Agenesis of corpus callosum and optic nerve hypoplasia due to mutations in SLC25A1 encoding the mitochondrial citrate transporter.
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Mutations in the Mitochondrial Citrate Carrier SLC25A1 are Associated with Impaired Neuromuscular TransmissionDisease Heterogeneity in Na+/Citrate Cotransporter Deficiency.SLC25A1, or CIC, is a novel transcriptional target of mutant p53 and a negative tumor prognostic markerClinical spectrum of females with HCCS mutation: from no clinical signs to a neonatal lethal form of the microphthalmia with linear skin defects (MLS) syndrome.Pharmacogenetics in Jewish populations.Yeast as a system for modeling mitochondrial disease mechanisms and discovering therapies.Severe Neonatal Presentation of Mitochondrial Citrate Carrier (SLC25A1) Deficiency.Next-generation sequencing for mitochondrial disordersMitochondrial transporters of the SLC25 family and associated diseases: a review.Expanding the Clinical Spectrum of Mitochondrial Citrate Carrier (SLC25A1) Deficiency: Facial Dysmorphism in Siblings with Epileptic Encephalopathy and Combined D,L-2-Hydroxyglutaric Aciduria.A key role of the mitochondrial citrate carrier (SLC25A1) in TNFα- and IFNγ-triggered inflammation.Single-nucleotide evolution quantifies the importance of each site along the structure of mitochondrial carriers.An overview of combined D-2- and L-2-hydroxyglutaric aciduria: functional analysis of CIC variants.Mitochondria in complex psychiatric disorders: Lessons from mouse models of 22q11.2 deletion syndrome: Hemizygous deletion of several mitochondrial genes in the 22q11.2 genomic region can lead to symptoms associated with neuropsychiatric disease.Transport of Citrate from Mitochondrial Matrix to cytosolA novel homozygous SLC25A1 mutation with impaired mitochondrial complex V: Possible phenotypic expansion.Manifestation of recessive combined D-2-, L-2-hydroxyglutaric aciduria in combination with 22q11.2 deletion syndrome.Citrate usage in the leading causes of blindness: new possibilities for the old metabolite.Molecular genetics of 22q11.2 deletion syndrome
P2860
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P2860
Agenesis of corpus callosum and optic nerve hypoplasia due to mutations in SLC25A1 encoding the mitochondrial citrate transporter.
description
2013 nî lūn-bûn
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2013年学术文章
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@zh-hans
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name
Agenesis of corpus callosum an ...... chondrial citrate transporter.
@en
Agenesis of corpus callosum an ...... chondrial citrate transporter.
@nl
type
label
Agenesis of corpus callosum an ...... chondrial citrate transporter.
@en
Agenesis of corpus callosum an ...... chondrial citrate transporter.
@nl
prefLabel
Agenesis of corpus callosum an ...... chondrial citrate transporter.
@en
Agenesis of corpus callosum an ...... chondrial citrate transporter.
@nl
P2093
P50
P1476
Agenesis of corpus callosum an ...... ochondrial citrate transporter
@en
P2093
Abraham Schechter
Avraham Shaag
Ayala Frumkin
Chaim Jalas
Devorah Soiferman
Luigi Palmieri
Nitay D Fraenkel
Orly Elpeleg
Reeval Segel
Stanley H Korman
P304
P356
10.1136/JMEDGENET-2012-101485
P407
P577
2013-02-07T00:00:00Z