The Experts below are selected from a list of 360 Experts worldwide ranked by ideXlab platform
Peter Mombaerts - One of the best experts on this subject based on the ideXlab platform.
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odorant Receptor Gene choice in olfactory sensory neurons the one Receptor one neuron hypothesis revisited
Current Opinion in Neurobiology, 2004Co-Authors: Peter MombaertsAbstract:Abstract Designed for General chemical recognition, the mammalian olfactory system shares many similarities with the immune system. Among these is the popular notion that a single olfactory sensory neuron expresses a single odorant Receptor Gene, while all other ∼1000 Genes of this type remain silent. Here, I examine the evidence supporting the one Receptor–one neuron hypothesis. I conclude that, contrary to widespread belief, it is far from being proven. I propose an hypothesis of a developmental phase of oligogenic expression that is followed by positive and negative selection resulting usually in cells with one expressed Receptor. Curiously, selective processes are well established and widely accepted for lymphocytes, but these concepts are essentially ignored for olfactory sensory neurons, despite the analogies that are frequently made between these two systems. More attention must be paid to odorant Receptor Gene choice and expression during development and neuronal differentiation.
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odorant Receptor Gene choice in olfactory sensory neurons the one Receptor one neuron hypothesis revisited
Current Opinion in Neurobiology, 2004Co-Authors: Peter MombaertsAbstract:Designed for General chemical recognition, the mammalian olfactory system shares many similarities with the immune system. Among these is the popular notion that a single olfactory sensory neuron expresses a single odorant Receptor Gene, while all other approximately 1000 Genes of this type remain silent. Here, I examine the evidence supporting the one Receptor-one neuron hypothesis. I conclude that, contrary to widespread belief, it is far from being proven. I propose an hypothesis of a developmental phase of oligogenic expression that is followed by positive and negative selection resulting usually in cells with one expressed Receptor. Curiously, selective processes are well established and widely accepted for lymphocytes, but these concepts are essentially ignored for olfactory sensory neurons, despite the analogies that are frequently made between these two systems. More attention must be paid to odorant Receptor Gene choice and expression during development and neuronal differentiation.
Mary Jeanne Kreek - One of the best experts on this subject based on the ideXlab platform.
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substantial attributable risk related to a functional mu opioid Receptor Gene polymorphism in association with heroin addiction in central sweden
Molecular Psychiatry, 2004Co-Authors: Gavin Bart, Markus Heilig, K S Laforge, Lotta Pollak, Suzanne M Leal, Jurg Ott, Mary Jeanne KreekAbstract:Substantial attributable risk related to a functional mu-opioid Receptor Gene polymorphism in association with heroin addiction in central Sweden
Philip Asherson - One of the best experts on this subject based on the ideXlab platform.
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a meta analysis and transmission disequilibrium study of association between the dopamine d3 Receptor Gene and schizophrenia
Molecular Psychiatry, 1998Co-Authors: Julie Williams, Gillian Spurlock, Peter Holmans, R Mant, Kieran C Murphy, Lesley Jones, Alastair G Cardno, Philip Asherson, D H R Blackwood, Walter J MuirAbstract:A meta-analysis and transmission disequilibrium study of association between the dopamine D3 Receptor Gene and schizophrenia
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association between schizophrenia and a microsatellite polymorphism at the dopamine d5 Receptor Gene
Psychiatric Genetics, 1997Co-Authors: Nigel Williams, Kieran C Murphy, Lesley Jones, Alastair G Cardno, Philip Asherson, P Mcguffin, Michael John OwenAbstract:An association study of 97 patients with DSM-III-R schizophrenia and 97 matched controls was performed using a polymorphic microsatellite repeat at the dopamine D5 Receptor Gene. We observed a significant difference between the allele frequencies of patients and controls (chi 2 = 23.4, df = 12, p = 0.019). This reflects an excess of allele 4 (140 bp) in the patients when compared with the control sample (chi 2 = 7.087, p < 0.01; odds ratio = 2.98, 95% CI 1.29-6.86). However, this association remains tentative until confirmation in other samples.
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association between schizophrenia and homozygosity at the dopamine d3 Receptor Gene
Journal of Medical Genetics, 1992Co-Authors: M A Crocq, Julie Williams, R Mant, Philip Asherson, Y Hode, A Mayerova, David A Collier, Lars Lannfelt, Pierre Sokoloff, J C SchwartzAbstract:Disturbances in dopamine neurotransmission have been postulated to underlie schizophrenia. We report data from two independent studies of a BalI polymorphism in the dopamine D3 Receptor Gene in patients with schizophrenia. In both studies, more patients than controls were homozygous (p = 0.005, p = 0.008). When pooled data were analysed, this difference was highly significant (p = 0.0001) with a relative risk of schizophrenia in homozygotes of 2.61 (95% confidence intervals 1.60-4.26).
Maria Teresa Landi - One of the best experts on this subject based on the ideXlab platform.
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nucleotide diversity and population differentiation of the melanocortin 1 Receptor Gene mc1r
BMC Genetics, 2008Co-Authors: Sharon A. Savage, Meg R Gerstenblith, Alisa M Goldstein, Maria Concetta Fargnoli, Lisa Mirabello, Ketty Peris, Maria Teresa LandiAbstract:Background The melanocortin 1 Receptor Gene (MC1R) is responsible for normal pigment variation in humans and is highly polymorphic with numerous population-specific alleles. Some MC1R variants have been associated with skin cancer risk.
Dennis B Lubahn - One of the best experts on this subject based on the ideXlab platform.
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estrogen resistance caused by a mutation in the estrogen Receptor Gene in a man
The New England Journal of Medicine, 1994Co-Authors: Eric P Smith, Dennis B Lubahn, Jeff Boyd, Graeme R Frank, Hiroyuki Takahashi, Robert M Cohen, Bonny Specker, Timothy C Williams, Kenneth S KorachAbstract:Background and Methods Mutations in the estrogen-Receptor Gene have been thought to be lethal. A 28-year-old man whose estrogen resistance was caused by a disruptive mutation in the estrogen-Receptor Gene underwent studies of pituitary-gonadal function and bone density and received transdermal estrogen for six months. Estrogen-Receptor DNA, extracted from lymphocytes, was evaluated by analysis of single-strand-conformation polymorphisms and by direct sequencing. Results The patient was tall (204 cm [80.3 in.]) and had incomplete epiphyseal closure, with a history of continued linear growth into adulthood despite otherwise normal pubertal development. He was normally masculinized and had bilateral axillary acanthosis nigricans. Serum estradiol and estrone concentrations were elevated, and serum testosterone concentrations were normal. Serum follicle-stimulating hormone and luteinizing hormone concentrations were increased. Glucose tolerance was impaired, and hyperinsulinemia was present. The bone mineral d...
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alteration of reproductive function but not prenatal sexual development after insertional disruption of the mouse estrogen Receptor Gene
Proceedings of the National Academy of Sciences of the United States of America, 1993Co-Authors: Jeffrey S Moyer, Thomas S Golding, John F Couse, Kenneth S Korach, Dennis B Lubahn, Oliver SmithiesAbstract:Abstract Estrogen Receptor and its ligand, estradiol, have long been thought to be essential for survival, fertility, and female sexual differentiation and development. Consistent with this proposed crucial role, no human estrogen Receptor Gene mutations are known, unlike the androgen Receptor, where many loss of function mutations have been found. We have Generated mutant mice lacking responsiveness to estradiol by disrupting the estrogen Receptor Gene by Gene targeting. Both male and female animals survive to adulthood with normal gross external phenotypes. Females are infertile; males have a decreased fertility. Females have hypoplastic uteri and hyperemic ovaries with no detectable corpora lutea. In adult wild-type and heterozygous females, 3-day estradiol treatment at 40 micrograms/kg stimulates a 3- to 4-fold increase in uterine wet weight and alters vaginal cornification, but the uteri and vagina do not respond in the animals with the estrogen Receptor Gene disruption. Prenatal male and female reproductive tract development can therefore occur in the absence of estradiol Receptor-mediated responsiveness.
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androgen Receptor Gene mutations in x linked spinal and bulbar muscular atrophy
Nature, 1991Co-Authors: Albert R La Spada, Dennis B Lubahn, Elizabeth M Wilson, A E Harding, Kenneth H FischbeckAbstract:X-LINKED spinal and bulbar muscular atrophy (Kennedy's disease) is an adult-onset form of motorneuron disease which may be associated with signs of androgen insensitivity. We have now investigated whether the androgen Receptor Gene on the proximal long arm of the X chromosome is a candidate Gene for this disease. In patient samples we found androgen Receptor Gene mutations with increased size of a polymorphic tandem CAG repeat in the coding region. These amplified repeats were absolutely associated with the disease, being present in 35 unrelated patients and none of 75 controls. They segregated with the disease in 15 families, with no recombination in 61 meioses (the maximum log likelihood ratio (lod score) is 13.2 at a recombination rate of 0). The association is unlikely to be due to linkage disequilibrium, because 11 different disease alleles were observed. We conclude that enlargement of the CAG repeat in the androgen Receptor Gene is probably the cause of this disorder.