Búsqueda | Biblioteca Virtual en Salud Odontología. Uruguay

1.

SCUBE3 loss-of-function causes a recognizable recessive developmental disorder due to defective bone morphogenetic protein signaling.

Lin, Yuh-Charn; Niceta, Marcello; Muto, Valentina; Vona, Barbara; Pagnamenta, Alistair T; Maroofian, Reza; Beetz, Christian; van Duyvenvoorde, Hermine; Dentici, Maria Lisa; Lauffer, Peter; Vallian, Sadeq; Ciolfi, Andrea; Pizzi, Simone; Bauer, Peter; Grüning, Nana-Maria; Bellacchio, Emanuele; Del Fattore, Andrea; Petrini, Stefania; Shaheen, Ranad; Tiosano, Dov; Halloun, Rana; Pode-Shakked, Ben; Albayrak, Hatice Mutlu; Isik, Emregül; Wit, Jan M; Dittrich, Marcus; Freire, Bruna L; Bertola, Debora R; Jorge, Alexander A L; Barel, Ortal; Sabir, Ataf H; Al Tenaiji, Amal M J; Taji, Sulaima M; Al-Sannaa, Nouriya; Al-Abdulwahed, Hind; Digilio, Maria Cristina; Irving, Melita; Anikster, Yair; Bhavani, Gandham S L; Girisha, Katta M; Haaf, Thomas; Taylor, Jenny C; Dallapiccola, Bruno; Alkuraya, Fowzan S; Yang, Ruey-Bing; Tartaglia, Marco.

Am J Hum Genet ; 108(1): 115-133, 2021 01 07.

Artículo en Inglés | MEDLINE | ID: mdl-33308444

2.

A novel POC1A variant in an alternatively spliced exon causes classic SOFT syndrome: clinical presentation of seven patients.

Al-Kindi, Adila; Al-Shehhi, Maryam; Westenberger, Ana; Beetz, Christian; Scott, Patrick; Brandau, Oliver; Abbasi-Moheb, Lia; Yüksel, Zafer; Bauer, Peter; Rolfs, Arndt; Grüning, Nana-Maria.

J Hum Genet ; 65(2): 193-197, 2020 Jan.

Artículo en Inglés | MEDLINE | ID: mdl-31767933

3.

Low catalytic activity is insufficient to induce disease pathology in triosephosphate isomerase deficiency.

Segal, Joanna; Mülleder, Michael; Krüger, Antje; Adler, Thure; Scholze-Wittler, Manuela; Becker, Lore; Calzada-Wack, Julia; Garrett, Lillian; Hölter, Sabine M; Rathkolb, Birgit; Rozman, Jan; Racz, Ildiko; Fischer, Ralf; Busch, Dirk H; Neff, Frauke; Klingenspor, Martin; Klopstock, Thomas; Grüning, Nana-Maria; Michel, Steve; Lukaszewska-McGreal, Beata; Voigt, Ingo; Hartmann, Ludger; Timmermann, Bernd; Lehrach, Hans; Wolf, Eckhard; Wurst, Wolfgang; Gailus-Durner, Valérie; Fuchs, Helmut; H de Angelis, Martin; Schrewe, Heinrich; Yuneva, Mariia; Ralser, Markus.

J Inherit Metab Dis ; 42(5): 839-849, 2019 09.

Artículo en Inglés | MEDLINE | ID: mdl-31111503

4.

Dyskeratosis congenita with a novel genetic variant in the DKC1 gene: a case report.

Ratnasamy, Vithiya; Navaneethakrishnan, Suganthan; Sirisena, Nirmala Dushyanthi; Grüning, Nana-Maria; Brandau, Oliver; Thirunavukarasu, Kumanan; Dagnall, Casey L; McReynolds, Lisa J; Savage, Sharon A; Dissanayake, Vajira H W.

BMC Med Genet ; 19(1): 85, 2018 05 25.

Artículo en Inglés | MEDLINE | ID: mdl-29801475

5.

Regulatory crosstalk of the metabolic network.

Grüning, Nana-Maria; Lehrach, Hans; Ralser, Markus.

Trends Biochem Sci ; 35(4): 220-7, 2010 Apr.

Artículo en Inglés | MEDLINE | ID: mdl-20060301

6.

Monogenic Disorders of ROS Production and the Primary Anti-Oxidative Defense.

Grüning, Nana-Maria; Ralser, Markus.

Biomolecules ; 14(2)2024 Feb 09.

Artículo en Inglés | MEDLINE | ID: mdl-38397443

7.

The Impact of Acute Nutritional Interventions on the Plasma Proteome.

Vernardis, Spyros I; Demichev, Vadim; Lemke, Oliver; Grüning, Nana-Maria; Messner, Christoph; White, Matt; Pietzner, Maik; Peluso, Alina; Collet, Tinh-Hai; Henning, Elana; Gille, Christoph; Campbell, Archie; Hayward, Caroline; Porteous, David J; Marioni, Riccardo E; Mülleder, Michael; Zelezniak, Aleksej; Wareham, Nicholas J; Langenberg, Claudia; Farooqi, I Sadaf; Ralser, Markus.

J Clin Endocrinol Metab ; 108(8): 2087-2098, 2023 Jul 14.

Artículo en Inglés | MEDLINE | ID: mdl-36658456

8.

Cancer: Sacrifice for survival.

Grüning, Nana-Maria; Ralser, Markus.

Nature ; 480(7376): 190-1, 2011 Dec 07.

Artículo en Inglés | MEDLINE | ID: mdl-22158241

9.

Global analysis of cytosine and adenine DNA modifications across the tree of life.

Varma, Sreejith Jayasree; Calvani, Enrica; Grüning, Nana-Maria; Messner, Christoph B; Grayson, Nicholas; Capuano, Floriana; Mülleder, Michael; Ralser, Markus.

Elife ; 112022 07 28.

Artículo en Inglés | MEDLINE | ID: mdl-35900202

10.

A proteomic survival predictor for COVID-19 patients in intensive care.

Demichev, Vadim; Tober-Lau, Pinkus; Nazarenko, Tatiana; Lemke, Oliver; Kaur Aulakh, Simran; Whitwell, Harry J; Röhl, Annika; Freiwald, Anja; Mittermaier, Mirja; Szyrwiel, Lukasz; Ludwig, Daniela; Correia-Melo, Clara; Lippert, Lena J; Helbig, Elisa T; Stubbemann, Paula; Olk, Nadine; Thibeault, Charlotte; Grüning, Nana-Maria; Blyuss, Oleg; Vernardis, Spyros; White, Matthew; Messner, Christoph B; Joannidis, Michael; Sonnweber, Thomas; Klein, Sebastian J; Pizzini, Alex; Wohlfarter, Yvonne; Sahanic, Sabina; Hilbe, Richard; Schaefer, Benedikt; Wagner, Sonja; Machleidt, Felix; Garcia, Carmen; Ruwwe-Glösenkamp, Christoph; Lingscheid, Tilman; Bosquillon de Jarcy, Laure; Stegemann, Miriam S; Pfeiffer, Moritz; Jürgens, Linda; Denker, Sophy; Zickler, Daniel; Spies, Claudia; Edel, Andreas; Müller, Nils B; Enghard, Philipp; Zelezniak, Aleksej; Bellmann-Weiler, Rosa; Weiss, Günter; Campbell, Archie; Hayward, Caroline.

PLOS Digit Health ; 1(1): e0000007, 2022 Jan.

Artículo en Inglés | MEDLINE | ID: mdl-36812516

11.

A time-resolved proteomic and prognostic map of COVID-19.

Demichev, Vadim; Tober-Lau, Pinkus; Lemke, Oliver; Nazarenko, Tatiana; Thibeault, Charlotte; Whitwell, Harry; Röhl, Annika; Freiwald, Anja; Szyrwiel, Lukasz; Ludwig, Daniela; Correia-Melo, Clara; Aulakh, Simran Kaur; Helbig, Elisa T; Stubbemann, Paula; Lippert, Lena J; Grüning, Nana-Maria; Blyuss, Oleg; Vernardis, Spyros; White, Matthew; Messner, Christoph B; Joannidis, Michael; Sonnweber, Thomas; Klein, Sebastian J; Pizzini, Alex; Wohlfarter, Yvonne; Sahanic, Sabina; Hilbe, Richard; Schaefer, Benedikt; Wagner, Sonja; Mittermaier, Mirja; Machleidt, Felix; Garcia, Carmen; Ruwwe-Glösenkamp, Christoph; Lingscheid, Tilman; Bosquillon de Jarcy, Laure; Stegemann, Miriam S; Pfeiffer, Moritz; Jürgens, Linda; Denker, Sophy; Zickler, Daniel; Enghard, Philipp; Zelezniak, Aleksej; Campbell, Archie; Hayward, Caroline; Porteous, David J; Marioni, Riccardo E; Uhrig, Alexander; Müller-Redetzky, Holger; Zoller, Heinz; Löffler-Ragg, Judith.

Cell Syst ; 12(8): 780-794.e7, 2021 08 18.

Artículo en Inglés | MEDLINE | ID: mdl-34139154

12.

Biallelic inactivating variants in the GTPBP2 gene cause a neurodevelopmental disorder with severe intellectual disability.

Bertoli-Avella, Aida M; Garcia-Aznar, Jose M; Brandau, Oliver; Al-Hakami, Fahad; Yüksel, Zafer; Marais, Anett; Grüning, Nana-Maria; Abbasi Moheb, Lia; Paknia, Omid; Alshaikh, Nahla; Alameer, Seham; Marafi, Makia J; Al-Mulla, Fahd; Al-Sannaa, Nouriya; Rolfs, Arndt; Bauer, Peter.

Eur J Hum Genet ; 26(4): 592-598, 2018 04.

Artículo en Inglés | MEDLINE | ID: mdl-29449720

13.

The return of metabolism: biochemistry and physiology of the pentose phosphate pathway.

Stincone, Anna; Prigione, Alessandro; Cramer, Thorsten; Wamelink, Mirjam M C; Campbell, Kate; Cheung, Eric; Olin-Sandoval, Viridiana; Grüning, Nana-Maria; Krüger, Antje; Tauqeer Alam, Mohammad; Keller, Markus A; Breitenbach, Michael; Brindle, Kevin M; Rabinowitz, Joshua D; Ralser, Markus.

Biol Rev Camb Philos Soc ; 90(3): 927-63, 2015 Aug.

Artículo en Inglés | MEDLINE | ID: mdl-25243985

14.

Inhibition of triosephosphate isomerase by phosphoenolpyruvate in the feedback-regulation of glycolysis.

Grüning, Nana-Maria; Du, Dijun; Keller, Markus A; Luisi, Ben F; Ralser, Markus.

Open Biol ; 4: 130232, 2014 Mar 05.

Artículo en Inglés | MEDLINE | ID: mdl-24598263

15.

A synthetic sandalwood odorant induces wound-healing processes in human keratinocytes via the olfactory receptor OR2AT4.

Busse, Daniela; Kudella, Philipp; Grüning, Nana-Maria; Gisselmann, Günter; Ständer, Sonja; Luger, Thomas; Jacobsen, Frank; Steinsträßer, Lars; Paus, Ralf; Gkogkolou, Paraskevi; Böhm, Markus; Hatt, Hanns; Benecke, Heike.

J Invest Dermatol ; 134(11): 2823-2832, 2014 Nov.

Artículo en Inglés | MEDLINE | ID: mdl-24999593

16.

Warburg effect and translocation-induced genomic instability: two yeast models for cancer cells.

Tosato, Valentina; Grüning, Nana-Maria; Breitenbach, Michael; Arnak, Remigiusz; Ralser, Markus; Bruschi, Carlo V.

Front Oncol ; 2: 212, 2012.

Artículo en Inglés | MEDLINE | ID: mdl-23346549

17.

Pyruvate kinase is a dosage-dependent regulator of cellular amino acid homeostasis.

Bluemlein, Katharina; Glückmann, Matthias; Grüning, Nana-Maria; Feichtinger, René; Krüger, Antje; Wamelink, Mirjam; Lehrach, Hans; Tate, Stephen; Neureiter, Daniel; Kofler, Barbara; Ralser, Markus.

Oncotarget ; 3(11): 1356-69, 2012 Nov.

Artículo en Inglés | MEDLINE | ID: mdl-23154538

18.

Pyruvate kinase triggers a metabolic feedback loop that controls redox metabolism in respiring cells.

Grüning, Nana-Maria; Rinnerthaler, Mark; Bluemlein, Katharina; Mülleder, Michael; Wamelink, Mirjam M C; Lehrach, Hans; Jakobs, Cornelis; Breitenbach, Michael; Ralser, Markus.

Cell Metab ; 14(3): 415-27, 2011 Sep 07.

Artículo en Inglés | MEDLINE | ID: mdl-21907146

19.

No evidence for a shift in pyruvate kinase PKM1 to PKM2 expression during tumorigenesis.

Bluemlein, Katharina; Grüning, Nana-Maria; Feichtinger, René G; Lehrach, Hans; Kofler, Barbara; Ralser, Markus.

Oncotarget ; 2(5): 393-400, 2011 May.

Artículo en Inglés | MEDLINE | ID: mdl-21789790

20.

The pentose phosphate pathway is a metabolic redox sensor and regulates transcription during the antioxidant response.

Krüger, Antje; Grüning, Nana-Maria; Wamelink, Mirjam M C; Kerick, Martin; Kirpy, Alexander; Parkhomchuk, Dimitri; Bluemlein, Katharina; Schweiger, Michal-Ruth; Soldatov, Aleksey; Lehrach, Hans; Jakobs, Cornelis; Ralser, Markus.

Antioxid Redox Signal ; 15(2): 311-24, 2011 Jul 15.

Artículo en Inglés | MEDLINE | ID: mdl-21348809

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