Characterization of Vps13b-mutant mice reveals neuroanatomical and behavioral phenotypes with females less affected

Authors: Montillot, Charlotte, Skutunova, Emilia, Ayushma, Dubied, Morgane, Lahmar, Adam, Nguyen, Sylvie, Peerally, Benazir, Prin, Fabrice, Duffourd, Yannis, Thauvin-Robinet, Christel, Duplomb, Laurence, Wang, Heng, Ansar, Muhammad, Faivre, Laurence, Navarro, Nicolas, Minocha, Shilpi, Collins, Stephan C., Yalcin, Binnaz

Source: In Neurobiology of Disease September 2023 185

Bi-allelic loss-of-function variants in TMEM147 cause moderate to profound intellectual disability with facial dysmorphism and pseudo-Pelger-Huët anomaly

Authors: Thomas, Quentin, Motta, Marialetizia, Gautier, Thierry, Zaki, Maha S., Ciolfi, Andrea, Paccaud, Julien, Girodon, François, Boespflug-Tanguy, Odile, Besnard, Thomas, Kerkhof, Jennifer, McConkey, Haley, Masson, Aymeric, Denommé-Pichon, Anne-Sophie, Cogné, Benjamin, Trochu, Eva, Vignard, Virginie, El It, Fatima, Rodan, Lance H., Alkhateeb, Mohammad Ayman, Jamra, Rami Abou, Duplomb, Laurence, Tisserant, Emilie, Duffourd, Yannis, Bruel, Ange-Line, Jackson, Adam, Banka, Siddharth, McEntagart, Meriel, Saggar, Anand, Gleeson, Joseph G., Sievert, David, Bae, Hyunwoo, Lee, Beom Hee, Kwon, Kisang, Seo, Go Hun, Lee, Hane, Saeed, Anjum, Anjum, Nadeem, Cheema, Huma, Alawbathani, Salem, Khan, Imran, Pinto-Basto, Jorge, Teoh, Joyce, Wong, Jasmine, Sahari, Umar Bin Mohamad, Houlden, Henry, Zhelcheska, Kristina, Pannetier, Melanie, Awad, Mona A., Lesieur-Sebellin, Marion, Barcia, Giulia, Amiel, Jeanne, Delanne, Julian, Philippe, Christophe, Faivre, Laurence, Odent, Sylvie, Bertoli-Avella, Aida, Thauvin, Christel, Sadikovic, Bekim, Reversade, Bruno, Maroofian, Reza, Govin, Jérôme, Tartaglia, Marco, Vitobello, Antonio

Source: American journal of human genetics. 109(10):1909-1922

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Haploinsufficiency of ARFGEF1 is associated with developmental delay, intellectual disability, and epilepsy with variable expressivity

Authors: Thomas, Quentin, Gautier, Thierry, Marafi, Dana, Besnard, Thomas, Willems, Marjolaine, Moutton, Sébastien, Isidor, Bertand, Cogné, Benjamin, Conrad, Solène, Tenconi, Romano, Iascone, Maria, Sorlin, Arthur, Masurel, Alice, Dabir, Tabib, Jackson, Adam, Banka, Siddharth, Delanne, Julian, Lupski, James R., Saadi, Nebal Waill, Alkuraya, Fowzan S., Zahrani, Fatema Al, Agrawal, Pankaj B. ^{22, 23}, England, Eleina ²⁴, Madden, Jill A. ²⁵, Posey, Jennifer E. ²⁶, Burglen, Lydie ^{27, 28}, Rodriguez, Diana ²⁹, Chevarin, Martin, Nguyen, Sylvie, Mau-Them, Frédéric Tran, Duffourd, Yannis, Garret, Philippine, Bruel, Ange-Line, Callier, Patrick, Marle, Nathalie, Denomme-Pichon, Anne-Sophie, Duplomb, Laurence, Philippe, Christophe, Thauvin-Robinet, Christel ³⁰, Govin, Jérôme, Faivre, Laurence, Vitobello, Antonio

Source: In Genetics in Medicine October 2021 23(10):1901-1911

Periodontal disorders in a cohort of patients with Cohen syndrome

Authors: Lafon, Arnaud, Faivre, Laurence, Seux, Dominique, Gautier, Elodie, Duplomb, Laurence, Grogogeat, Brigitte, Marcelet, Anahide, Laforest, Laurent

Source: Special care in dentistry. 41(1):118-124

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Neutralization of HSF1 in cells from PIK3CA-related overgrowth spectrum patients blocks abnormal proliferation

Authors: Da Costa, Romain, De Almeida, Steven, Chevarin, Martin, Hadj-Rabia, Smail, Leclerc-Mercier, Stéphanie, Thauvin-Robinet, Christel, Garrido, Carmen, Faivre, Laurence, Vabres, Pierre, Duplomb, Laurence, Jego, Gaëtan

Source: Biochemical and biophysical research communications. 530(3):520-526

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100128435454.0x000001&indx=1&recIds=ETOCvdc_100128435454.0x000001

Report of the first patient with a homozygous OTUD7A variant responsible for epileptic encephalopathy and related proteasome dysfunction

Authors: Garret, Philippine, Ebstein, Frédéric, Delplancq, Geoffroy, Dozieres‐Puyravel, Blandine, Boughalem, Aïcha, Auvin, Stéphane, Duffourd, Yannis, Klafack, Sandro, Zieba, Barbara A., Mahmoudi, Sana, Singh, Karun K., Duplomb, Laurence, Thauvin‐Robinet, Christel, Costa, Jean‐Marc, Krüger, Elke, Trost, Detlef, Verloes, Alain, Faivre, Laurence, Vitobello, Antonio

Source: Clinical genetics. 97(4):567-575

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100106682971.0x000001&indx=1&recIds=ETOCvdc_100106682971.0x000001

Vps13b is required for acrosome biogenesis through functions in Golgi dynamic and membrane trafficking

Authors: Da Costa, Romain, Bordessoules, Morgane, Guilleman, Magali, Carmignac, Virginie, Lhussiez, Vincent, Courot, Hortense, Bataille, Amandine, Chlémaire, Amandine, Bruno, Céline, Fauque, Patricia, Thauvin, Christel, Faivre, Laurence, Duplomb, Laurence

Source: Cellular and molecular life sciences. 77(3):511-529

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100161903347.0x000001&indx=1&recIds=ETOCvdc_100161903347.0x000001

Des organoïdes cérébraux pour la compréhension et la thérapie des maladies génétiques rares avec troubles neurodéveloppementaux. (French)

Alternate Title: The contribution of cerebral organoids to the understanding and treatment of rare genetic diseases with neurodevelopmental disorders. (English)

Authors: El It, Fatima, Faivre, Laurence, Thauvin-Robinet, Christel, Vitobello, Antonio, Duplomb, Laurence

Source: Médecine Sciences; aou/sep2024, Vol. 40 Issue 8/9, p643-652, 10p

Serpin B1 defect and increased apoptosis of neutrophils in Cohen syndrome neutropenia

Authors: Duplomb, Laurence, Rivière, Julie, Jego, Gaëtan, Da Costa, Romain, Hammann, Arlette, Racine, Jessica, Schmitt, Alain, Droin, Nathalie, Capron, Claude, Gougerot-Pocidalo, Marie-Anne, Dubrez, Laurence, Aral, Bernard, Lafon, Arnaud, Edery, Patrick, Ghoumid, Jamal, Blair, Edward, El Chehadeh-Djebbar, Salima, Carmignac, Virginie, Thevenon, Julien, Guy, Julien, Girodon, François, Bastie, Jean-Noël, Delva, Laurent, Faivre, Laurence, Thauvin-Robinet, Christel, Solary, Eric

Source: Journal of molecular medicine. 97(5):633-645

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Hyperleptinemia Prevents Lipotoxic Cardiomyopathy in Acyl CoA Synthase Transgenic Mice

Authors: Lee, Young, Naseem, R. Haris, Duplomb, Laurence, Park, Byung-Hyun, Garry, Daniel J., Richardson, James A., Schaffer, Jean E., Unger, Roger H.

Source: Proceedings of the National Academy of Sciences of the United States of America, 2004 Sep . 101(37), 13624-13629.

Access URL: https://www.jstor.org/stable/3373361

Hepatic Insig-1 or -2 Overexpression Reduces Lipogenesis in Obese Zucker Diabetic Fatty Rats and in Fasted/Refed Normal Rats

Authors: Takaishi, Kiyosumi, Duplomb, Laurence, Wang, May-Yun, Li, Jinping, Unger, Roger H.

Source: Proceedings of the National Academy of Sciences of the United States of America, 2004 May 01. 101(18), 7106-7111.

Access URL: https://www.jstor.org/stable/3372060

A first-in-class inhibitor of HSP110 to potentiate XPO1-targeted therapy in primary mediastinal B-cell lymphoma and classical Hodgkin lymphoma.

Authors: Durand, Manon, Cabaud Gibouin, Vincent, Duplomb, Laurence, Salmi, Leila, Caillot, Mélody, Sola, Brigitte, Camus, Vincent, Jardin, Fabrice, Garrido, Carmen, Jego, Gaëtan

Source: Journal of Experimental & Clinical Cancer Research (17569966); 5/22/2024, Vol. 43 Issue 1, p1-16, 16p

Subject Terms: HODGKIN'S disease, HEMATOLOGIC malignancies, STAT proteins, CELLULAR signal transduction, CELL size, TALL-1 (Protein)

Osteoprotegerin: Multiple partners for multiple functions

Authors: Baud’huin, Marc, Duplomb, Laurence, Teletchea, Stéphane, Lamoureux, François, Ruiz-Velasco, Carmen, Maillasson, Mike, Redini, Françoise, Heymann, Marie-Françoise, Heymann, Dominique

Source: In Cytokine and Growth Factor Reviews October 2013 24(5):401-409

Glycosaminoglycans inhibit the adherence and the spreading of osteoclasts and their precursors: Role in osteoclastogenesis and bone resorption

Authors: Baud’huin, Marc, Ruiz-Velasco, Carmen, Jego, Gaëtan, Charrier, Céline, Gasiunas, Nijole, Gallagher, John, Maillasson, Mike, Naggi, Annamaria, Padrines, Marc, Redini, Françoise, Duplomb, Laurence, Heymann, Dominique

Source: In European Journal of Cell Biology 2011 90(1):49-57

Differentiation of Osteoblasts from Mouse Embryonic Stem Cells without Generation of Embryoid Body

Authors: Duplomb, Laurence, Dagouassat, Maylis, Jourdon, Philippe, Heymann, Dominique

Source: In Vitro Cellular & Developmental Biology. Animal, 2007 Jan 01. 43(1), 21-24.

Access URL: https://www.jstor.org/stable/40205773

In-Frame Mutations in Exon 1 of SKI Cause Dominant Shprintzen-Goldberg Syndrome

Authors: Carmignac, Virginie, Thevenon, Julien, Adès, Lesley, Callewaert, Bert, Julia, Sophie, Thauvin-Robinet, Christel, Gueneau, Lucie, Courcet, Jean-Benoit, Lopez, Estelle, Holman, Katherine, Renard, Marjolijn, Plauchu, Henri, Plessis, Ghislaine, De Backer, Julie, Child, Anne, Arno, Gavin, Duplomb, Laurence, Callier, Patrick, Aral, Bernard, Vabres, Pierre, Gigot, Nadège, Arbustini, Eloisa, Grasso, Maurizia, Robinson, Peter N., Goizet, Cyril, Baumann, Clarisse, Di Rocco, Maja, Sanchez Del Pozo, Jaime, Huet, Frédéric, Jondeau, Guillaume, Collod-Beroud, Gwenaëlle, Beroud, Christophe, Amiel, Jeanne, Cormier-Daire, Valérie, Rivière, Jean-Baptiste, Boileau, Catherine, De Paepe, Anne, Faivre, Laurence

Source: American journal of human genetics. 91(5):950-957

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100065632603.0x000001&indx=1&recIds=ETOCvdc_100065632603.0x000001

Factor VIII-von Willebrand Factor Complex Inhibits Osteoclastogenesis and Controls Cell Survival

Authors: Baud'huin, Marc, Duplomb, Laurence, Téletchéa, Stéphane, Charrier, Céline, Maillasson, Mike, Fouassier, Marc ^**, Heymann, Dominique

Source: In Journal of Biological Chemistry 13 November 2009 284(46):31704-31713

Long term oncostatin M treatment induces an osteocyte-like differentiation on osteosarcoma and calvaria cells

Authors: Brounais, Bénédicte, David, Emmanuelle, Chipoy, Céline, Trichet, Valérie, Ferré, Virginie, Charrier, Céline, Duplomb, Laurence, Berreur, Martine, Rédini, Françoise, Heymann, Dominique, Blanchard, Frédéric ^⁎

Source: In Bone May 2009 44(5):830-839

The dual role of IL-6-type cytokines on bone remodeling and bone tumors

Authors: Blanchard, Frédéric, Duplomb, Laurence, Baud’huin, Marc, Brounais, Bénédicte

Source: In Cytokine and Growth Factor Reviews 2009 20(1):19-28

Extracellular HSP110 skews macrophage polarization in colorectal cancer

Authors: Berthenet, Kevin, Boudesco, Christophe, Collura, Ada, Svrcek, Magali, Richaud, Sarah, Hammann, Arlette, Causse, Sebastien, Yousfi, Nadhir, Wanherdrick, Kristell, Duplomb, Laurence, Duval, Alex, Garrido, Carmen, Jego, Gaetan

Source: Oncoimmunology. 5(7)

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100042863071.0x000001&indx=1&recIds=ETOCvdc_100042863071.0x000001