Cargando…

Characterization of SSBP1-related optic atrophy and foveopathy

Dominant optic atrophy (DOA) is genetically heterogeneous and most commonly caused by mutations in OPA1. To distinguish between the classical OPA1-related and the recently identified SSBP1-related DOAs, the retina and fovea of 27 patients carrying the SSBP1 p.Arg38Gln variant were scrutinized using...

Descripción completa

Detalles Bibliográficos
Autores principales:	Meunier, Isabelle, Bocquet, Béatrice, Defoort-Dhellemmes, Sabine, Smirnov, Vasily, Arndt, Carl, Picot, Marie Christine, Dollfus, Hélène, Charif, Majida, Audo, Isabelle, Huguet, Hélèna, Zanlonghi, Xavier, Lenaers, Guy
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Nature Publishing Group UK 2021
Materias:	Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8455542/ https://www.ncbi.nlm.nih.gov/pubmed/34548540 http://dx.doi.org/10.1038/s41598-021-98150-1

Ejemplares similares

Dominant mutations in mtDNA maintenance gene SSBP1 cause optic atrophy and foveopathy
por: Piro-Mégy, Camille, et al.
Publicado: (2019)

A ROD–CONE DYSTROPHY IS SYSTEMATICALLY ASSOCIATED TO THE RTN4IP1 RECESSIVE OPTIC ATROPHY
por: Meunier, Isabelle, et al.
Publicado: (2021)

Retinitis Punctata Albescens and RLBP1-Allied Phenotypes: Phenotype–Genotype Correlation and Natural History in the Aim of Gene Therapy
por: Bocquet, Béatrice, et al.
Publicado: (2021)

CRB1-Related Retinal Dystrophies in a Cohort of 50 Patients: A Reappraisal in the Light of Specific Müller Cell and Photoreceptor CRB1 Isoforms
por: Mairot, Kévin, et al.
Publicado: (2021)

Novel TTLL5 Variants Associated with Cone-Rod Dystrophy and Early-Onset Severe Retinal Dystrophy
por: Smirnov, Vasily, et al.
Publicado: (2021)

Mutations in the m-AAA proteases AFG3L2 and SPG7 are causing isolated dominant optic atrophy
por: Charif, Majida, et al.
Publicado: (2020)

Contribution of Whole-Genome Sequencing and Transcript Analysis to Decipher Retinal Diseases Associated with MFSD8 Variants
por: Poncet, Anaïs F., et al.
Publicado: (2022)

Dietary, environmental, and genetic risk factors of Extensive Macular Atrophy with Pseudodrusen, a severe bilateral macular atrophy of middle-aged patients
por: Douillard, Aymeric, et al.
Publicado: (2018)

Mutational Spectrum, Ocular and Olfactory Phenotypes of CNGB1-Related RP-Olfactory Dysfunction Syndrome in a Multiethnic Cohort
por: Geada, Sara, et al.
Publicado: (2023)

A novel mutation of AFG3L2 might cause dominant optic atrophy in patients with mild intellectual disability
por: Charif, Majida, et al.
Publicado: (2015)

A new autosomal dominant eye and lung syndrome linked to mutations in TIMP3 gene
por: Meunier, Isabelle, et al.
Publicado: (2016)

Next-Generation Sequencing Identifies Novel PMPCA Variants in Patients with Late-Onset Dominant Optic Atrophy
por: Charif, Majida, et al.
Publicado: (2022)

Maternal Mosaicism in SSBP1 Causing Optic Atrophy with Retinal Degeneration: Implications for Genetic Counseling
por: Chang, Yin-Hsi, et al.
Publicado: (2023)

Maternal mosaicism in SSBP1 causing optic atrophy with retinal degeneration: implications for genetic counseling
por: Chang, Yin-Hsi, et al.
Publicado: (2023)

Faut-il une surveillance ophtalmologique en cas de traitement de courte durée par hydroxychloroquine en cette période d’épidémie au COVID-19 ?()
por: Defoort-Dhellemmes, S.
Publicado: (2020)

Hereditary spastic paraplegia and prominent sensorial involvement: think MAG mutations!
por: Roubertie, Agathe, et al.
Publicado: (2019)

Dominant mutations in MIEF1 affect mitochondrial dynamics and cause a singular late onset optic neuropathy
por: Charif, Majida, et al.
Publicado: (2021)

Autosomal recessive Leber hereditary optic neuropathy, a new neuro-ophthalmo-genetic paradigm
por: Lenaers, Guy, et al.
Publicado: (2023)

Dominant ACO2 mutations are a frequent cause of isolated optic atrophy
por: Charif, Majida, et al.
Publicado: (2021)

Clinical and genetic investigations of three Moroccan families with retinitis pigmentosa phenotypes
por: Bouzidi, Aymane, et al.
Publicado: (2021)

Clinical and genetic spectrums of 413 North African families with inherited retinal dystrophies and optic neuropathies
por: Bouzidi, Aymane, et al.
Publicado: (2022)

Whole Locus Sequencing Identifies a Prevalent Founder Deep Intronic RPGRIP1 Pathologic Variant in the French Leber Congenital Amaurosis Cohort
por: Perrault, Isabelle, et al.
Publicado: (2021)

SSBP1 Upregulation In Colorectal Cancer Regulates Mitochondrial Mass
por: Yang, Yongping, et al.
Publicado: (2019)

AON-Mediated Exon Skipping to Bypass Protein Truncation in Retinal Dystrophies Due to the Recurrent CEP290 c.4723A > T Mutation. Fact or Fiction?
por: Barny, Iris, et al.
Publicado: (2019)

Recessive TBC1D24 Mutations Are Frequent in Moroccan Non-Syndromic Hearing Loss Pedigrees
por: Bakhchane, Amina, et al.
Publicado: (2015)

SSBP2 is an in vivo tumor suppressor and regulator of LDB1 stability
por: Wang, Yang, et al.
Publicado: (2010)

Xenopus Ssbp2 is required for embryonic pronephros morphogenesis and terminal differentiation
por: Cervino, Ailen S., et al.
Publicado: (2023)

Genome Editing as a Treatment for the Most Prevalent Causative Genes of Autosomal Dominant Retinitis Pigmentosa
por: Diakatou, Michalitsa, et al.
Publicado: (2019)

Novel compound heterozygous MYO7A mutations in Moroccan families with autosomal recessive non-syndromic hearing loss
por: Bakhchane, Amina, et al.
Publicado: (2017)

Nuclear Expression Loss of SSBP2 Is Associated with Poor Prognostic Factors in Colorectal Adenocarcinoma
por: Chung, Yumin, et al.
Publicado: (2020)

The SSBP3 Co-Regulator Is a Novel Driver of Islet Cell Structure and Function
por: Toren, Eliana, et al.
Publicado: (2021)

A Rare Case of Didanosine-Induced Mid-Peripheral Chorioretinal Atrophy Identified Incidentally 11 Years after the Drug Cessation
por: Joharjy, Heba, et al.
Publicado: (2022)

Genetic and molecular analysis of the CLDN14 gene in Moroccan family with non-syndromic hearing loss
por: Charif, Majida, et al.
Publicado: (2013)

Bioinformatics Tools and Databases to Assess the Pathogenicity of Mitochondrial DNA Variants in the Field of Next Generation Sequencing
por: Bris, Céline, et al.
Publicado: (2018)

Mutational analysis of the RB1 gene in Moroccan patients with retinoblastoma
por: Abidi, Omar, et al.
Publicado: (2011)

Xylanase Superproducer: Genome Sequence of a Compost-Loving Thermophilic Fungus, Thermomyces lanuginosus Strain SSBP
por: Mchunu, Nokuthula Peace, et al.
Publicado: (2013)

De Novo Development of mtDNA Deletion Due to Decreased POLG and SSBP1 Expression in Humans
por: Lee, Yeonmi, et al.
Publicado: (2021)

Structural basis of the interaction between BCL9-Pygo and LDB-SSBP complexes in assembling the Wnt enhanceosome
por: Wang, Hongyang, et al.
Publicado: (2023)

The SSBP3 co-regulator is required for glucose homeostasis, pancreatic islet architecture, and beta-cell identity
por: Toren, Eliana, et al.
Publicado: (2023)

Use of Next-Generation Sequencing for the Molecular Diagnosis of 1,102 Patients With a Autosomal Optic Neuropathy
por: Charif, Majida, et al.
Publicado: (2021)

Cannot write session to /tmp/vufind_sessions/sess_7vcsj09g5ktc00hfo1qt7qkue3