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Page 1
The effect of LRRK2 loss-of-function variants in humans.
Whiffin N, Armean IM, Kleinman A, Marshall JL, Minikel EV, Goodrich JK, Quaife NM, Cole JB, Wang Q, Karczewski KJ, Cummings BB, Francioli L, Laricchia K, Guan A, Alipanahi B, Morrison P, Baptista MAS, Merchant KM; Genome Aggregation Database Production Team; Genome Aggregation Database Consortium; Ware JS, Havulinna AS, Iliadou B, Lee JJ, Nadkarni GN, Whiteman C; 23andMe Research Team; Daly M, Esko T, Hultman C, Loos RJF, Milani L, Palotie A, Pato C, Pato M, Saleheen D, Sullivan PF, Alföldi J, Cannon P, MacArthur DG. Whiffin N, et al. Nat Med. 2020 Jun;26(6):869-877. doi: 10.1038/s41591-020-0893-5. Epub 2020 May 27. Nat Med. 2020. PMID: 32461697 Free PMC article.
Systematic single-variant and gene-based association testing of thousands of phenotypes in 394,841 UK Biobank exomes.
Karczewski KJ, Solomonson M, Chao KR, Goodrich JK, Tiao G, Lu W, Riley-Gillis BM, Tsai EA, Kim HI, Zheng X, Rahimov F, Esmaeeli S, Grundstad AJ, Reppell M, Waring J, Jacob H, Sexton D, Bronson PG, Chen X, Hu X, Goldstein JI, King D, Vittal C, Poterba T, Palmer DS, Churchhouse C, Howrigan DP, Zhou W, Watts NA, Nguyen K, Nguyen H, Mason C, Farnham C, Tolonen C, Gauthier LD, Gupta N, MacArthur DG, Rehm HL, Seed C, Philippakis AA, Daly MJ, Davis JW, Runz H, Miller MR, Neale BM. Karczewski KJ, et al. Cell Genom. 2022 Aug 15;2(9):100168. doi: 10.1016/j.xgen.2022.100168. eCollection 2022 Sep 14. Cell Genom. 2022. PMID: 36778668 Free PMC article.
Diverse modes of reactivity of dialkyl azodicarboxylates with P(III) compounds: synthesis, structure, and reactivity of products other than the Morrison-Brunn-Huisgen intermediate in a Mitsunobu-type reaction.
Satish Kumar N, Praveen Kumar K, Pavan Kumar KV, Kommana P, Vittal JJ, Kumara Swamy KC. Satish Kumar N, et al. J Org Chem. 2004 Mar 19;69(6):1880-9. doi: 10.1021/jo035634d. J Org Chem. 2004. PMID: 15058933
The isocyanate CH(2)(6-t-Bu-4-Me-C(6)H(2)O)(2)P-NCO (10) underwent 1,3-(P,C) cycloaddition with DEAD/DIAD to lead to CH(2)(6-t-Bu-4-Me-C(6)H(2)O)(2)P[N(CO(2)R)N(CO(2)R)-C(O)-N] [R = Et (22), i-Pr (23)]. ...Finally, reaction of S(6-t-Bu-4-Me-C(6)H(2)O)(2)P …
The isocyanate CH(2)(6-t-Bu-4-Me-C(6)H(2)O)(2)P-NCO (10) underwent 1,3-(P,C) cycloaddition with DEAD/DIAD to lead to CH(2)(6-t …
ASFMR1 splice variant: A predictor of fragile X-associated tremor/ataxia syndrome.
Vittal P, Pandya S, Sharp K, Berry-Kravis E, Zhou L, Ouyang B, Jackson J, Hall DA. Vittal P, et al. Neurol Genet. 2018 Jul 27;4(4):e246. doi: 10.1212/NXG.0000000000000246. eCollection 2018 Aug. Neurol Genet. 2018. PMID: 30065951 Free PMC article.
RESULTS: Premutation men and women both with and without FXTAS had higher ASFMR1-TV2 levels compared with NC men and women (n = 135,135, p < 0.0001), and ASFMR1-TV2 had good discriminating power for FXTAS compared with NCs but not for FXTAS from PMC. ...
RESULTS: Premutation men and women both with and without FXTAS had higher ASFMR1-TV2 levels compared with NC men and women (n = 135,135, …
Taxation of the fat content of foods for reducing their consumption and preventing obesity or other adverse health outcomes.
Lhachimi SK, Pega F, Heise TL, Fenton C, Gartlehner G, Griebler U, Sommer I, Bombana M, Katikireddi SV. Lhachimi SK, et al. Cochrane Database Syst Rev. 2020 Sep 11;9(9):CD012415. doi: 10.1002/14651858.CD012415.pub2. Cochrane Database Syst Rev. 2020. PMID: 32914461 Free PMC article.

For the outcome total consumption of fat, a reduction of 41.8 grams per week per person in a household (P < 0.001) was estimated. For the consumption of saturated fat, one study reported a reduction of 4.2% from minced beef sales, a reduction of 5.8% from cream sales, a

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For the outcome total consumption of fat, a reduction of 41.8 grams per week per person in a household (P < 0.001) was estimated.

…
Epidermal growth factor receptor (EGFR) pathway genes and interstitial lung disease: an association study.
Li C, Wei R, Jones-Hall YL, Vittal R, Zhang M, Liu W. Li C, et al. Sci Rep. 2014 May 13;4:4893. doi: 10.1038/srep04893. Sci Rep. 2014. PMID: 24819665 Free PMC article.
Three EGFR [-216G/T (rs712830), -191A/C (rs712829), 497R > K(A/G) (rs2227983)], one EGF [61A/G, (rs4444903)] and one TGFA (rs3821262C/T) polymorphisms previously demonstrated to alter gene functions were genotyped in 229 sporadic idiopathic ILD patients and 693 normal h …
Three EGFR [-216G/T (rs712830), -191A/C (rs712829), 497R > K(A/G) (rs2227983)], one EGF [61A/G, (rs4444903)] and one TGFA (rs38212 …
12 results