A novel moesin-, ezrin-, radixin-like gene is a candidate for the neurofibromatosis 2 tumor suppressor
Article Abstract:
The identification of a candidate gene for neurofibromatosis 2 (NF2), a dominantly inherited disorder characterized by the occurrence of bilateral schwannomas and other central nervous system tumors such as multiple meningiomas, is reported. Previous studies have suggested the inactivation of a tumor suppressor gene in choromosome 22q12 as a potential cause of the disorder. The candidate NF2 gene encodes a 587-amino acid protein which is related to the membrane-organizing extension spike protein-ezrin-radixin family of proteins that link cytoskeletal proteins with proteins in the cell membrane.
author: Haines, Jonathan L., Martuza, Robert L., Parry, Dilys M., Trofatter, James A., Gusella, James F., Seizinger, Bernd R., MacCollin, Mia M., Rutter, Joni L., Murrell, Jill R., Duyao, Mabel P., Eldtidge, Roswell, Kley, Nikolai, Menon, Anil G., Pulaski, karen, Haase, Volker H., Ambrose, Christine M., Munroe, David, Bove, Catherine, MacDonald, Marcy E., Short, M. Priscilla, Buckler, Alan J.
Publisher: Elsevier B.V.
Publication Name: Cell
Subject: Biological sciences
ISSN: 0092-8674
Year: 1993
Identification and classification, Tumor suppressor genes, Neurofibromatosis
Mapping of the mucolipidosis type IV gene to chromosome 19p and definition of founder haplotypes
Article Abstract:
The mucolipidosis type IV (MLIV) gene has been mapped to chromosome 19p using linkage analysis with 15 markers in 13 families, and this fact, with definition of founder haplotypes, is discussed. MLIV is a rare autosomal recessive disease and a lysosomal storage disorder involving severe neurologic and ophthalmologic abnormalities. The majority of those diagnosed with it so far are of Ashkenazi Jewish descent and genetic prenatal diagnosis will now be possible in affected families.
author: Schiffmann, Raphael, Gusella, James F., Bove, Catherine, Acierno, James S., Jr., Slaugenhaupt, Susan A., Helbling, Lisa Anne, Goldin, Ehud, Bach, Gideon
Publisher: University of Chicago Press
Publication Name: American Journal of Human Genetics
Subject: Biological sciences
ISSN: 0002-9297
Year: 1999
United States, Israel, Statistical Data Included, Usage, Abnormalities, Diseases, Chromosome mapping, Lysosomes, Neurology, Familial diseases, Ashkenazim
Disruption of neurexin 1 associated with autism spectrum disorder
Article Abstract:
Two independent subjects that display an autism spectrum disorder (ASD) in association with a balanced chromosomal abnormality involving 2p16.3 are studied to implicate the neurexin 1 (NRXN1) gene. It is suggested that subtle changes in NRXN1 contribute to susceptibility to ASD.
author: Pauls, David L., Klin, Ami, Harris, David J., Gusella, James F., Morton, Cynthia C., MacDonald, Marcy E., Volkmar, Fred, Quade, Bradley J., Daly, Mark J., Hyung-Goo Kim, Weiss, Lauren A., Kishikawa, Shotaro, Higgins, Anne W., Ihn-Sik Seong, Donovan, Diana J., Yiping Shen, Lally, Eric, Najm, Juliane, Kutsche, Kerstin, Descartes, Maria, Holt, Lynn, Braddock, Stephen, Troxell, Robin, Kaplan, Lee, Tsatsanis, Katherine, Noens, Ilse
Publisher: University of Chicago Press
Publication Name: American Journal of Human Genetics
Subject: Biological sciences
ISSN: 0002-9297
Year: 2008
Science & research, Health aspects, Autism, Chromosome abnormalities
subjects list: Genetic aspects, Research, Genetic disorders
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