about
Different TBX5 interactions in heart and limb defined by Holt-Oram syndrome mutationsThe molecular mechanisms of OPA1-mediated optic atrophy in Drosophila model and prospects for antioxidant treatmentMutations in SLC25A46, encoding a UGO1-like protein, cause an optic atrophy spectrum disorderDeep Sequencing Reveals Novel Genetic Variants in Children with Acute Liver Failure and Tissue Evidence of Impaired Energy MetabolismHeterozygous mutation of Opa1 in Drosophila shortens lifespan mediated through increased reactive oxygen species production.The Phosphatidylcholine Transfer Protein Stard7 is Required for Mitochondrial and Epithelial Cell Homeostasis.A deafness-associated tRNAHis mutation alters the mitochondrial function, ROS production and membrane potential.Mitochondrial DNA variant associated with Leber hereditary optic neuropathy and high-altitude Tibetans.Current advances in Holt-Oram syndrome.Phenotypic and functional characterization of Bst+/- mouse retina.Modeling autosomal dominant optic atrophy using induced pluripotent stem cells and identifying potential therapeutic targetsTBX3 promotes human embryonic stem cell proliferation and neuroepithelial differentiation in a differentiation stage-dependent mannerA Recurrent Mosaic Mutation in SMO, Encoding the Hedgehog Signal Transducer Smoothened, Is the Major Cause of Curry-Jones Syndrome.A deafness-associated tRNAAsp mutation alters the m1G37 modification, aminoacylation and stability of tRNAAsp and mitochondrial function.Chemically induced specification of retinal ganglion cells from human embryonic and induced pluripotent stem cells.Species identification through mitochondrial rRNA genetic analysis.Neuropathy target esterase impairments cause Oliver-McFarlane and Laurence-Moon syndromes.Mitochondrial replacement in human oocytes carrying pathogenic mitochondrial DNA mutations.The exome sequencing identified the mutation in YARS2 encoding the mitochondrial tyrosyl-tRNA synthetase as a nuclear modifier for the phenotypic manifestation of Leber's hereditary optic neuropathy-associated mitochondrial DNA mutation.Metabolic rescue in pluripotent cells from patients with mtDNA disease.A girl with del(4)(q33) and occipital encephalocele: clinical description and molecular genetic characterization of a rare patient.Prevalence of Mitochondrial ND4 Mutations in 1281 Han Chinese Subjects With Leber's Hereditary Optic Neuropathy.A Novel Exonic Splicing Mutation in the TAZ (G4.5) Gene in a Case with Atypical Barth SyndromeMutation of OPA1 gene causes deafness by affecting function of auditory nerve terminals.Age-Related Accumulation of Somatic Mitochondrial DNA Mutations in Adult-Derived Human iPSCs.An Indian boy with nephropathic cystinosis: a case report and molecular analysis of CTNS mutation.Cardiac phenotypes in chromosome 4q- syndrome with and without a deletion of the dHAND gene.Biallelic mutations in the ferredoxin reductase gene cause novel mitochondriopathy with optic atrophy.Biochemical evidence for a mitochondrial genetic modifier in the phenotypic manifestation of Leber's hereditary optic neuropathy-associated mitochondrial DNA mutation.Left ventricular noncompaction is associated with mutations in the mitochondrial genome.Perspective: Is Random Monoallelic Expression a Contributor to Phenotypic Variability of Autosomal Dominant Disorders?Loss of SLC25A46 causes neurodegeneration by affecting mitochondrial dynamics and energy production in mice.Corrigendum to 'Live birth derived from oocyte spindle transfer to prevent mitochondrial disease': [Reproductive BioMedicine Online 34 (2017) 361-368].Response: First birth following spindle transfer - should we stay or should we go?Corrigendum to 'Live birth derived from oocyte spindle transfer to prevent mitochondrial disease' [Reproductive BioMedicine Online 34 (2017) 361-368].Live birth derived from oocyte spindle transfer to prevent mitochondrial disease.The spectrum of 4q- syndrome illustrated by a case series.Mitochondrial haplotypes may modulate the phenotypic manifestation of the LHON-associated m.14484T>C (MT-ND6) mutation in Chinese families.The current landscape for the treatment of mitochondrial disorders.Neonatal multiorgan failure due to ACAD9 mutation and complex I deficiency with mitochondrial hyperplasia in liver, cardiac myocytes, skeletal muscle, and renal tubules.
P50
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P50
description
researcher
@en
wetenschapper
@nl
name
T Huang
@en
T Huang
@nl
type
label
T Huang
@en
T Huang
@nl
prefLabel
T Huang
@en
T Huang
@nl
P106
P31
P496
0000-0001-6601-6687