Cargando…

Novel compound heterozygous SUCLG1 variants may contribute to mitochondria DNA depletion syndrome‐9

BACKGROUND: Succinate‐CoA ligase/synthetase (SCS) deficiency is responsible for encephalomyopathy with mitochondrial DNA depletion and mild methylmalonic aciduria. Variants in SUCLG1, the nuclear gene encoding the alpha subunit of the SCS enzyme playing a pivotal role in maintaining mtDNA integrity...

Descripción completa

Detalles Bibliográficos
Autores principales:	Chen, Yi‐ming, Chen, Wei, Xu, Yue, Lu, Chao‐sheng, Zhu, Mian‐mian, Sun, Rong‐yue, Wang, Yihong, Chen, Yuan, Shi, Jiaming, Wang, Dan
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	John Wiley and Sons Inc. 2022
Materias:	Original Articles
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9482404/ https://www.ncbi.nlm.nih.gov/pubmed/35762302 http://dx.doi.org/10.1002/mgg3.2010

Ejemplares similares

Leigh-like syndrome with mild mtDNA depletion due to the SUCLG1 variant c.626C > T
por: Finsterer, Josef
Publicado: (2018)

A SUCLG1 mutation in a patient with mitochondrial DNA depletion and congenital anomalies
por: Landsverk, Megan L., et al.
Publicado: (2014)

Response to “Leigh-like syndrome with mild mtDNA depletion due to the SUCLG1 variant c.626C>A”
por: Chinopoulos, Christos, et al.
Publicado: (2018)

Novel Germline SUCLG2 Mutations in Patients With Pheochromocytoma and Paraganglioma
por: Vanova, Katerina Hadrava, et al.
Publicado: (2021)

A fatal case of mitochondrial DNA depletion syndrome with novel compound heterozygous variants in the deoxyguanosine kinase gene
por: Fang, Weiyuan, et al.
Publicado: (2017)

Pulmonary hypertension may be secondary in carriers of compound heterozygous FOXRED1 variants
por: Finsterer, Josef
Publicado: (2019)

Compound heterozygous KCNV2 variants contribute to cone dystrophy with supernormal rod responses in a Chinese family
por: Liu, Man, et al.
Publicado: (2021)

Identification of Novel Compound Heterozygous Variants of MMP9 in Fetus With Metaphyseal Anadysplasia Type 2
por: Cheng, Lin, et al.
Publicado: (2022)

Compound Heterozygous Variants in a Surviving Patient With Alkuraya-Kučinskas Syndrome: A New Case Report and a Review of the Literature
por: Yue, Ling, et al.
Publicado: (2022)

Novel PAX9 compound heterozygous variants in a Chinese family with non-syndromic oligodontia and genotype-phenotype analysis of PAX9 variants
por: Jiabao, REN, et al.
Publicado: (2023)

Novel Compound Heterozygous Variants in MKS1 Leading to Joubert Syndrome
por: Luo, Minna, et al.
Publicado: (2020)

CompoundHetVIP: Compound Heterozygous Variant Identification Pipeline
por: Miller, Dustin B., et al.
Publicado: (2021)

Prenatal whole exome sequencing identified two rare compound heterozygous variants in EVC2 causing Ellis‐van Creveld syndrome
por: Zhuang, Jianlong, et al.
Publicado: (2023)

Case Report: Novel compound heterozygous variants in CHRNA1 gene leading to lethal multiple pterygium syndrome: A case report
por: Zhuang, Jianlong, et al.
Publicado: (2022)

Novel compound heterozygous EYS variants may be associated with arRP in a large Chinese pedigree
por: Wei, Chunli, et al.
Publicado: (2020)

An Epigenetic Role of Mitochondria in Cancer
por: Liu, Yu’e, et al.
Publicado: (2022)

CHRNE compound heterozygous mutations in congenital myasthenic syndrome: A case report
por: Yang, Kunfang, et al.
Publicado: (2018)

Novel Compound Heterozygous Variants in TBCD Gene Associated with Infantile Neurodegenerative Encephalopathy
por: Chen, Chih-Ling, et al.
Publicado: (2021)

Filtering for Compound Heterozygous Sequence Variants in Non-Consanguineous Pedigrees
por: Kamphans, Tom, et al.
Publicado: (2013)

Compound Heterozygous Variants in Pediatric Cancers: A Systematic Review
por: Miller, Dustin B., et al.
Publicado: (2020)

Compound heterozygous GLI3 variants in siblings with thyroid hemiagenesis
por: Szczepanek-Parulska, Ewelina, et al.
Publicado: (2020)

MCAD deficiency caused by compound heterozygous pathogenic variants in ACADM
por: Nohara, Fumikatsu, et al.
Publicado: (2022)

Case Report: Compound Heterozygous Variants in MOCS3 Identified in a Chinese Infant With Molybdenum Cofactor Deficiency
por: Tian, Qi, et al.
Publicado: (2021)

Compound heterozygous loss of function variants in MYL9 in a child with megacystis–microcolon–intestinal hypoperistalsis syndrome
por: Kandler, Justin L., et al.
Publicado: (2020)

A heterozygous LAMA5 variant may contribute to slowly progressive, vinculin-enhanced familial FSGS and pulmonary defects
por: Kaimori, Jun-Ya, et al.
Publicado: (2022)

Novel Compound Heterozygous TMPRSS15 Gene Variants Cause Enterokinase Deficiency
por: Wang, Lan, et al.
Publicado: (2020)

Heterozygous pathogenic variants in CWF19L1 in a Chinese family with spinocerebellar ataxia, autosomal recessive 17
por: Ruan, Miaohua, et al.
Publicado: (2022)

Normal early development in siblings with novel compound heterozygous variants in ASPM
por: Moriwaki, Taro, et al.
Publicado: (2020)

Two Different PRKN Compound Heterozygous Variants Combinations in the Same Family
por: Biehler, Margaux, et al.
Publicado: (2023)

Identification and characterization of novel compound heterozygous variants in FSHR causing primary ovarian insufficiency with resistant ovary syndrome
por: Chen, Xiaopan, et al.
Publicado: (2023)

Compound heterozygous variants in LAMC3 in association with posterior periventricular nodular heterotopia
por: De Angelis, Carla, et al.
Publicado: (2021)

Novel Compound Heterozygous BBS2 and Homozygous MKKS Variants Detected in Chinese Families with Bardet–Biedl Syndrome
por: Huang, Li, et al.
Publicado: (2021)

Case Report: Report of Two Cases of Interstitial Lung Disease Caused by Novel Compound Heterozygous Variants in the ABCA3 Gene
por: Chen, Fang, et al.
Publicado: (2022)

Compound heterozygous pathogenic variants in the GALC gene cause infant-onset Krabbe disease
por: Zhang, Xiaoli, et al.
Publicado: (2021)

FINE STRUCTURE OF LIPID-DEPLETED MITOCHONDRIA
por: Fleischer, Sidney, et al.
Publicado: (1967)

A novel compound heterozygous variant of the SLC12A3 gene in Gitelman syndrome pedigree
por: Chen, Yixin, et al.
Publicado: (2018)

A novel compound heterozygous SPG7 variant is associated with progressive spastic ataxia and persecutory delusions found in Chinese patients: two case reports
por: Wang, Shan, et al.
Publicado: (2022)

METTL3‐stabilized super enhancers‐lncRNA SUCLG2‐AS1 mediates the formation of a long‐range chromatin loop between enhancers and promoters of SOX2 in metastasis and radiosensitivity of nasopharyngeal carcinoma
por: Hu, Xinyu, et al.
Publicado: (2023)

Novel compound heterozygous NMNAT1 variants associated with Leber congenital amaurosis
por: Siemiatkowska, Anna M., et al.
Publicado: (2014)

Two Cases of Cystic Fibrosis with Compound Heterozygous Variants Reported for the First Time
por: Yalçıntepe, Sinem, et al.
Publicado: (2020)

Cannot write session to /tmp/vufind_sessions/sess_itdfl3vrnoomp4e98jra416t4q