Publications related to A novel homozygous R764H mutation in crumbs homolog 1 causes autosomal recessive retinitis pigmentosa

Related publications (31)

Neuroprotection in the Retina: From Preventing Inflammatory Cell Death to Promoting Vascular Stability in the Central Nervous System

Glaucoma is one of the leading causes of irreversible blindness worldwide. Glaucoma is defined clinically as the presence of optic nerve head (ONH) degeneration and progressive loss of retinal ganglion cells (RGCs). Intra-ocular pressure (IOP) has been con ...

EPFL2024

Toward universal cell embeddings: integrating single-cell RNA-seq datasets across species with SATURN

Maria Brbic

Analysis of single-cell datasets generated from diverse organisms offers unprecedented opportunities to unravel fundamental evolutionary processes of conservation and diversification of cell types. However, interspecies genomic differences limit the joint ...

Nature Publishing Group2024

Evaluating contrast sensitivity in early and intermediate age-related Macular Degeneration with the Quick Contrast Sensitivity Function

Michael Herzog, Simona Adele Garobbio

Purpose: The purpose of this study was to describe, validate, and compare the contrast sensitivity functions (CSFs) acquired with the novel quick CSF (qCSF) method from patients with early and intermediate age-related macular degeneration (eAMD and iAMD) a ...

2023

The THO complex counteracts TERRA R-loop-mediated telomere fragility in telomerase(+) cells and telomeric recombination in ALT(+) cells

Joachim Lingner, Rita Valador Fernandes

Telomeres are the nucleoprotein structures at the ends of linear chromosomes. Telomeres are transcribed into long non-coding Telomeric Repeat-Containing RNA (TERRA), whose functions rely on its ability to associate with telomeric chromatin. The conserved T ...

OXFORD UNIV PRESS2023

Whole-genome doubling drives oncogenic loss of chromatin segregation

Juan Diaz Miyar, Elisa Oricchio, Natalya Katanayeva, Daniele Tavernari, Ruxandra-Andreea Lambuta

Whole-genome doubling (WGD) is a recurrent event in human cancers and it promotes chromosomal instability and acquisition of aneuploidies(1-8). However, the three-dimensional organization of chromatin in WGD cells and its contribution to oncogenic phenotyp ...

NATURE PORTFOLIO2023

Epigenome-wide DNA methylation in externalizing behaviours: A review and combined analysis

Maria del Carmen Sandi Perez

DNA methylation (DNAm) is one of the most frequently studied epigenetic mechanisms facilitating the interplay of genomic and environmental factors, which can contribute to externalizing behaviours and related psychiatric disorders. Previous epigenome-wide ...

PERGAMON-ELSEVIER SCIENCE LTD2023

Wide-scale identification of novel/eliminated genes responsible for evolutionary transformations

Daria Korotkova

BackgroundIt is generally accepted that most evolutionary transformations at the phenotype level are associated either with rearrangements of genomic regulatory elements, which control the activity of gene networks, or with changes in the amino acid conten ...

2023

Influence of macular pigment on the sensitivity to discomfort glare from daylight

Marilyne Andersen, Jan Wienold, Sneha Jain

Understanding the factors that influence the human perception of glare is necessary to properly address glare risks in buildings and achieve comfortable visual environments, especially in the workplace. Yet large inter-individual variabilities in glare per ...

Nature Research2023

Identifying genetic and dietary modulators of metabolic disorders using systems genetics

Xiaoxu Li

Long-term consumption of lipid-rich foods can contribute to common metabolic diseases and systemic low-grade inflammation. However, dietary responses and the development of non-communicable diseases are shaped by genetic factors and gene-by-environment int ...

EPFL2023

Saliency prediction in 360° architectural scenes: Performance and impact of daylight variations

Marilyne Andersen, Sabine Süsstrunk, Caroline Karmann, Kynthia Chamilothori, Seungryong Kim, Bahar Aydemir

Saliency models are image-based prediction models that estimate human visual attention. Such models, when applied to architectural spaces, could pave the way for design decisions where visual attention is taken into account. In this study, we tested the pe ...

2023

In Vivo Retinal Pigment Epithelium Imaging using Transscleral Optical Imaging in Healthy Eyes

Christophe Moser, Timothé Laforest, Laura Emmanuelle Kowalczuk, Mathieu Künzi, Rémy Jean Daniel Dornier

Objective: To image healthy retinal pigment epithelial (RPE) cells in vivo using Transscleral OPtical Imaging (TOPI) and to analyze statistics of RPE cell features as a function of age, axial length (AL), and eccentricity. Design: Single-center, explorator ...

ELSEVIER2022

POLYRETINA restores light responses in vivo in blind Gottingen minipigs

Golnaz Sherafatipour, Diego Ghezzi, Marta Jole Ildelfonsa Airaghi Leccardi, Paola Vagni, Elodie Geneviève Zollinger, Charles-Henri Puncho Jérôme Vila

Retinal prostheses hold potential for artificial vision in blind people. Here, authors show that POLYRETINA, a large and high-density photovoltaic epiretinal device, restores light-evoked cortical responses in blind Gottingen minipigs at safe irradiance le ...

Nature Portfolio2022

Integrative transcriptome analyses of Transposable Elements (TEs) and genes contribute to a better understanding of colorectal cancer

Eunji Shin

Cancer is the second leading cause of death worldwide. Cancer develops through multiple hallmark functions including apoptosis evasion, unlimited replicative potential, metastasis, and immune avoidance. Over the past few decades, researchers have reported ...

EPFL2022

OCT-angiography assessing quiescent and active choroidal neovascularization in retinitis pigmentosa associated with PRPH2 pathogenic variant

Daniel Francis Schorderet

Purpose: To report multimodal imaging findings including optical coherence tomography angiography (OCT-A) of a patient presenting with a quiescent choroidal neovascularization (CNV) in one eye and an active CNV in the fellow eye, complicating retinitis pig ...

2021

Photovoltaic stimulation of retinal microcircuit for vision restoration

Naïg Aurelia Ludmilla Chenais

Sight restoration through retinal prostheses was still a mere dream a century ago. Current challenges are even greater: providing a quantitatively and qualitatively useful artificial vision to late blind patients. Existing approaches all face engineering a ...

EPFL2021

About common factors in vision

Michael Herzog, Maya Roinishvili, Lukasz Grzeczkowski, Ophélie Gladys Favrod, Aline Françoise Cretenoud, Janir Nuno Ramos Antunes Da Cruz, Simona Adele Garobbio, Dario Alejandro Gordillo Lopez

Often, we intuitively assume that there are common factors in life. For example, we test people with a visual acuity test to determine whether they are allowed to drive a car or not- with the implicit assumption that the acuity test is representative of vi ...

SAGE Publishing2021

Multi-modal retinal imaging platform

Christophe Moser, Timothé Laforest, Mathieu Künzi

The invention relates to oblique transscleral illumination of an eye fundus with at least one physical point light source around the eye allowing for dark field imaging combined with optical coherence tomography imaging. ...

2021

Variants in USP48 encoding ubiquitin hydrolase are associated with autosomal dominant non-syndromic hereditary hearing loss

Nicolas Jean Philippe Guex

Non-Syndromic Hereditary Hearing Loss (NSHHL) is a genetically heterogeneous sensory disorder with about 120 genes already associated. Through exome sequencing (ES) and data aggregation, we identified a family with six affected individuals and one unrelate ...

Oxford University Press2021

The genetic architecture of complex human traits at the dawn of genomic medicine

Olivier Noël Marie Naret

The focus of the work presented in this thesis is the exploration of the genetic architecture of complex human traits - at the dawn of genomic medicine. The underlying mechanisms explaining the enormously polygenic nature of most human complex traits are ...

EPFL2021

Toward a mechanistic understanding of variable chromatin modules

Gerard Llimos Aubach

Our genome is a long sequence of DNA that contains all the information to be able to constitute a living organism like us, similarly to what the letters in a book do to create a story. This sequence, which is a stretch of molecules called nucleotides, is a ...

EPFL2021