Stanley F. Nelson

Association analysis of candidate genes for ADHD on chromosomes 5p13, 6q12, 16p and 17p

Published in The Open Psychiatry Journal

Genome wide analysis of single nucleotide polymorphisms in human expressed sequences

Published in Nature Genetics

No evidence of linkage or linkage disequilibrium between DAT1 and attention deficit hyperactivity disorder in a large sa...

Published in Psychiatric Genetics, Sept

Hereditary endotheliopathy with retinopathy, nephropathy, and stroke (HERNS)

Published in Neurology

A locus for the nystagmus-associated form of episodic ataxia maps to an 11 cM region on chromosome 19p

Published in The American Journal of Human Genetics

Mutations in IRX5 impair craniofacial development and germ cell migration via SDF1.

Published in Nature Genetics

Using homozygosity mapping and locus resequencing, we found that alterations in the homeodomain of the IRX5 transcription factor cause a recessive congenital disorder affecting face, brain, blood, heart, bone and gonad development. We found through in vivo modeling in Xenopus laevis embryos that Irx5 modulates the migration of progenitor cell popul...

Oxysterols are novel activators of the hedgehog signaling pathway in pluripotent mesenchymal cells.

Published in Journal of Biological Chemistry

Pluripotent mesenchymal cells form a population of precursors to a variety of cell types, including osteoblasts and adipocytes. Aging tilts the balance in favor of adipocyte differentiation at the expense of osteoblast differentiation, resulting in reduced bone formation and osteopenic disorders, including osteoporosis, in humans and animals. Under...

FXR regulates organic solute transporters alpha and beta in the adrenal gland, kidney, and intestine.

Published in The Journal of Lipid Research

Expression of the farnesoid X receptor (FXR; NR1H4) is limited to the liver, intestine, kidney, and adrenal gland. However, the role of FXR in the latter two organs is unknown. In the current study, we performed microarray analysis using RNA from H295R cells infected with constitutively active FXR. Several putative FXR target genes were identified,...

Pooled genome-wide linkage data on 424 ADHD ASPs suggests genetic heterogeneity and a common risk locus at 5p13.

Published in Molecular Psychiatry

CEP41 is mutated in Joubert syndrome and is required for tubulin glutamylation at the cilium.

Published in Nature Genetics

Tubulin glutamylation is a post-translational modification that occurs predominantly in the ciliary axoneme and has been suggested to be important for ciliary function. However, its relationship to disorders of the primary cilium, termed ciliopathies, has not been explored. Here we mapped a new locus for Joubert syndrome (JBTS), which we have desig...

DNA-microarray analysis of brain cancer: molecular classification for therapy.

Published in Nature reviews. Neuroscience

Primary brain tumours are among the most lethal of all cancers, largely as a result of their lack of responsiveness to current therapy. Numerous new therapies hold great promise for the treatment of patients with brain cancer, but the main challenge is to determine which treatment is most likely to benefit an individual patient. DNA-microarray-base...

Efficient discovery of single-nucleotide polymorphisms in coding regions of human genes.

Published in The Pharmacogenomics Journal

Single nucleotide polymorphisms in protein coding regions (cSNPs) are of great interest for their effects on phenotype and potential for mapping disease genes. We have identified 5,400 novel exonic SNPs from alignments of public EST data to the draft human genome sequence, and approximately 12,000 more novel exonic SNPs from EST cluster alignments....

Genetic linkage of attention-deficit/hyperactivity disorder on chromosome 16p13, in a region implicated in autism.

Published in The American Journal of Human Genetics

Attention-deficit/hyperactivity disorder (ADHD) is the most commonly diagnosed behavioral disorder in childhood and likely represents an extreme of normal behavior. ADHD significantly impacts learning in school-age children and leads to impaired functioning throughout the life span. There is strong evidence for a genetic etiology of the disorder, a...

SPP1 genotype is a determinant of disease severity in Duchenne muscular dystrophy: predicting the severity of Duchenne m...

Published in Neurology

Genomic organization, 5 flanking enhancer region, and chromosomal assignment of the cell cycle gene, p55Cdc.

Published in Molecular Genetics and Metabolism

p55Cdc is a mammalian homologue of a family of cell cycle proteins from widely divergent species, which contains WD repeats and has been implicated in cell cycle-regulated ubiquitin-mediated proteolysis. p55Cdc is highly expressed in proliferating but not in differentiated or growth-arrested cells. The expression, phosphorylation, and degradation o...

Genomic mismatch scanning: current progress and potential applications.

Published in Electrophoresis

Genomic mismatch scanning (GMS) is a new method of genetic mapping which attempts to purify and map the regions of identity between two complex genomes in a single test. Identical DNA fragments from two genomic sources are enriched in two steps: (i) after reannealing of the two genomes, heterohybrids are purified by using a combination of a restric...

Loss of CHSY1, a secreted FRINGE enzyme, causes syndromic brachydactyly in humans via increased NOTCH signaling.

Published in The American Journal of Human Genetics

We delineated a syndromic recessive preaxial brachydactyly with partial duplication of proximal phalanges to 16.8 Mb over 4 chromosomes. High-throughput sequencing of all 177 candidate genes detected a truncating frameshift mutation in the gene CHSY1 encoding a chondroitin synthase with a Fringe domain. CHSY1 was secreted from patients fibroblasts...

Lethal skeletal dysplasia in mice and humans lacking the golgin GMAP-210.

Published in New England Journal of Medicine

Bevacizumab and chemotherapy for recurrent glioblastoma: a single-institution experience.

Published in Neurology

Rare structural variants disrupt multiple genes in neurodevelopmental pathways in schizophrenia.

Published in Science

Schizophrenia is a devastating neurodevelopmental disorder whose genetic influences remain elusive. We hypothesize that individually rare structural variants contribute to the illness. Microdeletions and microduplications >100 kilobases were identified by microarray comparative genomic hybridization of genomic DNA from 150 individuals with schizoph...