Stanley F. Nelson

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

Published in The Open Psychiatry Journal

A New Bio-Molecules Decryption Protocol Using Shape-Encoded Particles (SEP)

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...

A genome-wide linkage scan of familial benign recurrent vertigo: linkage to 22q12 with evidence of heterogeneity.

Published in Human Molecular Genetics

Benign recurrent vertigo (BRV) is a common disorder affecting up to 2% of the adult population and may be etiologically related to migraine because of similarities in the clinical spectrum of the phenotypes and a high co-morbidity within families. Many families have multiple-affected genetically related individuals suggesting familial transmission ...

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,...

Evidence for sex-specific risk alleles in autism spectrum disorder.

Published in The American Journal of Human Genetics

We investigated the genetic aspects of the large sex bias in the prevalence of autism spectrum disorder by monitoring changes in linkage when the family set for an affected sibling pair genome scan is subdivided on the basis of the sex of affected children. This produces a significant excess in the total number of linkage peaks (P=1.3 x 10(-8)) and...

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...

Identification of genes required for immortalization in human papillomavirus-infected human oral keratinocytes.

Published in Cellular and molecular biology (Noisy-le-Grand, France)

The early stages of head and neck cancer are presumed to require a senes of genetic alterations that are not represented by a distinct clinical phenotype. Therefore, genes with altered expression in the preneoplasia may be useful for the early detection of this highly recurrent cancer. In this study, we immortalized normal human oral keratinocytes ...

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....

Familial migraine with vertigo: no mutations found in CACNA1A.

Published in American Journal of Medical Genetics

We searched for mutations in the voltage-gated calcium channel gene, CACNA1A, in nine propositi of families with migraine headaches and episodic vertigo inherited in an autosomal dominant pattern. All 47 exons and flanking introns in CACNA1A were subjected to single-strand conformation polymorphism analysis of polymerase chain reaction-amplified ge...

Gene expression profile correlates with T-cell infiltration and relative survival in glioblastoma patients vaccinated wi...

Published in Clinical Cancer Research

U87MG decoded: the genomic sequence of a cytogenetically aberrant human cancer cell line.

Published in PLoS Genetics

U87MG is a commonly studied grade IV glioma cell line that has been analyzed in at least 1,700 publications over four decades. In order to comprehensively characterize the genome of this cell line and to serve as a model of broad cancer genome sequencing, we have generated greater than 30x genomic sequence coverage using a novel 50-base mate paired...

Ciliary abnormalities due to defects in the retrograde transport protein DYNC2H1 in short-rib polydactyly syndrome.

Published in The American Journal of Human Genetics

The short-rib polydactyly (SRP) syndromes are a heterogeneous group of perinatal lethal skeletal disorders with polydactyly and multisystem organ abnormalities. Homozygosity by descent mapping in a consanguineous SRP family identified a genomic region that contained DYNC2H1, a cytoplasmic dynein involved in retrograde transport in the cilium. Affec...

Identification of EpCAM as the gene for congenital tufting enteropathy.

Published in Gastroenterology

Mapping autism risk loci using genetic linkage and chromosomal rearrangements

Published in Nature Genetics