Zobrazeno 1 - 10
of 342
pro vyhledávání: '"M. H. Polymeropoulos"'
Autor:
Raman, Kannan1 (AUTHOR), Kalirajan, Rajagopal1 (AUTHOR) rkalirajan@jssuni.edu.in, Islam, Fahadul2 (AUTHOR), Jupudi, Srikanth1 (AUTHOR), Selvaraj, Divakar1 (AUTHOR), Swaminathan, Gomathi1 (AUTHOR), Singh, Laliteshwar Pratap3 (AUTHOR), Rana, Ritesh4 (AUTHOR), Akash, Shopnil2 (AUTHOR), Islam, Md. Rezaul2 (AUTHOR), Nainu, Firzan5 (AUTHOR), Emran, Talha Bin2,6 (AUTHOR), Dawoud, Turki M.7 (AUTHOR), Bourhia, Mohammed8 (AUTHOR) bourhiamohammed@gmail.com, Dauelbait, Musaab9 (AUTHOR), Barua, Rashu10 (AUTHOR)
Publikováno v:
ChemistryOpen. Oct2024, Vol. 13 Issue 10, p1-18. 18p.
Autor:
Sternke‐Hoffmann, Rebecca1 (AUTHOR), Sun, Xun1 (AUTHOR), Menzel, Andreas2 (AUTHOR), Pinto, Miriam Dos Santos1 (AUTHOR), Venclovaite, Urte1 (AUTHOR), Wördehoff, Michael3 (AUTHOR), Hoyer, Wolfgang3 (AUTHOR), Zheng, Wenwei4 (AUTHOR) wenweizheng@asu.edu, Luo, Jinghui1 (AUTHOR) Jinghui.luo@psi.ch
Publikováno v:
Advanced Science. 9/11/2024, Vol. 11 Issue 34, p1-15. 15p.
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
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
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
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
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
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
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
Autor:
Li, Yiwei1,2 (AUTHOR), Ren, Hong‐Xia3 (AUTHOR), Chi, Chong‐Yung2 (AUTHOR), Miao, Yang‐Bao1 (AUTHOR) miaoyangbao@uestc.edu.cn
Publikováno v:
Advanced Science. 6/19/2024, Vol. 11 Issue 23, p1-14. 14p.