Results 31 to 40 of about 1,908,891 (267)
Rare Primary Mitochondrial DNA Mutations and Probable Synergistic Variants in Leber’s Hereditary Optic Neuropathy
, 2012 Background
Leber’s hereditary optic neuropathy (LHON) is a maternally inherited blinding disorder, which in over 90% of cases is due to one of three primary mitochondrial DNA (mtDNA) point mutations (m.11778G>A, m.3460G>A and m.14484T>C, respectively ...Baharak Hooshiar Kashani, Valentino, M. (M) L. (L), Bernd Wissinger, Sascha Fauser (144944), Dollfus, Helene, Valerio Carelli (24588), Barboni P., Helene Dollfus, Pizza, F. (F), Fauser Sascha, De Negri AM, Wissinger B., Chiara La Morgia, Chiara La Morgia (24595), Procaccio P, Piero Barboni, Fabio Pizza, Dollfus H., Valerio Carelli, Achilli, A., Liguori R., Dollfus H, Carelli, Valerio, Zeviani M, Torroni, Antonio, Barboni, P. (P), Rocco Liguori, Hooshiar Kashani, Baharak, P. Barboni, De Negri A. M., B. Leo-Kottler, Hooshiar Kashani Baharak, Amati-Bonneau Patrizia, Luisa Iommarini (144907), Vincent Procaccio, Massimo Zeviani (81459), Achilli, A. (A), Sadun, F., A. Achilli, Ducos Ghislaine, Wissinger, Bernd, Achilli A., Zeviani Massimo, Bonneau, D. (D), Christophe Orssaud, Massimo Zeviani, Maria Lucia Valentino, La Morgia C, Patrizia Amati-Bonneau (144951), Dollfus Helene, Maria Lucia Valentino (144915), Torroni, A., Maria Pala, Reynier, Pascal, Leo-Kottler Beate, La Morgia C., Iommarini Luisa, Amati-Bonneau, P. (P), Pizza F, Achilli Alessandro, Reynier, P. (P), Pizza, Fabio, Ducos, G. (G), Olivieri, A. (A), Procaccio V., Iommarini L., Hooshiar Kashani B., Valentino ML, C. Orssaud, Procaccio, Vincent, Leo-Kottler B., Torroni Antonio, Moulignier A., Liguori, R. (R), Zeviani, Massimo, Carelli Valerio, Orssaud, Christophe, Hooshiar Kashani, B. (B), Leo Kottler B, Liguori, Rocco, De Negri, A. (A) M. (M), Antoine Moulignier, Barboni P, Piero Barboni (24591), Dominique Bonneau, Wissinger, B. (B), Pala, M. (M), P. Reynier, P. Amati-Bonneau, A. Olivieri, M. Zeviani, Pizza F., C. La Morgia, Federico Sadun (144922), S. Fauser, Barboni, Piero, Orssaud, C. (C), Pala, Maria, Sadun, Federico, Baharak Hooshiar Kashani (144912), Moulignier, Antoine, Fauser, S. (S), Anna Maria De Negri, F. Pizza, Antonio Torroni, Fabio Pizza (144919), Sadun F, Bonneau D, Barboni, P., R. Liguori, Fauser, S., Valentino, M., Amati-Bonneau, Patrizia, Dominique Bonneau (144939), Pascal Reynier (92729), De Negri, Anna Maria, Ghislaine Ducos (144931), H. Kashani, Moulignier A, Moulignier, A. (A), La Morgia, Chiara, Alessandro Achilli, Orssaud Christophe, Carelli, V. (V), Procaccio, V. (V), Fauser, Sascha, Beate Leo-Kottler (144941), Sadun, F. (F), De Negri Anna Maria, Reynier Pascal, Amati-Bonneau P., Federico Sadun, Vincent Procaccio (68193), Pala M., Carelli V., Helene Dollfus (144926), Pascal Reynier, La Morgia Chiara, Beate Leo-Kottler, F. Sadun, Sadun F., Fauser S, M. Pala, Anna Olivieri, Antonio Torroni (42164), Rocco Liguori (144916), H. Dollfus, Fauser S., Leo-Kottler, B., Maria Pala (144910), Olivieri Anna, Anna Olivieri (144908), Amati Bonneau P, de Negri, A., Ghislaine Ducos, Anna Maria De Negri (144924), Moulignier, A., Pala Maria, Luisa Iommarini, Kashani, Hooshiar, Liguori, R., Torroni A., Pala, M., Liguori R, D. Bonneau, Bonneau, Dominique, M.L. Valentino, A. Moulignier, Zeviani, M. (M), Ducos, Ghislaine, Olivieri A., Sascha Fauser, Olivieri, Anna, La Morgia, C. (C), Ducos, G., Antoine Moulignier (144928), Iommarini L, Orssaud C, Bonneau D., A.M. De Negri, Bernd Wissinger (24666), L. Iommarini, Leo-Kottler, Beate, Pizza, F., Valentino M. L., Reynier P, Barboni Piero, Ducos G, Olivieri, A., Ducos G., Bonneau Dominique, Iommarini, Luisa, Leo Kottler B., Reynier P., Orssaud C., Christophe Orssaud (144936), Amati Bonneau P., V. Carelli, V. Procaccio, Zeviani M., Valentino Maria Lucia, Sadun Federico, Dollfus, H. (Helene), Leo-Kottler, B. (B), Iommarini, L. (L), A. Torroni, Procaccio Vincent, B. Wissinger, Wissinger Bernd, Wissinger B, Torroni, A. (A), Achilli, Alessandro, Alessandro Achilli (42157), Liguori Rocco, Valentino, Maria Lucia, Patrizia Amati-Bonneau, Pizza Fabio, Moulignier Antoine, G. Ducos, Iommarini, L. +219 morecore +1 more sourceAnalysis of Intratumor Heterogeneity of EGFR Mutations in Mixed Type Lung Adenocarcinoma [PDF]
, 2013 Background: Epidermal growth factor receptor mutations are predictive of the success of EGFR tyrosine kinase inhibitor treatment in patients with advanced non-small-cell lung cancer.Nakamura, Yoichi, Mizoguchi, Kosuke, Tsukamoto, Kazuhiro, 朝永, 七枝, Nakatomi, Katsumi, Ikeda, Takaya, Tomonaga, Nanae, Nagayasu, Takeshi, Doi, Seiji, Kohno, Shigeru, Iida, Tetsuya, Yamaguchi, Hiroyuki, Motoshima, Kohei, Hayashi, Tomayoshi +13 morecore +1 more sourceEnteropathogenic E. coli shows delayed attachment and host response in human jejunum organoid‐derived monolayers compared to HeLa cells
FEBS Letters, EarlyView.Enteropathogenic E. coli (EPEC) infects the human intestinal epithelium, resulting in severe illness and diarrhoea. In this study, we compared the infection of cancer‐derived cell lines with human organoid‐derived models of the small intestine. We observed a delayed in attachment, inflammation and cell death on primary cells, indicating that host ...Mastura Neyazi, Pilar Samperio Ventayol, Natalie Burkard, Nicolas Schlegel, Carmen Aguilar, Sina Bartfeld +5 morewiley +1 more sourceTransforming growth factor-beta receptor mutations and pulmonary arterial hypertension in childhood
, 2005 BACKGROUND: Pulmonary arterial hypertension (PAH) is a potentially fatal vasculopathy that can develop at any age. Adult-onset disease has previously been associated with mutations in BMPR2 and ALK-1.Haworth, SG, Berger, R; id_orcid, Aldred, M A, Morrell, NW, Harrison, RE, Morrell, Nicholas W., Morrell, N W, Mache, CJ, Haworth, S G, Trembath, R C, Mache, Christoph J., Aldred, MA, Trembath, RC, Berger, Rolf, Aldred, Micheala A., Berger, R, Tulloh, R, Harrison, R E, Harrison, Rachel E., Haworth, Sheila G., Mache, C J, Trembath, Richard C., Tulloh, Robert +22 morecore +1 more sourceOrganoids in pediatric cancer research
FEBS Letters, EarlyView.Organoid technology has revolutionized cancer research, yet its application in pediatric oncology remains limited. Recent advances have enabled the development of pediatric tumor organoids, offering new insights into disease biology, treatment response, and interactions with the tumor microenvironment.Carla Ríos Arceo, Jarno Drostwiley +1 more sourceGermline mutations in the oncogene EZH2 cause Weaver syndrome and increased human height. [PDF]
, 2011 The biological processes controlling human growth are diverse, complex and poorly understood. Genetic factors are important and human height has been shown to be a highly polygenic trait to which common and rare genetic variation contributes.Cole, Trevor, Tatton-Brown, Katrina, Douglas, Jenny, Sheila Seal, Loveday, C, Patton, Michael, A Splitt, Ruark, E, Patricia Wheeler, Ra Hanks, Michael Patton, Murray, A, Katie Snape, Ramsay, Emma, Seal, Sheila, Clare Taylor, Ramsay, E, Volker Strenger, Taylor, C, Vivienne Mcconnell, Zachariou, A, Temple, KI, Loveday, Chey, Tatton-Brown, K, Patton, M, Temple, IK, Katrina Tatton-brown, Duarte, SDELV, Seal, S, Douglas, J, Jenny Douglas, Raith, W, Clericuzio, Carol, Temple, I. Karen, Magee, A, Anne Murray, Flinter, F, ?, ?, Splitt, Miranda, Banka, S, Rahman, N, Strenger, V, Flinter, Frances, Trevor Cole, Rankin, Julia, Carol Clericuzio, Snape, Katie, Zachariou, Anna, Temple, Karen I, Anna Zachariou, Murray, Anne, Splitt, M, Julia Rankin, Temple, Karen I., Nazneen Rahman, Elise Ruark, Wheeler, P, Magee, Alex, Childhood Overgrowth Collaboration, The Childhood Overgrowth, Strenger, Volker, Duarte, SDV, I Karen Temple, McConnell, Vivienne, Perdeaux, Elizabeth R, Banka, Siddharth, Clericuzio, C, Hanks, Sandra, Siddharth Banka, Del Vecchio Duarte, Frances Flinter, Wheeler, Patricia, Emma Ramsay, Ruark, Elise, Banka, Siddharth; id_orcid, McConnell, V, Elizabeth R, Perdeaux, ER, Cole, T, Taylor, Clare, Snape, K, Raith, Wolfgang, Chey Loveday, Rahman, Nazneen, Duarte, Silvana Del Vecchio, Hanks, S, Perdeaux, Elizabeth R., Alex Magee, Rankin, J +88 morecore +1 more sourceReciprocal control of viral infection and phosphoinositide dynamics
FEBS Letters, EarlyView.Phosphoinositides, although scarce, regulate key cellular processes, including membrane dynamics and signaling. Viruses exploit these lipids to support their entry, replication, assembly, and egress. The central role of phosphoinositides in infection highlights phosphoinositide metabolism as a promising antiviral target.Marie Déborah Bancilhon, Bruno Mesminwiley +1 more sourceAdherence as a predictor of the development of class-specific resistance mutations: the Swiss HIV Cohort Study [PDF]
, 2013 BACKGROUND: Non-adherence is one of the strongest predictors of therapeutic failure in HIV-positive patients. Virologic failure with subsequent emergence of resistance reduces future treatment options and long-term clinical success.
METHODS: Prospective Jürg Böni (36157), Yerly, Sabine, von Wyl Viktor, Alexandra Calmy (36005), Dunja Nicca (336117), Glass, Tracy R, Swiss HIV Cohort Study,, Hansjakob Furrer (93994), Günthard Huldrych F., Vincent Aubert (297526), Jürg Böni, Aubert Vincent, Calmy, Alexandra, Bucher, Heiner C, Huldrych F. Günthard (173082), Böni, J., Cavassini Matthias, Viktor von Wyl, Swiss HIV Cohort Study, Günthard, Huldrych F., Enos Bernasconi (174329), Furrer, Hansjakob, Heiner C Bucher, Klimkait, Thomas, Hansjakob Furrer, Alexandra Calmy, Calmy Alexandra, Aubert, Vincent, Glass, T.R., Sabine Yerly (82534), Dunja Nicca, Yerly, S., Bucher, Heiner C., Tracy R. Glass (134725), Yerly Ferrillo, Sabine, Bucher Heiner C., Tracy R Glass, Nicca, D., Bernasconi, E., Wainberg, Mark, Thomas Klimkait (178911), Calmy, A., Günthard, Huldrych F, Enos Bernasconi, Heiner C. Bucher (134728), Cavassini, M., Matthias Cavassini (146654), Aubert, V., Glass, Tracy R., Böni, Jürg, Klimkait Thomas, Thomas Klimkait, Glass Tracy R., Bernasconi, Enos, Nicca Dunja, von Wyl, Viktor, Nicca, Dunja, von Wyl, V., Furrer Hansjakob, Bernasconi Enos, Sabine Yerly, Furrer, H., Viktor von Wyl (146506), Günthard, H.F., Böni Jürg, Klimkait, T., Yerly Sabine, Vincent Aubert, Bucher, H.C., Huldrych F Günthard, Cavassini, Matthias, Matthias Cavassini +71 morecore +1 more sourcePhosphatidylinositol 4‐kinase as a target of pathogens—friend or foe?
FEBS Letters, EarlyView.This graphical summary illustrates the roles of phosphatidylinositol 4‐kinases (PI4Ks). PI4Ks regulate key cellular processes and can be hijacked by pathogens, such as viruses, bacteria and parasites, to support their intracellular replication. Their dual role as essential host enzymes and pathogen cofactors makes them promising drug targets.Ana C. Mendes, Guilherme M. Azevedo, Amanda P. Barcellos, Diana Bahia +3 morewiley +1 more source
