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Regulatory T-cell deficiency and immune dysregulation, polyendocrinopathy, enteropathy, X-linked–like disorder caused by loss-of-function mutations in LRBA
Charbonnier, Louis-Marie, Janssen, Erin, Chou, Janet, Ohsumi, Toshiro K., Keles, Sevgi, Hsu, Joyce T., Massaad, Michel J., Garcia-Lloret, Maria, Hanna-Wakim, Rima, Dbaibo, Ghassan, Alangari, Abdullah A., Alsultan, Abdulrahman, Al-Zahrani, Daifulah, Geha, Raif S., Chatila, Talal A.
Published in Journal of allergy and clinical immunology (01.01.2015)
Published in Journal of allergy and clinical immunology (01.01.2015)
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Journal Article
Loss-of-function mutations in MICU1 cause a brain and muscle disorder linked to primary alterations in mitochondrial calcium signaling
Logan, Clare V, Szabadkai, György, Sharpe, Jenny A, Parry, David A, Torelli, Silvia, Childs, Anne-Marie, Kriek, Marjolein, Phadke, Rahul, Johnson, Colin A, Roberts, Nicola Y, Bonthron, David T, Pysden, Karen A, Whyte, Tamieka, Munteanu, Iulia, Foley, A Reghan, Wheway, Gabrielle, Szymanska, Katarzyna, Natarajan, Subaashini, Abdelhamed, Zakia A, Morgan, Joanne E, Roper, Helen, Santen, Gijs W E, Niks, Erik H, van der Pol, W Ludo, Lindhout, Dick, Raffaello, Anna, De Stefani, Diego, den Dunnen, Johan T, Sun, Yu, Ginjaar, Ieke, Sewry, Caroline A, Hurles, Matthew, Rizzuto, Rosario, Duchen, Michael R, Muntoni, Francesco, Sheridan, Eamonn
Published in Nature genetics (01.02.2014)
Published in Nature genetics (01.02.2014)
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Journal Article
JAKs and STATs from a Clinical Perspective: Loss-of-Function Mutations, Gain-of-Function Mutations, and Their Multidimensional Consequences
Ott, Nils, Faletti, Laura, Heeg, Maximilian, Andreani, Virginia, Grimbacher, Bodo
Published in Journal of clinical immunology (01.08.2023)
Published in Journal of clinical immunology (01.08.2023)
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Journal Article
Loss-of-Function Mutations of CYP24A1 , the Vitamin D 24-Hydroxylase Gene, Cause Long-standing Hypercalciuric Nephrolithiasis and Nephrocalcinosis
Dinour, Dganit, Beckerman, Pazit, Ganon, Liat, Tordjman, Karen, Eisenstein, Zemach, Holtzman, Eli J
Published in The Journal of urology (01.08.2013)
Published in The Journal of urology (01.08.2013)
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Journal Article
KLF13 Loss‐of‐Function Mutations Underlying Familial Dilated Cardiomyopathy
Guo, Yu‐Han, Wang, Jun, Guo, Xiao‐Juan, Gao, Ri‐Feng, Yang, Chen‐Xi, Li, Li, Sun, Yu‐Min, Qiu, Xing‐Biao, Xu, Ying‐Jia, Yang, Yi‐Qing
Published in Journal of the American Heart Association (15.11.2022)
Published in Journal of the American Heart Association (15.11.2022)
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Journal Article
Loss‐of‐function mutations in ISCA2 disrupt 4Fe–4S cluster machinery and cause a fatal leukodystrophy with hyperglycinemia and mtDNA depletion
Alaimo, Joseph T., Besse, Arnaud, Alston, Charlotte L., Pang, Ki, Appadurai, Vivek, Samanta, Monisha, Smpokou, Patroula, McFarland, Robert, Taylor, Robert W., Bonnen, Penelope E.
Published in Human mutation (01.04.2018)
Published in Human mutation (01.04.2018)
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Journal Article
PRRX1 Loss‐of‐Function Mutations Underlying Familial Atrial Fibrillation
Guo, Xiao‐Juan, Qiu, Xing‐Biao, Wang, Jun, Guo, Yu‐Han, Yang, Chen‐Xi, Li, Li, Gao, Ri‐Feng, Ke, Zun‐Ping, Di, Ruo‐Min, Sun, Yu‐Min, Xu, Ying‐Jia, Yang, Yi‐Qing
Published in Journal of the American Heart Association (07.12.2021)
Published in Journal of the American Heart Association (07.12.2021)
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Journal Article
Somatic mutations in telomerase promoter counterbalance germline loss-of-function mutations
Maryoung, Lindley, Yue, Yangbo, Young, Ashley, Newton, Chad A., Barba, Cindy, van Oers, Nicolai S.C., Wang, Richard C., Garcia, Christine Kim
Published in The Journal of clinical investigation (01.03.2017)
Published in The Journal of clinical investigation (01.03.2017)
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Journal Article
Contact dermatitis in the construction industry: the role of filaggrin loss-of-function mutations
Timmerman, J.G., Heederik, D., Spee, T., van Rooy, F.G., Krop, E.J.M., Koppelman, G.H., Rustemeyer, T., Smit, L.A.M.
Published in British journal of dermatology (1951) (01.02.2016)
Published in British journal of dermatology (1951) (01.02.2016)
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Journal Article
Impact of atopic dermatitis and loss-of-function mutations in the filaggrin gene on the development of occupational irritant contact dermatitis
Visser, M.J., Landeck, L., Campbell, L.E., McLean, W.H.I., Weidinger, S., Calkoen, F., John, S.M., Kezic, S.
Published in British journal of dermatology (1951) (01.02.2013)
Published in British journal of dermatology (1951) (01.02.2013)
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Journal Article
Loss-of-Function Mutations in ABCA1 and Enhanced β-Cell Secretory Capacity in Young Adults
Rickels, Michael R., Goeser, Eugen S., Fuller, Carissa, Lord, Christine, Bowler, Anne M., Doliba, Nicolai M., Hegele, Robert A., Cuchel, Marina
Published in Diabetes (New York, N.Y.) (01.01.2015)
Published in Diabetes (New York, N.Y.) (01.01.2015)
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Journal Article
Acromesomelic dysplasia, type maroteaux caused by novel loss-of-function mutations of the NPR2 gene: Three case reports
Wang, Wei, Song, Mi Hyun, Miura, Kohji, Fujiwara, Makoto, Nawa, Nobutoshi, Ohata, Yasuhisa, Kitaoka, Taichi, Kubota, Takuo, Namba, Noriyuki, Jin, Dong Kyu, Kim, Ok Hwa, Ozono, Keiichi, Cho, Tae-Joon
Published in American journal of medical genetics. Part A (01.02.2016)
Published in American journal of medical genetics. Part A (01.02.2016)
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Journal Article
Bone Morphogenetic Protein Receptor-2 Signaling Promotes Pulmonary Arterial Endothelial Cell Survival: Implications for Loss-of-Function Mutations in the Pathogenesis of Pulmonary Hypertension
Teichert-Kuliszewska, Krystyna, Kutryk, Michael J.B., Kuliszewski, Michael A., Karoubi, Golnaz, Courtman, David W., Zucco, Liana, Granton, John, Stewart, Duncan J.
Published in Circulation research (03.02.2006)
Published in Circulation research (03.02.2006)
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Journal Article
Bi‐allelic recessive loss‐of‐function mutations in FIGLA cause premature ovarian insufficiency with short stature
Yuan, Ping, He, Zuyong, Sun, Silong, Li, Yu, Wang, Wenjun, Liang, Xinyu, Xie, Xuefeng, Jiang, Yiqi, Yang, Dongzi
Published in Clinical genetics (01.03.2019)
Published in Clinical genetics (01.03.2019)
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Journal Article
Filaggrin loss-of-function mutations are associated with enhanced expression of IL-1 cytokines in the stratum corneum of patients with atopic dermatitis and in a murine model of filaggrin deficiency
Kezic, Sanja, O’Regan, Gráinne M., Lutter, René, Jakasa, Ivone, Koster, Ellen S., Saunders, Sean, Caspers, Peter, Kemperman, Patrick M.J.H., Puppels, Gerwin J., Sandilands, Aileen, Chen, Huijia, Campbell, Linda E., Kroboth, Karin, Watson, Rosemarie, Fallon, Padraic G., McLean, W. H. Irwin, Irvine, Alan D.
Published in Journal of allergy and clinical immunology (01.04.2012)
Published in Journal of allergy and clinical immunology (01.04.2012)
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Journal Article
Skin Barrier Function in Healthy Subjects and Patients with Atopic Dermatitis in Relation to Filaggrin Loss-of-Function Mutations
Jakasa, Ivone, Koster, Ellen S., Calkoen, F., Irwin McLean, W.H., Campbell, Linda E., Bos, Jan D., Verberk, Maarten M., Kezic, Sanja
Published in Journal of investigative dermatology (01.02.2011)
Published in Journal of investigative dermatology (01.02.2011)
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Journal Article
Characterization of Three Kindreds With Familial Combined Hypolipidemia Caused by Loss-of-Function Mutations of ANGPTL3
Pisciotta, Livia, Favari, Elda, Magnolo, Lucia, Simonelli, Sara, Adorni, Maria Pia, Sallo, Raffaella, Fancello, Tatiana, Zavaroni, Ivana, Ardigò, Diego, Bernini, Franco, Calabresi, Laura, Franceschini, Guido, Tarugi, Patrizia, Calandra, Sebastiano, Bertolini, Stefano
Published in Circulation. Cardiovascular genetics (01.02.2012)
Published in Circulation. Cardiovascular genetics (01.02.2012)
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Journal Article
Loss-of-Function Mutations in the Cell-Cycle Control Gene CDKN2A Impact on Glucose Homeostasis in Humans
Pal, Aparna, Potjer, Thomas P., Thomsen, Soren K., Ng, Hui Jin, Barrett, Amy, Scharfmann, Raphael, James, Tim J., Bishop, D. Timothy, Karpe, Fredrik, Godsland, Ian F., Vasen, Hans F.A., Newton-Bishop, Julia, Pijl, Hanno, McCarthy, Mark I., Gloyn, Anna L.
Published in Diabetes (New York, N.Y.) (01.02.2016)
Published in Diabetes (New York, N.Y.) (01.02.2016)
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Journal Article