Zobrazeno 1 - 10
of 29
pro vyhledávání: '"M. H. Polymeropoulos"'
Autor:
Eva Mezey, Theresa A. Young, P. Hemachandra Reddy, Michael J. Brownstein, M H Polymeropoulos, Anindya Dehejia, Vinod Charles, Danilo A. Tagle
Publikováno v:
Neuroscience Letters. 289:29-32
Polyglutamine expansions in proteins are implicated in at least eight inherited neurodegenerative disorders, including Huntington's disease. These mutant proteins can form aggregates within the nucleus and processes of neurons possibly due to misfold
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::72ecc73f8bc286f24a44c7975c46f031
https://doi.org/10.1016/s0304-3940(00)01247-7
https://doi.org/10.1016/s0304-3940(00)01247-7
Autor:
Elisabeth Leroy, Spiridon Konitsiotis, M. H. Polymeropoulos, Dimitri Anastasopoulos, Christian Lavedan
Publikováno v:
Human Genetics. 103:424-427
Parkinson's disease is the second most common neurodegenerative disease after Alzheimer's disease and is manifested as a movement disorder. A positive family history is the second most important risk factor for developing the illness, after age. Both
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5c8de406e2f4a64c062d68f1dd49f21a
https://doi.org/10.1007/s004390050845
https://doi.org/10.1007/s004390050845
Publikováno v:
Molecular Psychiatry. 3:86-91
Identification of specific genes that predispose to psychiatric illness will lead to more precise psychiatric diagnosis and more effective treatment. Heterozygous carriers of genes for many autosomal recessive syndromes may be 1% or more of the gener
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::07d9dc2f4822a4b378f5f45ab5f861f0
https://doi.org/10.1038/sj.mp.4000344
https://doi.org/10.1038/sj.mp.4000344
Autor:
Rivka Carmi, Laura Liscum, Marcella E. Comly, Christine R. Kaneski, Marsha Zeigler, Adele Cooney, Roscoe O. Brady, Yiannis A. Ioannou, Peter G. Pentchev, Marc C. Patterson, James W. Nagle, E. Joan Blanchette-Mackie, Maureen E. Higgins, David B. Krizman, J Sokol, Raymond R. O'Neill, Jill A. Morris, Jerome F. Strauss, Stephen L. Sturley, Christiano Cummings, O. P. van Diggelen, Ta-Yuan Chang, Edward B. Neufeld, Danilo A. Tagle, Katherine G. Coleman, Jessie Z. Gu, Kousaku Ohno, Stacie K. Loftus, M H Polymeropoulos, Nancy K. Dwyer, David Markie, Melissa A. Rosenfeld, Marie T. Vanier, Anthony Brown, Eugene D. Carstea, Milan Elleder, Dana Zhang, William J. Pavan
Publikováno v:
Science, 277, 228-231. American Association for the Advancement of Science
Niemann-Pick type C (NP-C) disease, a fatal neurovisceral disorder, is characterized by lysosomal accumulation of low density lipoprotein (LDL)–derived cholesterol. By positional cloning methods, a gene (NPC1)with insertion, deletion, and missense
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5537b8141c320370b8c9c9951d5ad1a0
https://doi.org/10.1126/science.277.5323.228
https://doi.org/10.1126/science.277.5323.228
Autor:
S. Basnet, J. Rubenstein, K. Lane, Robert F. Spetzler, M. H. Polymeropoulos, Daniele Rigamonti, Frank P.K. Hsu, Orest Hurko, H. Dietz
Publikováno v:
Neurology. 48:752-757
Article abstract-Objective: To determine with greater precision the map location of the locus associated with familial cavernous hemangiomas. Background: Cavernous malformations of the brain are a significant cause of seizures, progressive or apoplec
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8577503e39227d0642802ef835194aec
https://doi.org/10.1212/wnl.48.3.752
https://doi.org/10.1212/wnl.48.3.752
Publikováno v:
Genome Research. 6:187-194
The CAS (cellular apoptosis susceptibility) gene is the human homolog of the yeast chromosome segregation gene CSE1. CAS may have a dual function in mammalian cells, one in apoptosis and another in cell proliferation. We have now mapped the CAS gene
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8f3d28567a4c064aa7857c79b6a9ec54
https://doi.org/10.1101/gr.6.3.187
https://doi.org/10.1101/gr.6.3.187
Autor:
Leonard D. Kohn, Koichi Yano, Gordon B. Cutler, A Okuno, A Hidaka, M H Polymeropoulos, Motoyasu Saji
Publikováno v:
The Journal of Clinical Endocrinology & Metabolism. 79:1818-1823
Familial male-limited precocious puberty (FMPP) is an autosomal dominant disorder characterized by marked elevation of serum testosterone despite low levels of gonadotropin. Recently, a single point mutation in the LH/hCG receptor (LH/CGR) gene was f
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ec7b70e5bc71204ebd015bf8c3dfe400
https://doi.org/10.1210/jcem.79.6.7527413
https://doi.org/10.1210/jcem.79.6.7527413
Autor:
M H Polymeropoulos, Sevilla D. Detera-Wadleigh, M T Vanier, Colette C. Parker, E D Carstea, Richard E. Straub, Hua Xiao, M. C. Patterson, Ehud Goldin, Raymond R. O'Neill
Publikováno v:
Proceedings of the National Academy of Sciences. 90:2002-2004
We analyzed the involvement of chromosome 18 in Niemann-Pick disease type C (NPC), an autosomal recessive cholesterol-processing disorder. Within affected offspring, the chromosome 18 parental contributions were identified by using allele-specific mi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::55c7e3832ad9c2aa5c8cfc9706083f51
https://doi.org/10.1073/pnas.90.5.2002
https://doi.org/10.1073/pnas.90.5.2002
Autor:
C, Lavedan, S, Buchholtz, G, Auburger, R L, Albin, A, Athanassiadou, J, Blancato, J A, Burguera, R E, Ferrell, V, Kostic, E, Leroy, B, Leube, L, Mota-Vieira, T, Papapetropoulos, M A, Pericak-Vance, J, Pinkus, W K, Scott, G, Ulm, J, Vasconcelos, J J, Vilchez, R L, Nussbaum, M H, Polymeropoulos
Publikováno v:
DNA research : an international journal for rapid publication of reports on genes and genomes. 5(6)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::8ac14961bb243b3599c0354363411158
https://pubmed.ncbi.nlm.nih.gov/10048491
https://pubmed.ncbi.nlm.nih.gov/10048491
Autor:
Anindya Dehejia, Robert L. Nussbaum, Michael J. Brownstein, M H Polymeropoulos, N Tresser, Eva Mezey, Sharon F. Suchy, G Harta
Publikováno v:
Molecular psychiatry. 3(6)
A missense mutation in the human alpha synuclein gene was recently identified in some cases of familial Parkinson's disease (FPD). We have developed an antibody that recognizes the C-terminal 12 amino acids of the human alpha synuclein protein and ha
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::421fd20e9a317fc81480110538b9a1fb
https://pubmed.ncbi.nlm.nih.gov/9857966
https://pubmed.ncbi.nlm.nih.gov/9857966