Mutant deoxynucleotide carrier is associated with congenital microcephaly.
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Brain shape in human microcephalics and Homo floresiensisKnockout of Slc25a19 causes mitochondrial thiamine pyrophosphate depletion, embryonic lethality, CNS malformations, and anemiaA developmental and genetic classification for malformations of cortical development: update 2012SLC transporters as therapeutic targets: emerging opportunitiesPhysiological and pathological roles of mitochondrial SLC25 carriersMitoferrin is essential for erythroid iron assimilationp21-Activated kinases 1 and 3 control brain size through coordinating neuronal complexity and synaptic propertiesAutosomal recessive primary microcephaly (MCPH): a review of clinical, molecular, and evolutionary findingsNeurological Disorders Associated with Striatal Lesions: Classification and Diagnostic Approach.Congenital dysplastic microcephaly and hypoplasia of the brainstem and cerebellum with diffuse intracranial calcification.PedHunter 2.0 and its usage to characterize the founder structure of the Old Order Amish of Lancaster County.Thiamine metabolism is critical for regulating correlated growth of dendrite arbors and neuronal somata.Development of head organizer of the mouse embryo depends on a high level of mitochondrial metabolism.Inherited mitochondrial DNA depletion.Inherited mitochondrial diseases of DNA replicationMitochondrial uptake of thiamin pyrophosphate: physiological and cell biological aspects.Anabaptist genealogy database.Alteration of nucleotide metabolism: a new mechanism for mitochondrial disorders.Thiamine pyrophosphokinase deficiency in encephalopathic children with defects in the pyruvate oxidation pathwayAntiretroviral nucleosides, deoxynucleotide carrier and mitochondrial DNA: evidence supporting the DNA pol gamma hypothesis.Genetic links between brain development and brain evolution.Origins of mitochondrial thymidine triphosphate: dynamic relations to cytosolic pools.Mitochondrial transporters as novel targets for intracellular calcium signaling.Mutation of the mitochondrial carrier SLC25A42 causes a novel form of mitochondrial myopathy in humansE4F1 controls a transcriptional program essential for pyruvate dehydrogenase activityDefects of thiamine transport and metabolism.Mitochondrial transporters of the SLC25 family and associated diseases: a review.Treatment of genetic defects of thiamine transport and metabolism.A novel mutation in the SLC25A15 gene in a Turkish patient with HHH syndrome: functional analysis of the mutant protein.Thymidine phosphorylase deficiency causes MNGIE: an autosomal recessive mitochondrial disorder.Mitochondrial deoxyribonucleotides, pool sizes, synthesis, and regulation.Structure-function characterization of the human mitochondrial thiamin pyrophosphate transporter (hMTPPT; SLC25A19): Important roles for Ile(33), Ser(34), Asp(37), His(137) and Lys(291).Adaptive regulation of pancreatic acinar mitochondrial thiamin pyrophosphate uptake process: possible involvement of epigenetic mechanism(s).The evolution of cortical development: the synapsid-diapsid divergence.Homozygous mutation, p.Pro304His, in IDH3A, encoding isocitrate dehydrogenase subunit is associated with severe encephalopathy in infancy.Cardiolipin dynamics and binding to conserved residues in the mitochondrial ADP/ATP carrier.New recessive syndrome of microcephaly, cerebellar hypoplasia, and congenital heart conduction defectThe Genetics of Brain Malformations
P2860
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P2860
Mutant deoxynucleotide carrier is associated with congenital microcephaly.
description
2002 nî lūn-bûn
@nan
2002 թուականի Օգոստոսին հրատարակուած գիտական յօդուած
@hyw
2002 թվականի օգոստոսին հրատարակված գիտական հոդված
@hy
2002年の論文
@ja
2002年論文
@yue
2002年論文
@zh-hant
2002年論文
@zh-hk
2002年論文
@zh-mo
2002年論文
@zh-tw
2002年论文
@wuu
name
Mutant deoxynucleotide carrier is associated with congenital microcephaly.
@ast
Mutant deoxynucleotide carrier is associated with congenital microcephaly.
@en
Mutant deoxynucleotide carrier is associated with congenital microcephaly.
@nl
type
label
Mutant deoxynucleotide carrier is associated with congenital microcephaly.
@ast
Mutant deoxynucleotide carrier is associated with congenital microcephaly.
@en
Mutant deoxynucleotide carrier is associated with congenital microcephaly.
@nl
prefLabel
Mutant deoxynucleotide carrier is associated with congenital microcephaly.
@ast
Mutant deoxynucleotide carrier is associated with congenital microcephaly.
@en
Mutant deoxynucleotide carrier is associated with congenital microcephaly.
@nl
P2093
P50
P356
P1433
P1476
Mutant deoxynucleotide carrier is associated with congenital microcephaly.
@en
P2093
Alejandro A Schäffer
D Holmes Morton
Elizabeth M Petty
Ferdinando Palmieri
Gerard Bouffard
James L Weber
Joie Davis
Linda M Kalikin
Marjorie J Rosenberg
Mark S Hilliard
P2888
P304
P356
10.1038/NG948
P407
P577
2002-08-19T00:00:00Z