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

Year Number of Results
1972 1
1974 1
1975 1
1977 7
1978 43
1979 33
1980 45
1981 65
1982 82
1983 97
1984 100
1985 109
1986 107
1987 165
1988 234
1989 312
1990 455
1991 796
1992 865
1993 948
1994 1092
1995 1399
1996 1607
1997 2008
1998 2336
1999 2897
2000 3269
2001 3448
2002 3605
2003 3846
2004 4314
2005 5018
2006 6155
2007 6424
2008 6729
2009 7421
2010 8129
2011 9080
2012 9779
2013 10476
2014 10266
2015 10458
2016 10109
2017 10243
2018 9607
2019 4577
2020 99
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142,936 results
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Page 1
Mutational spectrum in a worldwide study of 29,700 families with BRCA1 or BRCA2 mutations
Rebbeck TR, et al. Hum Mutat 2018. Among authors: Pradhan N, Prieur F, Prajzendanc K. PMID 29446198 Free PMC article.
The prevalence and spectrum of germline mutations in BRCA1 and BRCA2 have been reported in single populations, with the majority of reports focused on White in Europe and North America. ...
The prevalence and spectrum of germline mutations in BRCA1 and BRCA2 have been reported in single populations, with the majority of r …
Fanconi anaemia and cancer: an intricate relationship
Nalepa G and Clapp DW. Nat Rev Cancer 2018 - Review. PMID 29376519
Fanconi anaemia (FA) is a genetic disorder that is characterized by bone marrow failure (BMF), developmental abnormalities and predisposition to cancer. Together with other proteins involved in DNA repair processes and cell division, the FA proteins maintain genome homeostasis, and germline mutation of any one of the genes that encode FA proteins causes FA. ...
Fanconi anaemia (FA) is a genetic disorder that is characterized by bone marrow failure (BMF), developmental abnormalities and predisposi
When to obtain genomic data in acute myeloid leukemia (AML) and which mutations matter
Roloff GW and Griffiths EA. Blood Adv 2018 - Review. PMID 30425072 Free PMC article.
Mutational profiling has fundamentally changed our approach to patients with acute myeloid leukemia (AML). Patients with AML are routinely profiled for the presence of mutations in FLT3, NPM1, CEBPA, and, more recently, TP53 In this chapter, we review the role of mutational profiling to help define disease biology in AML, particularly among patients with putatively intermediate-risk disease. We describe the body of evidence supporting the utility of mutational profiling when performed at the time of diagnosis (to identify prognostic and targetable mutations), at the time of complete remission (to assess minimal residual disease as a marker for relapse), and at the time of relapse (to identify therapeutic targets and eligibility for clinical trials). ...
Mutational profiling has fundamentally changed our approach to patients with acute myeloid leukemia (AML). Patients with AML are rout …
Synthetically Lethal Interactions of ATM, ATR, and DNA-PKcs
Kantidze OL, et al. Trends Cancer 2018 - Review. PMID 30352678
Synthetic lethality occurs when simultaneous perturbations of two genes or molecular processes result in a loss of cell viability. ...We review here synthetically lethal interactions of ataxia-telangiectasia mutated (ATM), ATM- and Rad3-related (ATR), and DNA-dependent protein kinase catalytic subunit (DNA-PKcs). ...
Synthetic lethality occurs when simultaneous perturbations of two genes or molecular processes result in a loss of cell viability. .. …
Hereditary SWI/SNF complex deficiency syndromes
Agaimy A and Foulkes WD. Semin Diagn Pathol 2018 - Review. PMID 29397238
The SWItch Sucrose non-fermentable (SWI/SNF) complex is a highly conserved multi-subunit complex of proteins encoded by numerous genes mapped to different chromosomal regions. The complex regulates the process of chromatin remodelling and hence plays a central role in the epigenetic regulation of gene expression, cell proliferation and differentiation. ...
The SWItch Sucrose non-fermentable (SWI/SNF) complex is a highly conserved multi-subunit complex of proteins encoded by numerous gene …
Expression of nuclear membrane proteins in normal, hyperplastic, and neoplastic thyroid epithelial cells.
Wang J, et al. Virchows Arch 2015. PMID 26254781
Emerin, lamin A/C, lamin B, and lamin-associated polypeptide 2 (LAP2) are nuclear membrane proteins that play an important role in maintaining nuclear structure and coordinating cell activity. ...Real-time PCR analysis showed that mRNA expression of nuclear membrane protein varied between cell lines. Our findings suggest that expression of nuclear membrane proteins may be related to follicular function in normal and hyperplastic follicles, and we hypothesize that they are also involved in the proliferation and differentiation of neoplastic thyroid cells. ...
Emerin, lamin A/C, lamin B, and lamin-associated polypeptide 2 (LAP2) are nuclear membrane proteins that play an important rol …
Cohesin mutations in human cancer
Hill VK, et al. Biochim Biophys Acta 2016 - Review. PMID 27207471 Free PMC article.
Cohesin is a highly-conserved protein complex that plays important roles in sister chromatid cohesion, chromatin structure, gene expression, and DNA repair. In humans, cohesin is a ubiquitously expressed, multi-subunit protein complex composed of core subunits SMC1A, SMC3, RAD21, STAG1/2 and regulatory subunits WAPL, PDS5A/B, CDCA5, NIPBL, and MAU2. ...
Cohesin is a highly-conserved protein complex that plays important roles in sister chromatid cohesion, chromatin structure, gene expr …
Revisiting the morbid genome of Mendelian disorders
Abouelhoda M, et al. Genome Biol 2016. PMID 27884173 Free PMC article.
The Saudi Arabian variome is enriched for homozygosity due to inbreeding, a key advantage that can be exploited for the critical examination of previously published variants. ...Our Saudi Human Genome Program (SHGP) can reclassify many variants that are rare in public databases. Furthermore, SGPD allows us to observe many previously reported variants in the homozygous state and our extensive phenotyping of participants makes it possible to demonstrate the lack of phenotype for these variants, thus challenging their pathogenicity despite their rarity. ...
The Saudi Arabian variome is enriched for homozygosity due to inbreeding, a key advantage that can be exploited for the critical examination …
Homologous recombination and human health: the roles of BRCA1, BRCA2, and associated proteins.
Prakash R, et al. Cold Spring Harb Perspect Biol 2015 - Review. PMID 25833843 Free PMC article.
Homologous recombination (HR) is a major pathway for the repair of DNA double-strand breaks in mammalian cells, the defining step of which is homologous strand exchange directed by the RAD51 protein. ...Other HR proteins, including PALB2 and RAD51 paralogs, have also been identified as tumor suppressors. This review summarizes recent findings on BRCA1, BRCA2, and associated proteins involved in human disease with an emphasis on their molecular roles and interactions....
Homologous recombination (HR) is a major pathway for the repair of DNA double-strand breaks in mammalian cells, the defining step of which i …
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