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Items: 1 to 20 of 82

1.

Evaluating Face2Gene as a Tool to Identify Cornelia de Lange Syndrome by Facial Phenotypes.

Latorre-Pellicer A, Ascaso Á, Trujillano L, Gil-Salvador M, Arnedo M, Lucia-Campos C, Antoñanzas-Pérez R, Marcos-Alcalde I, Parenti I, Bueno-Lozano G, Musio A, Puisac B, Kaiser FJ, Ramos FJ, Gómez-Puertas P, Pié J.

Int J Mol Sci. 2020 Feb 4;21(3). pii: E1042. doi: 10.3390/ijms21031042.

2.

More Than One HMG-CoA Lyase: The Classical Mitochondrial Enzyme Plus the Peroxisomal and the Cytosolic Ones.

Arnedo M, Latorre-Pellicer A, Lucia-Campos C, Gil-Salvador M, Antoñanzas-Peréz R, Gómez-Puertas P, Bueno-Lozano G, Puisac B, Pié J.

Int J Mol Sci. 2019 Dec 4;20(24). pii: E6124. doi: 10.3390/ijms20246124. Review.

3.

MEPSAnd: minimum energy path surface analysis over n-dimensional surfaces.

Marcos-Alcalde I, López-Viñas E, Gómez-Puertas P.

Bioinformatics. 2020 Feb 1;36(3):956-958. doi: 10.1093/bioinformatics/btz649.

PMID:
31418769
4.

Identification of temperature-sensitive mutations and characterization of thermolabile RNase II variants.

Reis FP, Bárria C, Gomez-Puertas P, Gomes CM, Arraiano CM.

FEBS Lett. 2019 Feb;593(3):352-360. doi: 10.1002/1873-3468.13313. Epub 2018 Dec 28.

5.

A novel RAD21 p.(Gln592del) variant expands the clinical description of Cornelia de Lange syndrome type 4 - Review of the literature.

Gudmundsson S, Annerén G, Marcos-Alcalde Í, Wilbe M, Melin M, Gómez-Puertas P, Bondeson ML.

Eur J Med Genet. 2019 Jun;62(6):103526. doi: 10.1016/j.ejmg.2018.08.007. Epub 2018 Aug 17. Review.

PMID:
30125677
6.

Population structure of OXA-48-producing Klebsiella pneumoniae ST405 isolates during a hospital outbreak characterised by genomic typing.

López-Camacho E, Paño-Pardo JR, Ruiz-Carrascoso G, Wesselink JJ, Lusa-Bernal S, Ramos-Ruiz R, Ovalle S, Gómez-Gil R, Pérez-Blanco V, Pérez-Vázquez M, Gómez-Puertas P, Mingorance J.

J Glob Antimicrob Resist. 2018 Dec;15:48-54. doi: 10.1016/j.jgar.2018.06.008. Epub 2018 Jun 22.

PMID:
29940334
7.

Human Mitochondrial HMG-CoA Synthase Deficiency: Role of Enzyme Dimerization Surface and Characterization of Three New Patients.

Puisac B, Marcos-Alcalde I, Hernández-Marcos M, Tobajas Morlana P, Levtova A, Schwahn BC, DeLaet C, Lace B, Gómez-Puertas P, Pié J.

Int J Mol Sci. 2018 Mar 28;19(4). pii: E1010. doi: 10.3390/ijms19041010.

8.

Two-step ATP-driven opening of cohesin head.

Marcos-Alcalde Í, Mendieta-Moreno JI, Puisac B, Gil-Rodríguez MC, Hernández-Marcos M, Soler-Polo D, Ramos FJ, Ortega J, Pié J, Mendieta J, Gómez-Puertas P.

Sci Rep. 2017 Jun 12;7(1):3266. doi: 10.1038/s41598-017-03118-9.

9.

A nucleotide-controlled conformational switch modulates the activity of eukaryotic IMP dehydrogenases.

Buey RM, Fernández-Justel D, Marcos-Alcalde Í, Winter G, Gómez-Puertas P, de Pereda JM, Luis Revuelta J.

Sci Rep. 2017 Jun 1;7(1):2648. doi: 10.1038/s41598-017-02805-x.

10.

mRNA Quantification of NIPBL Isoforms A and B in Adult and Fetal Human Tissues, and a Potentially Pathological Variant Affecting Only Isoform A in Two Patients with Cornelia de Lange Syndrome.

Puisac B, Teresa-Rodrigo ME, Hernández-Marcos M, Baquero-Montoya C, Gil-Rodríguez MC, Visnes T, Bot C, Gómez-Puertas P, Kaiser FJ, Ramos FJ, Ström L, Pié J.

Int J Mol Sci. 2017 Feb 23;18(3). pii: E481. doi: 10.3390/ijms18030481.

11.

Quantum Mechanics/Molecular Mechanics Free Energy Maps and Nonadiabatic Simulations for a Photochemical Reaction in DNA: Cyclobutane Thymine Dimer.

Mendieta-Moreno JI, Trabada DG, Mendieta J, Lewis JP, Gómez-Puertas P, Ortega J.

J Phys Chem Lett. 2016 Nov 3;7(21):4391-4397. Epub 2016 Oct 25.

PMID:
27768300
12.

In vivo functional and molecular characterization of the Penicillin-Binding Protein 4 (DacB) of Pseudomonas aeruginosa.

Aguilera Rossi CG, Gómez-Puertas P, Ayala Serrano JA.

BMC Microbiol. 2016 Oct 6;16(1):234.

13.

Special cases in Cornelia de Lange syndrome: The Spanish experience.

Pié J, Puisac B, Hernández-Marcos M, Teresa-Rodrigo ME, Gil-Rodríguez M, Baquero-Montoya C, Ramos-Cáceres M, Bernal M, Ayerza-Casas A, Bueno I, Gómez-Puertas P, Ramos FJ.

Am J Med Genet C Semin Med Genet. 2016 Jun;172(2):198-205. doi: 10.1002/ajmg.c.31501. Epub 2016 May 10. Review.

PMID:
27164022
14.

A Practical Quantum Mechanics Molecular Mechanics Method for the Dynamical Study of Reactions in Biomolecules.

Mendieta-Moreno JI, Marcos-Alcalde I, Trabada DG, Gómez-Puertas P, Ortega J, Mendieta J.

Adv Protein Chem Struct Biol. 2015;100:67-88. doi: 10.1016/bs.apcsb.2015.06.003. Epub 2015 Jul 15. Review.

15.

The Cell Division Protein FtsZ from Streptococcus pneumoniae Exhibits a GTPase Activity Delay.

Salvarelli E, Krupka M, Rivas G, Mingorance J, Gómez-Puertas P, Alfonso C, Rico AI.

J Biol Chem. 2015 Oct 9;290(41):25081-9. doi: 10.1074/jbc.M115.650077. Epub 2015 Sep 1.

16.

Correction: Modulating the RNA Processing and Decay by the Exosome: Altering Rrp44/Dis3 Activity and End-Product.

Reis FP, Barbas A, Klauer-King AA, Tsanova B, Schaeffer D, López-Viñas E, Gómez-Puertas P, van Hoof A, Arraiano CM.

PLoS One. 2015 Aug 21;10(8):e0136810. doi: 10.1371/journal.pone.0136810. eCollection 2015. No abstract available.

17.

MEPSA: minimum energy pathway analysis for energy landscapes.

Marcos-Alcalde I, Setoain J, Mendieta-Moreno JI, Mendieta J, Gómez-Puertas P.

Bioinformatics. 2015 Dec 1;31(23):3853-5. doi: 10.1093/bioinformatics/btv453. Epub 2015 Jul 31.

18.

ANISERP: a new serpin from the parasite Anisakis simplex.

Valdivieso E, Perteguer MJ, Hurtado C, Campioli P, Rodríguez E, Saborido A, Martínez-Sernández V, Gómez-Puertas P, Ubeira FM, Gárate T.

Parasit Vectors. 2015 Jul 28;8:399. doi: 10.1186/s13071-015-1006-z.

19.

Comparing molecular dynamics force fields in the essential subspace.

Martín-García F, Papaleo E, Gomez-Puertas P, Boomsma W, Lindorff-Larsen K.

PLoS One. 2015 Mar 26;10(3):e0121114. doi: 10.1371/journal.pone.0121114. eCollection 2015.

20.

De novo heterozygous mutations in SMC3 cause a range of Cornelia de Lange syndrome-overlapping phenotypes.

Gil-Rodríguez MC, Deardorff MA, Ansari M, Tan CA, Parenti I, Baquero-Montoya C, Ousager LB, Puisac B, Hernández-Marcos M, Teresa-Rodrigo ME, Marcos-Alcalde I, Wesselink JJ, Lusa-Bernal S, Bijlsma EK, Braunholz D, Bueno-Martinez I, Clark D, Cooper NS, Curry CJ, Fisher R, Fryer A, Ganesh J, Gervasini C, Gillessen-Kaesbach G, Guo Y, Hakonarson H, Hopkin RJ, Kaur M, Keating BJ, Kibaek M, Kinning E, Kleefstra T, Kline AD, Kuchinskaya E, Larizza L, Li YR, Liu X, Mariani M, Picker JD, Pié Á, Pozojevic J, Queralt E, Richer J, Roeder E, Sinha A, Scott RH, So J, Wusik KA, Wilson L, Zhang J, Gómez-Puertas P, Casale CH, Ström L, Selicorni A, Ramos FJ, Jackson LG, Krantz ID, Das S, Hennekam RC, Kaiser FJ, FitzPatrick DR, Pié J.

Hum Mutat. 2015 Apr;36(4):454-62. doi: 10.1002/humu.22761. Epub 2015 Mar 17.

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