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The GPR54 Gene as a Regulator of Puberty
Background Puberty, a complex biologic process involving sexual development, accelerated linear growth, and adrenal maturation, is initiated when gonadotropin-releasing hormone begins to be secreted… Expand
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
- Biology, Medicine
- Proceedings of the National Academy of Sciences…
- 12 September 1995
A G protein-coupled receptor for the pineal hormone melatonin was recently cloned from mammals and designated the Mel1a melatonin receptor. We now report the cloning of a second G protein-coupled… Expand
The early-onset torsion dystonia gene (DYT1) encodes an ATP-binding protein
Early-onset torsion dystonia is a movement disorder, characterized by twisting muscle contractures, that begins in childhood. Symptoms are believed to result from altered neuronal communication in… Expand
Association of apolipoprotein E allele epsilon 4 with late-onset familial and sporadic Alzheimer's disease.
Apolipoprotein E, type epsilon 4 allele (APOE epsilon 4), is associated with late-onset familial Alzheimer's disease (AD). There is high avidity and specific binding of amyloid beta-peptide with the… Expand
The GPR54 gene as a regulator of puberty.
- S. Seminara, S. Messager, +17 authors W. Colledge
- The New England journal of medicine
- 1 May 2004
BACKGROUND Puberty, a complex biologic process involving sexual development, accelerated linear growth, and adrenal maturation, is initiated when gonadotropin-releasing hormone begins to be secreted… Expand
CAG repeat number governs the development rate of pathology in Huntington's disease
- J. Penney, J. Vonsattel, M. MacDonald, J. Gusella, R. Myers
- Psychology, Medicine
- Annals of neurology
- 1 May 1997
We compared the number of CAG repeats, the age at death, and the severity of neuropathology in 89 Huntington's disease brains. We found a linear correlation between the CAG repeat number and the… Expand
A single nucleotide polymorphism in the matrix metalloproteinase-1 promoter creates an Ets binding site and augments transcription.
Matrix metalloproteinases (MMPs) facilitate cellular invasion by degrading the extracellular matrix, and their regulation is partially dependent on transcription. Binding sites for members of the Ets… Expand
Association between microdeletion and microduplication at 16p11.2 and autism.
BACKGROUND Autism spectrum disorder is a heritable developmental disorder in which chromosomal abnormalities are thought to play a role. METHODS As a first component of a genomewide association… Expand
Inactivation of the mouse Huntington's disease gene homolog Hdh.
Huntington's disease (HD) is a dominant neurodegenerative disorder caused by expansion of a CAG repeat in the gene encoding huntingtin, a protein of unknown function. To distinguish between "loss of… Expand
Tissue-specific expression of a splicing mutation in the IKBKAP gene causes familial dysautonomia.
- S. Slaugenhaupt, A. Blumenfeld, +15 authors J. Gusella
- Biology, Medicine
- American journal of human genetics
- 1 March 2001
Familial dysautonomia (FD; also known as "Riley-Day syndrome"), an Ashkenazi Jewish disorder, is the best known and most frequent of a group of congenital sensory neuropathies and is characterized by… Expand