Cargando…

Maternal Mosaicism in SSBP1 Causing Optic Atrophy with Retinal Degeneration: Implications for Genetic Counseling

Mostrar otras versiones (1)

BACKGROUND: Optic atrophy-13 with retinal and foveal abnormalities (OPA13) (MIM #165510) is a mitochondrial disease in which apparent bilateral optic atrophy is present and sometimes followed by retinal pigmentary changes or photoreceptors degeneration. OPA13 is caused by heterozygous mutation in th...

Descripción completa

Detalles Bibliográficos
Autores principales:	Chang, Yin-Hsi, Kang, Eugene Yu-Chuan, Liu, Laura, Jenny, Laura A., Khang, Rin, Seo, Go Hun, Lee, Hane, Chen, Kuan-Jen, Wu, We-Chi, Hsiao, Meng-Chang, Wang, Nan-Kai
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	American Journal Experts 2023
Materias:	Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10055506/ https://www.ncbi.nlm.nih.gov/pubmed/36993412 http://dx.doi.org/10.21203/rs.3.rs-2554402/v1

Ejemplares similares

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

Characterization of SSBP1-related optic atrophy and foveopathy
por: Meunier, Isabelle, et al.
Publicado: (2021)

Case report: novel PCDH15 variant causes usher syndrome type 1F with congenital hearing loss and syndromic retinitis pigmentosa
por: Chen, Nelson, et al.
Publicado: (2022)

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

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

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

Patchy Scotoma Observed in Chorioretinal Patchy Atrophy of Myopic Macular Degeneration
por: Lo, Jung, et al.
Publicado: (2020)

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)

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)

Photoreceptor Manifestations of Primary Mitochondrial Optic Nerve Disorders
por: Chang, Yin-Hsi, et al.
Publicado: (2022)

Congenital Stationary Night Blindness: Clinical and Genetic Features
por: Kim, Angela H., et al.
Publicado: (2022)

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

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)

Adenoviral oncoprotein E1B55K mediates colocalization of SSBP2 and PML in response to stress
por: Fleisig, Helen B, et al.
Publicado: (2010)

Transcriptome analysis of CNS immediately before and after the detection of PrP(Sc) in SSBP/1 sheep scrapie
por: Gossner, Anton G., et al.
Publicado: (2014)

A functional polymorphism of SSBP1 gene predicts prognosis and response to chemotherapy in resected gastric cancer patients
por: Li, Qiuchen, et al.
Publicado: (2017)

SSBP1-Disease Update: Expanding the Genetic and Clinical Spectrum, Reporting Variable Penetrance and Confirming Recessive Inheritance
por: Jurkute, Neringa, et al.
Publicado: (2021)

Uncovering Low-Level Maternal Gonosomal Mosaicism in X-Linked Agammaglobulinemia: Implications for Genetic Counseling
por: Rivière, Jacques G., et al.
Publicado: (2020)

Mitochondrial SSBP1 protects cells from proteotoxic stresses by potentiating stress-induced HSF1 transcriptional activity
por: Tan, Ke, et al.
Publicado: (2015)

The ortholog of human ssDNA-binding protein SSBP3 influences neurodevelopment and autism-like behaviors in Drosophila melanogaster
por: Salim, Safa, et al.
Publicado: (2023)

The potential of Second Life for university counseling: a comparative approach examining media features and counseling problems
por: Yu, Fu-Yun, et al.
Publicado: (2017)

Erratum: Mitochondrial SSBP1 protects cells from proteotoxic stresses by potentiating stress-induced HSF1 transcriptional activity
por: Tan, Ke, et al.
Publicado: (2015)

Single-stranded DNA binding protein Ssbp3 induces differentiation of mouse embryonic stem cells into trophoblast-like cells
por: Liu, Jifeng, et al.
Publicado: (2016)

SSBP1 drives high fructose-induced glomerular podocyte ferroptosis via activating DNA-PK/p53 pathway
por: Wu, Wen-Yuan, et al.
Publicado: (2022)

Single-nucleotide-resolution sequencing of human N(6)-methyldeoxyadenosine reveals strand-asymmetric clusters associated with SSBP1 on the mitochondrial genome
por: Koh, Casslynn W Q, et al.
Publicado: (2018)

Y chromosome mosaicism is associated with age-related macular degeneration
por: Grassmann, Felix, et al.
Publicado: (2018)

Case report: Monoclonal CGRP-antibody treatment in a migraine patient with a mutation in the mitochondrial single-strand binding protein (SSBP1)
por: Kaltseis, Katharina, et al.
Publicado: (2022)

Identification of SSBP1 as a ferroptosis-related biomarker of glioblastoma based on a novel mitochondria-related gene risk model and in vitro experiments
por: Su, Jun, et al.
Publicado: (2022)

Quantification of transmission risk in a male patient with a FLNB mosaic mutation causing Larsen syndrome: Implications for genetic counseling in postzygotic mosaicism cases
por: Bernkopf, Marie, et al.
Publicado: (2017)

Molecular Mechanisms of Treadmill Therapy on Neuromuscular Atrophy Induced via Botulinum Toxin A
por: Tsai, Sen-Wei, et al.
Publicado: (2013)

Case of Degeneration and Atrophy of the Cerebrum, Causing Unilateral Epilepsy
por: M'Leod, Kenneth
Publicado: (1864)

LncSSBP1 Functions as a Negative Regulator of IL-6 Through Interaction With hnRNPK in Bronchial Epithelial Cells Infected With Talaromyces marneffei
por: Li, Yinghua, et al.
Publicado: (2020)

The circular RNA circZFR phosphorylates Rb promoting cervical cancer progression by regulating the SSBP1/CDK2/cyclin E1 complex
por: Zhou, Mingyi, et al.
Publicado: (2021)

Parental gonadossomatic mosaicism in HIVEP2-related intellectual disability and impact on genetic counseling–case report
por: Abreu, Maria, et al.
Publicado: (2023)

Age-associated mosaic respiratory chain deficiency causes trans-neuronal degeneration
por: Dufour, Eric, et al.
Publicado: (2008)

Downregulation of Mitochondrial Single Stranded DNA Binding Protein (SSBP1) Induces Mitochondrial Dysfunction and Increases the Radiosensitivity in Non-Small Cell Lung Cancer Cells
por: Wang, You, et al.
Publicado: (2017)

A Content Analysis of the Counseling Literature on Technology Integration: American Counseling Association (ACA) Counseling Journals between 2000 and 2018
por: Woo, Hongryun, et al.
Publicado: (2020)

Cannot write session to /tmp/vufind_sessions/sess_rvetsmlgfnd1s6rbj4p20t1oa2