{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,1]],"date-time":"2025-10-01T15:44:54Z","timestamp":1759333494718},"reference-count":26,"publisher":"Springer Science and Business Media LLC","issue":"3","license":[{"start":{"date-parts":[[2003,2,7]],"date-time":"2003-02-07T00:00:00Z","timestamp":1044576000000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Pediatr Nephrol"],"published-print":{"date-parts":[[2003,3]]},"DOI":"10.1007\/s00467-002-1042-8","type":"journal-article","created":{"date-parts":[[2019,12,12]],"date-time":"2019-12-12T03:05:41Z","timestamp":1576119941000},"page":"297-300","source":"Crossref","is-referenced-by-count":8,"title":["End-stage renal failure in a child with X-linked ichthyosis"],"prefix":"10.1007","volume":"18","author":[{"given":"Hiro","family":"Matsukura","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tatsuya","family":"Fuchizawa","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Akio","family":"Ohtsuki","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hiroyuki","family":"Higashiyama","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Osamu","family":"Higuchi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Akira","family":"Higuchi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Toshio","family":"Miyawaki","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2003,2,7]]},"reference":[{"key":"1042_CR1","doi-asserted-by":"crossref","first-page":"622","DOI":"10.1111\/j.1365-2133.1994.tb04972.x","volume":"131","author":"Paige","year":"1994","unstructured":"Paige DG, Emilion GG, Bouloux PM, Harper JI (1994) A clinical and genetic study of X-linked recessive ichthyosis and contiguous gene defects. Br J Dermatol 131:622\u2013629","journal-title":"Br J Dermatol"},{"key":"1042_CR2","doi-asserted-by":"publisher","first-page":"617","DOI":"10.1046\/j.1365-2133.1999.03098.x","volume":"141","author":"Hernandez-Martin","year":"1999","unstructured":"Hernandez-Martin A, Gonzalez-Sarmiento R, De Unamuno P (1999) X-linked ichthyosis: an update. Br J Dermatol 141:617\u2013627","journal-title":"Br J Dermatol"},{"key":"1042_CR3","doi-asserted-by":"publisher","first-page":"600","DOI":"10.1136\/jmg.37.8.600","volume":"37","author":"Gohlke","year":"2000","unstructured":"Gohlke BC, Haug K, Fukami M, Friedl W, Noeker M, Rappold GA, Haverkamp F (2000) Interstitial deletion in Xp22.3 is associated with X linked ichthyosis, mental retardation, and epilepsy. J Med Genet 37:600\u2013602","journal-title":"J Med Genet"},{"key":"1042_CR4","doi-asserted-by":"crossref","first-page":"456","DOI":"10.1046\/j.1523-1747.2001.01259.x","volume":"116","author":"Valdes-Flores","year":"2001","unstructured":"Valdes-Flores M, Kofman-Alfaro SH, Vaca AL, Cuevas-Covarrubias SA (2001) Deletion of exons 1\u20135 of the STS gene causing X-linked ichthyosis. J Invest Dermatol 116:456\u2013458","journal-title":"J Invest Dermatol"},{"key":"1042_CR5","doi-asserted-by":"crossref","first-page":"279","DOI":"10.1038\/ng0395-279","volume":"9","author":"Russell","year":"1995","unstructured":"Russell L, DiGiovanna J, Rogers G, Steinert P, Hashem N, Compton J, Bale S (1995) Mutations in the gene for transglutaminase 1 in autosomal recessive lamellar ichthyosis. Nat Genet 9:279\u2013283","journal-title":"Nat Genet"},{"key":"1042_CR6","doi-asserted-by":"publisher","first-page":"2636","DOI":"10.1074\/jbc.275.4.2636","volume":"275","author":"Nemes","year":"2000","unstructured":"Nemes Z, Demeny M, Marekov LN, Fesus L, Steinert PM (2000) Cholesterol 3-sulfate interferes with cornified envelope assembly by diverting transglutaminase 1 activity from the formation of cross-links and esters to the hydrolysis of glutamine. J Biol Chem 275:2636\u20132646","journal-title":"J Biol Chem"},{"key":"1042_CR7","doi-asserted-by":"crossref","first-page":"143","DOI":"10.1002\/ajmg.1320590205","volume":"59","author":"Robledo","year":"1995","unstructured":"Robledo R, Melis P, Schillinger E, Casciano I, Balazs I, Rinaldi A, Siniscalco M, Filippi G (1995) X-linked ichthyosis without STS deficiency: clinical, genetical, and molecular studies. Am J Med Genet 59:143\u2013148","journal-title":"Am J Med Genet"},{"key":"1042_CR8","doi-asserted-by":"crossref","first-page":"561","DOI":"10.1182\/blood.V88.2.561.bloodjournal882561","volume":"88","author":"Hashimoto","year":"1996","unstructured":"Hashimoto S, Tsukada S, Matsushita M, Miyawaki T, Niida Y, Yachie A, Kobayashi S, Iwata T, Hayakawa H, Matsuoka H, Tsuge I, Yamadori T, Kunikata T, Arai S, Yoshizaki K, Taniguchi N, Kishimoto T (1996) Identification of Bruton's tyrosine kinase (Btk) gene mutations and characterization of the derived proteins in 35 X-linked agammaglobulinemia families: a nationwide study of Btk deficiency in Japan. Blood 88:561\u2013573","journal-title":"Blood"},{"key":"1042_CR9","doi-asserted-by":"crossref","first-page":"166","DOI":"10.1097\/00000441-196809000-00005","volume":"256","author":"Goyer","year":"1968","unstructured":"Goyer RA, Reynolds J Jr, Burke J, Burkholder P (1968) Hereditary renal disease with neurosensory hearing loss, prolinuria and ichthyosis. Am J Med Sci 256:166\u2013179","journal-title":"Am J Med Sci"},{"key":"1042_CR10","doi-asserted-by":"crossref","first-page":"766","DOI":"10.1016\/S0022-3476(78)80146-2","volume":"92","author":"Rayner","year":"1978","unstructured":"Rayner A, Lampert RP, Rennert OM (1978) Familial ichthyosis, dwarfism, mental retardation, and renal disease. J Pediatr 92:766\u2013768","journal-title":"J Pediatr"},{"key":"1042_CR11","doi-asserted-by":"crossref","first-page":"308","DOI":"10.1007\/BF00862505","volume":"4","author":"Deal","year":"1990","unstructured":"Deal JE, Barratt TM, Dillon MJ (1990) Fanconi syndrome, ichthyosis, dysmorphism, jaundice and diarrhoea\u2014a new syndrome. Pediatr Nephrol 4:308\u2013313","journal-title":"Pediatr Nephrol"},{"key":"1042_CR12","doi-asserted-by":"crossref","first-page":"529","DOI":"10.1086\/515498","volume":"61","author":"Laiho","year":"1997","unstructured":"Laiho E, Ignatius J, Mikkola H, Yee VC, Teller DC, Niemi KM, Saarialho-Kere U, Kere J, Palotie A (1997) Transglutaminase 1 mutations in autosomal recessive congenital ichthyosis: private and recurrent mutations in an isolated population. Am J Hum Genet 61:529\u2013538","journal-title":"Am J Hum Genet"},{"key":"1042_CR13","doi-asserted-by":"crossref","first-page":"78","DOI":"10.1007\/PL00014278","volume":"156","author":"Franceschini","year":"1997","unstructured":"Franceschini P, Barberis L (1997) Arthrogryposis, renal tubular dysfunction, cholestasis, ichthyosis syndrome (ARCI). Eur J Pediatr 156:78","journal-title":"Eur J Pediatr"},{"key":"1042_CR14","doi-asserted-by":"publisher","first-page":"77","DOI":"10.1055\/s-2000-9656","volume":"212","author":"Denecke","year":"2000","unstructured":"Denecke J, Zimmer KP, Kleta R, Koch HG, Rabe H, August C, Harms E (2000) [Arthrogryposis, renal tubular dysfunction, cholestasis (ARC) syndrome: case report and review of the literature]. Klin Padiatr 212:77\u201380","journal-title":"Klin Padiatr"},{"key":"1042_CR15","first-page":"181","volume":"29","author":"Schwartz","year":"1984","unstructured":"Schwartz RA, Williams ML (1984) Acquired ichthyosis: a marker for internal disease. Am Fam Physician 29:181\u2013184","journal-title":"Am Fam Physician"},{"key":"1042_CR16","doi-asserted-by":"crossref","first-page":"145","DOI":"10.1111\/j.1365-4362.1990.tb04090.x","volume":"29","author":"McGrae","year":"1990","unstructured":"McGrae JD Jr (1990) Keratitis, ichthyosis, and deafness (KID) syndrome with adult onset of keratitis component. Int J Dermatol 29:145\u2013146","journal-title":"Int J Dermatol"},{"key":"1042_CR17","doi-asserted-by":"crossref","first-page":"36","DOI":"10.1016\/0888-7543(89)90311-X","volume":"4","author":"Ballabio","year":"1989","unstructured":"Ballabio A, Carrozzo R, Parenti G, Gil A, Zollo M, Persico MG, Gillard E, Affara N, Yates J, Ferguson-Smith MA, et al. (1989) Molecular heterogeneity of steroid sulfatase deficiency: a multicenter study on 57 unrelated patients, at DNA and protein levels. Genomics 4:36\u201340","journal-title":"Genomics"},{"key":"1042_CR18","doi-asserted-by":"crossref","first-page":"8477","DOI":"10.1073\/pnas.86.21.8477","volume":"86","author":"Shapiro","year":"1989","unstructured":"Shapiro LJ, Yen P, Pomerantz D, Martin E, Rolewic L, Mohandas T (1989) Molecular studies of deletions at the human steroid sulfatase locus. Proc Natl Acad Sci U S A 86:8477\u20138481","journal-title":"Proc Natl Acad Sci U S A"},{"key":"1042_CR19","doi-asserted-by":"crossref","first-page":"340","DOI":"10.2340\/0001555575340342","volume":"75","author":"Nomura","year":"1995","unstructured":"Nomura K, Nakano H, Umeki K, Harada K, Kon A, Tamai K, Sawamura D, Hashimoto I (1995) A study of the steroid sulfatase gene in families with X-linked ichthyosis using polymerase chain reaction. Acta Derm Venereol 75:340\u2013342","journal-title":"Acta Derm Venereol"},{"key":"1042_CR20","doi-asserted-by":"publisher","first-page":"20756","DOI":"10.1074\/jbc.272.33.20756","volume":"272","author":"Alperin","year":"1997","unstructured":"Alperin ES, Shapiro LJ (1997) Characterization of point mutations in patients with X-linked ichthyosis. Effects on the structure and function of the steroid sulfatase protein. J Biol Chem 272:20756\u201320763","journal-title":"J Biol Chem"},{"key":"1042_CR21","doi-asserted-by":"publisher","first-page":"182","DOI":"10.1046\/j.1365-4362.2000.00915.x","volume":"39","author":"Aviram-Goldring","year":"2000","unstructured":"Aviram-Goldring A, Goldman B, Netanelov-Shapira I, Chen-Shtoyerman R, Zvulunov A, Tal O, Ilan T, Peleg L (2000) Deletion patterns of the STS gene and flanking sequences in Israeli X- linked ichthyosis patients and carriers: analysis by polymerase chain reaction and fluorescence in situ hybridization techniques. Int J Dermatol 39:182\u2013187","journal-title":"Int J Dermatol"},{"key":"1042_CR22","doi-asserted-by":"crossref","first-page":"591","DOI":"10.1046\/j.1523-1747.2000.00924.x","volume":"114","author":"Valdes-Flores","year":"2000","unstructured":"Valdes-Flores M, Kofman-Alfaro SH, Vaca AL, Cuevas-Covarrubias SA (2000) Mutation report: a novel partial deletion of exons 2\u201310 of the STS gene in recessive X-linked ichthyosis. J Invest Dermatol 114:591\u2013593","journal-title":"J Invest Dermatol"},{"key":"1042_CR23","doi-asserted-by":"publisher","first-page":"146","DOI":"10.1002\/ajmg.1450","volume":"102","author":"Valdes-Flores","year":"2001","unstructured":"Valdes-Flores M, Kofman-Alfaro SH, Jimenez-Vaca AL, Cuevas-Covarrubias SA (2001) Carrier identification by FISH analysis in isolated cases of X-linked ichthyosis. Am J Med Genet 102:146\u2013148","journal-title":"Am J Med Genet"},{"key":"1042_CR24","unstructured":"Clark AG, Barratt TM (1994) Minimal change nephrotic syndrome and focal segmental glomerulosclerosis. In: Holliday MA, Barratt TM, Avner ED (eds) Pediatric nephrology. Williams and Wilkins, USA, p 767"},{"key":"1042_CR25","doi-asserted-by":"publisher","first-page":"34148","DOI":"10.1074\/jbc.274.48.34148","volume":"274","author":"Hiiragi","year":"1999","unstructured":"Hiiragi T, Sasaki H, Nagafuchi A, Sabe H, Shen SC, Matsuki M, Yamanishi K, Tsukita S (1999) Transglutaminase type 1 and its cross-linking activity are concentrated at adherens junctions in simple epithelial cells. J Biol Chem 274:34148\u201334154","journal-title":"J Biol Chem"},{"key":"1042_CR26","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1681\/ASN.V1111","volume":"11","author":"Reiser","year":"2000","unstructured":"Reiser J, Kriz W, Kretzler M, Mundel P (2000) The glomerular slit diaphragm is a modified adherens junction. J Am Soc Nephrol 11:1\u20138","journal-title":"J Am Soc Nephrol"}],"container-title":["Pediatric Nephrology"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s00467-002-1042-8.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/article\/10.1007\/s00467-002-1042-8\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s00467-002-1042-8.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,23]],"date-time":"2023-09-23T22:03:03Z","timestamp":1695506583000},"score":1,"resource":{"primary":{"URL":"http:\/\/link.springer.com\/10.1007\/s00467-002-1042-8"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2003,2,7]]},"references-count":26,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2003,3]]}},"alternative-id":["1042"],"URL":"https:\/\/doi.org\/10.1007\/s00467-002-1042-8","relation":{},"ISSN":["0931-041X","1432-198X"],"issn-type":[{"value":"0931-041X","type":"print"},{"value":"1432-198X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2003,2,7]]}}}