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FTO variant associated with malformation syndrome.
Rohena L, Lawson M, Guzman E, Ganapathi M, Cho MT, Haverfield E, Anyane-Yeboa K. Rohena L, et al. Am J Med Genet A. 2016 Apr;170A(4):1023-8. doi: 10.1002/ajmg.a.37515. Epub 2015 Dec 24. Am J Med Genet A. 2016. PMID: 26697951
Common FTO variants are associated with obesity. However, it has recently been shown that homozygous FTO c.947G>A variant, which predicts p.R316Q, and c.956C>T, which predicts p.S319F, are associated with a malformation syndrome inherited in an autosomal reces …
Common FTO variants are associated with obesity. However, it has recently been shown that homozygous FTO c.947G>A variant, which p …
2D 1H and 13C NMR evidence for stereoselective formation of a new bond C-N, C-S or C-C in the reaction of ivalin acetate with substituted pyrimidines.
Diaz E, Nava JL, Barrios H, Quiroz B, Guzman A, León L, Fuentes A. Diaz E, et al. Spectrochim Acta A Mol Biomol Spectrosc. 1998 Apr;54A(4):567-74. doi: 10.1016/s1386-1425(97)00245-x. Spectrochim Acta A Mol Biomol Spectrosc. 1998. PMID: 9608734
High stereoselective Michael addition to ivaline acetate was observed and a new C-C, C-N or C-S bond was formed. 2D NMR 1H and 13C as well as X-ray crystallographic studies were performed on the compounds herein described to establish the structure and …
High stereoselective Michael addition to ivaline acetate was observed and a new C-C, C-N or C-S bond was formed. …
Aqueous Photochemistry of Glyoxylic Acid.
Eugene AJ, Xia SS, Guzman MI. Eugene AJ, et al. J Phys Chem A. 2016 Jun 2;120(21):3817-26. doi: 10.1021/acs.jpca.6b00225. Epub 2016 May 24. J Phys Chem A. 2016. PMID: 27192089 Free article.
During irradiation, excited state glyoxylic acid can undergo alpha-cleavage or participate in hydrogen abstractions. The use of (13)C nuclear magnetic resonance spectroscopy (NMR) analysis shows that glyoxal is an important intermediate produced during direct photolysis. . …
During irradiation, excited state glyoxylic acid can undergo alpha-cleavage or participate in hydrogen abstractions. The use of (13)C …
Surface Oxidation of Phenolic Aldehydes: Fragmentation, Functionalization, and Coupling Reactions.
Rana MS, Guzman MI. Rana MS, et al. J Phys Chem A. 2022 Sep 22;126(37):6502-6516. doi: 10.1021/acs.jpca.2c04963. Epub 2022 Sep 7. J Phys Chem A. 2022. PMID: 36070234 Free PMC article.
In situ production of hydroxyl radicals is confirmed by demethoxylation products and ipso attack at the C(1) ring position holding the -C(H)O group. The order of reactivity increased with the number of methoxy substituents that donate electron density to the aromati …
In situ production of hydroxyl radicals is confirmed by demethoxylation products and ipso attack at the C(1) ring position holding th …
Phenotypic spectrum of the recurrent TRPM3 p.(Val837Met) substitution in seven individuals with global developmental delay and hypotonia.
Lines MA, Goldenberg P, Wong A, Srivastava S, Bayat A, Hove H, Karstensen HG, Anyane-Yeboa K, Liao J, Jiang N, May A, Guzman E, Morleo M, D'Arrigo S, Ciaccio C, Pantaleoni C, Castello R; TUDP Study Group; McKee S, Ong J, Zibdeh-Lough H, Tran-Mau-Them F, Gerasimenko A, Heron D, Keren B, Margot H, de Sainte Agathe JM, Burglen L, Voets T, Vriens J, Innes AM, Dyment DA. Lines MA, et al. Am J Med Genet A. 2022 Jun;188(6):1667-1675. doi: 10.1002/ajmg.a.62673. Epub 2022 Feb 10. Am J Med Genet A. 2022. PMID: 35146895
TRPM3 encodes a transient receptor potential cation channel of the melastatin family, expressed in the central nervous system and in peripheral sensory neurons of the dorsal root ganglia. The recurrent substitution in TRPM3: c.2509G>A, p.(Val837Met) has been associated …
TRPM3 encodes a transient receptor potential cation channel of the melastatin family, expressed in the central nervous system and in periphe …
Therapeutic targeting of HER2-CB2R heteromers in HER2-positive breast cancer.
Blasco-Benito S, Moreno E, Seijo-Vila M, Tundidor I, Andradas C, Caffarel MM, Caro-Villalobos M, Urigüen L, Diez-Alarcia R, Moreno-Bueno G, Hernández L, Manso L, Homar-Ruano P, McCormick PJ, Bibic L, Bernadó-Morales C, Arribas J, Canals M, Casadó V, Canela EI, Guzmán M, Pérez-Gómez E, Sánchez C. Blasco-Benito S, et al. Proc Natl Acad Sci U S A. 2019 Feb 26;116(9):3863-3872. doi: 10.1073/pnas.1815034116. Epub 2019 Feb 7. Proc Natl Acad Sci U S A. 2019. PMID: 30733293 Free PMC article.
The cannabinoid delta(9)-tetrahydrocannabinol (THC) disrupts HER2-CB(2)R complexes by selectively binding to CB(2)R, which leads to (i) the inactivation of HER2 through disruption of HER2-HER2 homodimers, and (ii) the subsequent degradation of HER2 by the proteasome via the E3 li …
The cannabinoid delta(9)-tetrahydrocannabinol (THC) disrupts HER2-CB(2)R complexes by selectively binding to CB(2)R, which leads to (i) the …
Eilat virus, a unique alphavirus with host range restricted to insects by RNA replication.
Nasar F, Palacios G, Gorchakov RV, Guzman H, Da Rosa AP, Savji N, Popov VL, Sherman MB, Lipkin WI, Tesh RB, Weaver SC. Nasar F, et al. Proc Natl Acad Sci U S A. 2012 Sep 4;109(36):14622-7. doi: 10.1073/pnas.1204787109. Epub 2012 Aug 20. Proc Natl Acad Sci U S A. 2012. PMID: 22908261 Free PMC article.
However, in contrast to typical mosquito-borne alphaviruses, EILV could not infect mammalian or avian cell lines, and viral as well as RNA replication could not be detected at 37 C or 28 C. Evolutionarily, these findings suggest that EILV lost its ability to infect …
However, in contrast to typical mosquito-borne alphaviruses, EILV could not infect mammalian or avian cell lines, and viral as well as RNA r …
ZTTK syndrome: Clinical and molecular findings of 15 cases and a review of the literature.
Kushary ST, Revah-Politi A, Barua S, Ganapathi M, Accogli A, Aggarwal V, Brunetti-Pierri N, Cappuccio G, Capra V, Fagerberg CR, Gazdagh G, Guzman E, Hadonou M, Harrison V, Havelund K, Iancu D, Kraus A, Lippa NC, Mansukhani M, McBrian D, McEntagart M, Pacio-Míguez M, Palomares-Bralo M, Pottinger C, Ruivenkamp CAL, Sacco O, Santen GWE, Santos-Simarro F, Scala M, Short J, Sørensen KP, Woods CG; DDD Study; TUDP Consortium; Anyane Yeboa K. Kushary ST, et al. Am J Med Genet A. 2021 Dec;185(12):3740-3753. doi: 10.1002/ajmg.a.62445. Epub 2021 Jul 31. Am J Med Genet A. 2021. PMID: 34331327 Free PMC article.
Furthermore, we aim to delineate any genotype-phenotype correlations specifically for a recurring pathogenic four base pair deletion (c.5753_5756del) along with discussing the impact of missense variants seen in the SON gene....
Furthermore, we aim to delineate any genotype-phenotype correlations specifically for a recurring pathogenic four base pair deletion (c …
KARRIKIN UP-REGULATED F-BOX 1 (KUF1) imposes negative feedback regulation of karrikin and KAI2 ligand metabolism in Arabidopsis thaliana.
Sepulveda C, Guzmán MA, Li Q, Villaécija-Aguilar JA, Martinez SE, Kamran M, Khosla A, Liu W, Gendron JM, Gutjahr C, Waters MT, Nelson DC. Sepulveda C, et al. Proc Natl Acad Sci U S A. 2022 Mar 15;119(11):e2112820119. doi: 10.1073/pnas.2112820119. Epub 2022 Mar 7. Proc Natl Acad Sci U S A. 2022. PMID: 35254909 Free PMC article.
30 results