A-Z Articles Index by First Author's Last Name |
Kalkhoven E et al. Loss of CBP acetyltransferase activity by PHD finger mutations in Rubinstein-Taybi syndrome. Hum Mol Genet 2003;12(4):441-450. |
Kalkhoven E et al. The PHD type zinc finger is an integral part of the CBP acetyltransferase domain. Mol Cell Biol 2002;22(7):1961-1970. |
Kansas HB 2380, The Child Rape Protection Act (enacted, April 14, 2005) |
Kasahara M. et al. Chromosomal duplication and the emergence of the adaptive immune system. Trends Genet. 1997;13:90-92. |
Kass NE, et al. Access to health insurance: Experiences and attitudes of those with genetic versus non-genetic medical conditions. Am J Med Genet A. 2007 Apr 1;143(7):707-17. |
Kerem E et al. Effectiveness of PTC124 treatment of cystic fibrosis caused by nonsense mutations: a prospective phase II trial. Lancet. 2008 Aug 30;372(9640):719-27. Epub 2008 Aug 20. |
Keyser B et al. Disease-causing missense mutations affect enzymatic activity, stability and oligomerization of glutaryl-CoA dehydrogenase (GCDH). Hum Mol Genet. 2008 Dec 15;17(24):3854-63. Epub 2008 Sep 5. |
Kiepiela P et al. Dominant influence of HLA-B in mediating the potential co-evolution of HIV and HLA. Nature. 2004 Dec 9;432(7018):769-75. |
Kikkawa Y et al. Mutations in a new scaffold protein Sans cause deafness in Jackson shaker mice. Hum Mol Genet 2003;12(5):453-461. |
Kim HG et al. Mutations in CHD7, encoding a chromatin-remodeling protein, cause idiopathic hypogonadotropic hypogonadism and Kallmann syndrome. Am J Hum Genet. 2008 Oct;83(4):511-9. Epub 2008 Oct 2. |
Kim J et al. A MicroRNA feedback circuit in midbrain dopamine neurons. Science. 2007 Aug 31;317(5842):1220-4. |
Kim RB et al. Identification of functionally variant MDR1 alleles among European Americans and African Americans. Clin Pharmacol Ther. 2001 Aug;70(2):189-99. |
Kim S et al. Polyglutamine protein aggregates are dynamic. Nat Cell Biol. 2002;4:826-31. PMID:12399596 [PubMed-in process]. |
Kiss T., (2002) Small nucleolar RNAs: an abundant group of noncoding RNAs with diverse cellular functions. Cell 109:145-148 |
Kleefstra T et al. Loss-of-function mutations in euchromatin histone methyl transferase 1 (EHMT1) cause the 9q34 subtelomeric deletion syndrome. 2006. Am. J. Hum. Genet. 79: 370-377 |
Kondo S et. al. Mutations in IRF6 cause Van der Woude and popliteal pterygium syndromes. Nat Genet 2002 Oct;32:285-9. |
Konishi et al.(2003) Involvement of Histone H1.2 in Apoptosis Induced by DNA Double-Strand Breaks. Cell. 2003 Sep 19;114(6):673-88. |
Koolen DA, et al. A new chromosome 17q21.31 microdeletion syndrome associated with a common inversion polymorphism. Nat Genet. 2006 Sep;38(9):999-1001. |
Koyabu Y et al. Physical and functional interactions between Zic and Gli proteins. J Biol Chem. 2001 Mar 9;276(10):6889-92. Epub 2001 Jan 12. |
Koza RA et al. Synergistic gene interactions control the induction of the mitochondrial uncoupling protein (Ucp1) gene in white fat tissue. J Biol Chem. 2000 Nov 3;275(44):34486-34492 |
Krantz ID et al., Cornelia de Lange syndrome is caused by mutations in NIPBL, the human homolog of Drosophila melanogaster Nipped-B. Nat Genet. 2004 Jun;36(6):631-5. Epub 2004 May 16. |
Kroemer G. Mitochondria in cancer. Oncogene. 2006 Aug 7;25(34):4630-2. |
Krutzfeldt J et al. Silencing of microRNAs in vivo with 'antagomirs' Nature. 2005 Oct 30; [Epub ahead of print] |
Kurotaki N et al. Haploinsufficiency of NSD1 causes Sotos syndrome. Nat Genet 2002;30:365-366. |
Kwan KY et al. TRPA1 Contributes to Cold, Mechanical, and Chemical Nociception but Is Not Essential for Hair-Cell Transduction. Neuron. 2006 Apr 20;50(2):277-89. |
Kyndt F et al. Mutations in the gene encoding filamin A as a cause for familial cardiac valvular dystrophy. Circulation. 2007 Jan 2;115(1):40-9. Epub 2006 Dec 26. |
Kyttala M et al. MKS1, encoding a component of the flagellar apparatus basal body proteome, is mutated in Meckel syndrome. Nat Genet. 2006 Jan 15; [Epub ahead of print] |