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For: Adalat S, Woolf AS, Johnstone KA, Wirsing A, Harries LW, Long DA, Hennekam RC, Ledermann SE, Rees L, van’t Hoff W. HNF1B mutations associate with hypomagnesemia and renal magnesium wasting. J Am Soc Nephrol. 2009;20:1123-1131. [PMID: 19389850 DOI: 10.1681/asn.2008060633] [Cited by in Crossref: 190] [Cited by in F6Publishing: 196] [Article Influence: 14.6] [Reference Citation Analysis]
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4 Schlingmann KP, de Baaij JH. The genetic spectrum of Gitelman(-like) syndromes. Current Opinion in Nephrology & Hypertension 2022;31:508-15. [DOI: 10.1097/mnh.0000000000000818] [Cited by in Crossref: 1] [Cited by in F6Publishing: 2] [Article Influence: 1.0] [Reference Citation Analysis]
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6 Tseng MH, Yang SS, Sung CC, Ding JJ, Hsu YJ, Chu SM, Lin SH. Novel CNNM2 Mutation Responsible for Autosomal-Dominant Hypomagnesemia With Seizure. Front Genet 2022;13:875013. [PMID: 35846113 DOI: 10.3389/fgene.2022.875013] [Reference Citation Analysis]
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11 Sinha R, Pradhan S, Banerjee S, Jahan A, Akhtar S, Pahari A, Raut S, Parakh P, Basu S, Srivastava P, Nayak S, Thenral SG, Ramprasad V, Ashton E, Bockenhauer D, Mandal K. Whole-exome sequencing and variant spectrum in children with suspected inherited renal tubular disorder: the East India Tubulopathy Gene Study. Pediatr Nephrol 2022. [PMID: 35006361 DOI: 10.1007/s00467-021-05388-y] [Cited by in Crossref: 3] [Cited by in F6Publishing: 3] [Article Influence: 3.0] [Reference Citation Analysis]
12 Marucci A, Rutigliano I, Fini G, Pezzilli S, Menzaghi C, Di Paola R, Trischitta V. Role of Actionable Genes in Pursuing a True Approach of Precision Medicine in Monogenic Diabetes. Genes (Basel) 2022;13:117. [PMID: 35052457 DOI: 10.3390/genes13010117] [Cited by in Crossref: 6] [Cited by in F6Publishing: 5] [Article Influence: 6.0] [Reference Citation Analysis]
13 Wolf MTF, Besse W, Bleyer AJ, Dahl NK. Genetic Diseases Associated with Tubulointerstitial Nephritis. Tubulointerstitial Nephritis 2022. [DOI: 10.1007/978-3-030-93438-5_11] [Reference Citation Analysis]
14 Devuyst O, Zennaro M, Vargas-poussou R, Satlin LM. Inherited Disorders of Sodium and Potassium Handling. Pediatric Nephrology 2022. [DOI: 10.1007/978-3-030-52719-8_108] [Reference Citation Analysis]
15 Konrad M, Schlingmann KP. Inherited Disorders of Renal Magnesium Handling. Pediatric Nephrology 2022. [DOI: 10.1007/978-3-030-52719-8_109] [Reference Citation Analysis]
16 Ng N, Mijares Zamuner M, Siddique N, Kim J, Burke M, Byrne MM. Genotype-phenotype correlations and response to glucose lowering therapy in subjects with HNF1β associated diabetes. Acta Diabetol 2022;59:83-93. [PMID: 34487217 DOI: 10.1007/s00592-021-01794-8] [Cited by in Crossref: 1] [Cited by in F6Publishing: 1] [Article Influence: 1.0] [Reference Citation Analysis]
17 Wolf MTF, Ariceta G. Autosomal Dominant Tubulointerstitial Kidney Disease. Pediatric Nephrology 2022. [DOI: 10.1007/978-3-030-52719-8_120] [Reference Citation Analysis]
18 Goknar N, Ekici Avci M, Uckardes D, Kelesoglu E, Tekkus Ermis K, Candan C. Hepatocyte Nuclear Factor 1 Beta Mutation-associated Newborn Onset of Glomerulocystic Kidney Disease: A Case Presentation. Medeni Med J 2021;36:352-5. [PMID: 34939403 DOI: 10.4274/MMJ.galenos.2021.02686] [Reference Citation Analysis]
19 Wan E, Iancu D, Ashton E, Siew K, Mohidin B, Sung C, Nagano C, Bockenhauer D, Lin S, Nozu K, Walsh SB. Diagnostic Strategies to Identify Patients with Genetic Salt-Losing Tubulopathies.. [DOI: 10.1101/2021.12.12.21267676] [Reference Citation Analysis]
20 Claverie-Martin F, Perdomo-Ramirez A, Garcia-Nieto V. Hereditary kidney diseases associated with hypomagnesemia. Kidney Res Clin Pract 2021. [PMID: 34784661 DOI: 10.23876/j.krcp.21.112] [Cited by in Crossref: 1] [Cited by in F6Publishing: 1] [Article Influence: 1.0] [Reference Citation Analysis]
21 Guo M, Xu Q, Yu X, Yang Q, Shao S. Association of Agenesis of the Dorsal Pancreas With HNF1B Heterozygote Mutation: A Case Report. Front Endocrinol (Lausanne) 2021;12:640006. [PMID: 34721285 DOI: 10.3389/fendo.2021.640006] [Reference Citation Analysis]
22 Nuñez-Gonzalez L, Carrera N, Garcia-Gonzalez MA. Molecular Basis, Diagnostic Challenges and Therapeutic Approaches of Bartter and Gitelman Syndromes: A Primer for Clinicians. Int J Mol Sci 2021;22:11414. [PMID: 34768847 DOI: 10.3390/ijms222111414] [Cited by in Crossref: 6] [Cited by in F6Publishing: 6] [Article Influence: 6.0] [Reference Citation Analysis]
23 Yoshida K, Mushimoto Y, Tanase-Nakao K, Akiba K, Ishii K, Urakami T, Sugihara S, Kikuchi T, Fukami M, Narumi S; Japanese Study Group of Insulin Therapy for Childhood and Adolescent Diabetes (JSGIT). A case report with functional characterization of a HNF1B mutation (p.Leu168Pro) causing MODY5. Clin Pediatr Endocrinol 2021;30:179-85. [PMID: 34629740 DOI: 10.1297/cpe.30.179] [Reference Citation Analysis]
24 Gaál Z, Szűcs Z, Kántor I, Luczay A, Tóth-Heyn P, Benn O, Felszeghy E, Karádi Z, Madar L, Balogh I. A Comprehensive Analysis of Hungarian MODY Patients-Part I: Gene Panel Sequencing Reveals Pathogenic Mutations in HNF1A, HNF1B, HNF4A, ABCC8 and INS Genes. Life (Basel) 2021;11:755. [PMID: 34440499 DOI: 10.3390/life11080755] [Cited by in Crossref: 2] [Cited by in F6Publishing: 2] [Article Influence: 2.0] [Reference Citation Analysis]
25 Kołbuc M, Bieniaś B, Habbig S, Kołek MF, Szczepańska M, Kiliś-Pstrusińska K, Wasilewska A, Adamczyk P, Motyka R, Tkaczyk M, Sikora P, Beck BB, Zaniew M. Hyperuricemia Is an Early and Relatively Common Feature in Children with HNF1B Nephropathy but Its Utility as a Predictor of the Disease Is Limited. J Clin Med 2021;10:3265. [PMID: 34362049 DOI: 10.3390/jcm10153265] [Cited by in Crossref: 3] [Cited by in F6Publishing: 3] [Article Influence: 3.0] [Reference Citation Analysis]
26 Ren B, Chen Y, Zhang Q, Chen S, Zhang S, Wang J, Zhang Y. De novo mutation in HNF-1β gene as a cause for Maturity-onset Diabetes of the Young type 5 with sustained hypomagnesemia. Int J Diabetes Dev Ctries 2021;41:354-357. [DOI: 10.1007/s13410-020-00904-6] [Reference Citation Analysis]
27 Bleyer AJ, Wolf MT, Kidd KO, Zivna M, Kmoch S. Autosomal dominant tubulointerstitial kidney disease: more than just HNF1β. Pediatr Nephrol 2021. [PMID: 34021396 DOI: 10.1007/s00467-021-05118-4] [Cited by in Crossref: 2] [Cited by in F6Publishing: 2] [Article Influence: 2.0] [Reference Citation Analysis]
28 Çubuk H, Yalçın Çapan Ö. A Review of Functional Characterization of Single Amino Acid Change Mutations in HNF Transcription Factors in MODY Pathogenesis. Protein J 2021;40:348-60. [PMID: 33950347 DOI: 10.1007/s10930-021-09991-8] [Cited by in Crossref: 4] [Cited by in F6Publishing: 4] [Article Influence: 4.0] [Reference Citation Analysis]
29 Niborski LL, Paces-Fessy M, Ricci P, Bourgeois A, Magalhães P, Kuzma-Kuzniarska M, Lesaulnier C, Reczko M, Declercq E, Zürbig P, Doucet A, Umbhauer M, Cereghini S. Hnf1b haploinsufficiency differentially affects developmental target genes in a new renal cysts and diabetes mouse model. Dis Model Mech 2021;14:dmm047498. [PMID: 33737325 DOI: 10.1242/dmm.047498] [Cited by in Crossref: 5] [Cited by in F6Publishing: 5] [Article Influence: 5.0] [Reference Citation Analysis]
30 Wolf MTF, Ariceta G. Autosomal Dominant Tubulointerstitial Kidney Disease. Pediatric Nephrology 2021. [DOI: 10.1007/978-3-642-27843-3_120-1] [Reference Citation Analysis]
31 Bonilla-ruvalcaba DM, Villegas-nicanor P, García-nieto VM, Tejera-carreño P, Luis-yanes MI. Mutaciones del gen factor nuclear del hepatocito 1 (HNF1) como causa de afectación renal, hepática y diabetes. Revista Mexicana de Pediatría 2021;88:108-111. [DOI: 10.35366/102191] [Reference Citation Analysis]
32 Devuyst O, Zennaro M, Vargas-poussou R, Satlin LM. Inherited Disorders of Sodium and Potassium Handling. Pediatric Nephrology 2021. [DOI: 10.1007/978-3-642-27843-3_108-1] [Reference Citation Analysis]
33 Konrad M, Schlingmann KP. Inherited Disorders of Renal Magnesium Handling. Pediatric Nephrology 2021. [DOI: 10.1007/978-3-642-27843-3_109-1] [Reference Citation Analysis]
34 Root AW, Levine MA. Disorders of Mineral Metabolism II. Abnormalities of Mineral Homeostasis in the Newborn, Infant, Child, and Adolescent. Sperling Pediatric Endocrinology 2021. [DOI: 10.1016/b978-0-323-62520-3.00020-8] [Cited by in Crossref: 1] [Cited by in F6Publishing: 1] [Article Influence: 1.0] [Reference Citation Analysis]
35 Bleyer AJ, Kmoch S. The Varied Clinical Presentation of Autosomal Dominant Tubulointerstitial Kidney Disease Due to HNF1β Mutations. Kidney Int Rep 2020;5:2133-5. [PMID: 33306044 DOI: 10.1016/j.ekir.2020.10.008] [Reference Citation Analysis]
36 Nuovo S, Fuiano L, Micalizzi A, Battini R, Bertini E, Borgatti R, Caridi G, D'Arrigo S, Fazzi E, Fischetto R, Ghiggeri GM, Giordano L, Leuzzi V, Romaniello R, Signorini S, Stringini G, Zanni G, Romani M, Valente EM, Emma F. Impaired urinary concentration ability is a sensitive predictor of renal disease progression in Joubert syndrome. Nephrol Dial Transplant 2020;35:1195-202. [PMID: 30403813 DOI: 10.1093/ndt/gfy333] [Cited by in Crossref: 9] [Cited by in F6Publishing: 9] [Article Influence: 4.5] [Reference Citation Analysis]
37 Schnoz C, Moser S, Kratschmar DV, Odermatt A, Loffing-Cueni D, Loffing J. Deletion of the transcription factor Prox-1 specifically in the renal distal convoluted tubule causes hypomagnesemia via reduced expression of TRPM6 and NCC. Pflugers Arch 2021;473:79-93. [PMID: 33200256 DOI: 10.1007/s00424-020-02491-1] [Cited by in Crossref: 5] [Cited by in F6Publishing: 4] [Article Influence: 2.5] [Reference Citation Analysis]
38 Maeoka Y, McCormick JA. NaCl cotransporter activity and Mg2+ handling by the distal convoluted tubule. Am J Physiol Renal Physiol 2020;319:F1043-53. [PMID: 33135481 DOI: 10.1152/ajprenal.00463.2020] [Cited by in Crossref: 7] [Cited by in F6Publishing: 7] [Article Influence: 3.5] [Reference Citation Analysis]
39 Izzi C, Dordoni C, Econimo L, Delbarba E, Grati FR, Martin E, Mazza C, Savoldi G, Rampoldi L, Alberici F, Scolari F. Variable Expressivity of HNF1B Nephropathy, From Renal Cysts and Diabetes to Medullary Sponge Kidney Through Tubulo-interstitial Kidney Disease. Kidney Int Rep 2020;5:2341-50. [PMID: 33305128 DOI: 10.1016/j.ekir.2020.09.042] [Cited by in Crossref: 8] [Cited by in F6Publishing: 6] [Article Influence: 4.0] [Reference Citation Analysis]
40 Mateus JC, Rivera C, O'Meara M, Valenzuela A, Lizcano F. Maturity-onset diabetes of the young type 5 a MULTISYSTEMIC disease: a CASE report of a novel mutation in the HNF1B gene and literature review. Clin Diabetes Endocrinol 2020;6:16. [PMID: 32864159 DOI: 10.1186/s40842-020-00103-6] [Cited by in Crossref: 9] [Cited by in F6Publishing: 11] [Article Influence: 4.5] [Reference Citation Analysis]
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43 Bártů M, Hojný J, Hájková N, Michálková R, Krkavcová E, Simon K, Frýba V, Stružinská I, Němejcová K, Dundr P. Expression, Epigenetic, and Genetic Changes of HNF1B in Colorectal Lesions: an Analysis of 145 Cases. Pathol Oncol Res 2020;26:2337-50. [PMID: 32488808 DOI: 10.1007/s12253-020-00830-2] [Cited by in Crossref: 7] [Cited by in F6Publishing: 7] [Article Influence: 3.5] [Reference Citation Analysis]
44 Kołbuc M, Leßmeier L, Salamon-Słowińska D, Małecka I, Pawlaczyk K, Walkowiak J, Wysocki J, Beck BB, Zaniew M. Hypomagnesemia is underestimated in children with HNF1B mutations. Pediatr Nephrol 2020;35:1877-86. [PMID: 32388583 DOI: 10.1007/s00467-020-04576-6] [Cited by in Crossref: 6] [Cited by in F6Publishing: 7] [Article Influence: 3.0] [Reference Citation Analysis]
45 Hojny J, Bartu M, Krkavcova E, Nemejcova K, Sevcik J, Cibula D, Fryba V, Plincelnerova L, Dundr P, Struzinska I. Identification of novel HNF1B mRNA splicing variants and their qualitative and semi-quantitative profile in selected healthy and tumour tissues. Sci Rep 2020;10:6958. [PMID: 32332782 DOI: 10.1038/s41598-020-63733-x] [Cited by in Crossref: 5] [Cited by in F6Publishing: 5] [Article Influence: 2.5] [Reference Citation Analysis]
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47 Westland R, Renkema KY, Knoers NVAM. Clinical Integration of Genome Diagnostics for Congenital Anomalies of the Kidney and Urinary Tract. Clin J Am Soc Nephrol 2020;16:128-37. [PMID: 32312792 DOI: 10.2215/CJN.14661119] [Cited by in Crossref: 18] [Cited by in F6Publishing: 21] [Article Influence: 9.0] [Reference Citation Analysis]
48 Ray EC, Boyd-Shiwarski CR, Liu P, Novacic D, Cassiman D. SGLT2 Inhibitors for Treatment of Refractory Hypomagnesemia: A Case Report of 3 Patients. Kidney Med 2020;2:359-64. [PMID: 32734255 DOI: 10.1016/j.xkme.2020.01.010] [Cited by in Crossref: 15] [Cited by in F6Publishing: 15] [Article Influence: 7.5] [Reference Citation Analysis]
49 Downie ML, Lopez Garcia SC, Kleta R, Bockenhauer D. Inherited Tubulopathies of the Kidney: Insights from Genetics. Clin J Am Soc Nephrol 2021;16:620-30. [PMID: 32238367 DOI: 10.2215/CJN.14481119] [Cited by in Crossref: 31] [Cited by in F6Publishing: 31] [Article Influence: 15.5] [Reference Citation Analysis]
50 Shao A, Chan SC, Igarashi P. Role of transcription factor hepatocyte nuclear factor-1β in polycystic kidney disease. Cell Signal 2020;71:109568. [PMID: 32068086 DOI: 10.1016/j.cellsig.2020.109568] [Cited by in Crossref: 15] [Cited by in F6Publishing: 16] [Article Influence: 7.5] [Reference Citation Analysis]
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53 Moreno V. Utility of the “omics” in kidney disease: Methods of analysis, sampling considerations, and technical approaches in renal biomarkers. Kidney Biomarkers 2020. [DOI: 10.1016/b978-0-12-815923-1.00002-x] [Reference Citation Analysis]
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55 Li HJ, Groden C, Hoenig MP, Ray EC, Ferreira CR, Gahl W, Novacic D. Case report: extreme coronary calcifications and hypomagnesemia in a patient with a 17q12 deletion involving HNF1B. BMC Nephrol 2019;20:353. [PMID: 31500578 DOI: 10.1186/s12882-019-1533-5] [Cited by in Crossref: 5] [Cited by in F6Publishing: 5] [Article Influence: 1.7] [Reference Citation Analysis]
56 Adalat S, Hayes WN, Bryant WA, Booth J, Woolf AS, Kleta R, Subtil S, Clissold R, Colclough K, Ellard S, Bockenhauer D. HNF1B Mutations Are Associated With a Gitelman-like Tubulopathy That Develops During Childhood. Kidney Int Rep 2019;4:1304-11. [PMID: 31517149 DOI: 10.1016/j.ekir.2019.05.019] [Cited by in Crossref: 29] [Cited by in F6Publishing: 29] [Article Influence: 9.7] [Reference Citation Analysis]
57 Nagano C, Morisada N, Nozu K, Kamei K, Tanaka R, Kanda S, Shiona S, Araki Y, Ohara S, Matsumura C, Kasahara K, Mori Y, Seo A, Miura K, Washiyama M, Sugimoto K, Harada R, Tazoe S, Kourakata H, Enseki M, Aotani D, Yamada T, Sakakibara N, Yamamura T, Minamikawa S, Ishikura K, Ito S, Hattori M, Iijima K. Clinical characteristics of HNF1B-related disorders in a Japanese population.Clin Exp Nephrol. 2019;23:1119-1129. [PMID: 31131422 DOI: 10.1007/s10157-019-01747-0] [Cited by in Crossref: 20] [Cited by in F6Publishing: 15] [Article Influence: 6.7] [Reference Citation Analysis]
58 Little MH, Quinlan C. Advances in our understanding of genetic kidney disease using kidney organoids. Pediatr Nephrol 2020;35:915-26. [PMID: 31065797 DOI: 10.1007/s00467-019-04259-x] [Cited by in Crossref: 7] [Cited by in F6Publishing: 8] [Article Influence: 2.3] [Reference Citation Analysis]
59 Woolf AS, Lopes FM, Ranjzad P, Roberts NA. Congenital Disorders of the Human Urinary Tract: Recent Insights From Genetic and Molecular Studies. Front Pediatr 2019;7:136. [PMID: 31032239 DOI: 10.3389/fped.2019.00136] [Cited by in Crossref: 20] [Cited by in F6Publishing: 21] [Article Influence: 6.7] [Reference Citation Analysis]
60 Zhang K, Wang M, Zhao Y, Wang W. Taiji: System-level identification of key transcription factors reveals transcriptional waves in mouse embryonic development. Sci Adv 2019;5:eaav3262. [PMID: 30944857 DOI: 10.1126/sciadv.aav3262] [Cited by in Crossref: 28] [Cited by in F6Publishing: 29] [Article Influence: 9.3] [Reference Citation Analysis]
61 Kostov K. Effects of Magnesium Deficiency on Mechanisms of Insulin Resistance in Type 2 Diabetes: Focusing on the Processes of Insulin Secretion and Signaling. Int J Mol Sci 2019;20:E1351. [PMID: 30889804 DOI: 10.3390/ijms20061351] [Cited by in Crossref: 82] [Cited by in F6Publishing: 86] [Article Influence: 27.3] [Reference Citation Analysis]
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63 Papizh SV, Piruzieva OR. THE NUCLEAR FACTOR OF HEPATOCYTES 1β (HNF1β)–ASSOCIATED DISEASE. CLINIC, DIAGNOSTIC, TREATMENT (LITERATURE REVIEW AND CLINICAL OBSERVATION). Nefrologiâ (St -Peterbg ) 2019;23:100-108. [DOI: 10.24884/1561-6274-2019-23-2-100-108] [Reference Citation Analysis]
64 Pinon M, Carboni M, Colavito D, Cisarò F, Peruzzi L, Pizzol A, Calosso G, David E, Calvo PL. Not only Alagille syndrome. Syndromic paucity of interlobular bile ducts secondary to HNF1β deficiency: a case report and literature review. Ital J Pediatr 2019;45:27. [PMID: 30791938 DOI: 10.1186/s13052-019-0617-y] [Cited by in Crossref: 6] [Cited by in F6Publishing: 7] [Article Influence: 2.0] [Reference Citation Analysis]
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