Journal Watch
Hereditary glomerulopathies
Current understandings in treating children with steroid-resistant nephrotic syndrome.
Author(s): Lee JM, Kronbichler A, Shin JI, Oh J Source: Pediatr Nephrol 2020 Feb 21; Publication date: 2020-02-21
SGLT2 inhibitors - a potential treatment for Alport syndrome.
Author(s): Mabillard H, Sayer JA Source: Clin Sci (Lond) 2020 Feb 28;134(4):379-388 Publication date: 2020-02-28
CFHR Gene Variations Provide Insights in the Pathogenesis of the Kidney Diseases Atypical Hemolytic Uremic Syndrome and C3 Glomerulopathy.
Author(s): Zipfel PF, Wiech T, Stea ED, Skerka C Source: J Am Soc Nephrol 2020 Feb;31(2):241-256 Publication date: 2020-02
Molecular mechanisms determining severity in patients with Pierson syndrome.
Author(s): Minamikawa S, Miwa S, Inagaki T, Nishiyama K, Kaito H, Ninchoji T, Yamamura T, Nagano C, Sakakibara N, Ishimori S, Hara S, Yoshikawa N, Hirano D, Harada R, Hamada R, Matsunoshita N, Nagata M, Shima Y, Nakanishi K, Nagase H, Takeda H, Morisada N, Iijima K, Nozu K Source: J Hum Genet 2020 Apr;65(4):355-362 Publication date: 2020-04
Comprehensive genetic diagnosis of Japanese patients with severe proteinuria.
Author(s): Nagano C, Yamamura T, Horinouchi T, Aoto Y, Ishiko S, Sakakibara N, Shima Y, Nakanishi K, Nagase H, Iijima K, Nozu K Source: Sci Rep 2020 Jan 14;10(1):270 Publication date: 2020-01-14
Centromere protein I (CENPI) is a candidate gene for X-linked steroid sensitive nephrotic syndrome.
Author(s): Basit S, Al-Edressi HM, Sairafi MH, Hashmi JA, Alharby E, Safar R, Ramzan K Source: J Nephrol 2020 Jan 7; Publication date: 2020-01-7
Detection of Cryptic Mosaicism in X-linked Alport Syndrome Prompts to Reevaluate Living-donor Kidney Transplantation.
Author(s): Pinto AM, Daga S, Fallerini C, Bruttini M, Baldassarri M, Giliberti A, Frullanti E, Guarnieri A, Garosi G, Renieri A Source: Transplantation 2019 Dec 31; Publication date: 2019-12-31
Modification of an aggressive model of Alport Syndrome reveals early differences in disease pathogenesis due to genetic background.
Author(s): Falcone S, Wisby L, Nicol T, Blease A, Starbuck B, Parker A, Sanderson J, Brown SDM, Scudamore CL, Pusey CD, Tam FWK, Potter PK Source: Sci Rep 2019 Dec 31;9(1):20398 Publication date: 2019-12-31
FSGS-Causing INF2 Mutation Impairs Cleaved INF2 N-Fragment Functions in Podocytes.
Author(s): Subramanian B, Chun J, Perez-Gill C, Yan P, Stillman IE, Higgs HN, Alper SL, Schlöndorff JS, Pollak MR Source: J Am Soc Nephrol 2020 Jan 10; Publication date: 2020-01-10
New frontiers to cure Alport syndrome: COL4A3 and COL4A5 gene editing in podocyte-lineage cells.
Author(s): Daga S, Donati F, Capitani K, Croci S, Tita R, Giliberti A, Valentino F, Benetti E, Fallerini C, Niccheri F, Baldassarri M, Mencarelli MA, Frullanti E, Furini S, Conticello SG, Renieri A, Pinto AM Source: Eur J Hum Genet 2019 Nov 21; Publication date: 2019-11-21
Reassessing the pathogenicity of c.2858G>T(p.(G953V)) in COL4A5 Gene: report of 19 Chinese families.
Author(s): Zhang Y, Ding J, Wang S, Zhang H, Zhong X, Liu X, Xu K, Wang F Source: Eur J Hum Genet 2019 Oct 1; Publication date: 2019-10-1
Defects in t6A tRNA modification due to GON7 and YRDC mutations lead to Galloway-Mowat syndrome.
Author(s): Arrondel C, Missoury S, Snoek R, Patat J, Menara G, Collinet B, Liger D, Durand D, Gribouval O, Boyer O, Buscara L, Martin G, Machuca E, Nevo F, Lescop E, Braun DA, Boschat AC, Sanquer S, Guerrera IC, Revy P, Parisot M, Masson C, Boddaert N, Charbit M, Decramer S, Novo R, Macher MA, Ranchin B, Bacchetta J, Laurent A, Collardeau-Frachon S, van Eerde AM, Hildebrandt F, Magen D, Antignac C, van Tilbeurgh H, Mollet G Source: Nat Commun 2019 Sep 3;10(1):3967 Publication date: 2019-09-3
Congenital Nephrotic Syndrome in India in the Current Era: A Multicenter Case Series.
Author(s): Sinha R, Vasudevan A, Agarwal I, Sethi SK, Saha A, Pradhan S, Ekambaram S, Thaker N, Matnani M, Banerjee S, Sharma J, Singhal J, Ashraf S, Mandal K Source: Nephron 2019 Oct 25;:1-9 Publication date: 2019-10-25
Renal Pathological Findings in Action Myoclonus-Renal Failure Syndrome.
Author(s): Desbuissons G, Brocheriou I, Touchard G, Goujon JM, Méneret A, Isnard-Bagnis C Source: Nephron 2019 Sep 12;:1-4 Publication date: 2019-09-12
Targeted broad-based genetic testing by next-generation sequencing informs diagnosis and facilitates management in patients with kidney diseases.
Author(s): Mansilla MA, Sompallae RR, Nishimura CJ, Kwitek AE, Kimble MJ, Freese ME, Campbell CA, Smith RJ, Thomas CP Source: Nephrol Dial Transplant 2019 Nov 18; Publication date: 2019-11-18
Determination of the pathogenicity of known COL4A5 intronic variants by in vitro splicing assay.
Author(s): Horinouchi T, Nozu K, Yamamura T, Minamikawa S, Nagano C, Sakakibara N, Nakanishi K, Shima Y, Morisada N, Ishiko S, Aoto Y, Nagase H, Takeda H, Rossanti R, Kaito H, Matsuo M, Iijima K Source: Sci Rep 2019 Sep 3;9(1):12696 Publication date: 2019-09-3
Retrospective genetic analysis illustrates the spectrum of autosomal Alport syndrome in a case of living-related donor kidney transplantation.
Author(s): Petzold F, Bachmann A, Bergmann C, Helmchen U, Halbritter J Source: BMC Nephrol 2019 Sep 2;20(1):340 Publication date: 2019-09-2
Mutations in KIRREL1, a slit diaphragm component, cause steroid-resistant nephrotic syndrome.
Author(s): Solanki AK, Widmeier E, Arif E, Sharma S, Daga A, Srivastava P, Kwon SH, Hugo H, Nakayama M, Mann N, Majmundar AJ, Tan W, Gee HY, Sadowski CE, Rinat C, Becker-Cohen R, Bergmann C, Rosen S, Somers M, Shril S, Huber TB, Mane S, Hildebrandt F, Nihalani D Source: Kidney Int 2019 Jul 10; Publication date: 2019-07-10
A Nonsense Mutation in COL4A4 Gene Causing Isolated Hematuria in Either Heterozygous or Homozygous State.
Author(s): Yang C, Song Y, Chen Z, Yuan X, Chen X, Ding G, Guan Y, McGrath M, Song C, Tong Y, Wang H Source: Front Genet 2019;10:628 Publication date: 2019
A catalog of genetic loci associated with kidney function from analyses of a million individuals.
Author(s): Wuttke M, Li Y, Li M, Sieber KB, Feitosa MF, Gorski M, Tin A, Wang L, Chu AY, Hoppmann A, Kirsten H, Giri A, Chai JF, Sveinbjornsson G, Tayo BO, Nutile T, Fuchsberger C, Marten J, Cocca M, Ghasemi S, Xu Y, Horn K, Noce D, van der Most PJ, Sedaghat S, Yu Z, Akiyama M, Afaq S, Ahluwalia TS, Almgren P, Amin N, Ärnlöv J, Bakker SJL, Bansal N, Baptista D, Bergmann S, Biggs ML, Biino G, Boehnke M, Boerwinkle E, Boissel M, Bottinger EP, Boutin TS, Brenner H, Brumat M, Burkhardt R, Butterworth AS, Campana E, Campbell A, Campbell H, Canouil M, Carroll RJ, Catamo E, Chambers JC, Chee ML, Chee ML, Chen X, Cheng CY, Cheng Y, Christensen K, Cifkova R, Ciullo M, Concas MP, Cook JP, Coresh J, Corre T, Sala CF, Cusi D, Danesh J, Daw EW, de Borst MH, De Grandi A, de Mutsert R, de Vries APJ, Degenhardt F, Delgado G, Demirkan A, Di Angelantonio E, Dittrich K, Divers J, Dorajoo R, Eckardt KU, Ehret G, Elliott P, Endlich K, Evans MK, Felix JF, Foo VHX, Franco OH, Franke A, Freedman BI, Freitag-Wolf S, Friedlander Y, Froguel P, Gansevoort RT, Gao H, Gasparini P, Gaziano JM, Giedraitis V, Gieger C, Girotto G, Giulianini F, Gögele M, Gordon SD, Gudbjartsson DF, Gudnason V, Haller T, Hamet P, Harris TB, Hartman CA, Hayward C, Hellwege JN, Heng CK, Hicks AA, Hofer E, Huang W, Hutri-Kähönen N, Hwang SJ, Ikram MA, Indridason OS, Ingelsson E, Ising M, Jaddoe VWV, Jakobsdottir J, Jonas JB, Joshi PK, Josyula NS, Jung B, Kähönen M, Kamatani Y, Kammerer CM, Kanai M, Kastarinen M, Kerr SM, Khor CC, Kiess W, Kleber ME, Koenig W, Kooner JS, Körner A, Kovacs P, Kraja AT, Krajcoviechova A, Kramer H, Krämer BK, Kronenberg F, Kubo M, Kühnel B, Kuokkanen M, Kuusisto J, La Bianca M, Laakso M, Lange LA, Langefeld CD, Lee JJ, Lehne B, Lehtimäki T, Lieb W, Lim SC, Lind L, Lindgren CM, Liu J, Liu J, Loeffler M, Loos RJF, Lucae S, Lukas MA, Lyytikäinen LP, Mägi R, Magnusson PKE, Mahajan A, Martin NG, Martins J, März W, Mascalzoni D, Matsuda K, Meisinger C, Meitinger T, Melander O, Metspalu A, Mikaelsdottir EK, Milaneschi Y, Miliku K, Mishra PP, Mohlke KL, Mononen N, Montgomery GW, Mook-Kanamori DO, Mychaleckyj JC, Nadkarni GN, Nalls MA, Nauck M, Nikus K, Ning B, Nolte IM, Noordam R, O'Connell J, O'Donoghue ML, Olafsson I, Oldehinkel AJ, Orho-Melander M, Ouwehand WH, Padmanabhan S, Palmer ND, Palsson R, Penninx BWJH, Perls T, Perola M, Pirastu M, Pirastu N, Pistis G, Podgornaia AI, Polasek O, Ponte B, Porteous DJ, Poulain T, Pramstaller PP, Preuss MH, Prins BP, Province MA, Rabelink TJ, Raffield LM, Raitakari OT, Reilly DF, Rettig R, Rheinberger M, Rice KM, Ridker PM, Rivadeneira F, Rizzi F, Roberts DJ, Robino A, Rossing P, Rudan I, Rueedi R, Ruggiero D, Ryan KA, Saba Y, Sabanayagam C, Salomaa V, Salvi E, Saum KU, Schmidt H, Schmidt R, Schöttker B, Schulz CA, Schupf N, Shaffer CM, Shi Y, Smith AV, Smith BH, Soranzo N, Spracklen CN, Strauch K, Stringham HM, Stumvoll M, Svensson PO, Szymczak S, Tai ES, Tajuddin SM, Tan NYQ, Taylor KD, Teren A, Tham YC, Thiery J, Thio CHL, Thomsen H, Thorleifsson G, Toniolo D, Tönjes A, Tremblay J, Tzoulaki I, Uitterlinden AG, Vaccargiu S, van Dam RM, van der Harst P, van Duijn CM, Velez Edward DR, Verweij N, Vogelezang S, Völker U, Vollenweider P, Waeber G, Waldenberger M, Wallentin L, Wang YX, Wang C, Waterworth DM, Bin Wei W, White H, Whitfield JB, Wild SH, Wilson JF, Wojczynski MK, Wong C, Wong TY, Xu L, Yang Q, Yasuda M, Yerges-Armstrong LM, Zhang W, Zonderman AB, Rotter JI, Bochud M, Psaty BM, Vitart V, Wilson JG, Dehghan A, Parsa A, Chasman DI, Ho K, Morris AP, Devuyst O, Akilesh S, Pendergrass SA, Sim X, Böger CA, Okada Y, Edwards TL, Snieder H, Stefansson K, Hung AM, Heid IM, Scholz M, Teumer A, Köttgen A, Pattaro C Source: Nat Genet 2019 Jun;51(6):957-972 Publication date: 2019-06
Early or Late Transplantation in Congenital Nephrotic Syndrome: Which is Effective for Optimal Growth?
Author(s): Aksoy GK, Koyun M, Çomak E, Akman S Source: Transplant Proc 2019 Aug 7; Publication date: 2019-08-7
Contributions of Rare Gene Variants to Familial and Sporadic FSGS.
Author(s): Wang M, Chun J, Genovese G, Knob AU, Benjamin A, Wilkins MS, Friedman DJ, Appel GB, Lifton RP, Mane S, Pollak MR Source: J Am Soc Nephrol 2019 Jul 15; Publication date: 2019-07-15
Contribution of Coiled-Coil Assembly to Ca2+/Calmodulin-Dependent Inactivation of TRPC6 Channel and its Impacts on FSGS-Associated Phenotypes.
Author(s): Polat OK, Uno M, Maruyama T, Tran HN, Imamura K, Wong CF, Sakaguchi R, Ariyoshi M, Itsuki K, Ichikawa J, Morii T, Shirakawa M, Inoue R, Asanuma K, Reiser J, Tochio H, Mori Y, Mori MX Source: J Am Soc Nephrol 2019 Jul 2; Publication date: 2019-07-2
Variations of type IV collagen-encoding genes in patients with histological diagnosis of focal segmental glomerulosclerosis.
Author(s): Demir E, Caliskan Y Source: Pediatr Nephrol 2019 Jun 28; Publication date: 2019-06-28
Novel homozygous OSGEP gene pathogenic variants in two unrelated patients with Galloway-Mowat syndrome: case report and review of the literature.
Author(s): Domingo-Gallego A, Furlano M, Pybus M, Barraca D, Martínez AB, Mora Muñoz E, Torra R, Ars E Source: BMC Nephrol 2019 Apr 11;20(1):126 Publication date: 2019-04-11
Dominant PAX2 mutations may cause steroid-resistant nephrotic syndrome and FSGS in children.
Author(s): Vivante A, Chacham OS, Shril S, Schreiber R, Mane SM, Pode-Shakked B, Soliman NA, Koneth I, Schiffer M, Anikster Y, Hildebrandt F Source: Pediatr Nephrol 2019 Apr 17; Publication date: 2019-04-17
A comprehensive analysis of NPHS1 gene mutations in patients with sporadic focal segmental glomerulosclerosis.
Author(s): Zhuo L, Huang L, Yang Z, Li G, Wang L Source: BMC Med Genet 2019 Jun 19;20(1):111 Publication date: 2019-06-19
New therapeutic options for Alport syndrome.
Author(s): Torra R, Furlano M Source: Nephrol Dial Transplant 2019 Jun 13; Publication date: 2019-06-13
Novel parietal epithelial cell subpopulations contribute to focal segmental glomerulosclerosis and glomerular tip lesions.
Author(s): Kuppe C, Leuchtle K, Wagner A, Kabgani N, Saritas T, Puelles VG, Smeets B, Hakroush S, van der Vlag J, Boor P, Schiffer M, Gröne HJ, Fogo A, Floege J, Moeller MJ Source: Kidney Int 2019 Feb 27; Publication date: 2019-02-27
Disruption of MAGI2-RapGEF2-Rap1 signaling contributes to podocyte dysfunction in congenital nephrotic syndrome caused by mutations in MAGI2.
Author(s): Zhu B, Cao A, Li J, Young J, Wong J, Ashraf S, Bierzynska A, Menon MC, Hou S, Sawyers C, Campbell KN, Saleem MA, He JC, Hildebrandt F, D'Agati VD, Peng W, Kaufman L Source: Kidney Int 2019 Mar 28; Publication date: 2019-03-28
Importance of Genetic Diagnostics in Adult-Onset Focal Segmental Glomerulosclerosis.
Author(s): Snoek R, Nguyen TQ, van der Zwaag B, van Zuilen AD, Kruis HME, van Gils-Verrij LA, Goldschmeding R, Knoers NVAM, Rookmaaker MB, van Eerde AM Source: Nephron 2019 May 16;:1-8 Publication date: 2019-05-16
Exome-Based Rare-Variant Analyses in CKD.
Author(s): Cameron-Christie S, Wolock CJ, Groopman E, Petrovski S, Kamalakaran S, Povysil G, Vitsios D, Zhang M, Fleckner J, March RE, Gelfman S, Marasa M, Li Y, Sanna-Cherchi S, Kiryluk K, Allen AS, Fellström BC, Haefliger C, Platt A, Goldstein DB, Gharavi AG Source: J Am Soc Nephrol 2019 May 13; Publication date: 2019-05-13
The importance of clinician, patient and researcher collaborations in Alport syndrome.
Author(s): Rheault MN, Savige J, Randles MJ, Weinstock A, Stepney M, Turner AN, Parziale G, Gross O, Flinter FA, Miner JH, Lagas S, Gear S, Lennon R Source: Pediatr Nephrol 2019 May 1; Publication date: 2019-05-1
Advances in our understanding of genetic kidney disease using kidney organoids.
Author(s): Little MH, Quinlan C Source: Pediatr Nephrol 2019 May 7; Publication date: 2019-05-7
Inherited glomerular diseases in the gilded age of genomic advancements.
Author(s): Gulati A, Dahl N, Tufro A Source: Pediatr Nephrol 2019 May 3; Publication date: 2019-05-3
Genetics of Nephrotic Syndrome Presenting in Childhood: Core Curriculum 2019.
Author(s): Watanabe A, Feltran LS, Sampson MG Source: Am J Kidney Dis 2019 Apr 4; Publication date: 2019-04-4
Mutations in NUP160 Are Implicated in Steroid-Resistant Nephrotic Syndrome.
Author(s): Zhao F, Zhu JY, Richman A, Fu Y, Huang W, Chen N, Pan X, Yi C, Ding X, Wang S, Wang P, Nie X, Huang J, Yang Y, Yu Z, Han Z Source: J Am Soc Nephrol 2019 Mar 25; Publication date: 2019-03-25
Cardiovascular disease risk among children with focal segmental glomerulosclerosis: a report from the chronic kidney disease in children study.
Author(s): Sethna CB, Ng DK, Jiang S, Saland J, Warady BA, Furth S, Meyers KE Source: Pediatr Nephrol 2019 Mar 22; Publication date: 2019-03-22
Genetics of Childhood Steroid Sensitive Nephrotic Syndrome: An Update.
Author(s): Lane BM, Cason R, Esezobor CI, Gbadegesin RA Source: Front Pediatr 2019;7:8 Publication date: 2019
NUP Nephropathy: When Defective Pores Cause Leaky Glomeruli.
Author(s): Lipska-Ziętkiewicz BS, Schaefer F Source: Am J Kidney Dis 2019 Mar 12; Publication date: 2019-03-12
Monogenic causes of chronic kidney disease in adults.
Author(s): Connaughton DM, Kennedy C, Shril S, Mann N, Murray SL, Williams PA, Conlon E, Nakayama M, van der Ven AT, Ityel H, Kause F, Kolvenbach CM, Dai R, Vivante A, Braun DA, Schneider R, Kitzler TM, Moloney B, Moran CP, Smyth JS, Kennedy A, Benson K, Stapleton C, Denton M, Magee C, O'Seaghdha CM, Plant WD, Griffin MD, Awan A, Sweeney C, Mane SM, Lifton RP, Griffin B, Leavey S, Casserly L, de Freitas DG, Holian J, Dorman A, Doyle B, Lavin PJ, Little MA, Conlon PJ, Hildebrandt F Source: Kidney Int 2019 Feb 12; Publication date: 2019-02-12
Treatment with 2,4-Dihydroxybenzoic Acid Prevents FSGS Progression and Renal Fibrosis in Podocyte-Specific Coq6 Knockout Mice.
Author(s): Widmeier E, Airik M, Hugo H, Schapiro D, Wedel J, Ghosh CC, Nakayama M, Schneider R, Awad AM, Nag A, Cho J, Schueler M, Clarke CF, Airik R, Hildebrandt F Source: J Am Soc Nephrol 2019 Feb 8; Publication date: 2019-02-8
C3 glomerulopathy - understanding a rare complement-driven renal disease.
Author(s): Smith RJH, Appel GB, Blom AM, Cook HT, D'Agati VD, Fakhouri F, Fremeaux-Bacchi V, Józsi M, Kavanagh D, Lambris JD, Noris M, Pickering MC, Remuzzi G, de Córdoba SR, Sethi S, Van der Vlag J, Zipfel PF, Nester CM Source: Nat Rev Nephrol 2019 Jan 28; Publication date: 2019-01-28
TBC1D8B Loss-of-Function Mutations Lead to X-Linked Nephrotic Syndrome via Defective Trafficking Pathways.
Author(s): Dorval G, Kuzmuk V, Gribouval O, Welsh GI, Bierzynska A, Schmitt A, Miserey-Lenkei S, Koziell A, Haq S, Benmerah A, Mollet G, Boyer O, Saleem MA, Antignac C Source: Am J Hum Genet 2019 Jan 6; Publication date: 2019-01-6
Integration of Genetic Testing and Pathology for the Diagnosis of Adults with FSGS.
Author(s): Yao T, Udwan K, John R, Rana A, Haghighi A, Xu L, Hack S, Reich HN, Hladunewich MA, Cattran DC, Paterson AD, Pei Y, Barua M Source: Clin J Am Soc Nephrol 2019 Jan 15; Publication date: 2019-01-15
Genetic studies of focal segmental glomerulosclerosis: a waste of scientific time?
Author(s): Howie AJ Source: Pediatr Nephrol 2018 Dec 27; Publication date: 2018-12-27
Diagnostic Utility of Exome Sequencing for Kidney Disease.
Author(s): Groopman EE, Marasa M, Cameron-Christie S, Petrovski S, Aggarwal VS, Milo-Rasouly H, Li Y, Zhang J, Nestor J, Krithivasan P, Lam WY, Mitrotti A, Piva S, Kil BH, Chatterjee D, Reingold R, Bradbury D, DiVecchia M, Snyder H, Mu X, Mehl K, Balderes O, Fasel DA, Weng C, Radhakrishnan J, Canetta P, Appel GB, Bomback AS, Ahn W, Uy NS, Alam S, Cohen DJ, Crew RJ, Dube GK, Rao MK, Kamalakaran S, Copeland B, Ren Z, Bridgers J, Malone CD, Mebane CM, Dagaonkar N, Fellström BC, Haefliger C, Mohan S, Sanna-Cherchi S, Kiryluk K, Fleckner J, March R, Platt A, Goldstein DB, Gharavi AG Source: N Engl J Med 2018 Dec 26; Publication date: 2018-12-26
Hydroxypropyl-β-cyclodextrin protects from kidney disease in experimental Alport syndrome and focal segmental glomerulosclerosis.
Author(s): Mitrofanova A, Molina J, Varona Santos J, Guzman J, Morales XA, Ducasa GM, Bryn J, Sloan A, Volosenco I, Kim JJ, Ge M, Mallela SK, Kretzler M, Eddy S, Martini S, Wahl P, Pastori S, Mendez AJ, Burke GW, Merscher S, Fornoni A Source: Kidney Int 2018 Oct 6; Publication date: 2018-10-6
The mutation-dependent pathogenicity of NPHS2 p.R229Q: A guide for clinical assessment.
Author(s): Mikó Á, Menyhárd DK, Kaposi A, Antignac C, Tory K Source: Hum Mutat 2018 Sep 27; Publication date: 2018-09-27
Nephrotic Syndrome With Mutations in NPHS2: The Role of R229Q and Implications for Genetic Counseling.
Author(s): Rood IM, Deegens JKJ, Lugtenberg D, Bongers EMHF, Wetzels JFM Source: Am J Kidney Dis 2018 Sep 18; Publication date: 2018-09-18
JAK-STAT signaling is activated in the kidney and peripheral blood cells of patients with focal segmental glomerulosclerosis.
Author(s): Tao J, Mariani L, Eddy S, Maecker H, Kambham N, Mehta K, Hartman J, Wang W, Kretzler M, Lafayette RA Source: Kidney Int 2018 Aug 6; Publication date: 2018-08-6
Expert consensus guidelines for the genetic diagnosis of Alport syndrome.
Author(s): Savige J, Ariani F, Mari F, Bruttini M, Renieri A, Gross O, Deltas C, Flinter F, Ding J, Gale DP, Nagel M, Yau M, Shagam L, Torra R, Ars E, Hoefele J, Garosi G, Storey H Source: Pediatr Nephrol 2018 Jul 9; Publication date: 2018-07-9
Could the interaction between LMX1B and PAX2 influence the severity of renal symptoms?
Author(s): Negrisolo S, Carraro A, Fregonese G, Benetti E, Schaefer F, Alberti M, Melchionda S, Fischetto R, Giordano M, Murer L Source: Eur J Hum Genet 2018 Jul 4; Publication date: 2018-07-4
APOL1 risk genotype in European steroid-resistant nephrotic syndrome and/or focal segmental glomerulosclerosis patients of different African ancestries.
Author(s): Gribouval O, Boyer O, Knebelmann B, Karras A, Dantal J, Fourrage C, Alibeu O, Hogan J, Dossier C, Tête MJ, Antignac C, Servais A Source: Nephrol Dial Transplant 2018 Jul 9; Publication date: 2018-07-9
Detection of Splicing Abnormalities and Genotype-Phenotype Correlation in X-linked Alport Syndrome.
Author(s): Horinouchi T, Nozu K, Yamamura T, Minamikawa S, Omori T, Nakanishi K, Fujimura J, Ashida A, Kitamura M, Kawano M, Shimabukuro W, Kitabayashi C, Imafuku A, Tamagaki K, Kamei K, Okamoto K, Fujinaga S, Oka M, Igarashi T, Miyazono A, Sawanobori E, Fujimaru R, Nakanishi K, Shima Y, Matsuo M, Ye MJ, Nozu Y, Morisada N, Kaito H, Iijima K Source: J Am Soc Nephrol 2018 Jun 29; Publication date: 2018-06-29
Urinary epidermal growth factor as a prognostic marker for the progression of Alport syndrome in children.
Author(s): Li B, Zhang Y, Wang F, Nair V, Ding F, Xiao H, Yao Y, Kretzler M, Ju W, Ding J Source: Pediatr Nephrol 2018 Jun 11; Publication date: 2018-06-11
Heterozygous COL4A3 Variants in Histologically Diagnosed Focal Segmental Glomerulosclerosis.
Author(s): Braunisch MC, Büttner-Herold M, Günthner R, Satanovskij R, Riedhammer KM, Herr PM, Klein HG, Wahl D, Küchle C, Renders L, Heemann U, Schmaderer C, Hoefele J Source: Front Pediatr 2018;6:171 Publication date: 2018
Decline in Kidney Function among Apparently Healthy Young Adults at Risk of Mesoamerican Nephropathy.
Author(s): Gonzalez-Quiroz M, Smpokou ET, Silverwood RJ, Camacho A, Faber D, Garcia BR, Oomatia A, Hill M, Glaser J, Le Blond J, Wesseling C, Aragon A, Smeeth L, Pearce N, Nitsch D, Caplin B Source: J Am Soc Nephrol 2018 Jun 15; Publication date: 2018-06-15
The renal manifestations of type 4 familial partial lipodystrophy: a case report and review of literature.
Author(s): Chen RX, Zhang L, Ye W, Wen YB, Si N, Li H, Li MX, Li XM, Zheng K Source: BMC Nephrol 2018 May 10;19(1):111 Publication date: 2018-05-10
COL4A5 and LAMA5 variants co-inherited in familial hematuria: digenic inheritance or genetic modifier effect?
Author(s): Voskarides K, Papagregoriou G, Hadjipanagi D, Petrou I, Savva I, Elia A, Athanasiou Y, Pastelli A, Kkolou M, Hadjigavriel M, Stavrou C, Pierides A, Deltas C Source: BMC Nephrol 2018 May 16;19(1):114 Publication date: 2018-05-16
Mutations in six nephrosis genes delineate a pathogenic pathway amenable to treatment.
Author(s): Ashraf S, Kudo H, Rao J, Kikuchi A, Widmeier E, Lawson JA, Tan W, Hermle T, Warejko JK, Shril S, Airik M, Jobst-Schwan T, Lovric S, Braun DA, Gee HY, Schapiro D, Majmundar AJ, Sadowski CE, Pabst WL, Daga A, van der Ven AT, Schmidt JM, Low BC, Gupta AB, Tripathi BK, Wong J, Campbell K, Metcalfe K, Schanze D, Niihori T, Kaito H, Nozu K, Tsukaguchi H, Tanaka R, Hamahira K, Kobayashi Y, Takizawa T, Funayama R, Nakayama K, Aoki Y, Kumagai N, Iijima K, Fehrenbach H, Kari JA, El Desoky S, Jalalah S, Bogdanovic R, Stajić N, Zappel H, Rakhmetova A, Wassmer SR, Jungraithmayr T, Strehlau J, Kumar AS, Bagga A, Soliman NA, Mane SM, Kaufman L, Lowy DR, Jairajpuri MA, Lifton RP, Pei Y, Zenker M, Kure S, Hildebrandt F Source: Nat Commun 2018 May 17;9(1):1960 Publication date: 2018-05-17
A mutation in transcription factor MAFB causes Focal Segmental Glomerulosclerosis with Duane Retraction Syndrome.
Author(s): Sato Y, Tsukaguchi H, Morita H, Higasa K, Tran MTN, Hamada M, Usui T, Morito N, Horita S, Hayashi T, Takagi J, Yamaguchi I, Nguyen HT, Harada M, Inui K, Maruta Y, Inoue Y, Koiwa F, Sato H, Matsuda F, Ayabe S, Mizuno S, Sugiyama F, Takahashi S, Yoshimura A Source: Kidney Int 2018 May 17; Publication date: 2018-05-17
The Underestimated Burden of Monogenic Diseases in Adult-Onset ESRD.
Author(s): Cornec-Le Gall E, Harris PC Source: J Am Soc Nephrol 2018 May 16; Publication date: 2018-05-16
Treatment of Genetic Forms of Nephrotic Syndrome.
Author(s): Kemper MJ, Lemke A Source: Frontiers in pediatrics Publication date: 2018
Alport syndrome: a unified classification of genetic disorders of collagen IV α345: a position paper of the Alport Syndrome Classification Working Group.
Author(s): Kashtan CE, Ding J, Garosi G, Heidet L, Massella L, Nakanishi K, Nozu K, Renieri A, Rheault M, Wang F, Gross O Source: Kidney international Publication date: 2018-05
Cyclosporine A responsive congenital nephrotic syndrome with single heterozygous variants in NPHS1, NPHS2, and PLCE1.
Author(s): Eichinger A, Ponsel S, Bergmann C, Günthner R, Hoefele J, Amann K, Lange-Sperandio B Source: Pediatric nephrology (Berlin, Germany) Publication date: 2018-04-16 |