Literature DB >> 18667737

Fanconi or not Fanconi? Lowe syndrome revisited.

Robert Kleta.   

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Year:  2008        PMID： 18667737      PMCID： PMC4571153          DOI： 10.2215/CJN.02880608

Source DB:  PubMed          Journal:  Clin J Am Soc Nephrol        ISSN： 1555-9041            Impact factor:   8.237


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  8 in total

1.  Genetic and physical mapping of the locus for autosomal dominant renal Fanconi syndrome, on chromosome 15q15.3.

Authors:  U Lichter-Konecki; K W Broman; E B Blau; D S Konecki
Journal:  Am J Hum Genet       Date:  2000-11-22       Impact factor: 11.025

2.  Long-term follow-up of well-treated nephropathic cystinosis patients.

Authors:  Robert Kleta; Isa Bernardini; Masako Ueda; William S Varade; Chanika Phornphutkul; Donna Krasnewich; William A Gahl
Journal:  J Pediatr       Date:  2004-10       Impact factor: 4.406

3.  The normal kidney filters nephrotic levels of albumin retrieved by proximal tubule cells: retrieval is disrupted in nephrotic states.

Authors:  L M Russo; R M Sandoval; M McKee; T M Osicka; A B Collins; D Brown; B A Molitoris; W D Comper
Journal:  Kidney Int       Date:  2007-01-17       Impact factor: 10.612

4.  Organic-aciduria, decreased renal ammonia production, hydrophthalmos, and mental retardation; a clinical entity.

Authors:  C U LOWE; M TERREY; E A MacLACHLAN
Journal:  AMA Am J Dis Child       Date:  1952-02

5.  [Chronic aminoaciduria (amino acid diabetes or nephrotic-glucosuric dwarfism) in glycogen storage and cystine disease].

Authors:  G FANCONI; H BICKEL
Journal:  Helv Paediatr Acta       Date:  1949-11

Review 6.  Controversies in nephrology: renal albumin handling, facts, and artifacts!

Authors:  E I Christensen; H Birn; B Rippe; A B Maunsbach
Journal:  Kidney Int       Date:  2007-09-05       Impact factor: 10.612

7.  Idiopathic Fanconi syndrome in a family. Part I. Clinical aspects.

Authors:  A Tolaymat; A Sakarcan; R Neiberger
Journal:  J Am Soc Nephrol       Date:  1992-02       Impact factor: 10.121

8.  Renal phenotype in Lowe Syndrome: a selective proximal tubular dysfunction.

Authors:  Detlef Bockenhauer; Arend Bokenkamp; William van't Hoff; Elena Levtchenko; Joana E Kist-van Holthe; Velibor Tasic; Michael Ludwig
Journal:  Clin J Am Soc Nephrol       Date:  2008-05-14       Impact factor: 8.237
  8 in total
  14 in total

Review 1.  Tubular transport: core curriculum 2010.

Authors:  Marta Christov; Seth L Alper
Journal:  Am J Kidney Dis       Date:  2010-10-30       Impact factor: 8.860

Review 2.  The 5-phosphatase OCRL in Lowe syndrome and Dent disease 2.

Authors:  Maria Antonietta De Matteis; Leopoldo Staiano; Francesco Emma; Olivier Devuyst
Journal:  Nat Rev Nephrol       Date:  2017-07-03       Impact factor: 28.314

3.  A structural basis for Lowe syndrome caused by mutations in the Rab-binding domain of OCRL1.

Authors:  Xiaomin Hou; Nina Hagemann; Stefan Schoebel; Wulf Blankenfeldt; Roger S Goody; Kai S Erdmann; Aymelt Itzen
Journal:  EMBO J       Date:  2011-03-04       Impact factor: 11.598

4.  Two closely related endocytic proteins that share a common OCRL-binding motif with APPL1.

Authors:  Laura E Swan; Livia Tomasini; Michelle Pirruccello; Joël Lunardi; Pietro De Camilli
Journal:  Proc Natl Acad Sci U S A       Date:  2010-02-02       Impact factor: 11.205

5.  Fanconi syndrome in an elderly patient with membranous nephropathy during treatment with the immunosuppressant mizoribine.

Authors:  Sho Nishikawa; Naoki Takahashi; Yudai Nishikawa; Seiji Yokoi; Sayu Morita; Yuki Shimamoto; Sayumi Sakashita; Kazuhisa Nishimori; Mamiko Kobayashi; Sachiko Fukushima; Daisuke Mikami; Hideki Kimura; Kenji Kasuno; Hironobu Naiki; Masayuki Iwano
Journal:  CEN Case Rep       Date:  2022-06-24

6.  Characterization of 28 novel patients expands the mutational and phenotypic spectrum of Lowe syndrome.

Authors:  Florian Recker; Marcin Zaniew; Detlef Böckenhauer; Nunzia Miglietti; Arend Bökenkamp; Anna Moczulska; Anna Rogowska-Kalisz; Guido Laube; Valerie Said-Conti; Belde Kasap-Demir; Anna Niemirska; Mieczysław Litwin; Grzegorz Siteń; Krystyna H Chrzanowska; Małgorzata Krajewska-Walasek; Sidharth K Sethi; Velibor Tasic; Franca Anglani; Maria Addis; Anna Wasilewska; Maria Szczepańska; Krzysztof Pawlaczyk; Przemysław Sikora; Michael Ludwig
Journal:  Pediatr Nephrol       Date:  2014-12-06       Impact factor: 3.714

Review 7.  Inherited cerebrorenal syndromes.

Authors:  Scott J Schurman; Steven J Scheinman
Journal:  Nat Rev Nephrol       Date:  2009-09       Impact factor: 28.314

Review 8.  Hypouricemia: what the practicing rheumatologist should know about this condition.

Authors:  Carlos Pineda; Carina Soto-Fajardo; Jaime Mendoza; Jessica Gutiérrez; Hugo Sandoval
Journal:  Clin Rheumatol       Date:  2019-10-24       Impact factor: 2.980

9.  Fainting Fanconi syndrome clarified by proxy: a case report.

Authors:  Stephen Benedict Walsh; Robert Unwin; Robert Kleta; William Van't Hoff; Paul Bass; Khalid Hussain; Sian Ellard; Detlef Bockenhauer
Journal:  BMC Nephrol       Date:  2017-07-11       Impact factor: 2.388

10.  Kidney-differentiated cells derived from Lowe Syndrome patient's iPSCs show ciliogenesis defects and Six2 retention at the Golgi complex.

Authors:  Wen-Chieh Hsieh; Swetha Ramadesikan; Donna Fekete; Ruben Claudio Aguilar
Journal:  PLoS One       Date:  2018-02-14       Impact factor: 3.240
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