{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,11]],"date-time":"2026-07-11T04:48:05Z","timestamp":1783745285151,"version":"3.55.0"},"reference-count":60,"publisher":"Springer Science and Business Media LLC","issue":"7","license":[{"start":{"date-parts":[[2013,4,18]],"date-time":"2013-04-18T00:00:00Z","timestamp":1366243200000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Hum Genet"],"published-print":{"date-parts":[[2013,7]]},"DOI":"10.1038\/jhg.2013.27","type":"journal-article","created":{"date-parts":[[2013,4,18]],"date-time":"2013-04-18T06:18:14Z","timestamp":1366265894000},"page":"480-489","source":"Crossref","is-referenced-by-count":48,"title":["A molecular genetic analysis of childhood nephrotic syndrome in a cohort of Saudi Arabian families"],"prefix":"10.1038","volume":"58","author":[{"given":"Mohamed H","family":"Al-Hamed","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Essam","family":"Al-Sabban","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hamad","family":"Al-Mojalli","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Naffaa","family":"Al-Harbi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eissa","family":"Faqeih","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hammad","family":"Al Shaya","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Khalid","family":"Alhasan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Safaa","family":"Al-Hissi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mohamed","family":"Rajab","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Noel","family":"Edwards","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Abbas","family":"Al-Abbad","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ibrahim","family":"Al-Hassoun","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"John A","family":"Sayer","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Brian F","family":"Meyer","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2013,4,18]]},"reference":[{"key":"BFjhg201327_CR1","doi-asserted-by":"publisher","first-page":"63","DOI":"10.1097\/01.gim.0000200947.09626.1c","volume":"8","author":"N Franceschini","year":"2006","unstructured":"Franceschini, N., North, K. E., Kopp, J. B., McKenzie, L. & Winkler, C. NPHS2 gene, nephrotic syndrome and focal segmental glomerulosclerosis: a HuGE review. Genet. Med. 8, 63\u201375 (2006).","journal-title":"Genet. Med."},{"key":"BFjhg201327_CR2","doi-asserted-by":"publisher","first-page":"3005","DOI":"10.1097\/01.ASN.0000039661.06947.FD","volume":"13","author":"P Mundel","year":"2002","unstructured":"Mundel, P. & Shankland, S. J. Podocyte biology and response to injury. J. Am. Soc. Nephrol. 13, 3005\u20133015 (2002).","journal-title":"J. Am. Soc. Nephrol."},{"key":"BFjhg201327_CR3","doi-asserted-by":"publisher","first-page":"R185","DOI":"10.1093\/hmg\/ddp328","volume":"18","author":"E Machuca","year":"2009","unstructured":"Machuca, E., Benoit, G. & Antignac, C. Genetics of nephrotic syndrome: connecting molecular genetics to podocyte physiology. Hum. Mol. Genet. 18, R185\u2013R194 (2009).","journal-title":"Hum. Mol. Genet."},{"key":"BFjhg201327_CR4","doi-asserted-by":"publisher","first-page":"2837","DOI":"10.1093\/ndt\/gfq434","volume":"25","author":"N Godefroid","year":"2010","unstructured":"Godefroid, N. & Dahan, K. Expanding the clinical spectrum of congenital nephrotic syndrome caused by NPHS1 mutations. Nephrol. Dial. Transplant. 25, 2837\u20132839 (2010).","journal-title":"Nephrol. Dial. Transplant."},{"key":"BFjhg201327_CR5","doi-asserted-by":"publisher","first-page":"e907","DOI":"10.1542\/peds.2006-2164","volume":"119","author":"BG Hinkes","year":"2007","unstructured":"Hinkes, B. G., Mucha, B., Vlangos, C. N., Gbadegesin, R., Liu, J., Hasselbacher, K. et al. Nephrotic syndrome in the first year of life: two thirds of cases are caused by mutations in 4 genes (NPHS1, NPHS2, WT1, and LAMB2). Pediatrics 119, e907\u2013e919 (2007).","journal-title":"Pediatrics"},{"key":"BFjhg201327_CR6","doi-asserted-by":"publisher","first-page":"162","DOI":"10.1055\/s-2008-1033800","volume":"194","author":"J Brodehl","year":"1982","unstructured":"Brodehl, J., Krohn, H. P. & Ehrich, J. H. The treatment of minimal change nephrotic syndrome (lipoid nephrosis): cooperative studies of the Arbeitsgemeinschaft fur Padiatrische Nephrologie (APN). Klin. Padiatr. 194, 162\u2013165 (1982).","journal-title":"Klin. Padiatr."},{"key":"BFjhg201327_CR7","doi-asserted-by":"publisher","first-page":"575","DOI":"10.1016\/S1097-2765(00)80057-X","volume":"1","author":"M Kestila","year":"1998","unstructured":"Kestila, M., Lenkkeri, U., Mannikko, M., Lamerdin, J., McCready, P., Putaala, H. et al. Positionally cloned gene for a novel glomerular protein\u2014nephrin\u2014is mutated in congenital nephrotic syndrome. Mol. Cell. 1, 575\u2013582 (1998).","journal-title":"Mol. Cell."},{"key":"BFjhg201327_CR8","doi-asserted-by":"publisher","first-page":"2970","DOI":"10.1093\/ndt\/gfq088","volume":"25","author":"DS Schoeb","year":"2010","unstructured":"Schoeb, D. S., Chernin, G., Heeringa, S. F., Matejas, V., Held, S., Vega-Warner, V. et al. Nineteen novel NPHS1 mutations in a worldwide cohort of patients with congenital nephrotic syndrome (CNS). Nephrol. Dial. Transplant. 25, 2970\u20132976 (2010).","journal-title":"Nephrol. Dial. Transplant."},{"key":"BFjhg201327_CR9","doi-asserted-by":"publisher","first-page":"1","DOI":"10.1093\/hmg\/10.1.1","volume":"10","author":"H Putaala","year":"2001","unstructured":"Putaala, H., Soininen, R., Kilpelainen, P., Wartiovaara, J. & Tryggvason, K. The murine nephrin gene is specifically expressed in kidney, brain and pancreas: inactivation of the gene leads to massive proteinuria and neonatal death. Hum. Mol. Genet. 10, 1\u20138 (2001).","journal-title":"Hum. Mol. Genet."},{"key":"BFjhg201327_CR10","doi-asserted-by":"publisher","first-page":"1621","DOI":"10.1007\/s00467-010-1495-0","volume":"25","author":"G Benoit","year":"2010","unstructured":"Benoit, G., Machuca, E. & Antignac, C. Hereditary nephrotic syndrome: a systematic approach for genetic testing and a review of associated podocyte gene mutations. Pediatr. Nephrol. 25, 1621\u20131632 (2010).","journal-title":"Pediatr. Nephrol."},{"key":"BFjhg201327_CR11","doi-asserted-by":"publisher","first-page":"344","DOI":"10.2215\/CJN.03770410","volume":"6","author":"S Santin","year":"2011","unstructured":"Santin, S., Tazon-Vega, B., Silva, I., Cobo, M. A., Gimenez, I., Ruiz, P. et al. Clinical value of NPHS2 analysis in early- and adult-onset steroid-resistant nephrotic syndrome. Clin. J. Am. Soc. Nephrol. 6, 344\u2013354 (2011).","journal-title":"Clin. J. Am. Soc. Nephrol."},{"key":"BFjhg201327_CR12","doi-asserted-by":"publisher","first-page":"1659","DOI":"10.1172\/JCI0216242","volume":"110","author":"H Tsukaguchi","year":"2002","unstructured":"Tsukaguchi, H., Sudhakar, A., Le, T. C., Nguyen, T., Yao, J., Schwimmer, J. A. et al. NPHS2 mutations in late-onset focal segmental glomerulosclerosis: R229Q is a common disease-associated allele. J. Clin. Invest. 110, 1659\u20131666 (2002).","journal-title":"J. Clin. Invest."},{"key":"BFjhg201327_CR13","doi-asserted-by":"publisher","first-page":"1397","DOI":"10.1038\/ng1918","volume":"38","author":"B Hinkes","year":"2006","unstructured":"Hinkes, B., Wiggins, R. C., Gbadegesin, R., Vlangos, C. N., Seelow, D., Nurnberg, G. et al. Positional cloning uncovers mutations in PLCE1 responsible for a nephrotic syndrome variant that may be reversible. Nat. Genet. 38, 1397\u20131405 (2006).","journal-title":"Nat. Genet."},{"key":"BFjhg201327_CR14","doi-asserted-by":"publisher","first-page":"1291","DOI":"10.1093\/ndt\/gfm759","volume":"23","author":"R Gbadegesin","year":"2008","unstructured":"Gbadegesin, R., Hinkes, B. G., Hoskins, B. E., Vlangos, C. N., Heeringa, S. F., Liu, J. et al. Mutations in PLCE1 are a major cause of isolated diffuse mesangial sclerosis (IDMS). Nephrol. Dial. Transplant. 23, 1291\u20131297 (2008).","journal-title":"Nephrol. Dial. Transplant."},{"key":"BFjhg201327_CR15","doi-asserted-by":"publisher","first-page":"1594","DOI":"10.1046\/j.1523-1755.1998.00948.x","volume":"53","author":"V Schumacher","year":"1998","unstructured":"Schumacher, V., Scharer, K., Wuhl, E., Altrogge, H., Bonzel, K. E., Guschmann, M. et al. Spectrum of early onset nephrotic syndrome associated with WT1 missense mutations. Kidney Int. 53, 1594\u20131600 (1998).","journal-title":"Kidney Int."},{"key":"BFjhg201327_CR16","doi-asserted-by":"publisher","first-page":"325","DOI":"10.1203\/01.pdr.0000196717.94518.f0","volume":"59","author":"B Mucha","year":"2006","unstructured":"Mucha, B., Ozaltin, F., Hinkes, B. G., Hasselbacher, K., Ruf, R. G., Schultheiss, M. et al. Mutations in the Wilms' tumor 1 gene cause isolated steroid resistant nephrotic syndrome and occur in exons 8 and 9. Pediatr. Res. 59, 325\u2013331 (2006).","journal-title":"Pediatr. Res."},{"key":"BFjhg201327_CR17","doi-asserted-by":"publisher","first-page":"1393","DOI":"10.1007\/s00467-006-0225-0","volume":"21","author":"F Aucella","year":"2006","unstructured":"Aucella, F., Bisceglia, L., De Bonis, P., Gigante, M., Caridi, G., Barbano, G. et al. WT1 mutations in nephrotic syndrome revisited. High prevalence in young girls, associations and renal phenotypes. Pediatr. Nephrol. 21, 1393\u20131398 (2006).","journal-title":"Pediatr. Nephrol."},{"key":"BFjhg201327_CR18","doi-asserted-by":"publisher","first-page":"1455","DOI":"10.1007\/s00467-008-0861-7","volume":"23","author":"G Chernin","year":"2008","unstructured":"Chernin, G., Heeringa, S. F., Gbadegesin, R., Liu, J., Hinkes, B. G., Vlangos, C. N. et al. Low prevalence of NPHS2 mutations in African American children with steroid-resistant nephrotic syndrome. Pediatr. Nephrol. 23, 1455\u20131460 (2008).","journal-title":"Pediatr. Nephrol."},{"key":"BFjhg201327_CR19","doi-asserted-by":"publisher","first-page":"1248","DOI":"10.1111\/j.1523-1755.2005.00202.x","volume":"67","author":"M Sako","year":"2005","unstructured":"Sako, M., Nakanishi, K., Obana, M., Yata, N., Hoshii, S., Takahashi, S. et al. Analysis of NPHS1, NPHS2, ACTN4, and WT1 in Japanese patients with congenital nephrotic syndrome. Kidney Int. 67, 1248\u20131255 (2005).","journal-title":"Kidney Int."},{"key":"BFjhg201327_CR20","doi-asserted-by":"publisher","first-page":"1008","DOI":"10.1038\/sj.ki.5001679","volume":"70","author":"K Hasselbacher","year":"2006","unstructured":"Hasselbacher, K., Wiggins, R. C., Matejas, V., Hinkes, B. G., Mucha, B., Hoskins, B. E. et al. Recessive missense mutations in LAMB2 expand the clinical spectrum of LAMB2-associated disorders. Kidney Int. 70, 1008\u20131012 (2006).","journal-title":"Kidney Int."},{"key":"BFjhg201327_CR21","doi-asserted-by":"publisher","first-page":"2625","DOI":"10.1093\/hmg\/ddh284","volume":"13","author":"M Zenker","year":"2004","unstructured":"Zenker, M., Aigner, T., Wendler, O., Tralau, T., Muntefering, H., Fenski, R. et al. Human laminin beta2 deficiency causes congenital nephrosis with mesangial sclerosis and distinct eye abnormalities. Hum. Mol. Genet. 13, 2625\u20132632 (2004).","journal-title":"Hum. Mol. Genet."},{"key":"BFjhg201327_CR22","doi-asserted-by":"publisher","first-page":"139","DOI":"10.1016\/j.ajhg.2011.05.026","volume":"89","author":"F Ozaltin","year":"2011","unstructured":"Ozaltin, F., Ibsirlioglu, T., Taskiran, E. Z., Baydar, D. E., Kaymaz, F., Buyukcelik, M. et al. Disruption of PTPRO causes childhood-onset nephrotic syndrome. Am. J. Hum. Genet. 89, 139\u2013147 (2011).","journal-title":"Am. J. Hum. Genet."},{"key":"BFjhg201327_CR23","doi-asserted-by":"publisher","first-page":"251","DOI":"10.1038\/73456","volume":"24","author":"JM Kaplan","year":"2000","unstructured":"Kaplan, J. M., Kim, S. H., North, K. N., Rennke, H., Correia, L. A., Tong, H. Q. et al. Mutations in ACTN4, encoding alpha-actinin-4, cause familial focal segmental glomerulosclerosis. Nat. Genet. 24, 251\u2013256 (2000).","journal-title":"Nat. Genet."},{"key":"BFjhg201327_CR24","doi-asserted-by":"publisher","first-page":"1766","DOI":"10.1097\/01.ASN.0000019842.50870.41","volume":"13","author":"T Palmen","year":"2002","unstructured":"Palmen, T., Lehtonen, S., Ora, A., Kerjaschki, D., Antignac, C., Lehtonen, E. et al. Interaction of endogenous nephrin and CD2-associated protein in mouse epithelial M-1 cell line. J. Am. Soc. Nephrol. 13, 1766\u20131772 (2002).","journal-title":"J. Am. Soc. Nephrol."},{"key":"BFjhg201327_CR25","doi-asserted-by":"publisher","first-page":"1621","DOI":"10.1172\/JCI200112849","volume":"108","author":"K Schwarz","year":"2001","unstructured":"Schwarz, K., Simons, M., Reiser, J., Saleem, M. A., Faul, C., Kriz, W. et al. Podocin, a raft-associated component of the glomerular slit diaphragm, interacts with CD2AP and nephrin. J. Clin. Invest. 108, 1621\u20131629 (2001).","journal-title":"J. Clin. Invest."},{"key":"BFjhg201327_CR26","doi-asserted-by":"publisher","first-page":"1198","DOI":"10.1038\/sj.ki.5002469","volume":"72","author":"MM Lowik","year":"2007","unstructured":"Lowik, M. M., Groenen, P. J., Pronk, I., Lilien, M. R., Goldschmeding, R., Dijkman, H. B. et al. Focal segmental glomerulosclerosis in a patient homozygous for a CD2AP mutation. Kidney Int. 72, 1198\u20131203 (2007).","journal-title":"Kidney Int."},{"key":"BFjhg201327_CR27","doi-asserted-by":"publisher","first-page":"3146","DOI":"10.1093\/ndt\/gfn208","volume":"23","author":"M Lowik","year":"2008","unstructured":"Lowik, M., Levtchenko, E., Westra, D., Groenen, P., Steenbergen, E., Weening, J. et al. Bigenic heterozygosity and the development of steroid-resistant focal segmental glomerulosclerosis. Nephrol. Dial. Transplant. 23, 3146\u20133151 (2008).","journal-title":"Nephrol. Dial. Transplant."},{"key":"BFjhg201327_CR28","doi-asserted-by":"publisher","first-page":"1801","DOI":"10.1126\/science.1106215","volume":"308","author":"MP Winn","year":"2005","unstructured":"Winn, M. P., Conlon, P. J., Lynn, K. L., Farrington, M. K., Creazzo, T., Hawkins, A. F. et al. A mutation in the TRPC6 cation channel causes familial focal segmental glomerulosclerosis. Science 308, 1801\u20131804 (2005).","journal-title":"Science"},{"key":"BFjhg201327_CR29","doi-asserted-by":"publisher","first-page":"1626","DOI":"10.2215\/CJN.07830910","volume":"6","author":"M Gigante","year":"2011","unstructured":"Gigante, M., Caridi, G., Montemurno, E., Soccio, M., d'Apolito, M., Cerullo, G. et al. TRPC6 mutations in children with steroid-resistant nephrotic syndrome and atypical phenotype. Clin. J. Am. Soc. Nephrol. 6, 1626\u20131634 (2011).","journal-title":"Clin. J. Am. Soc. Nephrol."},{"key":"BFjhg201327_CR30","doi-asserted-by":"publisher","first-page":"72","DOI":"10.1038\/ng.505","volume":"42","author":"EJ Brown","year":"2010","unstructured":"Brown, E. J., Schlondorff, J. S., Becker, D. J., Tsukaguchi, H., Tonna, S. J., Uscinski, A. L. et al. Mutations in the formin gene INF2 cause focal segmental glomerulosclerosis. Nat. Genet. 42, 72\u201376 (2010).","journal-title":"Nat. Genet."},{"key":"BFjhg201327_CR31","doi-asserted-by":"publisher","first-page":"295","DOI":"10.1056\/NEJMoa1101273","volume":"365","author":"C Mele","year":"2011","unstructured":"Mele, C., Iatropoulos, P., Donadelli, R., Calabria, A., Maranta, R., Cassis, P. et al. MYO1E mutations and childhood familial focal segmental glomerulosclerosis. N. Engl. J. Med. 365, 295\u2013306 (2011).","journal-title":"N. Engl. J. Med."},{"key":"BFjhg201327_CR32","doi-asserted-by":"publisher","first-page":"389","DOI":"10.1038\/ki.2011.148","volume":"80","author":"S Sanna-Cherchi","year":"2011","unstructured":"Sanna-Cherchi, S., Burgess, K. E., Nees, S. N., Caridi, G., Weng, P. L., Dagnino, M. et al. Exome sequencing identified MYO1E and NEIL1 as candidate genes for human autosomal recessive steroid-resistant nephrotic syndrome. Kidney Int. 80, 389\u2013396 (2011).","journal-title":"Kidney Int."},{"key":"BFjhg201327_CR33","doi-asserted-by":"publisher","first-page":"2345","DOI":"10.1007\/s00467-008-0836-8","volume":"24","author":"KV Lemley","year":"2009","unstructured":"Lemley, K. V. Kidney disease in nail-patella syndrome. Pediatr. Nephrol. 24, 2345\u20132354 (2009).","journal-title":"Pediatr. Nephrol."},{"key":"BFjhg201327_CR34","doi-asserted-by":"publisher","first-page":"1407","DOI":"10.1038\/ki.1994.184","volume":"45","author":"AH Cohen","year":"1994","unstructured":"Cohen, A. H. & Turner, M. C. Kidney in Galloway-Mowat syndrome: clinical spectrum with description of pathology. Kidney Int. 45, 1407\u20131415 (1994).","journal-title":"Kidney Int."},{"key":"BFjhg201327_CR35","doi-asserted-by":"publisher","first-page":"155","DOI":"10.1080\/02724936.1997.11747879","volume":"17","author":"M al Husain","year":"1997","unstructured":"al Husain, M. & al Bunyan, M. Consanguineous marriages in a Saudi population and the effect of inbreeding on prenatal and postnatal mortality. Ann. Trop. Paediatr. 17, 155\u2013160 (1997).","journal-title":"Ann. Trop. Paediatr."},{"key":"BFjhg201327_CR36","doi-asserted-by":"publisher","first-page":"75","DOI":"10.1023\/A:1018727005707","volume":"23","author":"AA al-Abdulkareem","year":"1998","unstructured":"al-Abdulkareem, A. A. & Ballal, S. G. Consanguineous marriage in an urban area of Saudi Arabia: rates and adverse health effects on the offspring. J. Community Health 23, 75\u201383 (1998).","journal-title":"J. Community Health"},{"key":"BFjhg201327_CR37","unstructured":"Dialysis in the Kingdom of Saudi Arabia. SCOT Data. Saudi J. Kidney. Dis. Transpl. 21, 789\u2013797 807-816 (2010)."},{"key":"BFjhg201327_CR38","doi-asserted-by":"publisher","first-page":"125","DOI":"10.1016\/j.transproceed.2003.11.037","volume":"36","author":"FA Shaheen","year":"2004","unstructured":"Shaheen, F. A. & Souqiyyeh, M. Z. Current status of renal transplantation in the Kingdom of Saudi Arabia. Transplant. Proc. 36, 125\u2013127 (2004).","journal-title":"Transplant. Proc."},{"key":"BFjhg201327_CR39","doi-asserted-by":"publisher","first-page":"2517","DOI":"10.1093\/emboj\/21.11.2517","volume":"21","author":"M Kollmar","year":"2002","unstructured":"Kollmar, M., Durrwang, U., Kliche, W., Manstein, D. J. & Kull, F. J. Crystal structure of the motor domain of a class-I myosin. EMBO J. 21, 2517\u20132525 (2002).","journal-title":"EMBO J."},{"key":"BFjhg201327_CR40","doi-asserted-by":"publisher","first-page":"779","DOI":"10.1006\/jmbi.1993.1626","volume":"234","author":"A Sali","year":"1993","unstructured":"Sali, A. & Blundell, T. L. Comparative protein modelling by satisfaction of spatial restraints. J. Mol. Biol. 234, 779\u2013815 (1993).","journal-title":"J. Mol. Biol."},{"key":"BFjhg201327_CR41","doi-asserted-by":"publisher","first-page":"951","DOI":"10.1093\/bioinformatics\/bti125","volume":"21","author":"J Soding","year":"2005","unstructured":"Soding, J. Protein homology detection by HMM-HMM comparison. Bioinformatics 21, 951\u2013960 (2005).","journal-title":"Bioinformatics"},{"key":"BFjhg201327_CR42","doi-asserted-by":"publisher","first-page":"51","DOI":"10.1086\/302182","volume":"64","author":"U Lenkkeri","year":"1999","unstructured":"Lenkkeri, U., Mannikko, M., McCready, P., Lamerdin, J., Gribouval, O., Niaudet, P. M. et al. Structure of the gene for congenital nephrotic syndrome of the finnish type (NPHS1) and characterization of mutations. Am. J. Hum. Genet. 64, 51\u201361 (1999).","journal-title":"Am. J. Hum. Genet."},{"key":"BFjhg201327_CR43","doi-asserted-by":"publisher","first-page":"368","DOI":"10.1002\/humu.1111","volume":"17","author":"O Beltcheva","year":"2001","unstructured":"Beltcheva, O., Martin, P., Lenkkeri, U. & Tryggvason, K. Mutation spectrum in the nephrin gene (NPHS1) in congenital nephrotic syndrome. Hum. Mutat. 17, 368\u2013373 (2001).","journal-title":"Hum. Mutat."},{"key":"BFjhg201327_CR44","doi-asserted-by":"publisher","first-page":"379","DOI":"10.1093\/hmg\/11.4.379","volume":"11","author":"A Koziell","year":"2002","unstructured":"Koziell, A., Grech, V., Hussain, S., Lee, G., Lenkkeri, U., Tryggvason, K. et al. Genotype\/phenotype correlations of NPHS1 and NPHS2 mutations in nephrotic syndrome advocate a functional inter-relationship in glomerular filtration. Hum. Mol. Genet. 11, 379\u2013388 (2002).","journal-title":"Hum. Mol. Genet."},{"key":"BFjhg201327_CR45","doi-asserted-by":"publisher","first-page":"1278","DOI":"10.1097\/01.ASN.0000060578.79050.E0","volume":"14","author":"G Caridi","year":"2003","unstructured":"Caridi, G., Bertelli, R., Di Duca, M., Dagnino, M., Emma, F., Onetti Muda, A. et al. Broadening the spectrum of diseases related to podocin mutations. J. Am. Soc. Nephrol. 14, 1278\u20131286 (2003).","journal-title":"J. Am. Soc. Nephrol."},{"key":"BFjhg201327_CR46","doi-asserted-by":"publisher","first-page":"1209","DOI":"10.1681\/ASN.2009121309","volume":"21","author":"E Machuca","year":"2010","unstructured":"Machuca, E., Benoit, G., Nevo, F., Tete, M. J., Gribouval, O., Pawtowski, A. et al. Genotype-phenotype correlations in non-Finnish congenital nephrotic syndrome. J. Am. Soc. Nephrol. 21, 1209\u20131217 (2010).","journal-title":"J. Am. Soc. Nephrol."},{"key":"BFjhg201327_CR47","doi-asserted-by":"publisher","first-page":"3527","DOI":"10.1093\/ndt\/gfn271","volume":"23","author":"SF Heeringa","year":"2008","unstructured":"Heeringa, S. F., Vlangos, C. N., Chernin, G., Hinkes, B., Gbadegesin, R., Liu, J. et al. Thirteen novel NPHS1 mutations in a large cohort of children with congenital nephrotic syndrome. Nephrol. Dial. Transplant. 23, 3527\u20133533 (2008).","journal-title":"Nephrol. Dial. Transplant."},{"key":"BFjhg201327_CR48","doi-asserted-by":"publisher","first-page":"349","DOI":"10.1038\/74166","volume":"24","author":"N Boute","year":"2000","unstructured":"Boute, N., Gribouval, O., Roselli, S., Benessy, F., Lee, H., Fuchshuber, A. et al. NPHS2, encoding the glomerular protein podocin, is mutated in autosomal recessive steroid-resistant nephrotic syndrome. Nat. Genet. 24, 349\u2013354 (2000).","journal-title":"Nat. Genet."},{"key":"BFjhg201327_CR49","doi-asserted-by":"publisher","first-page":"571","DOI":"10.1111\/j.1523-1755.2004.00776.x","volume":"66","author":"S Weber","year":"2004","unstructured":"Weber, S., Gribouval, O., Esquivel, E. L., Moriniere, V., Tete, M. J., Legendre, C. et al. NPHS2 mutation analysis shows genetic heterogeneity of steroid-resistant nephrotic syndrome and low post-transplant recurrence. Kidney Int. 66, 571\u2013579 (2004).","journal-title":"Kidney Int."},{"key":"BFjhg201327_CR50","first-page":"545","volume":"3","author":"M Al-Hamed","year":"2010","unstructured":"Al-Hamed, M., Sayer, J. A., Al-Hassoun, I., Aldahmesh, M. & Meyer, B. A novel mutation in NPHS2 causing nephrotic syndrome in a Saudi Arabian family. NDT Plus 3, 545\u2013548 (2010).","journal-title":"NDT Plus"},{"key":"BFjhg201327_CR51","doi-asserted-by":"publisher","first-page":"3397","DOI":"10.1093\/hmg\/ddg360","volume":"12","author":"TB Huber","year":"2003","unstructured":"Huber, T. B., Simons, M., Hartleben, B., Sernetz, L., Schmidts, M., Gundlach, E. et al. Molecular basis of the functional podocin-nephrin complex: mutations in the NPHS2 gene disrupt nephrin targeting to lipid raft microdomains. Hum. Mol. Genet. 12, 3397\u20133405 (2003).","journal-title":"Hum. Mol. Genet."},{"key":"BFjhg201327_CR52","doi-asserted-by":"publisher","first-page":"1065","DOI":"10.2215\/CJN.03910808","volume":"4","author":"G Caridi","year":"2009","unstructured":"Caridi, G., Gigante, M., Ravani, P., Trivelli, A., Barbano, G., Scolari, F. et al. Clinical features and long-term outcome of nephrotic syndrome associated with heterozygous NPHS1 and NPHS2 mutations. Clin. J. Am. Soc. Nephrol. 4, 1065\u20131072 (2009).","journal-title":"Clin. J. Am. Soc. Nephrol."},{"key":"BFjhg201327_CR53","doi-asserted-by":"publisher","first-page":"722","DOI":"10.1097\/01.ASN.0000113552.59155.72","volume":"15","author":"RG Ruf","year":"2004","unstructured":"Ruf, R. G., Lichtenberger, A., Karle, S. M., Haas, J. P., Anacleto, F. E., Schultheiss, M. et al. Patients with mutations in NPHS2 (podocin) do not respond to standard steroid treatment of nephrotic syndrome. J. Am. Soc. Nephrol. 15, 722\u2013732 (2004).","journal-title":"J. Am. Soc. Nephrol."},{"key":"BFjhg201327_CR54","doi-asserted-by":"publisher","first-page":"1858","DOI":"10.1093\/ndt\/gfn712","volume":"24","author":"M Gigante","year":"2009","unstructured":"Gigante, M., Pontrelli, P., Montemurno, E., Roca, L., Aucella, F., Penza, R. et al. CD2AP mutations are associated with sporadic nephrotic syndrome and focal segmental glomerulosclerosis (FSGS). Nephrol. Dial. Transplant. 24, 1858\u20131864 (2009).","journal-title":"Nephrol. Dial. Transplant."},{"key":"BFjhg201327_CR55","doi-asserted-by":"publisher","first-page":"992","DOI":"10.1002\/humu.21304","volume":"31","author":"V Matejas","year":"2010","unstructured":"Matejas, V., Hinkes, B., Alkandari, F., Al-Gazali, L., Annexstad, E., Aytac, M. B. et al. Mutations in the human laminin beta2 (LAMB2) gene and the associated phenotypic spectrum. Hum. Mutat. 31, 992\u20131002 (2010).","journal-title":"Hum. Mutat."},{"key":"BFjhg201327_CR56","doi-asserted-by":"publisher","first-page":"3972","DOI":"10.1073\/pnas.94.8.3972","volume":"94","author":"V Schumacher","year":"1997","unstructured":"Schumacher, V., Schneider, S., Figge, A., Wildhardt, G., Harms, D., Schmidt, D. et al. Correlation of germ-line mutations and two-hit inactivation of the WT1 gene with Wilms tumors of stromal-predominant histology. Proc. Natl Acad. Sci. USA 94, 3972\u20133977 (1997).","journal-title":"Proc. Natl Acad. Sci. USA"},{"key":"BFjhg201327_CR57","doi-asserted-by":"publisher","first-page":"1139","DOI":"10.2215\/CJN.05260610","volume":"6","author":"S Santin","year":"2011","unstructured":"Santin, S., Bullich, G., Tazon-Vega, B., Garcia-Maset, R., Gimenez, I., Silva, I. et al. Clinical utility of genetic testing in children and adults with steroid-resistant nephrotic syndrome. Clin. J. Am. Soc. Nephrol. 6, 1139\u20131148 (2011).","journal-title":"Clin. J. Am. Soc. Nephrol."},{"key":"BFjhg201327_CR58","doi-asserted-by":"publisher","first-page":"2031","DOI":"10.1007\/s00467-007-0595-y","volume":"22","author":"A Berdeli","year":"2007","unstructured":"Berdeli, A., Mir, S., Yavascan, O., Serdaroglu, E., Bak, M., Aksu, N. et al. NPHS2 (podicin) mutations in Turkish children with idiopathic nephrotic syndrome. Pediatr. Nephrol. 22, 2031\u20132040 (2007).","journal-title":"Pediatr. Nephrol."},{"key":"BFjhg201327_CR59","doi-asserted-by":"publisher","first-page":"445","DOI":"10.1007\/s00467-009-1372-x","volume":"25","author":"G Benoit","year":"2010","unstructured":"Benoit, G., Machuca, E., Nevo, F., Gribouval, O., Lepage, D. & Antignac, C. Analysis of recessive CD2AP and ACTN4 mutations in steroid-resistant nephrotic syndrome. Pediatr. Nephrol. 25, 445\u2013451 (2010).","journal-title":"Pediatr. Nephrol."},{"key":"BFjhg201327_CR60","doi-asserted-by":"publisher","first-page":"1340","DOI":"10.1007\/s00467-004-1629-3","volume":"19","author":"M Schultheiss","year":"2004","unstructured":"Schultheiss, M., Ruf, R. G., Mucha, B. E., Wiggins, R., Fuchshuber, A., Lichtenberger, A. et al. No evidence for genotype\/phenotype correlation in NPHS1 and NPHS2 mutations. Pediatr. Nephrol. 19, 1340\u20131348 (2004).","journal-title":"Pediatr. Nephrol."}],"container-title":["Journal of Human Genetics"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/www.nature.com\/articles\/jhg201327.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/www.nature.com\/articles\/jhg201327","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/www.nature.com\/articles\/jhg201327.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,5,18]],"date-time":"2023-05-18T17:31:36Z","timestamp":1684431096000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.nature.com\/articles\/jhg201327"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2013,4,18]]},"references-count":60,"journal-issue":{"issue":"7","published-print":{"date-parts":[[2013,7]]}},"alternative-id":["BFjhg201327"],"URL":"https:\/\/doi.org\/10.1038\/jhg.2013.27","relation":{},"ISSN":["1434-5161","1435-232X"],"issn-type":[{"value":"1434-5161","type":"print"},{"value":"1435-232X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2013,4,18]]}}}