28 results for "Mathieu Quinodoz"

GNB1-Related Rod-Cone Dystrophy: A Case Report

Giovanni Marco Conti; Francesca Cancellieri; Mathieu Quinodoz et al.

Case Reports in Ophthalmology, Vol. 15 No. 1 · 2024 · English · DOAJ Scopus

Introduction: The GNB1 (guanine nucleotide-binding protein, β1) gene encodes for the ubiquitous β1 subunit of heterotrimeric G proteins, which are associated with G-protein-coupled receptors (GPCRs). GNB1 mutations cause a neurodevelopmental disorder characterized by a broad clinical spectrum. A…

Phenotypic Divergence in C19ORF44-Associated Retinal Degeneration despite an Identical Genotype: A Case Report

Lucas Yan Bin Ng; Mathieu Quinodoz; Tien-En Tan et al.

Case Reports in Ophthalmology, Vol. 17 No. 1 · 2026 · English · DOAJ Scopus

Introduction: C19ORF44 has recently been identified as a gene associated with autosomal recessive inherited retinal disease (IRD). The function of the gene remains poorly understood, and a previously reported case with identical primary genotype demonstrated a Stargardt-like macular dystrophy…

Bisretinoids as a Source of Early Photoreceptor Pathology in Stargardt Disease

Nathan L. Mata; Stephanie Weng; Michel Michaelides et al.

Ophthalmic Research, Vol. 68 No. 1 · 2025 · English · DOAJ Scopus

Background: Stargardt disease (STGD1) due to biallelic mutations in the ABCA4 gene is the most frequent single-gene retinal disease with a genetic prevalence of about 1 in 7,000. Pathology in STGD1 is due to dysfunction of a retina-specific vitamin A transporter which causes accumulation of…

Management of Full-Thickness Macular Hole in A Genetically Confirmed Case with Usher Syndrome

Evangelia S. Panagiotou; Thomas Papathomas; Konstantinos Nikopoulos et al.

Ophthalmology and Therapy, Vol. 9 No. 3 · 2020 · English · DOAJ Scopus

Abstract Introduction Full-thickness macular hole (FTMH) formation is rarely seen in patients with retinitis pigmentosa (RP) and can have an adverse impact on their residual visual function. The underlying mechanisms are unknown, and clinical experience is limited regarding surgical outcomes. Here…

Generation of a Double Reporter mES Cell Line to Simultaneously Trace the Generation of Retinal Progenitors and Photoreceptors

Oleksandr Zabiegalov; Adeline Berger; Dhryata Kamdar et al.

Cells, Vol. 14 No. 4 · 2025 · English · DOAJ Scopus

Three-dimensional retinal culture systems help to understand eye development and the pathology of disorders. There is a need for reporter stem cell lines to allow in vitro studies on retinal progenitors and photoreceptors and their developmental dynamics or properties and to test therapeutic…

Childhood neurodegeneration associated with a specific UBTF variant: a new case report and review of the literature

Filipa Bastos; Mathieu Quinodoz; Marie-Claude Addor et al.

BMC Neurology, Vol. 20 No. 1 · 2020 · English · DOAJ Scopus

Abstract Background A new monogenic neurodegenerative disease affecting ribosomal metabolism has recently been identified in association with a monoallelic UBTF putative gain of function variant (NM_001076683.1:c.628G>A, hg19). Phenotype is consistent among these probands with progressive motor…

Early-onset macular drusen, a monogenic form of age-related macular degeneration

Lisa M. George; Mathur Ranjana; Mathieu Quinodoz et al.

American Journal of Ophthalmology Case Reports, Vol. 39 · 2025 · English · DOAJ Scopus

Reciprocal modulation of mesenchymal stem cells and tumor cells promotes lung cancer metastasis

Giulia Fregni; Mathieu Quinodoz; Emely Möller et al.

EBioMedicine, Vol. 29 · 2018 · English · DOAJ Scopus

Metastasis is a multi-step process in which direct crosstalk between cancer cells and their microenvironment plays a key role. Here, we assessed the effect of paired tumor-associated and normal lung tissue mesenchymal stem cells (MSCs) on the growth and dissemination of primary human lung carcinoma…

Systematic functional evaluation of CNGA1 missense variants associated with retinitis pigmentosa

Peggy Reuter; Jennifer Schroeder; Marc Sturm et al.

Molecular Medicine, Vol. 32 No. 1 · 2026 · English · DOAJ Scopus

Abstract Background Missense variants are frequently classified as variants of uncertain significance (VUS) according to the guidelines of the American College of Medical Genetics and Genomics and the Association of Molecular Pathology (ACMG/AMP). Consequently, disease relevance remains elusive…

Herpes simplex encephalitis in adult patients with MASP-2 deficiency

Stéphanie Bibert; Jocelyne Piret; Mathieu Quinodoz et al.

PLOS Pathogens, Vol. 15 No. 12 · 2019 · English · PLOS Scopus

We report here two cases of Herpes simplex virus encephalitis (HSE) in adult patients with very rare, previously uncharacterized, non synonymous heterozygous G634R and R203W substitution in mannan-binding lectin serine protease 2 (MASP2), a gene encoding a key protease of the lectin pathway of the…

Also available at: DOAJ

De novo variants in LRRC8C resulting in constitutive channel activation cause a human multisystem disorder

Mathieu Quinodoz; Sonja Rutz; Virginie Peter et al.

The EMBO Journal, Vol. 44 No. 2 · 2024 · English · DOAJ Scopus

Abstract Volume-regulated anion channels (VRACs) are multimeric proteins composed of different paralogs of the LRRC8 family. They are activated in response to hypotonic swelling, but little is known about their specific functions. We studied two human individuals with the same congenital syndrome…

Identification of new families and variants in autosomal dominant macular dystrophy associated with THRB

Lidia Fernández-Caballero; Fiona Blanco-Kelly; Saoud Tahsin Swafiri et al.

Scientific Reports, Vol. 15 No. 1 · 2025 · English · DOAJ Scopus

Abstract THRB encodes thyroid hormone receptor β which produces two human isoforms (TRβ1 and TRβ2) by alternative splicing. The first THRB variant associated with autosomal dominant macular dystrophy (ADMD), NM_001354712.2:c.283 + 1G > A, was recently described. This study aims to refine the…

Transcriptomic Signature Differences Between SARS-CoV-2 and Influenza Virus Infected Patients

Stéphanie Bibert; Nicolas Guex; Joao Lourenco et al.

Frontiers in Immunology, Vol. 12 · 2021 · English · DOAJ Scopus

The reason why most individuals with COVID-19 have relatively limited symptoms while other develop respiratory distress with life-threatening complications remains unknown. Increasing evidence suggests that COVID-19 associated adverse outcomes mainly rely on dysregulated immunity. Here, we compared…

Whole exome sequencing in 17 consanguineous Iranian pedigrees expands the mutational spectrum of inherited retinal dystrophies

Atta Ur Rehman; Neda Sepahi; Nicola Bedoni et al.

Scientific Reports, Vol. 11 No. 1 · 2021 · English · DOAJ Scopus

Abstract Inherited retinal dystrophies (IRDs) constitute one of the most heterogeneous groups of Mendelian human disorders. Using autozygome-guided next-generation sequencing methods in 17 consanguineous pedigrees of Iranian descent with isolated or syndromic IRD, we identified 17 distinct genomic…

Mutations in ARL2BP, a protein required for ciliary microtubule structure, cause syndromic male infertility in humans and mice

Abigail R. Moye; Nicola Bedoni; Jessica G. Cunningham et al.

PLOS Genetics, Vol. 15 No. 8 · 2019 · English · PLOS Scopus

Cilia are evolutionarily conserved hair-like structures with a wide spectrum of key biological roles, and their dysfunction has been linked to a growing class of genetic disorders, known collectively as ciliopathies. Many strides have been made towards deciphering the molecular causes for these…

Also available at: DOAJ

AutoMap is a high performance homozygosity mapping tool using next-generation sequencing data

Mathieu Quinodoz; Virginie G. Peter; Nicola Bedoni et al.

Nature Communications, Vol. 12 No. 1 · 2021 · English · DOAJ Scopus

Homozygosity mapping is a useful tool for identifying candidate mutations in recessive conditions, however application to next generation sequencing data has been sub-optimal. Here, the authors present AutoMap, which efficiently identifies runs of homozygosity in whole exome/genome sequencing data.

CEP78 functions downstream of CEP350 to control biogenesis of primary cilia by negatively regulating CP110 levels

André Brás Gonçalves; Sarah Kirstine Hasselbalch; Beinta Biskopstø Joensen et al.

eLife, Vol. 10 · 2021 · English · DOAJ

CEP78 is a centrosomal protein implicated in ciliogenesis and ciliary length control, and mutations in the CEP78 gene cause retinal cone-rod dystrophy associated with hearing loss. However, the mechanism by which CEP78 affects cilia formation is unknown. Based on a recently discovered…

A comprehensive genetic landscape of inherited retinal diseases in a large Pakistani cohort

Mukhtar Ullah; Atta Ur Rehman; Mathieu Quinodoz et al.

npj Genomic Medicine, Vol. 10 No. 1 · 2025 · English · DOAJ Scopus

Abstract Inherited retinal diseases (IRDs) are a group of rare Mendelian disorders that often result in progressive vision loss and potentially to complete blindness at the end stage. In this study, we investigated a large cohort of patients with IRDs from Pakistan, the world’s fifth most populous…