TY - JOUR AU - Ye, J. PY - 2013 DA - 2013// TI - Roles of regulated intramembrane proteolysis in virus infection and antiviral immunity JO - Biochim Biophys Acta VL - 1828 UR - https://doi.org/10.1016/j.bbamem.2013.05.005 DO - 10.1016/j.bbamem.2013.05.005 ID - Ye2013 ER - TY - JOUR AU - Brown, M. S. AU - Ye, J. AU - Rawson, R. B. AU - Goldstein, J. L. PY - 2000 DA - 2000// TI - Regulated intramembrane proteolysis: a control mechanism conserved from bacteria to humans JO - Cell VL - 100 UR - https://doi.org/10.1016/S0092-8674(00)80675-3 DO - 10.1016/S0092-8674(00)80675-3 ID - Brown2000 ER - TY - JOUR AU - Lindert, U. AU - Cabral, W. A. AU - Ausavarat, S. AU - Tongkobpetch, S. AU - Ludin, K. AU - Barnes, A. M. PY - 2016 DA - 2016// TI - MBTPS2 mutations cause defective regulated intramembrane proteolysis in X-linked osteogenesis imperfecta JO - Nat Commun VL - 7 UR - https://doi.org/10.1038/ncomms11920 DO - 10.1038/ncomms11920 ID - Lindert2016 ER - TY - JOUR AU - Murphy, G. AU - Murthy, A. AU - Khokha, R. PY - 2008 DA - 2008// TI - Clipping, shedding and RIPping keep immunity on cue JO - Trends Immunol VL - 29 UR - https://doi.org/10.1016/j.it.2007.10.009 DO - 10.1016/j.it.2007.10.009 ID - Murphy2008 ER - TY - JOUR AU - Ehlers, M. R. AU - Riordan, J. F. PY - 1991 DA - 1991// TI - Membrane proteins with soluble counterparts: role of proteolysis in the release of transmembrane proteins JO - Biochemistry VL - 30 UR - https://doi.org/10.1021/bi00106a001 DO - 10.1021/bi00106a001 ID - Ehlers1991 ER - TY - JOUR AU - Lichtenthaler, S. F. AU - Steiner, H. PY - 2007 DA - 2007// TI - Sheddases and intramembrane-cleaving proteases: RIPpers of the membrane. Symposium on regulated intramembrane proteolysis JO - EMBO Rep. VL - 8 UR - https://doi.org/10.1038/sj.embor.7400978 DO - 10.1038/sj.embor.7400978 ID - Lichtenthaler2007 ER - TY - JOUR AU - Urban, S. PY - 2009 DA - 2009// TI - Making the cut: central roles of intramembrane proteolysis in pathogenic microorganisms JO - Nat Rev Microbiol VL - 7 UR - https://doi.org/10.1038/nrmicro2130 DO - 10.1038/nrmicro2130 ID - Urban2009 ER - TY - JOUR AU - Sakai, J. AU - Duncan, E. A. AU - Rawson, R. B. AU - Hua, X. AU - Brown, M. S. AU - Goldstein, J. L. PY - 1996 DA - 1996// TI - Sterol-regulated release of SREBP-2 from cell membranes requires two sequential cleavages, one within a transmembrane segment JO - Cell VL - 85 UR - https://doi.org/10.1016/S0092-8674(00)81304-5 DO - 10.1016/S0092-8674(00)81304-5 ID - Sakai1996 ER - TY - JOUR AU - Brown, M. S. AU - Goldstein, J. L. PY - 1997 DA - 1997// TI - The SREBP pathway: regulation of cholesterol metabolism by proteolysis of a membrane-bound transcription factor JO - Cell VL - 89 UR - https://doi.org/10.1016/S0092-8674(00)80213-5 DO - 10.1016/S0092-8674(00)80213-5 ID - Brown1997 ER - TY - JOUR AU - Rawson, R. B. AU - Cheng, D. AU - Brown, M. S. AU - Goldstein, J. L. PY - 1998 DA - 1998// TI - Isolation of cholesterol-requiring mutant Chinese hamster ovary cells with defects in cleavage of sterol regulatory element-binding proteins at site 1 JO - J Biol Chem VL - 273 UR - https://doi.org/10.1074/jbc.273.43.28261 DO - 10.1074/jbc.273.43.28261 ID - Rawson1998 ER - TY - JOUR AU - Ye, J. AU - Rawson, R. B. AU - Komuro, R. AU - Chen, X. AU - Davé, U. P. AU - Prywes, R. PY - 2000 DA - 2000// TI - ER stress induces cleavage of membrane-bound ATF6 by the same proteases that process SREBPs JO - Mol Cell VL - 6 UR - https://doi.org/10.1016/S1097-2765(00)00133-7 DO - 10.1016/S1097-2765(00)00133-7 ID - Ye2000 ER - TY - JOUR AU - Zhang, K. AU - Shen, X. AU - Wu, J. AU - Sakaki, K. AU - Saunders, T. AU - Rutkowski, D. T. PY - 2006 DA - 2006// TI - Endoplasmic reticulum stress activates cleavage of CREBH to induce a systemic inflammatory response JO - Cell VL - 124 UR - https://doi.org/10.1016/j.cell.2005.11.040 DO - 10.1016/j.cell.2005.11.040 ID - Zhang2006 ER - TY - JOUR AU - Alanay, Y. AU - Avaygan, H. AU - Camacho, N. AU - Utine, G. E. AU - Boduroglu, K. AU - Aktas, D. PY - 2010 DA - 2010// TI - Mutations in the gene encoding the RER protein FKBP65 cause autosomal-recessive osteogenesis imperfecta JO - Am J Hum Genet VL - 86 UR - https://doi.org/10.1016/j.ajhg.2010.02.022 DO - 10.1016/j.ajhg.2010.02.022 ID - Alanay2010 ER - TY - JOUR AU - Wang, X. AU - Sato, R. AU - Brown, M. S. AU - Hua, X. AU - Goldstein, J. L. PY - 1994 DA - 1994// TI - SREBP-1, a membrane-bound transcription factor released by sterol-regulated proteolysis JO - Cell VL - 77 UR - https://doi.org/10.1016/0092-8674(94)90234-8 DO - 10.1016/0092-8674(94)90234-8 ID - Wang1994 ER - TY - JOUR AU - Hua, X. AU - Sakai, J. AU - Ho, Y. K. AU - Goldstein, J. L. AU - Brown, M. S. PY - 1995 DA - 1995// TI - Hairpin orientation of sterol regulatory element-binding protein-2 in cell membranes as determined by protease protection JO - J Biol Chem VL - 270 UR - https://doi.org/10.1074/jbc.270.49.29422 DO - 10.1074/jbc.270.49.29422 ID - Hua1995 ER - TY - JOUR AU - Hua, X. AU - Sakai, J. AU - Brown, M. S. AU - Goldstein, J. L. PY - 1996 DA - 1996// TI - Regulated cleavage of sterol regulatory element binding proteins requires sequences on both sides of the endoplasmic reticulum membrane JO - J Biol Chem VL - 271 UR - https://doi.org/10.1074/jbc.271.17.10379 DO - 10.1074/jbc.271.17.10379 ID - Hua1996 ER - TY - JOUR AU - Hasan, M. T. AU - Chang, C. C. AU - Chang, T. Y. PY - 1994 DA - 1994// TI - Somatic cell genetic and biochemical characterization of cell lines resulting from human genomic DNA transfections of Chinese hamster ovary cell mutants defective in sterol-dependent activation of sterol synthesis and LDL receptor expression JO - Somat Cell Mol Genet VL - 20 UR - https://doi.org/10.1007/BF02254759 DO - 10.1007/BF02254759 ID - Hasan1994 ER - TY - JOUR AU - Zelenski, N. G. AU - Rawson, R. B. AU - Brown, M. S. AU - Goldstein, J. L. PY - 1999 DA - 1999// TI - Membrane topology of S2P, a protein required for intramembranous cleavage of sterol regulatory element-binding proteins JO - J Biol Chem VL - 274 UR - https://doi.org/10.1074/jbc.274.31.21973 DO - 10.1074/jbc.274.31.21973 ID - Zelenski1999 ER - TY - JOUR AU - Rudner, D. Z. AU - Fawcett, P. AU - Losick, R. PY - 1999 DA - 1999// TI - A family of membrane-embedded metalloproteases involved in regulated proteolysis of membrane-associated transcription factors JO - Proc Natl Acad Sci U S A VL - 96 UR - https://doi.org/10.1073/pnas.96.26.14765 DO - 10.1073/pnas.96.26.14765 ID - Rudner1999 ER - TY - JOUR AU - Kanehara, K. AU - Akiyama, Y. AU - Ito, K. PY - 2001 DA - 2001// TI - Characterization of the yaeL gene product and its S2P-protease motifs in Escherichia coli JO - Gene VL - 281 UR - https://doi.org/10.1016/S0378-1119(01)00823-X DO - 10.1016/S0378-1119(01)00823-X ID - Kanehara2001 ER - TY - JOUR AU - Yoshida, H. AU - Okada, T. AU - Haze, K. AU - Yanagi, H. AU - Yura, T. AU - Negishi, M. PY - 2000 DA - 2000// TI - ATF6 activated by proteolysis binds in the presence of NF-Y (CBF) directly to the cis-acting element responsible for the mammalian unfolded protein response JO - Mol Cell Biol VL - 20 UR - https://doi.org/10.1128/MCB.20.18.6755-6767.2000 DO - 10.1128/MCB.20.18.6755-6767.2000 ID - Yoshida2000 ER - TY - JOUR AU - Haze, K. AU - Yoshida, H. AU - Yanagi, H. AU - Yura, T. AU - Mori, K. PY - 1999 DA - 1999// TI - Mammalian transcription factor ATF6 is synthesized as a transmembrane protein and activated by proteolysis in response to endoplasmic reticulum stress JO - Mol Biol Cell VL - 10 UR - https://doi.org/10.1091/mbc.10.11.3787 DO - 10.1091/mbc.10.11.3787 ID - Haze1999 ER - TY - JOUR AU - Shen, J. AU - Chen, X. AU - Hendershot, L. AU - Prywes, R. PY - 2002 DA - 2002// TI - ER stress regulation of ATF6 localization by dissociation of BiP/GRP78 binding and unmasking of Golgi localization signals JO - Dev Cell VL - 3 UR - https://doi.org/10.1016/S1534-5807(02)00203-4 DO - 10.1016/S1534-5807(02)00203-4 ID - Shen2002 ER - TY - JOUR AU - Hillary, R. F. AU - FitzGerald, U. PY - 2018 DA - 2018// TI - A lifetime of stress: ATF6 in development and homeostasis JO - J Biomed Sci VL - 25 UR - https://doi.org/10.1186/s12929-018-0453-1 DO - 10.1186/s12929-018-0453-1 ID - Hillary2018 ER - TY - JOUR AU - Wang, X. AU - Karamariti, E. AU - Simpson, R. AU - Wang, W. AU - Xu, Q. PY - 2015 DA - 2015// TI - Dickkopf homolog 3 induces stem cell differentiation into smooth muscle lineage via ATF6 signalling JO - J Biol Chem VL - 290 UR - https://doi.org/10.1074/jbc.M115.641415 DO - 10.1074/jbc.M115.641415 ID - Wang2015 ER - TY - JOUR AU - Naranjo, J. R. AU - Zhang, H. AU - Villar, D. AU - González, P. AU - Dopazo, X. M. AU - Morón-Oset, J. PY - 2016 DA - 2016// TI - Activating transcription factor 6 derepression mediates neuroprotection in Huntington disease JO - J Clin Invest VL - 126 UR - https://doi.org/10.1172/JCI82670 DO - 10.1172/JCI82670 ID - Naranjo2016 ER - TY - JOUR AU - Jin, J. K. AU - Blackwood, E. A. AU - Azizi, K. AU - Thuerauf, D. J. AU - Fahem, A. G. AU - Hofmann, C. PY - 2017 DA - 2017// TI - ATF6 decreases myocardial Iischemia/reperfusion damage and links ER stress and oxidative stress signaling pathways in the heart JO - Circ Res VL - 120 UR - https://doi.org/10.1161/CIRCRESAHA.116.310266 DO - 10.1161/CIRCRESAHA.116.310266 ID - Jin2017 ER - TY - JOUR AU - Freiman, R. N. AU - Herr, W. PY - 1997 DA - 1997// TI - Viral mimicry: common mode of association with HCF by VP16 and the cellular protein LZIP JO - Genes Dev VL - 11 UR - https://doi.org/10.1101/gad.11.23.3122 DO - 10.1101/gad.11.23.3122 ID - Freiman1997 ER - TY - JOUR AU - Lu, R. AU - Yang, P. AU - O'Hare, P. AU - Misra, V. PY - 1997 DA - 1997// TI - Luman, a new member of the CREB/ATF family, binds to herpes simplex virus VP16-associated host cellular factor JO - Mol Cell Biol VL - 17 UR - https://doi.org/10.1128/MCB.17.9.5117 DO - 10.1128/MCB.17.9.5117 ID - Lu1997 ER - TY - JOUR AU - Eleveld-Trancikova, D. AU - Sanecka, A. AU - Hout-Kuijer, M. A. AU - Looman, M. W. AU - Hendriks, I. A. AU - Jansen, B. J. PY - 2010 DA - 2010// TI - DC-STAMP interacts with ER-resident transcription factor LUMAN which becomes activated during DC maturation JO - Mol Immunol VL - 47 UR - https://doi.org/10.1016/j.molimm.2010.04.019 DO - 10.1016/j.molimm.2010.04.019 ID - Eleveld-Trancikova2010 ER - TY - JOUR AU - Reiling, J. H. AU - Olive, A. J. AU - Sanyal, S. AU - Carette, J. E. AU - Brummelkamp, T. R. AU - Ploegh, H. L. PY - 2013 DA - 2013// TI - A CREB3-ARF4 signalling pathway mediates the response to Golgi stress and susceptibility to pathogens JO - Nat Cell Biol VL - 15 UR - https://doi.org/10.1038/ncb2865 DO - 10.1038/ncb2865 ID - Reiling2013 ER - TY - JOUR AU - Kang, H. AU - Kim, Y. S. AU - Ko, J. PY - 2009 DA - 2009// TI - A novel isoform of human LZIP negatively regulates the transactivation of the glucocorticoid receptor JO - Mol Endocrinol VL - 23 UR - https://doi.org/10.1210/me.2009-0009 DO - 10.1210/me.2009-0009 ID - Kang2009 ER - TY - JOUR AU - Jang, S. W. AU - Kim, Y. S. AU - Kim, Y. R. AU - Sung, H. J. AU - Ko, J. PY - 2007 DA - 2007// TI - Regulation of human LZIP expression by NF-kappaB and its involvement in monocyte cell migration induced by Lkn-1 JO - J Biol Chem VL - 282 UR - https://doi.org/10.1074/jbc.M607962200 DO - 10.1074/jbc.M607962200 ID - Jang2007 ER - TY - JOUR AU - Jang, S. W. AU - Kim, Y. S. AU - Lee, Y. H. AU - Ko, J. PY - 2007 DA - 2007// TI - Role of human LZIP in differential activation of the NF-kappaB pathway that is induced by CCR1-dependent chemokines JO - J Cell Physiol VL - 211 UR - https://doi.org/10.1002/jcp.20968 DO - 10.1002/jcp.20968 ID - Jang2007 ER - TY - JOUR AU - Howley, B. V. AU - Link, L. A. AU - Grelet, S. AU - El-Sabban, M. AU - Howe, P. H. PY - 2018 DA - 2018// TI - A CREB3-regulated ER–Golgi trafficking signature promotes metastatic progression in breast cancer JO - Oncogene VL - 37 UR - https://doi.org/10.1038/s41388-017-0023-0 DO - 10.1038/s41388-017-0023-0 ID - Howley2018 ER - TY - JOUR AU - Chan, C. P. AU - Kok, K. H. AU - Jin, D. Y. PY - 2011 DA - 2011// TI - CREB3 subfamily transcription factors are not created equal: recent insights from global analyses and animal models JO - Cell Biosci VL - 1 UR - https://doi.org/10.1186/2045-3701-1-6 DO - 10.1186/2045-3701-1-6 ID - Chan2011 ER - TY - JOUR AU - Taniguchi, M. AU - Yoshida, H. PY - 2017 DA - 2017// TI - TFE3, HSP47, and CREB3 pathways of the mammalian golgi stress response JO - Cell Struct Funct VL - 42 UR - https://doi.org/10.1247/csf.16023 DO - 10.1247/csf.16023 ID - Taniguchi2017 ER - TY - JOUR AU - Murakami, T. AU - Saito, A. AU - Hino, S. AU - Kondo, S. AU - Kanemoto, S. AU - Chihara, K. PY - 2009 DA - 2009// TI - Signalling mediated by the endoplasmic reticulum stress transducer OASIS is involved in bone formation JO - Nat Cell Biol VL - 11 UR - https://doi.org/10.1038/ncb1963 DO - 10.1038/ncb1963 ID - Murakami2009 ER - TY - JOUR AU - Chen, Q. AU - Lee, C. E. AU - Denard, B. AU - Ye, J. PY - 2014 DA - 2014// TI - Sustained induction of collagen synthesis by TGF-β requires regulated intramembrane proteolysis of CREB3L1 JO - PLoS ONE VL - 9 UR - https://doi.org/10.1371/journal.pone.0108528 DO - 10.1371/journal.pone.0108528 ID - Chen2014 ER - TY - JOUR AU - Symoens, S. AU - Malfait, F. AU - D’hondt, S. AU - Callewaert, B. AU - Dheedene, A. AU - Steyaert, W. PY - 2013 DA - 2013// TI - Deficiency for the ER-stress transducer OASIS causes severe recessive osteogenesis imperfecta in humans JO - Orphanet J Rare Dis. VL - 8 UR - https://doi.org/10.1186/1750-1172-8-154 DO - 10.1186/1750-1172-8-154 ID - Symoens2013 ER - TY - JOUR AU - Keller, R. B. AU - Tran, T. T. AU - Pyott, S. M. AU - Pepin, M. G. AU - Savarirayan, R. AU - McGillivray, G. PY - 2018 DA - 2018// TI - Monoallelic and biallelic CREB3L1 variant causes mild and severe osteogenesis imperfecta, respectively JO - Genet Med VL - 20 UR - https://doi.org/10.1038/gim.2017.115 DO - 10.1038/gim.2017.115 ID - Keller2018 ER - TY - JOUR AU - Guillemyn, B. AU - Kayserili, H. AU - Demuynck, L. AU - Sips, P. AU - Paepe, A. AU - Syx, D. PY - 2019 DA - 2019// TI - A homozygous pathogenic missense variant broadens the phenotypic and mutational spectrum of CREB3L1-related osteogenesis imperfecta JO - Hum Mol Genet VL - 28 UR - https://doi.org/10.1093/hmg/ddz017 DO - 10.1093/hmg/ddz017 ID - Guillemyn2019 ER - TY - JOUR AU - Saito, A. AU - Hino, S. -. i. AU - Murakami, T. AU - Kanemoto, S. AU - Kondo, S. AU - Saitoh, M. PY - 2009 DA - 2009// TI - Regulation of endoplasmic reticulum stress response by a BBF2H7-mediated Sec23a pathway is essential for chondrogenesis JO - Nat Cell Biol. VL - 11 UR - https://doi.org/10.1038/ncb1962 DO - 10.1038/ncb1962 ID - Saito2009 ER - TY - JOUR AU - Saito, A. AU - Hizukuri, Y. AU - Matsuo, E. -. i. AU - Chiba, S. AU - Mori, H. AU - Nishimura, O. PY - 2011 DA - 2011// TI - Post-liberation cleavage of signal peptides is catalyzed by the site-2 protease (S2P) in bacteria JO - Proc Natl Acad Sci U S A. VL - 108 UR - https://doi.org/10.1073/pnas.1108376108 DO - 10.1073/pnas.1108376108 ID - Saito2011 ER - TY - JOUR AU - Ishikura-Kinoshita, S. AU - Saeki, H. AU - Tsuji-Naito, K. PY - 2012 DA - 2012// TI - BBF2H7-mediated Sec23A pathway is required for endoplasmic reticulum-to-Golgi trafficking in dermal fibroblasts to promote collagen synthesis JO - J Invest Dermatol VL - 132 UR - https://doi.org/10.1038/jid.2012.103 DO - 10.1038/jid.2012.103 ID - Ishikura-Kinoshita2012 ER - TY - JOUR AU - Omori, Y. AU - Imai, J. AU - Watanabe, M. AU - Komatsu, T. AU - Suzuki, Y. AU - Kataoka, K. PY - 2001 DA - 2001// TI - CREB-H: a novel mammalian transcription factor belonging to the CREB/ATF family and functioning via the box-B element with a liver-specific expression JO - Nucleic Acids Res VL - 29 UR - https://doi.org/10.1093/nar/29.10.2154 DO - 10.1093/nar/29.10.2154 ID - Omori2001 ER - TY - JOUR AU - Luebke-Wheeler, J. AU - Zhang, K. AU - Battle, M. AU - Si-Tayeb, K. AU - Garrison, W. AU - Chhinder, S. PY - 2008 DA - 2008// TI - Hepatocyte nuclear factor 4alpha is implicated in endoplasmic reticulum stress-induced acute phase response by regulating expression of cyclic adenosine monophosphate responsive element binding protein H JO - Hepatology VL - 48 UR - https://doi.org/10.1002/hep.22439 DO - 10.1002/hep.22439 ID - Luebke-Wheeler2008 ER - TY - JOUR AU - Jin, Z. AU - Chen, Y. AU - Weng, X. AU - Huang, A. AU - Lin, S. AU - Li, H. PY - 2020 DA - 2020// TI - Cleavage of cyclic AMP-responsive element-binding protein H aggravates myocardial hypoxia reperfusion injury in a hepatocyte-myocardial cell co-culture system JO - J Int Med Res VL - 48 ID - Jin2020 ER - TY - JOUR AU - Jang, W. G. AU - Kim, E. J. AU - Koh, J. T. PY - 2011 DA - 2011// TI - Tunicamycin negatively regulates BMP2-induced osteoblast differentiation through CREBH expression in MC3T3E1 cells JO - BMB Rep VL - 44 UR - https://doi.org/10.5483/BMBRep.2011.44.11.735 DO - 10.5483/BMBRep.2011.44.11.735 ID - Jang2011 ER - TY - JOUR AU - Jang, W. G. AU - Jeong, B. C. AU - Kim, E. J. AU - Choi, H. AU - Oh, S. H. AU - Kim, D. K. PY - 2015 DA - 2015// TI - Cyclic AMP response element-binding protein H (CREBH) mediates the inhibitory actions of tumor necrosis factor α in osteoblast differentiation by stimulating Smad1 degradation JO - J Biol Chem VL - 290 UR - https://doi.org/10.1074/jbc.M114.587923 DO - 10.1074/jbc.M114.587923 ID - Jang2015 ER - TY - JOUR AU - Kim, J. H. AU - Kim, K. AU - Kim, I. AU - Seong, S. AU - Nam, K. -. I. AU - Kim, K. K. PY - 2018 DA - 2018// TI - Endoplasmic reticulum–bound transcription factor CREBH stimulates RANKL-induced osteoclastogenesis JO - J Immunol VL - 200 UR - https://doi.org/10.4049/jimmunol.1700582 DO - 10.4049/jimmunol.1700582 ID - Kim2018 ER - TY - JOUR AU - Adham, I. M. AU - Eck, T. J. AU - Mierau, K. AU - Müller, N. AU - Sallam, M. A. AU - Paprotta, I. PY - 2005 DA - 2005// TI - Reduction of spermatogenesis but not fertility in Creb3l4-deficient mice JO - Mol Cell Biol VL - 25 UR - https://doi.org/10.1128/MCB.25.17.7657-7664.2005 DO - 10.1128/MCB.25.17.7657-7664.2005 ID - Adham2005 ER - TY - JOUR AU - El-Alfy, M. AU - Azzi, L. AU - Lessard, J. AU - Lavergne, E. AU - Pelletier, M. AU - Labrie, C. PY - 2006 DA - 2006// TI - Stage-specific expression of the Atce1/Tisp40alpha isoform of CREB3L4 in mouse spermatids JO - J Androl VL - 27 UR - https://doi.org/10.2164/jandrol.106.000596 DO - 10.2164/jandrol.106.000596 ID - El-Alfy2006 ER - TY - JOUR AU - Nagamori, I. AU - Yomogida, K. AU - Ikawa, M. AU - Okabe, M. AU - Yabuta, N. AU - Nojima, H. PY - 2006 DA - 2006// TI - The testes-specific bZip type transcription factor Tisp40 plays a role in ER stress responses and chromatin packaging during spermiogenesis JO - Genes Cells VL - 11 UR - https://doi.org/10.1111/j.1365-2443.2006.01013.x DO - 10.1111/j.1365-2443.2006.01013.x ID - Nagamori2006 ER - TY - JOUR AU - Ben Aicha, S. AU - Lessard, J. AU - Pelletier, M. AU - Fournier, A. AU - Calvo, E. AU - Labrie, C. PY - 2007 DA - 2007// TI - Transcriptional profiling of genes that are regulated by the endoplasmic reticulum-bound transcription factor AIbZIP/CREB3L4 in prostate cells JO - Physiol Genomics VL - 31 UR - https://doi.org/10.1152/physiolgenomics.00097.2007 DO - 10.1152/physiolgenomics.00097.2007 ID - Ben Aicha2007 ER - TY - JOUR AU - Cui, X. AU - Cui, M. AU - Asada, R. AU - Kanemoto, S. AU - Saito, A. AU - Matsuhisa, K. PY - 2016 DA - 2016// TI - The androgen-induced protein AIbZIP facilitates proliferation of prostate cancer cells through downregulation of p21 expression JO - Sci Rep VL - 6 UR - https://doi.org/10.1038/srep37310 DO - 10.1038/srep37310 ID - Cui2016 ER - TY - JOUR AU - Kim, T. H. AU - Jo, S. H. AU - Choi, H. AU - Park, J. M. AU - Kim, M. Y. AU - Nojima, H. PY - 2014 DA - 2014// TI - Identification of Creb3l4 as an essential negative regulator of adipogenesis JO - Cell Death Dis VL - 5 UR - https://doi.org/10.1038/cddis.2014.490 DO - 10.1038/cddis.2014.490 ID - Kim2014 ER - TY - JOUR AU - Pu, Q. AU - Lu, L. AU - Dong, K. AU - Geng, W. -. w. AU - Lv, Y. -. r. AU - Gao, H. -. d. PY - 2020 DA - 2020// TI - The novel transcription factor CREB3L4 contributes to the progression of human breast carcinoma JO - J Mammary Gland Biol Neoplasia. VL - 25 UR - https://doi.org/10.1007/s10911-020-09443-6 DO - 10.1007/s10911-020-09443-6 ID - Pu2020 ER - TY - JOUR AU - Ye, J. AU - Davé, U. P. AU - Grishin, N. V. AU - Goldstein, J. L. AU - Brown, M. S. PY - 2000 DA - 2000// TI - Asparagine-proline sequence within membrane-spanning segment of SREBP triggers intramembrane cleavage by Site-2 protease JO - Proc Natl Acad Sci U S A VL - 97 UR - https://doi.org/10.1073/pnas.97.10.5123 DO - 10.1073/pnas.97.10.5123 ID - Ye2000 ER - TY - JOUR AU - Cheng, D. AU - Espenshade, P. J. AU - Slaughter, C. A. AU - Jaen, J. C. AU - Brown, M. S. AU - Goldstein, J. L. PY - 1999 DA - 1999// TI - Secreted site-1 protease cleaves peptides corresponding to luminal loop of sterol regulatory element-binding proteins JO - J Biol Chem VL - 274 UR - https://doi.org/10.1074/jbc.274.32.22805 DO - 10.1074/jbc.274.32.22805 ID - Cheng1999 ER - TY - JOUR AU - Kinch, L. N. AU - Ginalski, K. AU - Grishin, N. V. PY - 2006 DA - 2006// TI - Site-2 protease regulated intramembrane proteolysis: sequence homologs suggest an ancient signaling cascade JO - Protein Sci VL - 15 UR - https://doi.org/10.1110/ps.051766506 DO - 10.1110/ps.051766506 ID - Kinch2006 ER - TY - JOUR AU - Harris, B. Z. AU - Lim, W. A. PY - 2001 DA - 2001// TI - Mechanism and role of PDZ domains in signaling complex assembly JO - J Cell Sci VL - 114 ID - Harris2001 ER - TY - JOUR AU - Schneider, J. S. AU - Reddy, S. P. AU - Evans, H. W. AU - Glickman, M. S. PY - 2013 DA - 2013// TI - Site-2 protease substrate specificity and coupling in trans by a PDZ-substrate adapter protein JO - Proc Natl Acad Sci U S A. VL - 110 UR - https://doi.org/10.1073/pnas.1305934110 DO - 10.1073/pnas.1305934110 ID - Schneider2013 ER - TY - JOUR AU - Ha, Y. PY - 2009 DA - 2009// TI - Structure and mechanism of intramembrane protease JO - Sem Cell Dev Biol VL - 20 UR - https://doi.org/10.1016/j.semcdb.2008.11.006 DO - 10.1016/j.semcdb.2008.11.006 ID - Ha2009 ER - TY - JOUR AU - Feng, L. AU - Yan, H. AU - Wu, Z. AU - Yan, N. AU - Wang, Z. AU - Jeffrey, P. D. PY - 2007 DA - 2007// TI - Structure of a site-2 protease family intramembrane metalloprotease JO - Science VL - 318 UR - https://doi.org/10.1126/science.1150755 DO - 10.1126/science.1150755 ID - Feng2007 ER - TY - JOUR AU - Duncan, E. A. AU - Davé, U. P. AU - Sakai, J. AU - Goldstein, J. L. AU - Brown, M. S. PY - 1998 DA - 1998// TI - Second-site cleavage in sterol regulatory element-binding protein occurs at transmembrane junction as determined by cysteine panning JO - J Biol Chem VL - 273 UR - https://doi.org/10.1074/jbc.273.28.17801 DO - 10.1074/jbc.273.28.17801 ID - Duncan1998 ER - TY - JOUR AU - English, A. C. AU - Done, S. H. AU - Caves, L. S. D. AU - Groom, C. R. AU - Hubbard, R. E. PY - 1999 DA - 1999// TI - Locating interaction sites on proteins: the crystal structure of thermolysin soaked in 2% to 100% isopropanol JO - Protein Struct Funct Genet VL - 37 UR - https://doi.org/3.0.CO;2-G DO - 3.0.CO;2-G ID - English1999 ER - TY - JOUR AU - Düsterhöft, S. AU - Künzel, U. AU - Freeman, M. PY - 2017 DA - 2017// TI - Rhomboid proteases in human disease: mechanisms and future prospects JO - Biochim Biophys Acta Mol Cell Res VL - 1864 UR - https://doi.org/10.1016/j.bbamcr.2017.04.016 DO - 10.1016/j.bbamcr.2017.04.016 ID - Düsterhöft2017 ER - TY - JOUR AU - MacLeod, J. PY - 1909 DA - 1909// TI - Three cases of'ichthyosis follicularis' associated with baldness JO - Br J Dermatol VL - 21 ID - MacLeod1909 ER - TY - JOUR AU - Sato-Matsumura, K. C. AU - Matsumura, T. AU - Kumakiri, M. AU - Hosokawa, K. AU - Nakamura, H. AU - Kobayashi, H. PY - 2000 DA - 2000// TI - Ichthyosis follicularis with alopecia and photophobia in a mother and daughter JO - Br J Dermatol VL - 142 UR - https://doi.org/10.1046/j.1365-2133.2000.03260.x DO - 10.1046/j.1365-2133.2000.03260.x ID - Sato-Matsumura2000 ER - TY - JOUR AU - Cambiaghi, S. AU - Barbareschi, M. AU - Tadini, G. PY - 2002 DA - 2002// TI - Ichthyosis follicularis with atrichia and photophobia (IFAP) syndrome in two unrelated female patients JO - J Am Acad Dermatol VL - 46 UR - https://doi.org/10.1067/mjd.2002.112930 DO - 10.1067/mjd.2002.112930 ID - Cambiaghi2002 ER - TY - JOUR AU - Wang, H. AU - Humbatova, A. AU - Liu, Y. AU - Qin, W. AU - Lee, M. AU - Cesarato, N. PY - 2020 DA - 2020// TI - Mutations in SREBF1, encoding sterol regulatory element binding transcription factor 1, cause autosomal-dominant IFAP syndrome JO - Am J Hum Genet VL - 107 UR - https://doi.org/10.1016/j.ajhg.2020.05.006 DO - 10.1016/j.ajhg.2020.05.006 ID - Wang2020 ER - TY - JOUR AU - König, A. AU - Happle, R. PY - 1999 DA - 1999// TI - Linear lesions reflecting lyonization in women heterozygous for IFAP syndrome (ichthyosis follicularis with atrichia and photophobia) JO - Am J Med Genet VL - 85 UR - https://doi.org/3.0.CO;2-# DO - 3.0.CO;2-# ID - König1999 ER - TY - JOUR AU - Wang, H. J. AU - Tang, Z. L. AU - Lin, Z. M. AU - Dai, L. L. AU - Chen, Q. AU - Yang, Y. PY - 2014 DA - 2014// TI - Recurrent splice-site mutation in MBTPS2 underlying IFAP syndrome with Olmsted syndrome-like features in a Chinese patient JO - Clin Exp Dermatol VL - 39 UR - https://doi.org/10.1111/ced.12248 DO - 10.1111/ced.12248 ID - Wang2014 ER - TY - JOUR AU - Mégarbané, H. AU - Mégarbané, A. PY - 2011 DA - 2011// TI - Ichthyosis follicularis, alopecia, and photophobia (IFAP) syndrome JO - Orphanet J Rare Dis VL - 6 UR - https://doi.org/10.1186/1750-1172-6-29 DO - 10.1186/1750-1172-6-29 ID - Mégarbané2011 ER - TY - JOUR AU - Martino, F. AU - D'Eufemia, P. AU - Pergola, M. S. AU - Finocchiaro, R. AU - Celli, M. AU - Giampà, G. PY - 1992 DA - 1992// TI - Child with manifestations of dermotrichic syndrome and ichthyosis follicularis-alopecia-photophobia (IFAP) syndrome JO - Am J Med Genet VL - 44 UR - https://doi.org/10.1002/ajmg.1320440222 DO - 10.1002/ajmg.1320440222 ID - Martino1992 ER - TY - JOUR AU - Corujeira, S. AU - Águeda, S. AU - Monteiro, G. AU - Canelhas, A. AU - Sampaio, M. AU - Rocha, R. PY - 2013 DA - 2013// TI - Expanding the phenotype of IFAP/BRESECK syndrome: A new case with severe hypogammaglobulinemia JO - Eur J Med Genet VL - 56 UR - https://doi.org/10.1016/j.ejmg.2013.09.005 DO - 10.1016/j.ejmg.2013.09.005 ID - Corujeira2013 ER - TY - JOUR AU - Oeffner, F. AU - Fischer, G. AU - Happle, R. AU - König, A. AU - Betz, R. C. AU - Bornholdt, D. PY - 2009 DA - 2009// TI - IFAP syndrome is caused by deficiency in MBTPS2, an intramembrane zinc metalloprotease essential for cholesterol homeostasis and ER stress response JO - Am J Hum Genet VL - 84 UR - https://doi.org/10.1016/j.ajhg.2009.03.014 DO - 10.1016/j.ajhg.2009.03.014 ID - Oeffner2009 ER - TY - JOUR AU - Bornholdt, D. AU - Atkinson, T. P. AU - Bouadjar, B. AU - Catteau, B. AU - Cox, H. AU - Silva, D. PY - 2013 DA - 2013// TI - Genotype-phenotype correlations emerging from the identification of missense mutations in MBTPS2 JO - Hum Mutat VL - 34 ID - Bornholdt2013 ER - TY - JOUR AU - Jiang, Y. AU - Jin, H. AU - Zeng, Y. PY - 2019 DA - 2019// TI - A novel mutation in MBTPS2 causes ichthyosis follicularis, alopecia, and photophobia syndrome JO - Mol Genet Genomic Med VL - 7 ID - Jiang2019 ER - TY - JOUR AU - Tang, L. AU - Liang, J. AU - Wang, W. AU - Yu, L. AU - Yao, Z. PY - 2011 DA - 2011// TI - A novel mutation in MBTPS2 causes a broad phenotypic spectrum of ichthyosis follicularis, atrichia, and photophobia syndrome in a large Chinese family JO - J Am Acad Dermatol VL - 64 UR - https://doi.org/10.1016/j.jaad.2010.02.045 DO - 10.1016/j.jaad.2010.02.045 ID - Tang2011 ER - TY - JOUR AU - Pietrzak, A. AU - Kanitakis, J. AU - Staśkiewicz, G. AU - Sobczyńska-Tomaszewska, A. AU - Dybiec, E. AU - Szumiło, J. PY - 2012 DA - 2012// TI - IFAP syndrome with severe cutaneous, neurologic and skeletal manifestations due to a novel MBTPS2 mutation in a Polish patient JO - Eur J Dermatol VL - 22 UR - https://doi.org/10.1684/ejd.2012.1772 DO - 10.1684/ejd.2012.1772 ID - Pietrzak2012 ER - TY - JOUR AU - Izumi, K. AU - Wilkens, A. AU - Treat, J. R. AU - Pride, H. B. AU - Krantz, I. D. PY - 2013 DA - 2013// TI - Novel MBTPS2 missense mutation in the N-terminus transmembrane domain in a patient with ichthyosis follicularis, alopecia, and photophobia Syndrome JO - Pediatr Dermatol VL - 30 UR - https://doi.org/10.1111/pde.12115 DO - 10.1111/pde.12115 ID - Izumi2013 ER - TY - JOUR AU - Nakayama, J. AU - Iwasaki, N. AU - Shin, K. AU - Sato, H. AU - Kamo, M. AU - Ohyama, M. PY - 2011 DA - 2011// TI - A Japanese case of ichthyosis follicularis with atrichia and photophobia syndrome with an MBTPS2 mutation JO - J Hum Genet VL - 56 UR - https://doi.org/10.1038/jhg.2010.163 DO - 10.1038/jhg.2010.163 ID - Nakayama2011 ER - TY - JOUR AU - Naiki, M. AU - Mizuno, S. AU - Yamada, K. AU - Yamada, Y. AU - Kimura, R. AU - Oshiro, M. PY - 2012 DA - 2012// TI - MBTPS2 mutation causes BRESEK/BRESHECK syndrome JO - Am J Med Genet A. VL - 158a UR - https://doi.org/10.1002/ajmg.a.34373 DO - 10.1002/ajmg.a.34373 ID - Naiki2012 ER - TY - JOUR AU - Reish, O. AU - Gorlin, R. J. AU - Hordinsky, M. AU - Rest, E. B. AU - Burke, B. AU - Berry, S. A. PY - 1997 DA - 1997// TI - Brain anomalies, retardation of mentality and growth, ectodermal dysplasia, skeletal malformations, Hirschsprung disease, ear deformity and deafness, eye hypoplasia, cleft palate, cryptorchidism, and kidney dysplasia/hypoplasia (BRESEK/BRESHECK): new X-linked syndrome? JO - Am J Med Genet VL - 68 UR - https://doi.org/3.0.CO;2-K DO - 3.0.CO;2-K ID - Reish1997 ER - TY - JOUR AU - Aten, E. AU - Brasz, L. C. AU - Bornholdt, D. AU - Hooijkaas, I. B. AU - Porteous, M. E. AU - Sybert, V. P. PY - 2010 DA - 2010// TI - Keratosis Follicularis Spinulosa Decalvans is caused by mutations in MBTPS2 JO - Hum Mutat VL - 31 UR - https://doi.org/10.1002/humu.21335 DO - 10.1002/humu.21335 ID - Aten2010 ER - TY - JOUR PY - 1926 DA - 1926// TI - Keratosis follicularis spinulosa decalvans JO - Arch Dermatol Syph VL - 151 UR - https://doi.org/10.1007/BF01829637 DO - 10.1007/BF01829637 ID - ref88 ER - TY - JOUR AU - Porteous, M. E. AU - Strain, L. AU - Logie, L. J. AU - Herd, R. M. AU - Benton, E. C. PY - 1998 DA - 1998// TI - Keratosis follicularis spinulosa decalvans: confirmation of linkage to Xp221.3-p22.2 JO - J Med Genet. VL - 35 UR - https://doi.org/10.1136/jmg.35.4.336 DO - 10.1136/jmg.35.4.336 ID - Porteous1998 ER - TY - JOUR AU - Baden, H. P. AU - Byers, H. R. PY - 1994 DA - 1994// TI - Clinical findings, cutaneous pathology, and response to therapy in 21 patients with keratosis pilaris atrophicans JO - Arch Dermatol VL - 130 UR - https://doi.org/10.1001/archderm.1994.01690040073011 DO - 10.1001/archderm.1994.01690040073011 ID - Baden1994 ER - TY - JOUR AU - Castori, M. AU - Covaciu, C. AU - Paradisi, M. AU - Zambruno, G. PY - 2009 DA - 2009// TI - Clinical and genetic heterogeneity in keratosis follicularis spinulosa decalvans JO - Eur J Med Genet VL - 52 UR - https://doi.org/10.1016/j.ejmg.2008.09.005 DO - 10.1016/j.ejmg.2008.09.005 ID - Castori2009 ER - TY - JOUR AU - Fong, K. AU - Wedgeworth, E. K. AU - Lai-Cheong, J. E. AU - Tosi, I. AU - Mellerio, J. E. AU - Powell, A. M. PY - 2012 DA - 2012// TI - MBTPS2 mutation in a British pedigree with keratosis follicularis spinulosa decalvans JO - Clin Exp Dermatol VL - 37 UR - https://doi.org/10.1111/j.1365-2230.2011.04288.x DO - 10.1111/j.1365-2230.2011.04288.x ID - Fong2012 ER - TY - JOUR AU - Zhang, J. AU - Wang, Y. AU - Cheng, R. AU - Ni, C. AU - Liang, J. AU - Li, M. PY - 2016 DA - 2016// TI - Novel MBTPS2 missense mutation causes a keratosis follicularis spinulosa decalvans phenotype: mutation update and review of the literature JO - Clin Exp Dermatol VL - 41 UR - https://doi.org/10.1111/ced.12889 DO - 10.1111/ced.12889 ID - Zhang2016 ER - TY - JOUR AU - Chen, C. AU - Xu, C. AU - Li, H. AU - Jia, M. AU - Tang, S. PY - 2019 DA - 2019// TI - Novel mutation in MBTPS2 causes keratosis follicularis spinulosa decalvans in a large Chinese family JO - Int J Dermatol VL - 58 UR - https://doi.org/10.1111/ijd.14129 DO - 10.1111/ijd.14129 ID - Chen2019 ER - TY - JOUR AU - Olmsted, H. C. PY - 1927 DA - 1927// TI - Keratodermia palmaris et plantaris congenitalis: Report of a case showing associated lesions of unusual location JO - Am J Dis Child VL - 33 UR - https://doi.org/10.1001/archpedi.1927.04130170055008 DO - 10.1001/archpedi.1927.04130170055008 ID - Olmsted1927 ER - TY - JOUR AU - Frias-Iniesta, J. AU - Sanchez-Pedreño, P. AU - Martinez-Escribano, J. A. AU - Jimenez-Martinez, A. PY - 1997 DA - 1997// TI - Olmsted syndrome: report of a new case JO - Br J Dermatol VL - 136 UR - https://doi.org/10.1111/j.1365-2133.1997.tb03938.x DO - 10.1111/j.1365-2133.1997.tb03938.x ID - Frias-Iniesta1997 ER - TY - JOUR AU - Mevorah, B. AU - Goldberg, I. AU - Sprecher, E. AU - Bergman, R. AU - Metzker, A. AU - Luria, R. PY - 2005 DA - 2005// TI - Olmsted syndrome: mutilating palmoplantar keratoderma with periorificial keratotic plaques JO - J Am Acad Dermatol VL - 53 UR - https://doi.org/10.1016/j.jaad.2005.03.036 DO - 10.1016/j.jaad.2005.03.036 ID - Mevorah2005 ER - TY - JOUR AU - Elise Tonoli, R. AU - Villa, D. AU - Hübner Frainer, R. AU - Pizzarro Meneghello, L. AU - Ricachnevsky, N. AU - Quadros, M. PY - 2012 DA - 2012// TI - Olmsted syndrome JO - Case Rep Dermatol Med VL - 2012 ID - Elise Tonoli2012 ER - TY - JOUR AU - Haghighi, A. AU - Scott, C. A. AU - Poon, D. S. AU - Yaghoobi, R. AU - Saleh-Gohari, N. AU - Plagnol, V. PY - 2013 DA - 2013// TI - A missense mutation in the MBTPS2 gene underlies the X-linked form of Olmsted syndrome JO - J Invest Dermatol VL - 133 UR - https://doi.org/10.1038/jid.2012.289 DO - 10.1038/jid.2012.289 ID - Haghighi2013 ER - TY - JOUR AU - Duchatelet, S. AU - Guibbal, L. AU - Veer, S. AU - Fraitag, S. AU - Nitschké, P. AU - Zarhrate, M. PY - 2014 DA - 2014// TI - Olmsted syndrome with erythromelalgia caused by recessive transient receptor potential vanilloid 3 mutations JO - Br J Dermatol VL - 171 UR - https://doi.org/10.1111/bjd.12951 DO - 10.1111/bjd.12951 ID - Duchatelet2014 ER - TY - JOUR AU - Eytan, O. AU - Fuchs-Telem, D. AU - Mevorach, B. AU - Indelman, M. AU - Bergman, R. AU - Sarig, O. PY - 2014 DA - 2014// TI - Olmsted syndrome caused by a homozygous recessive mutation in TRPV3 JO - J Invest Dermatol VL - 134 UR - https://doi.org/10.1038/jid.2014.37 DO - 10.1038/jid.2014.37 ID - Eytan2014 ER - TY - JOUR AU - Cao, X. AU - Wang, H. AU - Li, Y. AU - Lee, M. AU - Jiang, L. AU - Zhou, Y. PY - 2016 DA - 2016// TI - Semidominant inheritance in olmsted syndrome JO - J Invest Dermatol VL - 136 UR - https://doi.org/10.1016/j.jid.2016.04.024 DO - 10.1016/j.jid.2016.04.024 ID - Cao2016 ER - TY - JOUR AU - Lin, Z. AU - Chen, Q. AU - Lee, M. AU - Cao, X. AU - Zhang, J. AU - Ma, D. PY - 2012 DA - 2012// TI - Exome sequencing reveals mutations in TRPV3 as a cause of Olmsted syndrome JO - Am J Hum Genet VL - 90 UR - https://doi.org/10.1016/j.ajhg.2012.02.006 DO - 10.1016/j.ajhg.2012.02.006 ID - Lin2012 ER - TY - JOUR AU - Nemer, G. AU - Safi, R. AU - Kreidieh, F. AU - Usta, J. AU - Bergqvist, C. AU - Ballout, F. PY - 2017 DA - 2017// TI - Understanding the phenotypic similarities between IFAP and Olmsted syndrome from a molecular perspective: the interaction of MBTPS2 and TRPV3 JO - Arch Dermatol Res VL - 309 UR - https://doi.org/10.1007/s00403-017-1762-z DO - 10.1007/s00403-017-1762-z ID - Nemer2017 ER - TY - JOUR AU - Yaghoobi, R. AU - Omidian, M. AU - Sina, N. AU - Abtahian, S. A. AU - Panahi-Bazaz, M. R. PY - 2007 DA - 2007// TI - Olmsted syndrome in an Iranian family: report of two new cases JO - Arch Iran Med VL - 10 ID - Yaghoobi2007 ER - TY - JOUR AU - Ni, C. AU - Yan, M. AU - Zhang, J. AU - Cheng, R. AU - Liang, J. AU - Deng, D. PY - 2016 DA - 2016// TI - A novel mutation in TRPV3 gene causes atypical familial Olmsted syndrome JO - Sci Rep VL - 6 UR - https://doi.org/10.1038/srep21815 DO - 10.1038/srep21815 ID - Ni2016 ER - TY - JOUR AU - Byers, P. H. AU - Steiner, R. D. PY - 1992 DA - 1992// TI - Osteogenesis imperfecta JO - Annu Rev Med VL - 43 UR - https://doi.org/10.1146/annurev.me.43.020192.001413 DO - 10.1146/annurev.me.43.020192.001413 ID - Byers1992 ER - TY - JOUR AU - Marini, J. C. AU - Forlino, A. AU - Bächinger, H. P. AU - Bishop, N. J. AU - Byers, P. H. AU - Paepe, A. PY - 2017 DA - 2017// TI - Osteogenesis imperfecta JO - Nat Rev Dis Primers VL - 3 UR - https://doi.org/10.1038/nrdp.2017.52 DO - 10.1038/nrdp.2017.52 ID - Marini2017 ER - TY - JOUR AU - Intarak, N. AU - Budsamongkol, T. AU - Theerapanon, T. AU - Chanamuangkon, T. AU - Srijunbarl, A. AU - Boonprakong, L. PY - 2020 DA - 2020// TI - Tooth ultrastructure of a novel COL1A2 mutation expanding its genotypic and phenotypic spectra JO - Oral Dis. UR - https://doi.org/10.1111/odi.13657 DO - 10.1111/odi.13657 ID - Intarak2020 ER - TY - JOUR AU - Tongkobpetch, S. AU - Limpaphayom, N. AU - Sangsin, A. AU - Porntaveetus, T. AU - Suphapeetiporn, K. AU - Shotelersuk, V. PY - 2017 DA - 2017// TI - A novel de novo COL1A1 mutation in a Thai boy with osteogenesis imperfecta born to consanguineous parents JO - Genet Mol Biol VL - 40 UR - https://doi.org/10.1590/1678-4685-gmb-2016-0033 DO - 10.1590/1678-4685-gmb-2016-0033 ID - Tongkobpetch2017 ER - TY - JOUR AU - Udomchaiprasertkul, W. AU - Kuptanon, C. AU - Porntaveetus, T. AU - Shotelersuk, V. PY - 2020 DA - 2020// TI - A family with homozygous and heterozygous p.Gly337Ser mutations in COL1A2 JO - Eur J Med Genet. VL - 63 UR - https://doi.org/10.1016/j.ejmg.2020.103896 DO - 10.1016/j.ejmg.2020.103896 ID - Udomchaiprasertkul2020 ER - TY - JOUR AU - Budsamongkol, T. AU - Intarak, N. AU - Theerapanon, T. AU - Yodsanga, S. AU - Porntaveetus, T. AU - Shotelersuk, V. PY - 2019 DA - 2019// TI - A novel mutation in COL1A2 leads to osteogenesis imperfecta/Ehlers-Danlos overlap syndrome with brachydactyly JO - Genes Dis VL - 6 UR - https://doi.org/10.1016/j.gendis.2019.03.001 DO - 10.1016/j.gendis.2019.03.001 ID - Budsamongkol2019 ER - TY - JOUR AU - Dijk, F. S. AU - Nesbitt, I. M. AU - Nikkels, P. G. AU - Dalton, A. AU - Bongers, E. M. AU - Kamp, J. M. PY - 2009 DA - 2009// TI - CRTAP mutations in lethal and severe osteogenesis imperfecta: the importance of combining biochemical and molecular genetic analysis JO - Eur J Hum Genet VL - 17 UR - https://doi.org/10.1038/ejhg.2009.75 DO - 10.1038/ejhg.2009.75 ID - Dijk2009 ER - TY - JOUR AU - Dijk, F. S. AU - Nesbitt, I. M. AU - Zwikstra, E. H. V. AU - Nikkels, P. G. AU - Piersma, S. R. AU - Fratantoni, S. A. PY - 2009 DA - 2009// TI - PPIB mutations cause severe osteogenesis imperfecta JO - Am J Hum Genet VL - 85 UR - https://doi.org/10.1016/j.ajhg.2009.09.001 DO - 10.1016/j.ajhg.2009.09.001 ID - Dijk2009 ER - TY - JOUR AU - Baldridge, D. AU - Schwarze, U. AU - Morello, R. AU - Lennington, J. AU - Bertin, T. K. AU - Pace, J. M. PY - 2008 DA - 2008// TI - CRTAP and LEPRE1 mutations in recessive osteogenesis imperfecta JO - Hum Mutat VL - 29 UR - https://doi.org/10.1002/humu.20799 DO - 10.1002/humu.20799 ID - Baldridge2008 ER - TY - JOUR AU - Christiansen, H. E. AU - Schwarze, U. AU - Pyott, S. M. AU - AlSwaid, A. AU - Al Balwi, M. AU - Alrasheed, S. PY - 2010 DA - 2010// TI - Homozygosity for a missense mutation in SERPINH1, which encodes the collagen chaperone protein HSP47, results in severe recessive osteogenesis imperfecta JO - Am J Hum Genet VL - 86 UR - https://doi.org/10.1016/j.ajhg.2010.01.034 DO - 10.1016/j.ajhg.2010.01.034 ID - Christiansen2010 ER - TY - JOUR AU - Moosa, S. AU - Chung, B. H. AU - Tung, J. Y. AU - Altmüller, J. AU - Thiele, H. AU - Nürnberg, P. PY - 2016 DA - 2016// TI - Mutations in SEC24D cause autosomal recessive osteogenesis imperfecta JO - Clin Genet VL - 89 UR - https://doi.org/10.1111/cge.12678 DO - 10.1111/cge.12678 ID - Moosa2016 ER - TY - JOUR AU - Syx, D. AU - Guillemyn, B. AU - Symoens, S. AU - Sousa, A. B. AU - Medeira, A. AU - Whiteford, M. PY - 2015 DA - 2015// TI - Defective proteolytic processing of fibrillar procollagens and prodecorin due to biallelic BMP1 mutations results in a severe, progressive form of osteogenesis imperfecta JO - J Bone Miner Res VL - 30 UR - https://doi.org/10.1002/jbmr.2473 DO - 10.1002/jbmr.2473 ID - Syx2015 ER - TY - JOUR AU - Sangsin, A. AU - Kuptanon, C. AU - Srichomthong, C. AU - Pongpanich, M. AU - Suphapeetiporn, K. AU - Shotelersuk, V. PY - 2017 DA - 2017// TI - Two novel compound heterozygous BMP1 mutations in a patient with osteogenesis imperfecta: a case report JO - BMC Med Genet VL - 18 UR - https://doi.org/10.1186/s12881-017-0384-9 DO - 10.1186/s12881-017-0384-9 ID - Sangsin2017 ER - TY - JOUR AU - Kuptanon, C. AU - Srichomthong, C. AU - Sangsin, A. AU - Kovitvanitcha, D. AU - Suphapeetiporn, K. AU - Shotelersuk, V. PY - 2018 DA - 2018// TI - The most 5' truncating homozygous mutation of WNT1 in siblings with osteogenesis imperfecta with a variable degree of brain anomalies: a case report JO - BMC Med Genet VL - 19 UR - https://doi.org/10.1186/s12881-018-0639-0 DO - 10.1186/s12881-018-0639-0 ID - Kuptanon2018 ER - TY - JOUR AU - Porntaveetus, T. AU - Theerapanon, T. AU - Srichomthong, C. AU - Shotelersuk, V. PY - 2018 DA - 2018// TI - Cole-Carpenter syndrome in a patient from Thailand JO - Am J Med Genet A VL - 176 UR - https://doi.org/10.1002/ajmg.a.40358 DO - 10.1002/ajmg.a.40358 ID - Porntaveetus2018 ER - TY - JOUR AU - Tongkobpetch, S. AU - Rungsiwiwut, R. AU - Pruksananonda, K. AU - Suphapeetiporn, K. AU - Shotelersuk, V. PY - 2019 DA - 2019// TI - Generation of two human iPSC lines (MDCUi001-A and MDCUi001-B) from dermal fibroblasts of a Thai patient with X-linked osteogenesis imperfecta using integration-free Sendai virus JO - Stem Cell Res VL - 39 UR - https://doi.org/10.1016/j.scr.2019.101493 DO - 10.1016/j.scr.2019.101493 ID - Tongkobpetch2019 ER - TY - JOUR AU - Guan, M. AU - Fousek, K. AU - Jiang, C. AU - Guo, S. AU - Synold, T. AU - Xi, B. PY - 2011 DA - 2011// TI - Nelfinavir induces liposarcoma apoptosis through inhibition of regulated intramembrane proteolysis of SREBP-1 and ATF6 JO - Clin Cancer Res VL - 17 UR - https://doi.org/10.1158/1078-0432.CCR-10-3216 DO - 10.1158/1078-0432.CCR-10-3216 ID - Guan2011 ER - TY - JOUR AU - Guan, M. AU - Fousek, K. AU - Chow, W. A. PY - 2012 DA - 2012// TI - Nelfinavir inhibits regulated intramembrane proteolysis of sterol regulatory element binding protein-1 and activating transcription factor 6 in castration-resistant prostate cancer JO - Febs j VL - 279 UR - https://doi.org/10.1111/j.1742-4658.2012.08619.x DO - 10.1111/j.1742-4658.2012.08619.x ID - Guan2012 ER - TY - JOUR AU - Guan, M. AU - Su, L. AU - Yuan, Y. C. AU - Li, H. AU - Chow, W. A. PY - 2015 DA - 2015// TI - Nelfinavir and nelfinavir analogs block site-2 protease cleavage to inhibit castration-resistant prostate cancer JO - Sci Rep VL - 5 UR - https://doi.org/10.1038/srep09698 DO - 10.1038/srep09698 ID - Guan2015 ER - TY - JOUR AU - Madeira, F. AU - Park, Y. M. AU - Lee, J. AU - Buso, N. AU - Gur, T. AU - Madhusoodanan, N. PY - 2019 DA - 2019// TI - The EMBL-EBI search and sequence analysis tools APIs in 2019 JO - Nucleic Acids Res VL - 47 UR - https://doi.org/10.1093/nar/gkz268 DO - 10.1093/nar/gkz268 ID - Madeira2019 ER -