Literature DB >> 23868926

An expanding universe of FSGS genes and phenotypes: LMX1B mutations cause familial autosomal dominant FSGS lacking extrarenal manifestations.

Jeffrey B Kopp.   

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Year:  2013        PMID： 23868926      PMCID： PMC3736706          DOI： 10.1681/ASN.2013060661

Source DB:  PubMed          Journal:  J Am Soc Nephrol        ISSN： 1046-6673            Impact factor:   10.121


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  12 in total

1.  Lmx1b controls the differentiation and migration of the superficial dorsal horn neurons of the spinal cord.

Authors:  Yu-Qiang Ding; Jun Yin; Artur Kania; Zhong-Qiu Zhao; Randy L Johnson; Zhou-Feng Chen
Journal:  Development       Date:  2004-06-30       Impact factor: 6.868

2.  Nail patella syndrome revisited: 50 years after linkage.

Authors:  I McIntosh; J A Dunston; L Liu; J E Hoover-Fong; E Sweeney
Journal:  Ann Hum Genet       Date:  2005-07       Impact factor: 1.670

3.  Nail patella syndrome: a review of the phenotype aided by developmental biology.

Authors:  E Sweeney; A Fryer; R Mountford; A Green; I McIntosh
Journal:  J Med Genet       Date:  2003-03       Impact factor: 6.318

4.  Restricted distribution of loss-of-function mutations within the LMX1B genes of nail-patella syndrome patients.

Authors:  M V Clough; J D Hamlington; I McIntosh
Journal:  Hum Mutat       Date:  1999       Impact factor: 4.878

5.  Genotype-phenotype studies in nail-patella syndrome show that LMX1B mutation location is involved in the risk of developing nephropathy.

Authors:  Ernie M H F Bongers; Frans T Huysmans; Elena Levtchenko; Jacky W de Rooy; Johan G Blickman; Ronald J C Admiraal; Patrick L M Huygen; Johannes R M Cruysberg; Pauline A M P Toolens; Judith B Prins; Paul F M Krabbe; George F Borm; Jeroen Schoots; Hans van Bokhoven; Angela M F van Remortele; Lies H Hoefsloot; Albert van Kampen; Nine V A M Knoers
Journal:  Eur J Hum Genet       Date:  2005-08       Impact factor: 4.246

6.  Nail patella-like renal lesions in the absence of skeletal abnormalities.

Authors:  N Dombros; A Katz
Journal:  Am J Kidney Dis       Date:  1982-01       Impact factor: 8.860

Review 7.  Manifold functions of the Nail-Patella Syndrome gene Lmx1b in vertebrate development.

Authors:  Jin-Xia Dai; Randy L Johnson; Yu-Qiang Ding
Journal:  Dev Growth Differ       Date:  2009-02-16       Impact factor: 2.053

8.  A spectrum of LMX1B mutations in Nail-Patella syndrome: new point mutations, deletion, and evidence of mosaicism in unaffected parents.

Authors:  Monica Marini; Renata Bocciardi; Stefania Gimelli; Marco Di Duca; Maria T Divizia; Anwar Baban; Harald Gaspar; Isabella Mammi; Livia Garavelli; Roberto Cerone; Francesco Emma; Maria F Bedeschi; Romano Tenconi; Alberto Sensi; Andrea Salmaggi; Mario Bengala; Francesca Mari; Gianluca Colussi; Krzysztof Szczaluba; Stylianos E Antonarakis; Marco Seri; Margherita Lerone; Roberto Ravazzolo
Journal:  Genet Med       Date:  2010-07       Impact factor: 8.822

9.  The transcriptional regulation of podocin (NPHS2) by Lmx1b and a promoter single nucleotide polymorphism.

Authors:  Sigrid Harendza; Rolf A K Stahl; André Schneider
Journal:  Cell Mol Biol Lett       Date:  2009-06-27       Impact factor: 5.787

10.  Clinico-genetic study of nail-patella syndrome.

Authors:  Beom Hee Lee; Tae-Joon Cho; Hyun Jin Choi; Hee Kyung Kang; In Seok Lim; Yong-Hoon Park; Il Soo Ha; Yong Choi; Hae Il Cheong
Journal:  J Korean Med Sci       Date:  2009-01-28       Impact factor: 2.153
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  4 in total

1.  A novel LMX1B mutation in a family with end-stage renal disease of 'unknown cause'.

Authors:  Noel Edwards; Sarah J Rice; Shreya Raman; Ann Marie Hynes; Shalabh Srivastava; Iain Moore; Mohamed Al-Hamed; Yaobo Xu; Mauro Santibanez-Koref; David T Thwaites; Daniel P Gale; John A Sayer
Journal:  Clin Kidney J       Date:  2014-12-05

2.  A novel model of nephrotic syndrome results from a point mutation in Lama5 and is modified by genetic background.

Authors:  Sara Falcone; Thomas Nicol; Andrew Blease; Michael J Randles; Elizabeth Angus; Anton Page; Frederick W K Tam; Charles D Pusey; Rachel Lennon; Paul K Potter
Journal:  Kidney Int       Date:  2021-11-10       Impact factor: 10.612

3.  Next-generation sequencing to dissect hereditary nephrotic syndrome in mice identifies a hypomorphic mutation in Lamb2 and models Pierson's syndrome.

Authors:  Katherine R Bull; Thomas Mason; Andrew J Rimmer; Tanya L Crockford; Karlee L Silver; Tiphaine Bouriez-Jones; Tertius A Hough; Shirine Chaudhry; Ian S D Roberts; Christopher C Goodnow; Richard J Cornall
Journal:  J Pathol       Date:  2014-02-06       Impact factor: 7.996

4.  Gene mutation analysis in 12 Chinese children with congenital nephrotic syndrome.

Authors:  Guo-Min Li; Qi Cao; Qian Shen; Li Sun; Yi-Hui Zhai; Hai-Mei Liu; Yu An; Hong Xu
Journal:  BMC Nephrol       Date:  2018-12-29       Impact factor: 2.388
  4 in total

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