{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,3]],"date-time":"2025-11-03T14:15:13Z","timestamp":1762179313894,"version":"build-2065373602"},"reference-count":66,"publisher":"MDPI AG","issue":"11","license":[{"start":{"date-parts":[[2025,10,31]],"date-time":"2025-10-31T00:00:00Z","timestamp":1761868800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Genes"],"abstract":"<jats:p>Nephrotic syndrome (NS) is a common type of kidney disease in children, marked by protein loss in urine, swelling, and low blood protein levels. It is more severe and prevalent in children of African descent, particularly in steroid-resistant forms. Many cases are primary and linked to mutations in genes such as NPHS1, NPHS2, and WT1. While whole-exome sequencing (WES) has advanced the identification of genetic causes globally, its application in African settings remains limited, leaving many cases undiagnosed. This review explores the potential of WES in improving NS diagnosis among African paediatric populations. A literature search was conducted using PubMed, Scopus, and Medline for studies published between 2015 and 2025 focusing on the application of WES in paediatric NS among individuals of African descent. From the 12 articles retrieved, three met the inclusion criteria. These publications reported variants in NPHS1, NPHS2, WT1, PLCE1, COL4A3, COL4A5, TRPC6, and LAMB2 among South African and Egyptian cohorts. WES remains underutilised in African NS research, hindered by limited resources, cost, and underrepresentation in genomic databases. Nonetheless, preliminary evidence suggests WES may contribute to improving diagnosis and guiding treatment through the identification of population-specific pathogenic variants. Increased investment in genomic infrastructure is important for maximising potential benefits and improving diagnostic capabilities.<\/jats:p>","DOI":"10.3390\/genes16111295","type":"journal-article","created":{"date-parts":[[2025,11,3]],"date-time":"2025-11-03T13:22:36Z","timestamp":1762176156000},"page":"1295","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Whole-Exome Sequencing for Molecular Diagnosis of Paediatric Nephrotic Syndrome in Africa: A Call for Implementation"],"prefix":"10.3390","volume":"16","author":[{"given":"Thina","family":"Gcobo","sequence":"first","affiliation":[{"name":"Division of Human Genetics, Department of Pathology, Institute of Infectious Disease and Molecular Medicine, Faculty of Health Sciences, University of Cape Town, Cape Town 7935, South Africa"},{"name":"Platform for Pharmacogenomics Research and Translation, South African Medical Research Council, Cape Town 7935, South Africa"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6812-6676","authenticated-orcid":false,"given":"Jonathan N.","family":"Katsukunya","sequence":"additional","affiliation":[{"name":"Division of Human Genetics, Department of Pathology, Institute of Infectious Disease and Molecular Medicine, Faculty of Health Sciences, University of Cape Town, Cape Town 7935, South Africa"},{"name":"Platform for Pharmacogenomics Research and Translation, South African Medical Research Council, Cape Town 7935, South Africa"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8304-4409","authenticated-orcid":false,"given":"Lindie","family":"Lamola","sequence":"additional","affiliation":[{"name":"Division of Human Genetics, National Health Laboratory Service, School of Pathology, Faculty of Health Sciences, University of the Witwatersrand, Johannesburg 2193, South Africa"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Denis","family":"Awany","sequence":"additional","affiliation":[{"name":"South African Tuberculosis Vaccine Initiative, Institute of Infectious Disease and Molecular Medicine, Division of Immunology, University of Cape Town, Cape Town 7935, South Africa"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Arinao","family":"Ndadza","sequence":"additional","affiliation":[{"name":"Department of Molecular Medicine and Haematology, School of Pathology, Faculty of Health Sciences, University of the Witwatersrand, Johannesburg 2193, South Africa"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5925-4895","authenticated-orcid":false,"given":"Collet","family":"Dandara","sequence":"additional","affiliation":[{"name":"Division of Human Genetics, Department of Pathology, Institute of Infectious Disease and Molecular Medicine, Faculty of Health Sciences, University of Cape Town, Cape Town 7935, South Africa"},{"name":"Platform for Pharmacogenomics Research and Translation, South African Medical Research Council, Cape Town 7935, South Africa"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8461-1372","authenticated-orcid":false,"given":"Khuthala","family":"Mnika","sequence":"additional","affiliation":[{"name":"Division of Human Genetics, Department of Pathology, Institute of Infectious Disease and Molecular Medicine, Faculty of Health Sciences, University of Cape Town, Cape Town 7935, South Africa"},{"name":"Platform for Pharmacogenomics Research and Translation, South African Medical Research Council, Cape Town 7935, South Africa"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1968","published-online":{"date-parts":[[2025,10,31]]},"reference":[{"key":"ref_1","first-page":"13","article-title":"Nephrotic Syndrome in Children","volume":"122","author":"Bagga","year":"2005","journal-title":"Indian J. Med. Res."},{"key":"ref_2","unstructured":"Tapia, C., and Bashir, K. (2025, August 11). Nephrotic Syndrome; Updated 2023 May 29, StatPearls [Internet], Available online: https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK470444\/."},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"S241","DOI":"10.1016\/j.kint.2024.11.007","article-title":"KDIGO 2025 Clinical Practice Guideline for the Management of Nephrotic Syndrome in Children","volume":"107","author":"Floege","year":"2025","journal-title":"Kidney Int."},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"309","DOI":"10.1159\/000509359","article-title":"Nomenclature for Kidney Function and Disease: Executive Summary and Glossary from a Kidney Disease: Improving Global Outcomes (KDIGO) Consensus Conference","volume":"6","author":"Levey","year":"2020","journal-title":"Kidney Dis."},{"key":"ref_5","doi-asserted-by":"crossref","unstructured":"Chanchlani, R., and Parekh, R.S. (2016). Ethnic Differences in Childhood Nephrotic Syndrome. Front. Pediatr., 4.","DOI":"10.3389\/fped.2016.00039"},{"key":"ref_6","first-page":"11","article-title":"Diagnosis and Management of Nephrotic Syndrome","volume":"261","author":"McCloskey","year":"2017","journal-title":"Practitioner"},{"key":"ref_7","doi-asserted-by":"crossref","first-page":"259","DOI":"10.1080\/20469047.2017.1374002","article-title":"Childhood Nephrotic Syndrome in Tropical Africa: Then and Now","volume":"37","author":"Olowu","year":"2017","journal-title":"Paediatr. Int. Child. Health"},{"key":"ref_8","doi-asserted-by":"crossref","first-page":"100061","DOI":"10.1016\/j.gloepi.2021.100061","article-title":"Trends in the Epidemiology of Childhood Nephrotic Syndrome in Africa: A Systematic Review","volume":"3","author":"Wine","year":"2021","journal-title":"Glob. Epidemiol."},{"key":"ref_9","doi-asserted-by":"crossref","unstructured":"Li, N., Hao, J., Fu, T., and Du, Y. (2021). Evaluating the Quality of Life of 231 Children With Primary Nephrotic Syndrome and Assessing Parental Awareness of the Disease. Front. Pediatr., 9.","DOI":"10.3389\/fped.2021.745444"},{"key":"ref_10","doi-asserted-by":"crossref","first-page":"73","DOI":"10.1016\/j.pcl.2018.08.006","article-title":"Nephrotic Syndrome","volume":"66","author":"Wang","year":"2019","journal-title":"Pediatr. Clin. N. Am."},{"key":"ref_11","doi-asserted-by":"crossref","first-page":"e907","DOI":"10.1542\/peds.2006-2164","article-title":"Nephrotic Syndrome in the First Year of Life: Two Thirds of Cases Are Caused by Mutations in 4 Genes (NPHS1, NPHS2, WT1, and LAMB2)","volume":"119","author":"Hinkes","year":"2007","journal-title":"Pediatrics"},{"key":"ref_12","doi-asserted-by":"crossref","first-page":"458","DOI":"10.1093\/ndt\/gfy015","article-title":"Treatment and Outcome of Congenital Nephrotic Syndrome","volume":"34","author":"Heidet","year":"2019","journal-title":"Nephrol. Dial. Transplant."},{"key":"ref_13","doi-asserted-by":"crossref","first-page":"1354","DOI":"10.1016\/j.ekir.2018.07.017","article-title":"NPHS2 V260E Is a Frequent Cause of Steroid-Resistant Nephrotic Syndrome in Black South African Children","volume":"3","author":"Asharam","year":"2018","journal-title":"Kidney Int. Rep."},{"key":"ref_14","first-page":"263","article-title":"Disease Variations in Asians in Leicester","volume":"86","author":"Feehally","year":"1993","journal-title":"QJM Int. J. Med."},{"key":"ref_15","doi-asserted-by":"crossref","first-page":"1040","DOI":"10.1007\/s004670100021","article-title":"Time Trends and Ethnic Patterns of Childhood Nephrotic Syndrome in Yorkshire, UK","volume":"16","author":"McKinney","year":"2001","journal-title":"Pediatr. Nephrol."},{"key":"ref_16","doi-asserted-by":"crossref","first-page":"13","DOI":"10.1007\/s004670050555","article-title":"High Incidence of Focal Segmental Glomerulosclerosis in Nephrotic Syndrome of Childhood","volume":"13","author":"Srivastava","year":"1999","journal-title":"Pediatr. Nephrol."},{"key":"ref_17","doi-asserted-by":"crossref","first-page":"3595","DOI":"10.1007\/s00431-022-04581-x","article-title":"Causal and Putative Pathogenic Mutations Identified in 39% of Children with Primary Steroid-Resistant Nephrotic Syndrome in South Africa","volume":"181","author":"Nandlal","year":"2022","journal-title":"Eur. J. Pediatr."},{"key":"ref_18","doi-asserted-by":"crossref","first-page":"937","DOI":"10.1016\/j.kint.2016.10.013","article-title":"Genomic and Clinical Profiling of a National Nephrotic Syndrome Cohort Advocates a Precision Medicine Approach to Disease Management","volume":"91","author":"Bierzynska","year":"2017","journal-title":"Kidney Int."},{"key":"ref_19","doi-asserted-by":"crossref","unstructured":"Trautmann, A., Lipska-Zi\u0119tkiewicz, B.S., and Schaefer, F. (2018). Exploring the Clinical and Genetic Spectrum of Steroid Resistant Nephrotic Syndrome: The PodoNet Registry. Front. Pediatr., 6.","DOI":"10.3389\/fped.2018.00200"},{"key":"ref_20","doi-asserted-by":"crossref","first-page":"2003","DOI":"10.1007\/s00467-022-05831-8","article-title":"Hiding in Plain Sight: Genetics of Childhood Steroid-Resistant Nephrotic Syndrome in Sub-Saharan Africa","volume":"38","author":"Williams","year":"2023","journal-title":"Pediatr. Nephrol."},{"key":"ref_21","doi-asserted-by":"crossref","first-page":"n71","DOI":"10.1136\/bmj.n71","article-title":"The PRISMA 2020 Statement: An Updated Guideline for Reporting Systematic Reviews","volume":"372","author":"Page","year":"2021","journal-title":"BMJ"},{"key":"ref_22","doi-asserted-by":"crossref","first-page":"1324","DOI":"10.1111\/apa.16732","article-title":"Genetic Stratification Reveals COL4A Variants and Spontaneous Remission in Egyptian Children with Proteinuria in the First 2 Years of Life","volume":"112","author":"Elshafey","year":"2023","journal-title":"Acta Paediatr. Int. J. Paediatr."},{"key":"ref_23","doi-asserted-by":"crossref","first-page":"1885","DOI":"10.1093\/ndt\/gfy176","article-title":"APOL1 Risk Genotype in European Steroid-Resistant Nephrotic Syndrome and\/or Focal Segmental Glomerulosclerosis Patients of Different African Ancestries","volume":"34","author":"Gribouval","year":"2019","journal-title":"Nephrol. Dial. Transplant."},{"key":"ref_24","doi-asserted-by":"crossref","first-page":"727","DOI":"10.1007\/s00439-025-02752-y","article-title":"Whole Genome Sequencing Identifies Monogenic Disease in 56.1% of Families with Early-Onset Steroid-Resistant Nephrotic Syndrome","volume":"144","author":"Soliman","year":"2025","journal-title":"Hum. Genet."},{"key":"ref_25","doi-asserted-by":"crossref","first-page":"1978","DOI":"10.1093\/bioinformatics\/bty897","article-title":"VarSome: The Human Genomic Variant Search Engine","volume":"35","author":"Kopanos","year":"2019","journal-title":"Bioinformatics"},{"key":"ref_26","doi-asserted-by":"crossref","first-page":"D980","DOI":"10.1093\/nar\/gkt1113","article-title":"ClinVar: Public Archive of Relationships among Sequence Variation and Human Phenotype","volume":"42","author":"Landrum","year":"2014","journal-title":"Nucleic Acids Res."},{"key":"ref_27","doi-asserted-by":"crossref","first-page":"1614","DOI":"10.1681\/ASN.2016040387","article-title":"MAGI2 Mutations Cause Congenital Nephrotic Syndrome","volume":"28","author":"Bierzynska","year":"2017","journal-title":"J. Am. Soc. Nephrol."},{"key":"ref_28","doi-asserted-by":"crossref","first-page":"344","DOI":"10.1136\/adc.51.5.344","article-title":"Congenital Nephrotic Syndrome of Finnish Type Study of 75 Patients","volume":"51","author":"Huttunen","year":"1976","journal-title":"Arch. Dis. Child."},{"key":"ref_29","first-page":"215","article-title":"The Familial Nephrotic Syndrome. I. A European Survey","volume":"1","author":"White","year":"1973","journal-title":"Clin. Nephrol."},{"key":"ref_30","doi-asserted-by":"crossref","first-page":"1299","DOI":"10.1016\/S0140-6736(70)91905-7","article-title":"Pathology of the Nephrotic Syndrome in Children: A Report for the International Study of Kidney Disease in Children","volume":"295","author":"Churg","year":"1970","journal-title":"Lancet"},{"key":"ref_31","doi-asserted-by":"crossref","first-page":"1659","DOI":"10.1172\/JCI0216242","article-title":"NPHS2 Mutations in Late-Onset Focal Segmental Glomerulosclerosis: R229Q Is a Common Disease-Associated Allele","volume":"110","author":"Tsukaguchi","year":"2002","journal-title":"J. Clin. Investig."},{"key":"ref_32","doi-asserted-by":"crossref","first-page":"575","DOI":"10.1016\/S1097-2765(00)80057-X","article-title":"Positionally Cloned Gene for a Novel Glomerular Protein\u2014Nephrin\u2014Is Mutated in Congenital Nephrotic Syndrome","volume":"1","author":"Lenkkeri","year":"1998","journal-title":"Mol. Cell"},{"key":"ref_33","doi-asserted-by":"crossref","first-page":"125","DOI":"10.1038\/75532","article-title":"Correction to \u201cNPHS2, Encoding the Glomerular Protein Podocin, Is Mutated in Autosomal Recessive Steroid-Resistant Nephrotic Syndrome\u201d","volume":"25","author":"Boute","year":"2000","journal-title":"Nat. Genet."},{"key":"ref_34","doi-asserted-by":"crossref","first-page":"1279","DOI":"10.1681\/ASN.2014050489","article-title":"A Single-Gene Cause in 29.5% of Cases of Steroid-Resistant Nephrotic Syndrome","volume":"26","author":"Sadowski","year":"2015","journal-title":"J. Am. Soc. Nephrol."},{"key":"ref_35","doi-asserted-by":"crossref","first-page":"2970","DOI":"10.1093\/ndt\/gfq088","article-title":"Nineteen Novel NPHS1 Mutations in a Worldwide Cohort of Patients with Congenital Nephrotic Syndrome (CNS)","volume":"25","author":"Schoeb","year":"2010","journal-title":"Nephrol. Dial. Transplant."},{"key":"ref_36","doi-asserted-by":"crossref","first-page":"913","DOI":"10.1016\/j.ekir.2022.01.1047","article-title":"High Incidence of COL4A Genetic Variants Among a Cohort of Children With Steroid-Resistant Nephrotic Syndrome From Eastern India","volume":"7","author":"Sinha","year":"2022","journal-title":"Kidney Int. Rep."},{"key":"ref_37","doi-asserted-by":"crossref","first-page":"241","DOI":"10.1007\/s00467-010-1694-8","article-title":"Novel Mutations in Steroid-Resistant Nephrotic Syndrome Diagnosed in Tunisian Children","volume":"26","author":"Mbarek","year":"2011","journal-title":"Pediatr. Nephrol."},{"key":"ref_38","doi-asserted-by":"crossref","first-page":"689","DOI":"10.1007\/s00438-022-01877-3","article-title":"Spectrum of NPHS1 and NPHS2 Variants in Egyptian Children with Focal Segmental Glomerular Sclerosis: Identification of Six Novel Variants and Founder Effect","volume":"297","author":"Thomas","year":"2022","journal-title":"Mol. Genet. Genom."},{"key":"ref_39","doi-asserted-by":"crossref","unstructured":"Govender, M.A., Fabian, J., Gottlich, E., Levy, C., Moonsamy, G., Maher, H., Winkler, C.A., and Ramsay, M. (2019). The Podocin V260E Mutation Predicts Steroid Resistant Nephrotic Syndrome in Black South African Children with Focal Segmental Glomerulosclerosis. Commun. Biol., 2.","DOI":"10.1038\/s42003-019-0658-1"},{"key":"ref_40","doi-asserted-by":"crossref","first-page":"399","DOI":"10.1053\/j.ajkd.2017.10.013","article-title":"HLA-DQA1 and APOL1 as Risk Loci for Childhood-Onset Steroid-Sensitive and Steroid-Resistant Nephrotic Syndrome","volume":"71","author":"Adeyemo","year":"2018","journal-title":"Am. J. Kidney Dis."},{"key":"ref_41","doi-asserted-by":"crossref","unstructured":"Ruchi, R., Genovese, G., Lee, J., Charoonratana, V.T., Bernhardy, A.J., Alper, S.L., Kopp, J.B., Thadhani, R., Friedman, D.J., and Pollak, M.R. (2015). Copy Number Variation at the APOL1 Locus. PLoS ONE, 10.","DOI":"10.1371\/journal.pone.0125410"},{"key":"ref_42","first-page":"841","article-title":"Association of Trypanolytic ApoL1 Variants with Kidney Disease in African Americans","volume":"329","author":"Genovese","year":"2010","journal-title":"Science (1979)"},{"key":"ref_43","doi-asserted-by":"crossref","first-page":"422","DOI":"10.1053\/j.ackd.2014.06.001","article-title":"Familial FSGS","volume":"21","author":"Pollak","year":"2014","journal-title":"Adv. Chronic Kidney Dis."},{"key":"ref_44","doi-asserted-by":"crossref","first-page":"571","DOI":"10.1111\/j.1523-1755.2004.00776.x","article-title":"NPHS2 Mutation Analysis Shows Genetic Heterogeneity of Steroid-Resistant Nephrotic Syndrome and Low Post-Transplant Recurrence","volume":"66","author":"Weber","year":"2004","journal-title":"Kidney Int."},{"key":"ref_45","doi-asserted-by":"crossref","first-page":"972","DOI":"10.1046\/j.1523-1755.2000.00254.x","article-title":"Congenital Nephrotic Syndrome (NPHS1): Features Resulting from Different Mutations in Finnish Patients","volume":"58","author":"Patrakka","year":"2000","journal-title":"Kidney Int."},{"key":"ref_46","doi-asserted-by":"crossref","first-page":"135","DOI":"10.1007\/s00438-019-01609-0","article-title":"Promises and Pitfalls of Whole-Exome Sequencing Exemplified by a Nephrotic Syndrome Family","volume":"295","author":"Guaragna","year":"2020","journal-title":"Mol. Genet. Genom."},{"key":"ref_47","doi-asserted-by":"crossref","first-page":"745","DOI":"10.1007\/s00467-017-3698-0","article-title":"Whole Exome Sequencing: A State-of-the-Art Approach for Defining (and Exploring!) Genetic Landscapes in Pediatric Nephrology","volume":"33","author":"Gulati","year":"2018","journal-title":"Pediatr. Nephrol."},{"key":"ref_48","doi-asserted-by":"crossref","first-page":"201","DOI":"10.1681\/ASN.2018060575","article-title":"Whole-Exome Sequencing Enables a Precision Medicine Approach for Kidney Transplant Recipients","volume":"30","author":"Mann","year":"2019","journal-title":"J. Am. Soc. Nephrol."},{"key":"ref_49","doi-asserted-by":"crossref","first-page":"F24","DOI":"10.1152\/ajprenal.00683.2014","article-title":"Translating Genetic Findings in Hereditary Nephrotic Syndrome: The Missing Loops","volume":"309","author":"Hall","year":"2015","journal-title":"Am. J. Physiol.-Ren. Physiol."},{"key":"ref_50","doi-asserted-by":"crossref","first-page":"796","DOI":"10.1016\/j.kint.2017.06.018","article-title":"Common Elements in Rare Kidney Diseases: Conclusions from a Kidney Disease: Improving Global Outcomes (KDIGO) Controversies Conference","volume":"92","author":"Bockenhauer","year":"2017","journal-title":"Kidney Int."},{"key":"ref_51","doi-asserted-by":"crossref","first-page":"433","DOI":"10.1038\/nrneph.2014.95","article-title":"Next-Generation Sequencing for Research and Diagnostics in Kidney Disease","volume":"10","author":"Renkema","year":"2014","journal-title":"Nat. Rev. Nephrol."},{"key":"ref_52","doi-asserted-by":"crossref","first-page":"728","DOI":"10.1007\/s10461-021-03432-4","article-title":"The Costs of Creatinine Testing in the Context of a HIV Pre-Exposure Prophylaxis Demonstration Project in Eswatini","volume":"26","author":"Kohler","year":"2022","journal-title":"AIDS Behav."},{"key":"ref_53","unstructured":"Wetterstrand, K.A. (2013). DNA Sequencing Costs: Data from the NHGRI Genome Sequencing Program (GSP), National Human Genome Research Institute."},{"key":"ref_54","doi-asserted-by":"crossref","first-page":"581","DOI":"10.1038\/s41576-020-0272-6","article-title":"The Road Ahead in Genetics and Genomics","volume":"21","author":"McGuire","year":"2020","journal-title":"Nat. Rev. Genet."},{"key":"ref_55","doi-asserted-by":"crossref","unstructured":"de Vries, J., Munung, S.N., Matimba, A., McCurdy, S., Ouwe Missi Oukem-Boyer, O., Staunton, C., Yakubu, A., and Tindana, P. (2017). Regulation of Genomic and Biobanking Research in Africa: A Content Analysis of Ethics Guidelines, Policies and Procedures from 22 African Countries. BMC Med. Ethics, 18.","DOI":"10.1186\/s12910-016-0165-6"},{"key":"ref_56","doi-asserted-by":"crossref","first-page":"499","DOI":"10.1146\/annurev-genom-111521-102452","article-title":"Five Priorities of African Genomics Research: The Next Frontier","volume":"23","author":"Wonkam","year":"2022","journal-title":"Annu. Rev. Genom. Hum. Genet."},{"key":"ref_57","doi-asserted-by":"crossref","first-page":"473","DOI":"10.1007\/s00467-017-3819-9","article-title":"Clinical and Genetic Heterogeneity in Familial Steroid-Sensitive Nephrotic Syndrome","volume":"33","author":"Dorval","year":"2018","journal-title":"Pediatr. Nephrol."},{"key":"ref_58","doi-asserted-by":"crossref","first-page":"eabe1386","DOI":"10.1126\/sciadv.abe1386","article-title":"Recessive NOS1AP Variants Impair Actin Remodeling and Cause Glomerulopathy in Humans and Mice","volume":"7","author":"Majmundar","year":"2021","journal-title":"Sci. Adv."},{"key":"ref_59","doi-asserted-by":"crossref","first-page":"1109","DOI":"10.2215\/CJN.09010813","article-title":"Rapid Detection of Monogenic Causes of Childhood-Onset Steroid-Resistant Nephrotic Syndrome","volume":"9","author":"Lovric","year":"2014","journal-title":"Clin. J. Am. Soc. Nephrol."},{"key":"ref_60","doi-asserted-by":"crossref","first-page":"119","DOI":"10.2147\/IJNRD.S193874","article-title":"Prospects of Genetic Testing for Steroid-Resistant Nephrotic Syndrome in Nigerian Children: A Narrative Review of Challenges and Opportunities","volume":"12","author":"Anigilaje","year":"2019","journal-title":"Int. J. Nephrol. Renovasc. Dis."},{"key":"ref_61","doi-asserted-by":"crossref","unstructured":"Roman, M., and Nowicki, M. (2024). Detailed Pathophysiology of Minimal Change Disease: Insights into Podocyte Dysfunction, Immune Dysregulation, and Genetic Susceptibility. Int. J. Mol. Sci., 25.","DOI":"10.3390\/ijms252212174"},{"key":"ref_62","doi-asserted-by":"crossref","unstructured":"Goetsch, A.L., Kimelman, D., and Woodruff, T.K. (2017). Fertility Preservation and Restoration for Patients with Complex Medical Conditions, Springer International Publishing.","DOI":"10.1007\/978-3-319-52316-3"},{"key":"ref_63","unstructured":"Colvin, R.B., Chang, A., Farris, A.B., Kambham, N., Cornell, L.D., Meehan, S.M., Liapis, H., Gaut, J.P., Bonsib, S.M., and Seshan, S.V. (2015). Diagnostic Pathology: Kidney Diseases: A Volume in Diagnostic Pathology, Elsevier."},{"key":"ref_64","doi-asserted-by":"crossref","first-page":"324","DOI":"10.1186\/s12964-023-01218-w","article-title":"Effects of a Novel ANLN E841K Mutation Associated with SRNS on Podocytes and Its Mechanism","volume":"21","author":"Lin","year":"2023","journal-title":"Cell Commun. Signal."},{"key":"ref_65","doi-asserted-by":"crossref","first-page":"1205","DOI":"10.1093\/molbev\/msw005","article-title":"267 Spanish Exomes Reveal Population-Specific Differences in Disease-Related Genetic Variation","volume":"33","author":"Dopazo","year":"2016","journal-title":"Mol. Biol. Evol."},{"key":"ref_66","doi-asserted-by":"crossref","unstructured":"Esezobor, C.I., Solarin, A.U., and Gbadegesin, R. (2020). Changing Epidemiology of Nephrotic Syndrome in Nigerian Children: A Cross-Sectional Study. PLoS ONE, 15.","DOI":"10.1371\/journal.pone.0239300"}],"container-title":["Genes"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.mdpi.com\/2073-4425\/16\/11\/1295\/pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,11,3]],"date-time":"2025-11-03T13:26:44Z","timestamp":1762176404000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.mdpi.com\/2073-4425\/16\/11\/1295"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,10,31]]},"references-count":66,"journal-issue":{"issue":"11","published-online":{"date-parts":[[2025,11]]}},"alternative-id":["genes16111295"],"URL":"https:\/\/doi.org\/10.3390\/genes16111295","relation":{},"ISSN":["2073-4425"],"issn-type":[{"value":"2073-4425","type":"electronic"}],"subject":[],"published":{"date-parts":[[2025,10,31]]}}}