Cargando…

Heterozygous SSBP1 start loss mutation co-segregates with hearing loss and the m.1555A>G mtDNA variant in a large multigenerational family

The m.1555A>G mtDNA variant causes maternally inherited deafness, but the reasons for the highly variable clinical penetrance are not known. Exome sequencing identified a heterozygous start loss mutation in SSBP1, encoding the single stranded binding protein 1 (SSBP1), segregating with hearing lo...

Descripción completa

Detalles Bibliográficos
Autores principales:	Kullar, Peter J, Gomez-Duran, Aurora, Gammage, Payam A, Garone, Caterina, Minczuk, Michal, Golder, Zoe, Wilson, Janet, Montoya, Julio, Häkli, Sanna, Kärppä, Mikko, Horvath, Rita, Majamaa, Kari, Chinnery, Patrick F
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Oxford University Press 2018
Materias:	Reports
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5837410/ https://www.ncbi.nlm.nih.gov/pubmed/29182774 http://dx.doi.org/10.1093/brain/awx295

Ejemplares similares

Dominant mutations in mtDNA maintenance gene SSBP1 cause optic atrophy and foveopathy
por: Piro-Mégy, Camille, 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)

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

Screening of the mitochondrial A1555G mutation in patients with sensorineural hearing loss
por: Maniglia, Luciano Pereira, et al.
Publicado: (2015)

Mutations in the two ribosomal RNA genes in mitochondrial DNA among Finnish children with hearing impairment
por: Häkli, Sanna, et al.
Publicado: (2015)

POLG1 p.R722H mutation associated with multiple mtDNA deletions and a neurological phenotype
por: Komulainen, Tuomas, et al.
Publicado: (2010)

C7orf30 is necessary for biogenesis of the large subunit of the mitochondrial ribosome
por: Rorbach, Joanna, et al.
Publicado: (2012)

C7orf30 is necessary for biogenesis of the large subunit of the mitochondrial ribosome
por: Rorbach, Joanna, et al.
Publicado: (2016)

Mitochondrial Genome Engineering: The Revolution May Not Be CRISPR-Ized
por: Gammage, Payam A., et al.
Publicado: (2018)

Mitochondrially-targeted APOBEC1 is a potent mtDNA mutator affecting mitochondrial function and organismal fitness in Drosophila
por: Andreazza, Simonetta, et al.
Publicado: (2019)

Near-complete elimination of mutant mtDNA by iterative or dynamic dose-controlled treatment with mtZFNs
por: Gammage, Payam A., et al.
Publicado: (2016)

Variant m.1555A>G in MT-RNR1 causes hearing loss and multiorgan mitochondrial disorder
por: Finsterer, Josef
Publicado: (2020)

Creation of Cybrid Cultures Containing mtDNA Mutations m.12315G>A and m.1555G>A, Associated with Atherosclerosis
por: Sazonova, Margarita A., et al.
Publicado: (2019)

Genome editing in mitochondria corrects a pathogenic mtDNA mutation in vivo
por: Gammage, Payam A., et al.
Publicado: (2018)

Molecular and Clinical Characterization of the Variable Phenotype in Korean Families with Hearing Loss Associated with the Mitochondrial A1555G Mutation
por: Bae, Jae Woong, et al.
Publicado: (2012)

MRPS18CP2 alleles and DEFA3 absence as putative chromosome 8p23.1 modifiers of hearing loss due to mtDNA mutation A1555G in the 12S rRNA gene
por: Ballana, Ester, et al.
Publicado: (2007)

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

Oxygen tension modulates the mitochondrial genetic bottleneck and influences the segregation of a heteroplasmic mtDNA variant in vitro
por: Pezet, Mikael G., et al.
Publicado: (2021)

Analysis of the heteroplasmy level and transmitted features in hearing-loss pedigrees with mitochondrial 12S rRNA A1555G mutation
por: Zhu, Yuhua, et al.
Publicado: (2014)

Non-Random mtDNA Segregation Patterns Indicate a Metastable Heteroplasmic Segregation Unit in m.3243A>G Cybrid Cells
por: Raap, Anton K., et al.
Publicado: (2012)

Mutation m.15923A>G in the MT-TT gene causes mild myopathy – case report of an adult-onset phenotype
por: Kärppä, Mikko, et al.
Publicado: (2018)

Phenotype of Patients With Charcot-Marie-Tooth With the p.His123Arg Mutation in GDAP1 in Northern Finland
por: Lehtilahti, Maria, et al.
Publicado: (2021)

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

OPA1 mutations cause cytochrome c oxidase deficiency due to loss of wild-type mtDNA molecules
por: Yu-Wai-Man, Patrick, et al.
Publicado: (2010)

Mitochondrially targeted ZFNs for selective degradation of pathogenic mitochondrial genomes bearing large-scale deletions or point mutations
por: Gammage, Payam A, et al.
Publicado: (2014)

Vesalius Revised. His Annotations to the 1555 Fabrica(1)
por: Nutton, Vivian
Publicado: (2012)

Loss of mtDNA activates astrocytes and leads to spongiotic encephalopathy
por: Ignatenko, Olesia, et al.
Publicado: (2018)

mtDNA mutations, hearing loss and aminoglycoside treatment in Mexicans
por: G, Meza, 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)

PINK1 drives production of mtDNA-containing extracellular vesicles to promote invasiveness
por: Rabas, Nicolas, et al.
Publicado: (2021)

1555. Evaluation of Local Pathogens and Management of Diabetic Foot Infections
por: Seadler, Jessica L, et al.
Publicado: (2020)

Similar patterns of clonally expanded somatic mtDNA mutations in the colon of heterozygous mtDNA mutator mice and ageing humans
por: Baines, Holly L., et al.
Publicado: (2014)

Copy number variants encompassing Mendelian disease genes in a large multigenerational family segregating bipolar disorder
por: Kember, Rachel L, et al.
Publicado: (2015)

Mitochondrial haplogroup B increases the risk for hearing loss among the Eastern Asian pedigrees carrying 12S rRNA 1555A>G mutation
por: Ying, Zhengbiao, et al.
Publicado: (2015)

Increased TFAM binding to mtDNA damage hot spots is associated with mtDNA loss in aged rat heart
por: Chimienti, Guglielmina, et al.
Publicado: (2018)

Energetic costs of cellular and therapeutic control of stochastic mitochondrial DNA populations
por: Hoitzing, Hanne, et al.
Publicado: (2019)

Heterozygous Polg mutation causes motor dysfunction due to mtDNA deletions
por: Fuke, Satoshi, et al.
Publicado: (2014)

Heterozygous loss-of-function variants significantly expand the phenotypes associated with loss of GDF11
por: Ravenscroft, Thomas A., et al.
Publicado: (2021)

The Multigenerational Sales Team
por: Shiver, Warren
Publicado: (2017)

Cannot write session to /tmp/vufind_sessions/sess_dkgivnvtafsi96hadc1n1uem0h