Research Topics
Genomes and Genes
| Brett H GrahamSummaryAffiliation: Baylor College of Medicine Country: USA Publications
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Detail Information
Publications
Neurologic dysfunction and male infertility in Drosophila porin mutants: a new model for mitochondrial dysfunction and diseaseBrett H Graham
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA
J Biol Chem 285:11143-53. 2010....
Diagnostic challenges of mitochondrial disorders: complexities of two genomesBrett H Graham
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA
Methods Mol Biol 837:35-46. 2012..The growing list of known disease-causing genes and the promise of next generation sequencing technologies will undoubtedly improve diagnostic accuracy and genetic counseling for this challenging group of disorders...
Genetic strategies for dissecting mammalian and Drosophila voltage-dependent anion channel functionsWilliam J Craigen
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA
J Bioenerg Biomembr 40:207-12. 2008..Striking similarities to mouse VDAC mutants can be found that emphasize the conservation of function over a long evolutionary time frame...
Mutations in the mitochondrial methionyl-tRNA synthetase cause a neurodegenerative phenotype in flies and a recessive ataxia (ARSAL) in humansVafa Bayat
Program in Developmental Biology, Baylor College of Medicine, Houston, Texas, United States of America
PLoS Biol 10:e1001288. 2012..Patient cells also exhibited reduced Complex I activity, increased ROS, and a slower cell proliferation rate, similar to Drosophila Aats-met mutants...
An integrated approach for classifying mitochondrial DNA variants: one clinical diagnostic laboratory's experienceJing Wang
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA
Genet Med 14:620-6. 2012..Clinicians are increasingly interested in requesting mtDNA testing. However, interpretation of uncharacterized mtDNA variants is a great challenge. We suggest a stepwise interpretation procedure for clinical service...
Recurrent reciprocal 16p11.2 rearrangements associated with global developmental delay, behavioural problems, dysmorphism, epilepsy, and abnormal head sizeMarwan Shinawi
Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, NAB 2015, Houston, Texas 77030, USA
J Med Genet 47:332-41. 2010..Deletion and the reciprocal duplication in 16p11.2 were recently associated with autism and developmental delay...
Two mtDNA mutations 14487T>C (M63V, ND6) and 12297T>C (tRNA Leu) in a Leigh syndrome familyJing Wang
Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, NAB 2015, Houston, TX 77030, USA
Mol Genet Metab 96:59-65. 2009..The 12297T>C mutation was not associated with dilated cardiomyopathy for the family members who were clinically evaluated and who were shown by testing to be nearly homoplasmic for that mutation...
Structures and molecular mechanisms for common 15q13.3 microduplications involving CHRNA7: benign or pathological?Przemyslaw Szafranski
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA
Hum Mutat 31:840-50. 2010..Nevertheless, if they prove to have a pathological effects, their high frequency could make them a common risk factor for many neurobehavioral disorders...
Current molecular diagnostic algorithm for mitochondrial disordersLee Jun C Wong
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA
Mol Genet Metab 100:111-7. 2010..The ever-expanding list of known disease-causing genes will undoubtedly improve diagnostic accuracy and genetic counseling...
Delineation of a deletion region critical for corpus callosal abnormalities in chromosome 1q43-q44Sandesh C Sreenath Nagamani
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA
Eur J Hum Genet 20:176-9. 2012..Our results rule out the involvement of AKT3, and implicate CEP170 and/or ZNF238 as novel genes causative for CCA in patients with a terminal 1q deletion...
Measurement of mitochondrial oxygen consumption using a Clark electrodeZhihong Li
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA
Methods Mol Biol 837:63-72. 2012..This chapter describes the traditional method of mitochondrial polarography using a Clark electrode for measuring coupled respiration in freshly isolated mitochondria from both mammalian tissues and Drosophila melanogaster...
Noninvasive, in vivo approaches to evaluating behavior and exercise physiology in mouse models of mitochondrial diseaseBrett H Graham
Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Houston, TX 77030, USA
Methods 26:364-70. 2002..This review presents various behavioral and exercise physiology protocols that can be used for the evaluation of potential mouse models of human mitochondrial disorders...
Genetic approaches to analyzing mitochondrial outer membrane permeabilityBrett H Graham
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA
Curr Top Dev Biol 59:87-118. 2004
Mitochondrial voltage-dependent anion channel gene family in Drosophila melanogaster: complex patterns of evolution, genomic organization, and developmental expressionBrett H Graham
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA
Mol Genet Metab 85:308-17. 2005....
Voltage-dependant anion channels: novel insights into isoform function through genetic modelsAdithya Raghavan
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77025, USA
Biochim Biophys Acta 1818:1477-85. 2012..This article is part of a Special Issue entitled: VDAC structure, function, and regulation of mitochondrial metabolism...
The C8ORF38 homologue Sicily is a cytosolic chaperone for a mitochondrial complex I subunitKe Zhang
Program in Structural and Computational Biology and Molecular Biophysics, Baylor College of Medicine, Houston, TX 77030, USA
J Cell Biol 200:807-20. 2013..Our data indicate that cytosolic chaperones are required for the subcellular transport of ND42...
Sox9 and NFIA coordinate a transcriptional regulatory cascade during the initiation of gliogenesisPeng Kang
Center for Cell and Gene Therapy, Baylor College of Medicine, One Baylor Plaza, Houston, TX 77030, USA
Neuron 74:79-94. 2012....
Ménage-à-trois 1 is critical for the transcriptional function of PPARgamma coactivator 1Motoaki Sano
Center for Cardiovascular Development, Baylor College of Medicine, Houston, TX 77030, USA
Cell Metab 5:129-42. 2007..PGC-1 bound to both MAT1 and Cdk7 in coprecipitation assays. Thus, we demonstrate a requirement for MAT1 in the operation of PGC-1 coactivators that control cell metabolism...
A syndrome of short stature, microcephaly and speech delay is associated with duplications reciprocal to the common Sotos syndrome deletionLuis M Franco
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA
Eur J Hum Genet 18:258-61. 2010..The phenotype is remarkably opposite to that of Sotos syndrome, suggesting a role for NSD1 in the regulation of somatic growth in humans...
Intrauterine growth retardation and placental vacuolization as presenting features in a case of GM1 gangliosidosisNicola Brunetti Pierri
Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Houston, TX 77030, USA
J Inherit Metab Dis 30:823. 2007....
The mitochondrial 13513G>A mutation is associated with Leigh disease phenotypes independent of complex I deficiency in muscleAriel Brautbar
Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, NAB 2015, Houston, TX 77030, USA
Mol Genet Metab 94:485-90. 2008....
Activin signaling: effects on body composition and mitochondrial energy metabolismLiunan Li
Department of Pediatrics, MD Anderson Cancer Center, Baylor College of Medicine, Houston, Texas 77030, USA
Endocrinology 150:3521-9. 2009....
