Spring Harbor Laboratory Press2014

The influence of genomic context on mutation patterns in the human genome inferred from rare variants

Jian Li

Understanding patterns of spontaneous mutations is of fundamental interest in studies of human genome evolution and genetic disease. Here, we used extremely rare variants in humans to model the molecular spectrum of single-nucleotide mutations. Compared to ...

Cold Spring Harbor Lab Press, Publications Dept2013

ALDH1A3 loss of function causes bilateral anophthalmia/microphthalmia and hypoplasia of the optic nerve and optic chiasm

The major active retinoid, all-trans retinoic acid, has long been recognized as critical for the development of several organs, including the eye. Mutations in STRA6, the gene encoding the cellular receptor for vitamin A, in patients with MatthewWood syndr ...

Oxford University Press2013

Shifting Fitness Landscapes In Response To Altered Environments

Jeffrey David Jensen, Claudia Bank

The role of adaptation in molecular evolution has been contentious for decades. Here, we shed light on the adaptive potential in Saccharomyces cerevisiae by presenting systematic fitness measurements for all possible point mutations in a region of Hsp90 un ...

Wiley-Blackwell2013

In-depth analysis of hyaline fibromatosis syndrome frameshift mutations at the same site reveal the necessity of personalized therapy

Françoise Gisou van der Goot Grunberg, Matteo Dal Peraro, Thomas Lemmin, Suzanne Salvi, Shixu Yan

Hyaline fibromatosis syndrome is an autosomal recessive disease caused by mutations in ANTXR2, a gene involved in extracellular matrix homeostasis. Sixty percent of patients carry frameshift mutations at a mutational hotspot in exon 13. We show in patient ...

Wiley-Blackwell2013

A sequence-dependent rigid-base model of DNA

John Maddocks, Daiva Petkeviciute

A novel hierarchy of coarse-grain, sequence-dependent, rigid-base models of B-form DNA in solution is introduced. The hierarchy depends on both the assumed range of energetic couplings, and the extent of sequence dependence of the model parameters. A signi ...

Amer Inst Physics2013

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