{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,2]],"date-time":"2026-09-02T05:23:11Z","timestamp":1788326591533,"version":"build-2803163510"},"reference-count":39,"publisher":"Ovid Technologies (Wolters Kluwer Health)","issue":"9","funder":[{"DOI":"10.13039\/100018736","name":"Kaken Pharmaceutical","doi-asserted-by":"crossref","award":["21K16157"],"award-info":[{"award-number":["21K16157"]}],"id":[{"id":"10.13039\/100018736","id-type":"DOI","asserted-by":"crossref"}]},{"DOI":"10.13039\/100018736","name":"Kaken Pharmaceutical","doi-asserted-by":"crossref","award":["23K07691"],"award-info":[{"award-number":["23K07691"]}],"id":[{"id":"10.13039\/100018736","id-type":"DOI","asserted-by":"crossref"}]},{"DOI":"10.13039\/100018736","name":"Kaken Pharmaceutical","doi-asserted-by":"crossref","award":["25K19479"],"award-info":[{"award-number":["25K19479"]}],"id":[{"id":"10.13039\/100018736","id-type":"DOI","asserted-by":"crossref"}]},{"name":"Sophie's Neighborhood","award":["grants from Sophie's Neighborhood"],"award-info":[{"award-number":["grants from Sophie's Neighborhood"]}]},{"name":"Sophie's Neighborhood","award":["grants from Sophie's Neighborhood"],"award-info":[{"award-number":["grants from Sophie's Neighborhood"]}]},{"DOI":"10.13039\/501100020959","name":"JST-Mirai Program","doi-asserted-by":"crossref","award":["JPMJPF2017"],"award-info":[{"award-number":["JPMJPF2017"]}],"id":[{"id":"10.13039\/501100020959","id-type":"DOI","asserted-by":"crossref"}]},{"name":"Bayer Academic Support","award":["DGU01202J"],"award-info":[{"award-number":["DGU01202J"]}]}],"content-domain":{"domain":["lww.com","ovid.com"],"crossmark-restriction":true},"short-container-title":["JASN"],"published-print":{"date-parts":[[2026,9]]},"abstract":"<jats:sec>\n                    <jats:title>Key Points<\/jats:title>\n                    <jats:p>\n                      <jats:list list-type=\"bullet\">\n                        <jats:list-item>\n                          <jats:p>Multicentric carpotarsal osteolysis, a rare disorder, causes progressive osteolysis and kidney failure because of v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog B (MAFB) gene mutations.<\/jats:p>\n                        <\/jats:list-item>\n                        <jats:list-item>\n                          <jats:p>A genome-edited mouse model carrying the multicentric carpotarsal osteolysis mutation was used to obtain a deeper understanding of this rare disease.<\/jats:p>\n                        <\/jats:list-item>\n                        <jats:list-item>\n                          <jats:p>Targeting MAFB\/IGF-1\/PI3K\/AKT signaling may provide new treatments for multicentric carpotarsal osteolysis\u2013related nephropathy.<\/jats:p>\n                        <\/jats:list-item>\n                      <\/jats:list>\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Background<\/jats:title>\n                    <jats:p>\n                      Multicentric carpotarsal osteolysis (MCTO) is a rare condition characterized by progressive osteolysis and often kidney failure. It is caused by autosomal dominant mutations in the transcription factor v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog B (\n                      <jats:italic toggle=\"yes\">MAFB<\/jats:italic>\n                      ).\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>\n                      Given the absence of efficacious therapeutic interventions for MCTO and the obscurity of its pathophysiologic mechanisms, we used mice with the MCTO mutation (\n                      <jats:italic toggle=\"yes\">Mafb<\/jats:italic>\n                      <jats:sup>MCTO\/MCTO<\/jats:sup>\n                      mice) to explore the role of MAFB.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>\n                      <jats:italic toggle=\"yes\">Mafb<\/jats:italic>\n                      <jats:sup>MCTO\/MCTO<\/jats:sup>\n                      mice displayed FSGS, mirroring the manifestations seen in patients with MCTO. These mice showed that the MCTO mutation leads to the accumulation of MAFB protein. Heterozygous\n                      <jats:italic toggle=\"yes\">Mafb<\/jats:italic>\n                      <jats:sup>MCTO\/\u2212<\/jats:sup>\n                      mice, generated by crossbreeding to reduce MAFB levels, neither exhibited albuminuria nor showed any histologic abnormalities in the kidney, suggesting that excess MAFB was detrimental. We subsequently conducted RNA-seq on the glomeruli from\n                      <jats:italic toggle=\"yes\">Mafb<\/jats:italic>\n                      <jats:sup>MCTO\/MCTO<\/jats:sup>\n                      mice and detected pronounced upregulation of the phosphoinositide 3-kinase (PI3K)\/AKT signaling pathway through IGF-1. Given that receptor tyrosine kinases activate PI3K\/AKT, we treated\n                      <jats:italic toggle=\"yes\">Mafb<\/jats:italic>\n                      <jats:sup>MCTO\/MCTO<\/jats:sup>\n                      mice with the inhibitor imatinib. This led to a significant decline in urinary albumin levels compared with the control group.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusions<\/jats:title>\n                    <jats:p>Our findings demonstrate that the MCTO mutation resulted in MAFB protein accumulation and led to the development of FSGS in mice.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1681\/asn.0000001060","type":"journal-article","created":{"date-parts":[[2026,3,17]],"date-time":"2026-03-17T16:06:17Z","timestamp":1773763577000},"page":"1910-1922","update-policy":"https:\/\/doi.org\/10.1097\/lww.0000000000001000","source":"Crossref","is-referenced-by-count":2,"title":["Inhibition of MAFB and PI3K\/AKT Signaling for Hereditary FSGS with Multicentric Carpotarsal Osteolysis"],"prefix":"10.1681","volume":"37","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-8192-4891","authenticated-orcid":false,"given":"Toshiaki","family":"Usui","sequence":"first","affiliation":[{"name":"Department of Nephrology, Institute of Medicine, University of Tsukuba, Tsukuba, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shun","family":"Ishibashi","sequence":"additional","affiliation":[{"name":"Department of Nephrology, Institute of Medicine, University of Tsukuba, Tsukuba, Japan"},{"name":"Doctoral Program in Medical Sciences, Graduate School of Comprehensive Human Sciences, University of Tsukuba, Tsukuba, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7924-6876","authenticated-orcid":false,"given":"Ryojiro","family":"Tanaka","sequence":"additional","affiliation":[{"name":"Department of Nephrology, Hyogo Prefectural Kobe Children's Hospital, Kobe, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1967-8191","authenticated-orcid":false,"given":"Naoki","family":"Morito","sequence":"additional","affiliation":[{"name":"Department of Nephrology, Institute of Medicine, University of Tsukuba, Tsukuba, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4737-1007","authenticated-orcid":false,"given":"Michito","family":"Hamada","sequence":"additional","affiliation":[{"name":"Department of Anatomy and Embryology, Institute of Medicine, University of Tsukuba, Tsukuba, Japan"},{"name":"Center for Medical Sciences, Ibaraki Prefectural University of Health Sciences, Ami, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0006-8208-4464","authenticated-orcid":false,"given":"Natalia","family":"Gogoleva","sequence":"additional","affiliation":[{"name":"Department of Anatomy and Embryology, Institute of Medicine, University of Tsukuba, Tsukuba, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Baoshuo","family":"Ning","sequence":"additional","affiliation":[{"name":"Department of Anatomy and Embryology, Institute of Medicine, University of Tsukuba, Tsukuba, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5550-7309","authenticated-orcid":false,"given":"Eugenia","family":"Kumaga","sequence":"additional","affiliation":[{"name":"Department of Anatomy and Embryology, Institute of Medicine, University of Tsukuba, Tsukuba, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mayuko","family":"Oki","sequence":"additional","affiliation":[{"name":"Department of Anatomy and Embryology, Institute of Medicine, University of Tsukuba, Tsukuba, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yuki","family":"Tsunakawa","sequence":"additional","affiliation":[{"name":"Department of Anatomy and Embryology, Institute of Medicine, University of Tsukuba, Tsukuba, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yuka","family":"Murakami","sequence":"additional","affiliation":[{"name":"Department of Anatomy and Embryology, Institute of Medicine, University of Tsukuba, Tsukuba, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shunya","family":"Sadaki","sequence":"additional","affiliation":[{"name":"Department of Anatomy and Embryology, Institute of Medicine, University of Tsukuba, Tsukuba, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0963-9949","authenticated-orcid":false,"given":"Sayaka","family":"Fuseya","sequence":"additional","affiliation":[{"name":"Department of Anatomy and Embryology, Institute of Medicine, University of Tsukuba, Tsukuba, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0008-3485-4027","authenticated-orcid":false,"given":"Maho","family":"Kanai","sequence":"additional","affiliation":[{"name":"Department of Anatomy and Embryology, Institute of Medicine, University of Tsukuba, Tsukuba, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2544-4639","authenticated-orcid":false,"given":"Teppei","family":"Nishino","sequence":"additional","affiliation":[{"name":"Department of Anatomy and Embryology, Institute of Medicine, University of Tsukuba, Tsukuba, Japan"},{"name":"Department of Endocrinology and Metabolism, Institute of Medicine, University of Tsukuba, Tsukuba, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yuri","family":"Inoue","sequence":"additional","affiliation":[{"name":"Department of Anatomy and Embryology, Institute of Medicine, University of Tsukuba, Tsukuba, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9610-1583","authenticated-orcid":false,"given":"Yoshinori","family":"Sato","sequence":"additional","affiliation":[{"name":"Division of Nephrology, Department of Medicine, Showa Medical University Fujigaoka Hospital, Yokohama, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0009-0898-6445","authenticated-orcid":false,"given":"Kei","family":"Gochi","sequence":"additional","affiliation":[{"name":"Department of Cellular Physiological Chemistry, Institute of Science Tokyo, Tokyo, Japan"},{"name":"Department of Rehabilitation for the Movement Functions, Research Institute, National Rehabilitation Center for Persons with Disabilities, Tokorozawa, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Masahiro","family":"Shinohara","sequence":"additional","affiliation":[{"name":"Department of Rehabilitation for the Movement Functions, Research Institute, National Rehabilitation Center for Persons with Disabilities, Tokorozawa, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4674-6882","authenticated-orcid":false,"given":"Akihiro","family":"Kuno","sequence":"additional","affiliation":[{"name":"Department of Anatomy and Embryology, Institute of Medicine, University of Tsukuba, Tsukuba, Japan"},{"name":"Laboratory Animal Resource Center (LARC), Trans-Border Medical Research Center, University of Tsukuba, Tsukuba, Japan"},{"name":"Tsukuba Institute for Advanced Research (TIAR), University of Tsukuba, Tsukuba, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hyojung","family":"Jeon","sequence":"additional","affiliation":[{"name":"Department of Anatomy and Embryology, Institute of Medicine, University of Tsukuba, Tsukuba, Japan"},{"name":"Division of Cell Regulation, Center for Experimental Medicine and Systems Biology, The Institute of Medical Science, The University of Tokyo, Tokyo, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0286-0704","authenticated-orcid":false,"given":"Eiji","family":"Warabi","sequence":"additional","affiliation":[{"name":"Department of Anatomy and Embryology, Institute of Medicine, University of Tsukuba, Tsukuba, Japan"},{"name":"Laboratory Animal Resource Center (LARC), Trans-Border Medical Research Center, University of Tsukuba, Tsukuba, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5477-7235","authenticated-orcid":false,"given":"Takashi","family":"Kudo","sequence":"additional","affiliation":[{"name":"Department of Anatomy and Embryology, Institute of Medicine, University of Tsukuba, Tsukuba, Japan"},{"name":"Laboratory Animal Resource Center (LARC), Trans-Border Medical Research Center, University of Tsukuba, Tsukuba, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Seiya","family":"Mizuno","sequence":"additional","affiliation":[{"name":"Laboratory Animal Resource Center (LARC), Trans-Border Medical Research Center, University of Tsukuba, Tsukuba, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0276-8000","authenticated-orcid":false,"given":"Masafumi","family":"Muratani","sequence":"additional","affiliation":[{"name":"Department of Genome Biology, Institute of Medicine, University of Tsukuba, Tsukuba, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0036-7809","authenticated-orcid":false,"given":"Michael A.","family":"Levine","sequence":"additional","affiliation":[{"name":"Division of Endocrinology and Diabetes, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania"},{"name":"Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7407-0410","authenticated-orcid":false,"given":"Kunihiro","family":"Yamagata","sequence":"additional","affiliation":[{"name":"Department of Nephrology, Institute of Medicine, University of Tsukuba, Tsukuba, Japan"},{"name":"Division of Preventive and Sports Nephrology, Graduate School of Comprehensive Human Sciences, University of Tsukuba, Tsukuba, Japan"},{"name":"R&D Center for Smart Wellness City Policies, University of Tsukuba, Tsukuba, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8540-7760","authenticated-orcid":false,"given":"Satoru","family":"Takahashi","sequence":"additional","affiliation":[{"name":"Department of Anatomy and Embryology, Institute of Medicine, University of Tsukuba, Tsukuba, Japan"},{"name":"Laboratory Animal Resource Center (LARC), Trans-Border Medical Research Center, University of Tsukuba, Tsukuba, Japan"},{"name":"International Institute for Integrative Sleep Medicine (WPI-IIIS), University of Tsukuba, Tsukuba, Japan"},{"name":"Life Science Center of Tsukuba Advanced Research Alliance (TARA), University of Tsukuba, Tsukuba, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"276","published-online":{"date-parts":[[2026,3,17]]},"reference":[{"issue":"25","key":"B1-20260901","doi-asserted-by":"crossref","first-page":"2398","DOI":"10.1056\/NEJMra1106556","article-title":"Focal segmental glomerulosclerosis","volume":"365","author":"D'Agati","year":"2011","journal-title":"N Engl J Med."},{"issue":"2","key":"B2-20260901","doi-asserted-by":"crossref","first-page":"76","DOI":"10.1038\/nrneph.2014.216","article-title":"Causes and pathogenesis of focal segmental glomerulosclerosis","volume":"11","author":"Fogo","year":"2015","journal-title":"Nat Rev Nephrol."},{"issue":"11","key":"B3-20260901","first-page":"7581","article-title":"MafB, a new Maf family transcription activator that can associate with Maf and Fos but not with Jun","volume":"14","author":"Kataoka","year":"1994","journal-title":"Mol Cell Biol."},{"issue":"1","key":"B4-20260901","first-page":"700","article-title":"Maf nuclear oncoprotein recognizes sequences related to an AP-1 site and forms heterodimers with both Fos and Jun","volume":"14","author":"Kataoka","year":"1994","journal-title":"Mol Cell Biol."},{"issue":"1","key":"B5-20260901","doi-asserted-by":"crossref","first-page":"11","DOI":"10.2169\/internalmedicine.9336-22","article-title":"Podocyte-specific transcription factors: could MafB become a therapeutic target for kidney disease?","volume":"62","author":"Morito","year":"2023","journal-title":"Intern Med."},{"issue":"15","key":"B6-20260901","doi-asserted-by":"crossref","first-page":"5715","DOI":"10.1128\/MCB.00001-06","article-title":"MafB is essential for renal development and F4\/80 expression in macrophages","volume":"26","author":"Moriguchi","year":"2006","journal-title":"Mol Cell Biol."},{"issue":"2","key":"B7-20260901","doi-asserted-by":"crossref","first-page":"391","DOI":"10.1016\/j.kint.2020.02.038","article-title":"Transcription factor MafB in podocytes protects against the development of focal segmental glomerulosclerosis","volume":"98","author":"Usui","year":"2020","journal-title":"Kidney Int."},{"issue":"6","key":"B8-20260901","doi-asserted-by":"crossref","first-page":"1220","DOI":"10.1016\/j.ajhg.2016.03.023","article-title":"Loss of MAFB function in humans and mice causes Duane syndrome, aberrant extraocular muscle innervation, and inner-ear defects","volume":"98","author":"Park","year":"2016","journal-title":"Am J Hum Genet."},{"issue":"3","key":"B9-20260901","doi-asserted-by":"crossref","first-page":"494","DOI":"10.1016\/j.ajhg.2012.01.003","article-title":"Multicentric carpotarsal osteolysis is caused by mutations clustering in the amino-terminal transcriptional activation domain of MAFB","volume":"90","author":"Zankl","year":"2012","journal-title":"Am J Hum Genet."},{"issue":"2","key":"B10-20260901","doi-asserted-by":"crossref","first-page":"396","DOI":"10.1016\/j.kint.2018.02.025","article-title":"MAFB mutation causes focal segmental glomerulosclerosis with duane retraction syndrome","volume":"94","author":"Sato","year":"2018","journal-title":"Kidney Int."},{"issue":"4","key":"B11-20260901","doi-asserted-by":"crossref","first-page":"649","DOI":"10.1053\/j.ajkd.2007.06.014","article-title":"Multicentric carpal-tarsal osteolysis with nephropathy treated successfully with cyclosporine A: a case report and literature review","volume":"50","author":"Connor","year":"2007","journal-title":"Am J Kidney Dis."},{"issue":"1","key":"B12-20260901","doi-asserted-by":"crossref","first-page":"164","DOI":"10.1186\/s12881-018-0682-x","article-title":"Three cases of multicentric carpotarsal osteolysis syndrome: a case series","volume":"19","author":"Park","year":"2018","journal-title":"BMC Med Genet."},{"issue":"8","key":"B13-20260901","doi-asserted-by":"crossref","first-page":"2477","DOI":"10.1002\/ajmg.a.62257","article-title":"A family with partially penetrant multicentric carpotarsal osteolysis due to gonadal mosaicism: first reported case","volume":"185","author":"N\u00e4rhi","year":"2021","journal-title":"Am J Med Genet A."},{"issue":"1","key":"B14-20260901","doi-asserted-by":"crossref","first-page":"103","DOI":"10.1538\/expanim.18-0093","article-title":"Mice harboring an MCTO mutation exhibit renal failure resembling nephropathy in human patients","volume":"68","author":"Tsunakawa","year":"2019","journal-title":"Exp Anim."},{"issue":"2","key":"B15-20260901","doi-asserted-by":"crossref","first-page":"452","DOI":"10.1016\/j.bbrc.2019.12.033","article-title":"Phenotypic analysis of mice carrying human-type MAFB p.Leu239Pro mutation","volume":"523","author":"Kanai","year":"2020","journal-title":"Biochem Biophys Res Commun."},{"issue":"10","key":"B16-20260901","doi-asserted-by":"crossref","first-page":"2633","DOI":"10.1172\/JCI28546.","article-title":"Selective tyrosine kinase inhibition by imatinib mesylate for the treatment of autoimmune arthritis","volume":"116","author":"Paniagua","year":"2006","journal-title":"J Clin Invest."},{"issue":"12","key":"B17-20260901","doi-asserted-by":"crossref","first-page":"3023","DOI":"10.1002\/ajmg.a.36151","article-title":"The identification of MAFB mutations in eight patients with multicentric carpo-tarsal osteolysis supports genetic homogeneity but clinical variability","volume":"161A","author":"Mehawej","year":"2013","journal-title":"Am J Med Genet A."},{"issue":"1","key":"B18-20260901","doi-asserted-by":"crossref","first-page":"102","DOI":"10.1016\/j.devcel.2019.06.001","article-title":"In vivo developmental trajectories of human podocyte inform in vitro differentiation of pluripotent stem cell-derived podocytes","volume":"50","author":"Tran","year":"2019","journal-title":"Dev Cell."},{"issue":"1","key":"B19-20260901","doi-asserted-by":"crossref","first-page":"94","DOI":"10.1016\/j.abb.2009.11.018","article-title":"MafB protein stability is regulated by the JNK and ubiquitin-proteasome pathways","volume":"494","author":"Tanahashi","year":"2010","journal-title":"Arch Biochem Biophys."},{"issue":"9","key":"B20-20260901","doi-asserted-by":"crossref","first-page":"2287","DOI":"10.1002\/ajmg.a.36641","article-title":"Multicentric carpotarsal osteolysis syndrome is caused by only a few domain-specific mutations in MAFB, a negative regulator of RANKL-induced osteoclastogenesis","volume":"164A","author":"Mumm","year":"2014","journal-title":"Am J Med Genet A."},{"issue":"1-2","key":"B21-20260901","doi-asserted-by":"crossref","first-page":"66","DOI":"10.1016\/j.gene.2009.06.003","article-title":"c-Maf is essential for the F4\/80 expression in macrophages in vivo","volume":"445","author":"Nakamura","year":"2009","journal-title":"Gene."},{"key":"B22-20260901","doi-asserted-by":"crossref","first-page":"128","DOI":"10.1186\/1471-2105-14-128","article-title":"Enrichr: interactive and collaborative HTML5 gene list enrichment analysis tool","volume":"14","author":"Chen","year":"2013","journal-title":"BMC Bioinformatics."},{"issue":"5300","key":"B23-20260901","doi-asserted-by":"crossref","first-page":"661","DOI":"10.1126\/science.275.5300.661","article-title":"Regulation of neuronal survival by the serine-threonine protein kinase Akt","volume":"275","author":"Dudek","year":"1997","journal-title":"Science."},{"issue":"10","key":"B24-20260901","doi-asserted-by":"crossref","first-page":"591","DOI":"10.1038\/ncponc0934","article-title":"Mechanisms of disease: signaling of the insulin-like growth factor 1 receptor pathway-therapeutic perspectives in cancer","volume":"4","author":"Tao","year":"2007","journal-title":"Nat Clin Pract Oncol."},{"issue":"2","key":"B25-20260901","doi-asserted-by":"crossref","first-page":"327","DOI":"10.1053\/j.ajkd.2014.05.024","article-title":"Insulin-like growth factors and kidney disease","volume":"65","author":"Bach","year":"2015","journal-title":"Am J Kidney Dis."},{"issue":"4","key":"B26-20260901","doi-asserted-by":"crossref","first-page":"605","DOI":"10.1016\/j.cell.2017.07.029","article-title":"The PI3K pathway in human disease","volume":"170","author":"Fruman","year":"2017","journal-title":"Cell."},{"issue":"14","key":"B27-20260901","doi-asserted-by":"crossref","first-page":"1031","DOI":"10.1056\/NEJM200104053441401","article-title":"Efficacy and safety of a specific inhibitor of the BCR-ABL tyrosine kinase in chronic myeloid leukemia","volume":"344","author":"Druker","year":"2001","journal-title":"N Engl J Med."},{"issue":"4","key":"B28-20260901","doi-asserted-by":"crossref","first-page":"391","DOI":"10.1007\/s00109-009-0575-8","article-title":"High-glucose and advanced glycosylation end products increased podocyte permeability via PI3-K\/Akt signaling","volume":"88","author":"Ha","year":"2010","journal-title":"J Mol Med (Berl)."},{"issue":"1","key":"B29-20260901","doi-asserted-by":"crossref","first-page":"133","DOI":"10.2215\/CJN.04010609","article-title":"Familial renal glucosuria and SGLT2: from a Mendelian trait to a therapeutic target","volume":"5","author":"Santer","year":"2010","journal-title":"Clin J Am Soc Nephrol."},{"key":"B30-20260901","doi-asserted-by":"crossref","first-page":"717065","DOI":"10.3389\/fphar.2021.717065","article-title":"Recent progresses in the treatment of osteoporosis","volume":"12","author":"Li","year":"2021","journal-title":"Front Pharmacol."},{"issue":"1","key":"B31-20260901","doi-asserted-by":"crossref","first-page":"1","DOI":"10.15252\/emmm.201708365","article-title":"Patients with rare diseases: from therapeutic orphans to pioneers of personalized treatments","volume":"10","author":"Klein","year":"2018","journal-title":"EMBO Mol Med."},{"issue":"1","key":"B32-20260901","doi-asserted-by":"crossref","first-page":"9","DOI":"10.1534\/genetics.117.203067","article-title":"Model organisms facilitate rare disease diagnosis and therapeutic research","volume":"207","author":"Wangler","year":"2017","journal-title":"Genetics."},{"issue":"9","key":"B33-20260901","doi-asserted-by":"crossref","first-page":"1713","DOI":"10.1242\/dev.015149","article-title":"The mutation ROR2W749X, linked to human BDB, is a recessive mutation in the mouse, causing brachydactyly, mediating patterning of joints and modeling recessive Robinow syndrome","volume":"135","author":"Raz","year":"2008","journal-title":"Development."},{"issue":"6","key":"B34-20260901","doi-asserted-by":"crossref","first-page":"e108","DOI":"10.1371\/journal.pgen.0030108","article-title":"Deletion at ITPR1 underlies ataxia in mice and spinocerebellar ataxia 15 in humans","volume":"3","author":"van de Leemput","year":"2007","journal-title":"PLoS Genet."},{"issue":"12","key":"B35-20260901","doi-asserted-by":"crossref","first-page":"993","DOI":"10.1002\/bies.950181209","article-title":"Mouse models of human genetic disease: which mouse is more like a man?","volume":"18","author":"Erickson","year":"1996","journal-title":"Bioessays."},{"issue":"4","key":"B36-20260901","doi-asserted-by":"crossref","first-page":"435","DOI":"10.1538\/expanim.18-0182","article-title":"Neuron-specific Mafb knockout causes growth retardation accompanied by an impaired growth hormone\/insulin-like growth factor I axis","volume":"68","author":"Maimaiti","year":"2019","journal-title":"Exp Anim."},{"key":"B37-20260901","doi-asserted-by":"crossref","first-page":"110479","DOI":"10.1016\/j.biopha.2020.110479","article-title":"Paecilomyces cicadae-fermented radix astragali activates podocyte autophagy by attenuating PI3K\/AKT\/mTOR pathways to protect against diabetic nephropathy in mice","volume":"129","author":"Yang","year":"2020","journal-title":"Biomed Pharmacother."},{"issue":"8","key":"B38-20260901","doi-asserted-by":"crossref","first-page":"2110","DOI":"10.1681\/ASN.2017121338","article-title":"The human FSGS-causing ANLN R431C mutation induces dysregulated PI3K\/AKT\/mTOR\/Rac1 signaling in podocytes","volume":"29","author":"Hall","year":"2018","journal-title":"J Am Soc Nephrol."},{"issue":"1","key":"B39-20260901","doi-asserted-by":"crossref","first-page":"2061","DOI":"10.1038\/s41467-019-09936-x","article-title":"Disruption of podocyte cytoskeletal biomechanics by dasatinib leads to nephrotoxicity","volume":"10","author":"Calizo","year":"2019","journal-title":"Nat Commun."}],"container-title":["Journal of the American Society of Nephrology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.ovid.com\/10.1681\/ASN.0000001060","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,9,1]],"date-time":"2026-09-01T17:00:36Z","timestamp":1788282036000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.ovid.com\/10.1681\/ASN.0000001060"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,3,17]]},"references-count":39,"journal-issue":{"issue":"9","published-print":{"date-parts":[[2026]]}},"URL":"https:\/\/doi.org\/10.1681\/asn.0000001060","relation":{},"ISSN":["1046-6673","1533-3450"],"issn-type":[{"value":"1046-6673","type":"print"},{"value":"1533-3450","type":"electronic"}],"subject":[],"published":{"date-parts":[[2026,3,17]]},"assertion":[{"value":"2024-02-19","name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2026-03-06","name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}}]}}