Mitochondrial component of calcium signaling abnormality in autism
Autism: oxidative stress, inflammation and immune abnormalities
Genetic calcium signaling abnormalities in the CNS: seizures, migraine and autism
Annals of the New York Academy of Sciences
Society of General Physiologists symposium Ã¢â‚¬Å“Calcium: unlocking the mysteries
Mitochondrial energy-deficient endophenotype in autism
Ion channel functional candidate genes in polygenic neuropsychiatric disease
Mitochondrial and ion channel gene alterations in autism.
Biochim. Biophys. Acta., Oct;1817(10):1796-802 (2012)
Rapid identification of mitochondrial DNA (mtDNA) mutations in neuromuscular disorders by using surveyor strategy.
Mitochondrion., Mar;8(2):136-45 (2008)
A novel missense ATP1A2 mutation in a Finnish family with familial hemiplegic migraine type 2.
Neurogenetics., Jun;5(2):141-6 (2004)
Acute hemodialysis for hyperammonemia in small neonates.
Pediatr. Nephrol., Apr;19(4):390-5 (2004)
Respiratory complex II defect in siblings associated with a symptomatic secondary block in fatty acid oxidation.
J. Inherit. Metab. Dis., 26(7):659-70 (2003)
Novel truncated isoform of SK3 potassium channel is a potent dominant-negative regulator of SK currents: implications in schizophrenia.
Mol. Psychiatry., May;8(5):524-35, 460 (2003)
Phenotype and genotype variation in primary carnitine deficiency.
Genet. Med., 3(6):387-92 (2001 Nov-Dec)
Genomic organization and promoter analysis of human KCNN3 gene.
J. Hum. Genet., 46(8):463-70 (2001)
Lack of linkage or association between schizophrenia and the polymorphic trinucleotide repeat within the KCNN3 gene on chromosome 1q21.
Am. J. Med. Genet., Aug;88(4):348-51 (1999)
A piece in the puzzle: an ion channel candidate gene for schizophrenia.
Mol Med Today., Dec;4(12):518-24 (1998)
Transmission disequilibrium analysis of a triplet repeat within the hKCa3 gene using family trios with schizophrenia.
Biochem. Biophys. Res. Commun., Oct;251(2):662-5 (1998)
CCG1/TAF(II)250 regulates epidermal growth factor receptor gene transcription in cell cycle mutant ts13.
J. Cell. Physiol., Sep;176(3):642-7 (1998)
Human calcium-activated potassium channel gene KCNN4 maps to chromosome 19q13.2 in the region deleted in diamond-blackfan anemia.
Genomics., Jul;51(1):160-1 (1998)
Further support for an association between a polymorphic CAG repeat in the hKCa3 gene and schizophrenia.
Mol. Psychiatry., May;3(3):266-9 (1998)
Isolation of a novel potassium channel gene hSKCa3 containing a polymorphic CAG repeat: a candidate for schizophrenia and bipolar disorder?
Mol. Psychiatry., Jan;3(1):32-7 (1998)
Mutations causing achondroplasia and thanatophoric dysplasia alter bFGF-induced calcium signals in human diploid fibroblasts.
Hum. Mol. Genet., May;6(5):681-8 (1997)
Reduced epidermal growth factor receptor expression in hypohidrotic ectodermal dysplasia and Tabby mice.
J. Clin. Invest., Jun;97(11):2426-32 (1996)
The role of a PDGF-activated nonselective cation channel in the proliferative response.
EXS., 66:289-95 (1993)
Urinary concentrating ability in patients with Jk(a-b-) blood type who lack carrier-mediated urea transport.
J. Am. Soc. Nephrol., Jun;2(12):1689-96 (1992)
Blockers of platelet-derived growth factor-activated nonselective cation channel inhibit cell proliferation.
Am. J. Physiol., Jun;262(6 Pt 1):C1464-70 (1992)
Ethylmalonic/adipic aciduria: effects of oral medium-chain triglycerides, carnitine, and glycine on urinary excretion of organic acids, acylcarnitines, and acylglycines.
Pediatr. Res., Sep;30(3):216-21 (1991)
Urea transport deficiency in Jk(a-b-) erythrocytes.
Am. J. Physiol., Apr;260(4 Pt 1):C778-83 (1991)
Physiological processes revealed through an analysis of inborn errors.
Am. J. Physiol., Dec;255(6 Pt 2):F1047-58 (1988)
Gene transfer of a putative mammalian K+ channel gene from genomic and cosmid DNA.
Am. J. Physiol., Jul;255(1 Pt 1):C12-8 (1988)
Molecular biology in physiology.
FASEB J., Aug;1(2):97-102 (1987)
Selectable mutations altering two mechanisms of mammalian K+ transport are dominant.
Am. J. Physiol., May;252(5 Pt 1):C515-22 (1987)
Mutant isolation and gene transfer as tools in study of transport proteins.
Am. J. Physiol., May;252(5 Pt 1):C457-67 (1987)
Chromosome deletion 1q42-43.
Am. J. Med. Genet., May;24(1):1-6 (1986)