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The GPR54 gene as a regulator of puberty.
Mutations in GPR54, a G protein-coupled receptor gene, cause autosomal recessive idiopathic hypogonadotropic hypogOnadism in humans and mice, suggesting that this receptor is essential for normal gonadotropin-releasing hormone physiology and for puberty.
The GPR54 Gene as a Regulator of Puberty
Puberty is initiated when gonadotropin-releasing hormone begins to be secreted by the hypothalamus, and complementary genetic approaches in humans and mice identified genetic factors that determine the onset of puberty.
A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington's disease chromosomes
Molecular characterization of a second melatonin receptor expressed in human retina and brain: the Mel1b melatonin receptor.
- S. Reppert, C. Godson, C. D. Mahle, D. Weaver, S. Slaugenhaupt, J. Gusella
- BiologyProceedings of the National Academy of Sciences…
- 12 September 1995
The Mel1b melatonin receptor may mediate the reported actions of melatonin in retina and participate in some of the neurobiological effects ofmelatonin in mammals.
The early-onset torsion dystonia gene (DYT1) encodes an ATP-binding protein
The DYT1 gene on human chromosome 9q34 is identified as being responsible for early-onset torsion dystonia, a movement disorder, characterized by twisting muscle contractures, that begins in childhood.
Association of apolipoprotein E allele epsilon 4 with late-onset familial and sporadic Alzheimer's disease.
Data support the involvement of ApoE epsilon 4 in the pathogenesis of late-onset familial and sporadic AD and suggest it may operate as a susceptibility gene (risk factor) for the clinical expression of AD.
CAG repeat number governs the development rate of pathology in Huntington's disease
The results imply that striatal damage in Huntington's disease is almost entirely a lineaar function of the length of the polyglutamine stretch beyond 35.5 repeats, and it is predicted that the pathological process develops linearly from birth.
Association between microdeletion and microduplication at 16p11.2 and autism.
A novel, recurrent microdeletion and a reciprocal microduplication that carry substantial susceptibility to autism and appear to account for approximately 1% of cases are identified.
A single nucleotide polymorphism in the matrix metalloproteinase-1 promoter creates an Ets binding site and augments transcription.
This MMP-1 polymorphism contributes to increased transcription, and cells expressing the 2 G polymorphism may provide a mechanism for more aggressive matrix degradation, thereby facilitating cancer progression.