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

Year Number of Results
1950 1
1959 1
1960 1
1962 1
1967 3
1968 2
1969 1
1970 5
1971 10
1972 2
1973 12
1974 17
1975 26
1976 26
1977 36
1978 29
1979 42
1980 56
1981 44
1982 61
1983 81
1984 94
1985 94
1986 107
1987 112
1988 154
1989 189
1990 221
1991 257
1992 346
1993 351
1994 469
1995 563
1996 626
1997 761
1998 810
1999 909
2000 1176
2001 1225
2002 1196
2003 1260
2004 1300
2005 1532
2006 1478
2007 1547
2008 1555
2009 1606
2010 1734
2011 1891
2012 1984
2013 2138
2014 2189
2015 2385
2016 2252
2017 2325
2018 2253
2019 2248
2020 2422
2021 2478
2022 2238
2023 2052
2024 899

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46,798 results

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Page 1
HNF1B-associated renal and extra-renal disease-an expanding clinical spectrum.
Clissold RL, Hamilton AJ, Hattersley AT, Ellard S, Bingham C. Clissold RL, et al. Nat Rev Nephrol. 2015 Feb;11(2):102-12. doi: 10.1038/nrneph.2014.232. Epub 2014 Dec 23. Nat Rev Nephrol. 2015. PMID: 25536396 Review.
Heterozygous mutations in the gene that encodes the transcription factor hepatocyte nuclear factor 1beta (HNF1B) represent the most common known monogenic cause of developmental kidney disease. ...This Review discusses the genetics and molecular pathways that lead to disea …
Heterozygous mutations in the gene that encodes the transcription factor hepatocyte nuclear factor 1beta (HNF1B) represent the most c …
Expanding the genetic architecture and phenotypic spectrum in the skeletal ciliopathies.
Zhang W, Taylor SP, Ennis HA, Forlenza KN, Duran I, Li B, Sanchez JAO, Nevarez L, Nickerson DA, Bamshad M; University of Washington Center for Mendelian Genomics; Lachman RS, Krakow D, Cohn DH. Zhang W, et al. Hum Mutat. 2018 Jan;39(1):152-166. doi: 10.1002/humu.23362. Epub 2017 Nov 6. Hum Mutat. 2018. PMID: 29068549 Free PMC article.
These include the perinatal lethal short-rib polydactyly syndromes (SRPS) and the less severe asphyxiating thoracic dystrophy (ATD), Ellis-van Creveld (EVC) syndrome, and cranioectodermal dysplasia (CED) phenotypes. To identify new genes and define the spectrum of mutation …
These include the perinatal lethal short-rib polydactyly syndromes (SRPS) and the less severe asphyxiating thoracic dystrophy (ATD), Ellis-v …
Nuclear import pathway key to rescuing dominant progerin phenotypes.
Wilson KL. Wilson KL. Sci Signal. 2018 Jul 3;11(537):eaat9448. doi: 10.1126/scisignal.aat9448. Sci Signal. 2018. PMID: 29970604 Free PMC article. Review.
In this issue of Science Signaling, Larrieu et al show that an acetyltransferase inhibitor that rescues many dominant nuclear phenotypes caused by progerin, a truncated form of lamin A, does so by releasing the specialized nuclear import receptor TNPO1 from s …
In this issue of Science Signaling, Larrieu et al show that an acetyltransferase inhibitor that rescues many dominant nuclear phen …
Chondrocyte De-Differentiation: Biophysical Cues to Nuclear Alterations.
Al-Maslamani NA, Oldershaw R, Tew S, Curran J, D'Hooghe P, Yamamoto K, Horn HF. Al-Maslamani NA, et al. Cells. 2022 Dec 12;11(24):4011. doi: 10.3390/cells11244011. Cells. 2022. PMID: 36552775 Free PMC article. Review.
The expansion process provides the benefit of generating a large number of cells required for implantation; however, during the expansion these cells de-differentiate and lose their chondrocyte phenotype. In this review we focus on examining the de-differentiation pheno …
The expansion process provides the benefit of generating a large number of cells required for implantation; however, during the expansion th …
Nuclear factor programming improves stem-cell-derived hepatocyte phenotype.
Rashidi H, Hay DC. Rashidi H, et al. Cell Stem Cell. 2022 May 5;29(5):657-658. doi: 10.1016/j.stem.2022.04.009. Cell Stem Cell. 2022. PMID: 35523133 Free article.
In this issue of Cell Stem Cell, Ma et al. demonstrate that the activation of the nuclear receptor thyroid hormone receptor beta (NR1A2) improves the differentiation status of hepatocyte-like cells derived from human pluripotent stem cells....
In this issue of Cell Stem Cell, Ma et al. demonstrate that the activation of the nuclear receptor thyroid hormone receptor beta (NR1 …
[Advances in cell nuclear mechanobiology and its regulation mechanisms].
Yan R, Chen X, Zhang Y, Wang M, Li S, Liu Y. Yan R, et al. Sheng Wu Yi Xue Gong Cheng Xue Za Zhi. 2023 Aug 25;40(4):617-624. doi: 10.7507/1001-5515.202304036. Sheng Wu Yi Xue Gong Cheng Xue Za Zhi. 2023. PMID: 37666750 Free PMC article. Review. Chinese.
As an important intracellular genetic and regulatory center, the nucleus is not only a terminal effector of intracellular biochemical signals, but also has a significant impact on cell function and phenotype through direct or indirect regulation of nuclear mechanist …
As an important intracellular genetic and regulatory center, the nucleus is not only a terminal effector of intracellular biochemical signal …
Imaging Early Life Cardiovascular Phenotype.
Varadarajan V, Gidding SS, Wu C, Carr JJ, Lima JAC. Varadarajan V, et al. Circ Res. 2023 Jun 9;132(12):1607-1627. doi: 10.1161/CIRCRESAHA.123.322054. Epub 2023 Jun 8. Circ Res. 2023. PMID: 37289903 Review.
In this regard, noninvasive imaging techniques play a significant role in identifying early CVD phenotypes. An armamentarium of imaging techniques including vascular ultrasound, echocardiography, magnetic resonance imaging, computed tomography, noninvasive computed tomogra …
In this regard, noninvasive imaging techniques play a significant role in identifying early CVD phenotypes. An armamentarium of imagi …
Radiation-induced transgenerational effects in animals.
Dubrova YE, Sarapultseva EI. Dubrova YE, et al. Int J Radiat Biol. 2022;98(6):1047-1053. doi: 10.1080/09553002.2020.1793027. Epub 2020 Aug 3. Int J Radiat Biol. 2022. PMID: 32658553 Review.
These radiation-induced transgenerational effects belong to an epigenetic phenomenon that could not be defined as a transmission of altered phenotypes from the irradiated parents to their non-exposed offspring. ...
These radiation-induced transgenerational effects belong to an epigenetic phenomenon that could not be defined as a transmission of altered …
Nuclear receptor control of opposing macrophage phenotypes in cardiovascular disease.
Frieler RA, Ramnarayanan S, Mortensen RM. Frieler RA, et al. Front Biosci (Landmark Ed). 2012 Jan 1;17(5):1917-30. doi: 10.2741/4028. Front Biosci (Landmark Ed). 2012. PMID: 22201845 Free article. Review.
Macrophages have important physiological roles and display a high degree of heterogeneous phenotypes in response to a variety of stimuli. In particular, the spectrum of alternatively activated macrophages has been a focus because many lines of evidence indicate a cardiopro …
Macrophages have important physiological roles and display a high degree of heterogeneous phenotypes in response to a variety of stim …
Micropillar-based phenotypic screening platform uncovers involvement of HDAC2 in nuclear deformability.
Martewicz S, Zhu X, Qu S, Cui M, Grespan E, Luni C, Jiang B, Yang G, Elvassore N. Martewicz S, et al. Biomaterials. 2022 Jul;286:121564. doi: 10.1016/j.biomaterials.2022.121564. Epub 2022 May 6. Biomaterials. 2022. PMID: 35576810
Nevertheless, the cellular processes and the key molecular components controlling nuclear shape are poorly understood, in part due to a limited availability of assays that allow high-throughput screening of nuclear morphology-phenotypes. In this study, we exp …
Nevertheless, the cellular processes and the key molecular components controlling nuclear shape are poorly understood, in part due to …
46,798 results
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