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X-linked intellectual disability update 2017.
Neri G, Schwartz CE, Lubs HA, Stevenson RE. Neri G, et al. Am J Med Genet A. 2018 Jun;176(6):1375-1388. doi: 10.1002/ajmg.a.38710. Epub 2018 Apr 25. Am J Med Genet A. 2018. PMID: 29696803 Free PMC article. Review.
Ancient duons may underpin spatial patterning of gene expression in C(4) leaves.
Reyna-Llorens I, Burgess SJ, Reeves G, Singh P, Stevenson SR, Williams BP, Stanley S, Hibberd JM. Reyna-Llorens I, et al. Proc Natl Acad Sci U S A. 2018 Feb 20;115(8):1931-1936. doi: 10.1073/pnas.1720576115. Epub 2018 Feb 5. Proc Natl Acad Sci U S A. 2018. PMID: 29432183 Free PMC article.
If the highly efficient C(4) photosynthesis pathway could be transferred to crops with the C(3) pathway there could be yield gains of up to 50%. ...They act to repress transcription of C(4) photosynthesis genes in mesophyll cells. These duons are also present …
If the highly efficient C(4) photosynthesis pathway could be transferred to crops with the C(3) pathway there could be yield g …
Specific applications of capillary electrochromatography to biopolymers, including proteins, nucleic acids, peptide mapping, antibodies, and so forth.
Krull IS, Sebag A, Stevenson R. Krull IS, et al. J Chromatogr A. 2000 Jul 28;887(1-2):137-63. doi: 10.1016/s0021-9673(00)00251-x. J Chromatogr A. 2000. PMID: 10961309 Review.
Vegvari, T. Srichaiyo, H.-X. Zhang, C. Ericson, D. Eaker, J. Capillary. Elec. 5 (1998) 13; C. Ericson, J....Chromatogr. A 767 (1997) 33; S. Hjerten, D. Eaker, K. Elenbring, C. Ericson, K. Kubo, J.-L. Liao, C.-M. Zeng, P.-A. Lidstrom, C. ...
Vegvari, T. Srichaiyo, H.-X. Zhang, C. Ericson, D. Eaker, J. Capillary. Elec. 5 (1998) 13; C. Ericson, J....Chromatogr. A 767 …
Whole genome sequence analysis identifies a PAX2 mutation to establish a correct diagnosis for a syndromic form of hyperuricemia.
Stevenson M, Pagnamenta AT, Reichart S, Philpott C, Lines KE; OxClinWGS; Gorvin CM, Lhotta K, Taylor JC, Thakker RV. Stevenson M, et al. Am J Med Genet A. 2020 Nov;182(11):2521-2528. doi: 10.1002/ajmg.a.61814. Epub 2020 Aug 9. Am J Med Genet A. 2020. PMID: 32776440 Free PMC article.
WGS was therefore undertaken, and this identified a heterozygous c.226G>C (p.Gly76Arg) missense variant in the paired box gene 2 (PAX2) gene, which co-segregated with renal tubulopathy in the family. ...
WGS was therefore undertaken, and this identified a heterozygous c.226G>C (p.Gly76Arg) missense variant in the paired box g …
An attenuated phenotype of Costello syndrome in three unrelated individuals with a HRAS c.179G>A (p.Gly60Asp) mutation correlates with uncommon functional consequences.
Gripp KW, Sol-Church K, Smpokou P, Graham GE, Stevenson DA, Hanson H, Viskochil DH, Baker LC, Russo B, Gardner N, Stabley DL, Kolbe V, Rosenberger G. Gripp KW, et al. Am J Med Genet A. 2015 Sep;167A(9):2085-97. doi: 10.1002/ajmg.a.37128. Epub 2015 Apr 25. Am J Med Genet A. 2015. PMID: 25914166 Free PMC article.
Heterozygous germline mutations in the proto-oncogene HRAS cause Costello syndrome (CS), an intellectual disability condition with severe failure to thrive, cardiac abnormalities, predisposition to tumors, and neurologic abnormalities. More than 80% of patients share the HRAS mut …
Heterozygous germline mutations in the proto-oncogene HRAS cause Costello syndrome (CS), an intellectual disability condition with severe fa …
Perception of structurally distinct effectors by the integrated WRKY domain of a plant immune receptor.
Mukhi N, Brown H, Gorenkin D, Ding P, Bentham AR, Stevenson CEM, Jones JDG, Banfield MJ. Mukhi N, et al. Proc Natl Acad Sci U S A. 2021 Dec 14;118(50):e2113996118. doi: 10.1073/pnas.2113996118. Proc Natl Acad Sci U S A. 2021. PMID: 34880132 Free PMC article.
Here, we report the crystal structure of the in planta processed C-terminal domain of AvrRps4 (AvrRps4(C)) in complex with RRS1(WRKY) Perception of AvrRps4(C) by RRS1(WRKY) is mediated by the beta2-beta3 segment of RRS1(WRKY) that binds an electronegative pat …
Here, we report the crystal structure of the in planta processed C-terminal domain of AvrRps4 (AvrRps4(C)) in complex with RRS …
Unique amalgamation of primary and secondary structural elements transform peptaibols into potent bioactive cell-penetrating peptides.
Du L, Risinger AL, Mitchell CA, You J, Stamps BW, Pan N, King JB, Bopassa JC, Judge SIV, Yang Z, Stevenson BS, Cichewicz RH. Du L, et al. Proc Natl Acad Sci U S A. 2017 Oct 24;114(43):E8957-E8966. doi: 10.1073/pnas.1707565114. Epub 2017 Oct 10. Proc Natl Acad Sci U S A. 2017. PMID: 29073092 Free PMC article.
Semisynthetic modification of 1 provided several analogs, including a C-terminus-linked coumarin derivative (22) that exhibited appreciably increased potency (GI(50) 5.4 0.1 nM), but lacked ion leakage capabilities associated with a majority of naturally occurring peptaibo …
Semisynthetic modification of 1 provided several analogs, including a C-terminus-linked coumarin derivative (22) that exhibited appre …
Understanding the Reaction Chemistry of 1,1,3,3-Tetramethyldisilazane as a Precursor Gas in a Catalytic Chemical Vapor Deposition Process.
Stevenson JM, Ampong E, Shi Y. Stevenson JM, et al. J Phys Chem A. 2023 Nov 9;127(44):9185-9195. doi: 10.1021/acs.jpca.3c04761. Epub 2023 Oct 26. J Phys Chem A. 2023. PMID: 37882654
The activation energies (E(a)) for the formation of CH(3) and NH(3) were determined to be 61.2 1.0 and 42.1 0.9 kJ mol(-1), respectively, in the temperature range of 1400-2000 and 900-2400 C. It was found that the formation of DMSA may have two different contributing route …
The activation energies (E(a)) for the formation of CH(3) and NH(3) were determined to be 61.2 1.0 and 42.1 0.9 kJ mol(-1), respectively, in …
Effect of background components on spatial-frequency masking.
Yang J, Stevenson SB. Yang J, et al. J Opt Soc Am A Opt Image Sci Vis. 1998 May;15(5):1027-35. doi: 10.1364/josaa.15.001027. J Opt Soc Am A Opt Image Sci Vis. 1998. PMID: 9579054
We then measured the combined effect of a 2-c/deg and a 3-c/deg mask on detection, compared with detection with just the 2-c/deg mask. The comparison in the second case still tests the effect of the 3-c/deg mask, but the presence of the hidden 2-c …
We then measured the combined effect of a 2-c/deg and a 3-c/deg mask on detection, compared with detection with just the 2- …
47 results