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Results by year

Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1962 1
1965 1
1968 1
1971 1
1974 2
1975 1
1976 1
1977 2
1978 3
1979 1
1981 6
1982 7
1983 10
1984 8
1985 8
1986 5
1987 2
1988 3
1989 2
1990 4
1991 3
1992 3
1993 17
1994 8
1995 5
1996 7
1997 1
1998 5
1999 7
2000 5
2001 3
2002 12
2003 10
2004 3
2005 8
2006 12
2007 11
2008 13
2009 9
2010 8
2011 4
2012 6
2013 13
2014 5
2015 2
2017 1
2019 1
2022 2
2024 0

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Article attribute

Article type

Publication date

PubMed (OMIM) for id: 3265

241 results

Results by year

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Page 1
HRAS germline mutations impair LKB1/AMPK signaling and mitochondrial homeostasis in Costello syndrome models.
Dard L, Hubert C, Esteves P, Blanchard W, Bou About G, Baldasseroni L, Dumon E, Angelini C, Delourme M, Guyonnet-Dupérat V, Claverol S, Fontenille L, Kissa K, Séguéla PE, Thambo JB, Nicolas L, Herault Y, Bellance N, Dias Amoedo N, Magdinier F, Sorg T, Lacombe D, Rossignol R. Dard L, et al. J Clin Invest. 2022 Apr 15;132(8):e131053. doi: 10.1172/JCI131053. J Clin Invest. 2022. PMID: 35230976 Free PMC article.
Hyperactive HRAS dysregulates energetic metabolism in fibroblasts from patients with Costello syndrome via enhanced production of reactive oxidizing species.
Carpentieri G, Leoni C, Pietraforte D, Cecchetti S, Iorio E, Belardo A, Pietrucci D, Di Nottia M, Pajalunga D, Megiorni F, Mercurio L, Tatti M, Camero S, Marchese C, Rizza T, Tirelli V, Onesimo R, Carrozzo R, Rinalducci S, Chillemi G, Zampino G, Tartaglia M, Flex E. Carpentieri G, et al. Hum Mol Genet. 2022 Feb 21;31(4):561-575. doi: 10.1093/hmg/ddab270. Hum Mol Genet. 2022. PMID: 34508588
Costello syndrome: Clinical phenotype, genotype, and management guidelines.
Gripp KW, Morse LA, Axelrad M, Chatfield KC, Chidekel A, Dobyns W, Doyle D, Kerr B, Lin AE, Schwartz DD, Sibbles BJ, Siegel D, Shankar SP, Stevenson DA, Thacker MM, Weaver KN, White SM, Rauen KA. Gripp KW, et al. Am J Med Genet A. 2019 Sep;179(9):1725-1744. doi: 10.1002/ajmg.a.61270. Epub 2019 Jun 20. Am J Med Genet A. 2019. PMID: 31222966 Free PMC article.
Activating HRAS mutation in nevus spilus.
Sarin KY, McNiff JM, Kwok S, Kim J, Khavari PA. Sarin KY, et al. J Invest Dermatol. 2014 Jun;134(6):1766-1768. doi: 10.1038/jid.2014.6. Epub 2014 Jan 3. J Invest Dermatol. 2014. PMID: 24390138 Free article. No abstract available.
Somatic HRAS p.G12S mutation causes woolly hair and epidermal nevi.
Levinsohn JL, Teng J, Craiglow BG, Loring EC, Burrow TA, Mane SS, Overton JD, Lifton RP, McNiff JM, Lucky AW, Choate KA. Levinsohn JL, et al. J Invest Dermatol. 2014 Apr;134(4):1149-1152. doi: 10.1038/jid.2013.430. Epub 2013 Oct 15. J Invest Dermatol. 2014. PMID: 24129065 Free PMC article. No abstract available.
Whole-genome and whole-exome sequencing of bladder cancer identifies frequent alterations in genes involved in sister chromatid cohesion and segregation.
Guo G, Sun X, Chen C, Wu S, Huang P, Li Z, Dean M, Huang Y, Jia W, Zhou Q, Tang A, Yang Z, Li X, Song P, Zhao X, Ye R, Zhang S, Lin Z, Qi M, Wan S, Xie L, Fan F, Nickerson ML, Zou X, Hu X, Xing L, Lv Z, Mei H, Gao S, Liang C, Gao Z, Lu J, Yu Y, Liu C, Li L, Fang X, Jiang Z, Yang J, Li C, Zhao X, Chen J, Zhang F, Lai Y, Lin Z, Zhou F, Chen H, Chan HC, Tsang S, Theodorescu D, Li Y, Zhang X, Wang J, Yang H, Gui Y, Wang J, Cai Z. Guo G, et al. Nat Genet. 2013 Dec;45(12):1459-63. doi: 10.1038/ng.2798. Epub 2013 Oct 13. Nat Genet. 2013. PMID: 24121792 Free PMC article.
241 results