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Year Number of Results
1818 1
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1822 1
1825 1
1826 1
1827 1
1831 3
1840 1
1843 1
1844 3
1847 2
1848 1
1849 2
1850 2
1854 1
1856 1
1857 1
1859 1
1861 1
1866 1
1867 5
1868 2
1872 1
1873 2
1874 4
1875 1
1876 1
1877 1
1879 3
1880 1
1883 3
1886 1
1887 3
1888 2
1891 3
1893 1
1894 3
1895 2
1896 1
1897 2
1898 4
1899 4
1900 1
1901 1
1902 2
1903 3
1904 2
1905 3
1906 1
1907 6
1908 3
1909 9
1910 3
1911 8
1912 7
1913 8
1914 3
1915 3
1916 3
1917 4
1918 7
1919 3
1920 9
1921 9
1922 9
1923 7
1924 6
1925 8
1926 10
1927 15
1928 13
1929 11
1930 8
1931 9
1932 13
1933 12
1934 12
1935 14
1936 16
1937 10
1938 9
1939 10
1940 11
1941 11
1942 15
1943 6
1944 4
1945 23
1946 68
1947 70
1948 84
1949 112
1950 108
1951 162
1952 175
1953 188
1954 157
1955 176
1956 165
1957 182
1958 197
1959 161
1960 195
1961 214
1962 250
1963 299
1964 322
1965 324
1966 393
1967 417
1968 451
1969 496
1970 521
1971 585
1972 664
1973 655
1974 735
1975 2519
1976 2775
1977 2641
1978 2685
1979 2973
1980 3403
1981 3535
1982 3774
1983 4552
1984 5021
1985 5164
1986 5447
1987 5750
1988 6362
1989 7556
1990 8042
1991 8214
1992 8834
1993 9144
1994 9863
1995 10383
1996 10980
1997 11431
1998 12114
1999 12894
2000 14471
2001 15283
2002 16800
2003 17867
2004 19663
2005 22335
2006 24603
2007 26227
2008 28009
2009 29532
2010 32168
2011 35698
2012 38429
2013 41069
2014 43318
2015 44933
2016 46021
2017 48475
2018 51780
2019 55155
2020 62175
2021 67445
2022 67783
2023 65663
2024 69403
2025 76921
2026 48727
2027 2

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1,156,636 results

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Page 1
Modifier genes for sudden cardiac death.
Schwartz PJ, Crotti L, George AL Jr. Schwartz PJ, et al. Eur Heart J. 2018 Nov 21;39(44):3925-3931. doi: 10.1093/eurheartj/ehy502. Eur Heart J. 2018. PMID: 30215713 Free PMC article. Review.
One widely accepted explanation for this phenomenon is the existence of genetic factors capable of modifying the consequences of disease-causing mutations (modifier genes). Here, we address the concepts and principles by which genetic factors may be involved in m
One widely accepted explanation for this phenomenon is the existence of genetic factors capable of modifying the consequences of dise …
Modifier genes and their effect on Duchenne muscular dystrophy.
Vo AH, McNally EM. Vo AH, et al. Curr Opin Neurol. 2015 Oct;28(5):528-34. doi: 10.1097/WCO.0000000000000240. Curr Opin Neurol. 2015. PMID: 26263473 Free PMC article. Review.
RECENT FINDINGS: Modifiers have been identified using combinations of transcriptome and genome profiling. ...SUMMARY: Genetic modifiers can serve as biomarkers for outcomes in DMD. Modifiers can alter strength and ambulation in muscular dystrophy, and these s …
RECENT FINDINGS: Modifiers have been identified using combinations of transcriptome and genome profiling. ...SUMMARY: Genetic modi
Susceptibility and disease modifier genes in amyotrophic lateral sclerosis: from genetic associations to therapeutic implications.
Willemse SW, van Es MA. Willemse SW, et al. Curr Opin Neurol. 2023 Aug 1;36(4):365-370. doi: 10.1097/WCO.0000000000001178. Epub 2023 Jun 14. Curr Opin Neurol. 2023. PMID: 37338820 Free PMC article. Review.
RECENT FINDINGS: The emergence of techniques that allow the specific therapeutic targeting of a (mutant) gene, in particular antisense oligonucleotide therapy (ASOs), have led to the first successful gene therapy for SOD1-ALS and multiple other gene-targeted trials are underway. …
RECENT FINDINGS: The emergence of techniques that allow the specific therapeutic targeting of a (mutant) gene, in particular antisense oligo …
Modifier genes in SCN1A-related epilepsy syndromes.
de Lange IM, Mulder F, van 't Slot R, Sonsma ACM, van Kempen MJA, Nijman IJ, Ernst RF, Knoers NVAM, Brilstra EH, Koeleman BPC. de Lange IM, et al. Mol Genet Genomic Med. 2020 Apr;8(4):e1103. doi: 10.1002/mgg3.1103. Epub 2020 Feb 7. Mol Genet Genomic Med. 2020. PMID: 32032478 Free PMC article.
BACKGROUND: SCN1A is one of the most important epilepsy-related genes, with pathogenic variants leading to a range of phenotypes with varying disease severity. Different modifying factors have been hypothesized to influence SCN1A-related phenotypes. We investigate the pres …
BACKGROUND: SCN1A is one of the most important epilepsy-related genes, with pathogenic variants leading to a range of phenotypes with varyin …
Signalling mechanisms and cellular functions of SUMO.
Vertegaal ACO. Vertegaal ACO. Nat Rev Mol Cell Biol. 2022 Nov;23(11):715-731. doi: 10.1038/s41580-022-00500-y. Epub 2022 Jun 24. Nat Rev Mol Cell Biol. 2022. PMID: 35750927 Review.
Sumoylation is an essential post-translational modification that is catalysed by a small number of modifying enzymes but regulates thousands of target proteins in a dynamic manner. Small ubiquitin-like modifiers (SUMOs) can be attached to target proteins as one or m …
Sumoylation is an essential post-translational modification that is catalysed by a small number of modifying enzymes but regulates th …
Ari Sadanandom.
[No authors listed] [No authors listed] New Phytol. 2024 Feb;241(4):1401-1403. doi: 10.1111/nph.19406. Epub 2023 Nov 23. New Phytol. 2024. PMID: 37994165 Free article. No abstract available.
Prenatal Diet as a Modifier of Environmental Risk Factors for Autism and Related Neurodevelopmental Outcomes.
Bragg M, Chavarro JE, Hamra GB, Hart JE, Tabb LP, Weisskopf MG, Volk HE, Lyall K. Bragg M, et al. Curr Environ Health Rep. 2022 Jun;9(2):324-338. doi: 10.1007/s40572-022-00347-7. Epub 2022 Mar 19. Curr Environ Health Rep. 2022. PMID: 35305256 Free PMC article. Review.
PURPOSE OF REVIEW: Environmental chemicals and toxins have been associated with increased risk of impaired neurodevelopment and specific conditions like autism spectrum disorder (ASD). Prenatal diet is an individually modifiable factor that may alter associations with such …
PURPOSE OF REVIEW: Environmental chemicals and toxins have been associated with increased risk of impaired neurodevelopment and specific con …
Complex modifier landscape underlying genetic background effects.
Hou J, Tan G, Fink GR, Andrews BJ, Boone C. Hou J, et al. Proc Natl Acad Sci U S A. 2019 Mar 12;116(11):5045-5054. doi: 10.1073/pnas.1820915116. Epub 2019 Feb 25. Proc Natl Acad Sci U S A. 2019. PMID: 30804202 Free PMC article.
Here, in addition to confirming that some conditional essential genes are modified by a nonchromosomal element, we show that most cases involve a complex set of genomic modifiers. ...For a smaller subset of genes, including CYS3 and CYS4, each of which encodes compo …
Here, in addition to confirming that some conditional essential genes are modified by a nonchromosomal element, we show that most cas …
Modifier genes in Mendelian disorders: the example of cystic fibrosis.
Cutting GR. Cutting GR. Ann N Y Acad Sci. 2010 Dec;1214:57-69. doi: 10.1111/j.1749-6632.2010.05879.x. Ann N Y Acad Sci. 2010. PMID: 21175684 Free PMC article. Review.
While the identification of such genetic variants has informed our knowledge of the etiologic bases of diseases, there continues to be a substantial gap in our understanding of the factors that modify disease severity. Monogenic diseases provide an opportunity to identify …
While the identification of such genetic variants has informed our knowledge of the etiologic bases of diseases, there continues to be a sub …
FAN1, a DNA Repair Nuclease, as a Modifier of Repeat Expansion Disorders.
Deshmukh AL, Porro A, Mohiuddin M, Lanni S, Panigrahi GB, Caron MC, Masson JY, Sartori AA, Pearson CE. Deshmukh AL, et al. J Huntingtons Dis. 2021;10(1):95-122. doi: 10.3233/JHD-200448. J Huntingtons Dis. 2021. PMID: 33579867 Free PMC article. Review.
Fan1 is required to suppress against high levels of ongoing somatic CAG and CGG repeat expansions in tissues of HD and FMR1 transgenic mice respectively, in addition to participating in DNA interstrand crosslink repair. FAN1 is also a modifier of autism, schizophrenia, and …
Fan1 is required to suppress against high levels of ongoing somatic CAG and CGG repeat expansions in tissues of HD and FMR1 transgenic mice …
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