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Abstract 216: PCSK9 Loss-of-Function Mutation Q152H is Associated with Reduced Dietary Fat Clearance and Insulin Resistance in Humans
Wassef, Hanny, Bissonnette, Simon, Lamantia, Valerie, Cyr, Yannick, Chrétien, Michel, Faraj, May
Published in Arteriosclerosis, thrombosis, and vascular biology (01.05.2014)
Published in Arteriosclerosis, thrombosis, and vascular biology (01.05.2014)
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T130I mutation in HNF-4α gene is a loss-of-function mutation in hepatocytes and is associated with late-onset Type 2 diabetes mellitus in Japanese subjects
Zhu, Q., Yamagata, K., Miura, A., Shihara, N., Horikawa, Y., Takeda, J., Miyagawa, J., Matsuzawa, Y.
Published in Diabetologia (01.04.2003)
Published in Diabetologia (01.04.2003)
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Chromoanagenesis of chromosome 22 in a subject with obesity and borderline cognitive performance
Baldan, Federica, Demori, Eliana, Gnan, Chiara, Passon, Nadia, Damante, Giuseppe, Mio, Catia, Allegri, Lorenzo, Morgan, Anna, Girotto, Giorgia, De Paoli, Federica, Limongelli, Ivan, Zucca, Susanna, Faletra, Flavio
Published in Gene (15.01.2025)
Published in Gene (15.01.2025)
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TENT5D disruption causes oligoasthenoteratozoospermia and male infertility
Sha, Yanwei, Liu, Wensheng, Tang, Songxi, Zhang, Xiaoya, Xiao, Ziyi, Xiao, Yuwei, Deng, Hongjing, Zhou, Huiliang, Wei, Xiaoli
Published in Andrology (Oxford) (01.09.2023)
Published in Andrology (Oxford) (01.09.2023)
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Loss-of-function mutation R46L in the PCSK9 gene has little impact on the levels of total serum cholesterol in familial hypercholesterolemia heterozygotes
Strøm, Thea Bismo, Holla, Øystein L., Cameron, Jamie, Berge, Knut Erik, Leren, Trond P.
Published in Clinica chimica acta (01.02.2010)
Published in Clinica chimica acta (01.02.2010)
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Loss-of-function nuclear factor κB subunit 1 (NFKB1) variants are the most common monogenic cause of common variable immunodeficiency in Europeans
Tuijnenburg, Paul, Jansen, Machiel H., Carss, Keren J., Baxendale, Helen, Chandra, Anita, Seneviratne, Suranjith L., Oksenhendler, Eric, Tool, Anton T.J., Whitehorn, Deborah, Turro, Ernest, Thaventhiran, James E., Kuijpers, Taco W., Adhya, Zoe, Anantharachagan, Ariharan, Arumugakani, Gururaj, Bacchelli, Chiara, Baxendale, Helen, Bibi, Shahnaz, Booth, Claire, Browning, Michael, Burns, Siobhan, Clifford, Hayley, Cooper, Nichola, Davies, Sophie, Devlin, Lisa, Edgar, David, Egner, William, Ghurye, Rohit, Gilmour, Kimberley, Goddard, Sarah, Gordins, Pavel, Hackett, Scott, Hague, Rosie, Hayman, Grant, Jolles, Stephen, Jones, Julie, Kelleher, Peter, Klein, Nigel, Kuijpers, Taco, Kumararatne, Dinakantha, Laffan, James, Lango Allen, Hana, Lear, Sara, Longhurst, Hilary, Maimaris, Jesmeen, McDermott, Elizabeth, Morrisson, Valerie, Nasir, Iman, Noorani, Sadia, Oksenhendler, Eric, Ponsford, Mark, Qasim, Waseem, Quinn, Ellen, Quinti, Isabella, Samarghitean, Crina, Savic, Sinisa, Seneviratne, Suranjith, Simeoni, Ilenia, Staples, Emily, Steele, Cathal, Thaventhiran, James, Thomas, Moira, Thrasher, Adrian, Worth, Austen, Yong, Patrick, Bradley, John, Hammerton, Tracey, Ouwehand, Willem, Raymond, F Lucy, Veltman, Marijke, Clements-Brod, Naomi, Davis, John, Dewhurst, Eleanor, Erwood, Marie, Frary, Amy, Linger, Rachel, Papadia, Sofia, Rehnstrom, Karola, Astle, William, Attwood, Antony, Bleda, Marta, Carss, Keren, Daugherty, Louise, Deevi, Sri, Graf, Stefan, Greene, Daniel, Halmagyi, Csaba, Matser, Vera, Meacham, Stuart, Megy, Karyn, Shamardina, Olga, Titterton, Catherine, Tuna, Salih, Turro, Ernest, von Ziegenweldt, Julie, Furnell, Abigail, Staines, Simon, Stephens, Jonathan, Whitehorn, Deborah, Watt, Christopher
Published in Journal of allergy and clinical immunology (01.10.2018)
Published in Journal of allergy and clinical immunology (01.10.2018)
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Half a century of rising extinction risk of coral reef sharks and rays
Sherman, C. Samantha, Simpfendorfer, Colin A., Pacoureau, Nathan, Matsushiba, Jay H., Yan, Helen F., Walls, Rachel H. L., Rigby, Cassandra L., VanderWright, Wade J., Jabado, Rima W., Pollom, Riley A., Carlson, John K., Charvet, Patricia, Bin Ali, Ahmad, Fahmi, Cheok, Jessica, Derrick, Danielle H., Herman, Katelyn B., Finucci, Brittany, Eddy, Tyler D., Palomares, Maria Lourdes D., Avalos-Castillo, Christopher G., Kinattumkara, Bineesh, Blanco-Parra, María-del-Pilar, Dharmadi, Espinoza, Mario, Fernando, Daniel, Haque, Alifa B., Mejía-Falla, Paola A., Navia, Andrés F., Pérez-Jiménez, Juan Carlos, Utzurrum, Jean, Yuneni, Ranny R., Dulvy, Nicholas K.
Published in Nature communications (17.01.2023)
Published in Nature communications (17.01.2023)
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ANGPTL3 deficiency alters the lipid profile and metabolism of cultured hepatocytes and human lipoproteins
Ruhanen, Hanna, Haridas, P.A. Nidhina, Minicocci, Ilenia, Taskinen, Juuso H., Palmas, Francesco, di Costanzo, Alessia, D'Erasmo, Laura, Metso, Jari, Partanen, Jennimari, Dalli, Jesmond, Zhou, You, Arca, Marcello, Jauhiainen, Matti, Käkelä, Reijo, Olkkonen, Vesa M.
Published in Biochimica et biophysica acta. Molecular and cell biology of lipids (01.07.2020)
Published in Biochimica et biophysica acta. Molecular and cell biology of lipids (01.07.2020)
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Response to Zhang et al. (2005): loss-of-function mutation in tryptophan hydroxylase-2 identified in unipolar major depression. Neuron 45, 11-16
Glatt, Charles E, Carlson, Elaine, Taylor, Travis R, Risch, Neil, Reus, Victor I, Schaefer, Catherine A
Published in Neuron (Cambridge, Mass.) (08.12.2005)
Published in Neuron (Cambridge, Mass.) (08.12.2005)
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Loss-of-Function Myeloperoxidase Mutations Are Associated with Increased Neutrophil Counts and Pustular Skin Disease
Vergnano, Marta, Mockenhaupt, Maja, Benzian-Olsson, Natashia, Paulmann, Maren, Grys, Katarzyna, Mahil, Satveer K., Chaloner, Charlotte, Barbosa, Ines A., August, Suzannah, Burden, A. David, Choon, Siew-Eng, Cooper, Hywel, Navarini, Alex A., Reynolds, Nick J., Wahie, Shyamal, Warren, Richard B., Wright, Andrew, Abraham, Thamir, Ali, Mahmud, August, Suzannah, Baudry, David, Bewley, Anthony, Cooper, Hywel, Griffiths, Christopher E.M., Ingram, John, Kelly, Susan, Korshid, Mohsen, Ladoyanni, Effie, McKenna, John, Meynell, Freya, Parslew, Richard, Patel, Prakash, Pushparajah, Angela, Reynolds, Nick, Smith, Catherine, Wahie, Shyamal, Warren, Richard, Wright, Andrew, Huffmeier, Ulrike, Baum, Patrick, Visvanathan, Sudha, Barker, Jonathan N., Smith, Catherine H., Capon, Francesca
Published in American journal of human genetics (03.09.2020)
Published in American journal of human genetics (03.09.2020)
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Biallelic Mutations in ATP5F1D, which Encodes a Subunit of ATP Synthase, Cause a Metabolic Disorder
Yoon, Wan Hee, Jangam, Sharayu, Davidson, Jean M., Grove, Megan E., Kohler, Jennefer N., Holmes, Matthew, Zhao, Chunli, Contrepois, Kévin, Heyman, Heino M., Webb-Robertson, Bobbie-Jo M., Alejandro, Mercedes E., Allard, Patrick, Balasubramanyam, Ashok, Barseghyan, Hayk, Bican, Anna, Birch, Camille L., Bostwick, Bret L., Briere, Lauren C., Brown, Donna M., Brush, Matthew, Burke, Elizabeth A., Burrage, Lindsay C., Cooper, Cynthia M., Cope, Heidi, Craigen, William J., D’Souza, Precilla, Dayal, Jyoti G., Dell’Angelica, Esteban C., Dorset, Daniel C., Draper, David D., Eckstein, David J., Emrick, Lisa T., Esteves, Cecilia, Estwick, Tyra, Ferreira, Carlos, Glanton, Emily, Godfrey, Rena A., Goldstein, David B., Gould, Sarah E., Gourdine, Jean-Philippe F., Hanchard, Neil A., Herzog, Matthew R., Hom, Jason, Howerton, Ellen M., Huang, Yong, Jacob, Howard J., Jiang, Yong-hui, Johnston, Jean M., Jones, Angela L., Kohane, Isaac S., Krier, Joel B., Lazar, Jozef, Lee, Hane, Levy, Shawn E., Lincoln, Sharyn A., Loo, Sandra K., Loscalzo, Joseph, Maas, Richard L., MacRae, Calum A., Majcherska, Marta M., Mamounas, Laura A., Manolio, Teri A., Markello, Thomas C., Marom, Ronit, May, Thomas, McConkie-Rosell, Allyn, McCray, Alexa T., Moretti, Paolo M., Novacic, Donna, Orange, Jordan S., Palmer, Christina G.S., Potocki, Lorraine, Pusey, Barbara N., Robertson, Amy K., Rodan, Lance H., Rosenfeld, Jill A., Samson, Susan L., Schoch, Kelly, Schroeder, Molly C., Shashi, Vandana, Silverman, Edwin K., Sinsheimer, Janet S., Spillmann, Rebecca C., Stong, Nicholas, Tifft, Cynthia J., Tran, Alyssa A., Valivullah, Zaheer M., Ward, Patricia A., Yamamoto, Shinya, Snyder, Michael, Merker, Jason D., Fisher, Paul G., Mayr, Johannes A., Morris, Andrew A., Schelley, Susan, Friederich, Marisa W., Yamamoto, Shinya, Wangler, Michael F., Taylor, Robert W., Bernstein, Jonathan A.
Published in American journal of human genetics (01.03.2018)
Published in American journal of human genetics (01.03.2018)
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Exposure to phenols, parabens and UV filters: Associations with loss-of-function mutations in the filaggrin gene in men from the general population
Joensen, Ulla N., Jørgensen, Niels, Thyssen, Jacob P., Petersen, Jørgen Holm, Szecsi, Pal B., Stender, Steen, Andersson, Anne-Maria, Skakkebæk, Niels E., Frederiksen, Hanne
Published in Environment international (01.08.2017)
Published in Environment international (01.08.2017)
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VLDL (Very-Low-Density Lipoprotein)-Apo E (Apolipoprotein E) May Influence Lp(a) (Lipoprotein [a]) Synthesis or Assembly
Croyal, Mikaël, Blanchard, Valentin, Ouguerram, Khadija, Chétiveaux, Maud, Cabioch, Léa, Moyon, Thomas, Billon-Crossouard, Stéphanie, Aguesse, Audrey, Bernardeau, Karine, Le May, Cédric, Flet, Laurent, Lambert, Gilles, Hadjadj, Samy, Cariou, Bertrand, Krempf, Michel, Nobécourt-Dupuy, Estelle
Published in Arteriosclerosis, thrombosis, and vascular biology (01.03.2020)
Published in Arteriosclerosis, thrombosis, and vascular biology (01.03.2020)
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Genotype–phenotype associations among panel-based TP53+ subjects
Rana, Huma Q., Clifford, Jacob, Hoang, Lily, LaDuca, Holly, Black, Mary Helen, Li, Shuwei, McGoldrick, Kelly, Speare, Virginia, Dolinsky, Jill S., Gau, Chia-Ling, Garber, Judy E.
Published in Genetics in medicine (01.11.2019)
Published in Genetics in medicine (01.11.2019)
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Novel loss-of-function variants expand ABCC9-related intellectual disability and myopathy syndrome
Efthymiou, Stephanie, Scala, Marcello, Nagaraj, Vini, Ochenkowska, Katarzyna, Komdeur, Fenne L, Liang, Robin A, Abdel-Hamid, Mohamed S, Sultan, Tipu, Barøy, Tuva, Van Ghelue, Marijke, Vona, Barbara, Maroofian, Reza, Zafar, Faisal, Alkuraya, Fowzan S, Zaki, Maha S, Severino, Mariasavina, Duru, Kingsley C, Tryon, Robert C, Brauteset, Lin Vigdis, Ansari, Morad, Hamilton, Mark, van Haelst, Mieke M, van Haaften, Gijs, Zara, Federico, Houlden, Henry, Samarut, Éric, Nichols, Colin G, Smeland, Marie F, McClenaghan, Conor
Published in Brain (London, England : 1878) (03.05.2024)
Published in Brain (London, England : 1878) (03.05.2024)
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Loss of TBC1D2B causes a progressive neurological disorder with gingival overgrowth
Harms, Frederike L., Rexach, Jessica Erin, Efthymiou, Stephanie, Aynekin, Busra, Per, Hüseyin, Güleç, Ayten, Nampoothiri, Sheela, Sampaio, Hugo, Sachdev, Rani, Stoeva, Radka, Myers, Kasiani, Pena, Loren D. M., Kalfa, Theodosia A., Chard, Marisa, Klassen, Megan, Pries, Megan, Kutsche, Kerstin
Published in European journal of human genetics : EJHG (01.05.2024)
Published in European journal of human genetics : EJHG (01.05.2024)
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Genetic Variants in SGLT1, Glucose Tolerance, and Cardiometabolic Risk
Seidelmann, Sara B., Feofanova, Elena, Yu, Bing, Franceschini, Nora, Claggett, Brian, Kuokkanen, Mikko, Puolijoki, Hannu, Ebeling, Tapani, Perola, Markus, Salomaa, Veikko, Shah, Amil, Coresh, Josef, Selvin, Elizabeth, MacRae, Calum A., Cheng, Susan, Boerwinkle, Eric, Solomon, Scott D.
Published in Journal of the American College of Cardiology (09.10.2018)
Published in Journal of the American College of Cardiology (09.10.2018)
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