Literature DB >> 18281315

Mutations in RPGRIP1L: extending the clinical spectrum of ciliopathies.

Olivier Devuyst1, Véronique J Arnould.   

Abstract

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Year:  2008        PMID： 18281315     DOI： 10.1093/ndt/gfn033

Source DB:  PubMed          Journal:  Nephrol Dial Transplant        ISSN： 0931-0509            Impact factor:   5.992


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  5 in total

1.  Cut-like homeobox 1 (CUX1) regulates expression of the fat mass and obesity-associated and retinitis pigmentosa GTPase regulator-interacting protein-1-like (RPGRIP1L) genes and coordinates leptin receptor signaling.

Authors:  George Stratigopoulos; Charles A LeDuc; Maria L Cremona; Wendy K Chung; Rudolph L Leibel
Journal:  J Biol Chem       Date:  2010-10-31       Impact factor: 5.157

Review 2.  The Molecular Basis of Human Anophthalmia and Microphthalmia.

Authors:  Philippa Harding; Mariya Moosajee
Journal:  J Dev Biol       Date:  2019-08-14

3.  Prenatal phenotype analysis and mutation identification of a fetus with meckel gruber syndrome.

Authors:  Laura Moreno-Leon; Marco A Quezada-Ramirez; Evan Bilsbury; Courtney Kiss; Andrea Guerin; Hemant Khanna
Journal:  Front Genet       Date:  2022-08-19       Impact factor: 4.772

4.  The transition zone: an essential functional compartment of cilia.

Authors:  Katarzyna Szymanska; Colin A Johnson
Journal:  Cilia       Date:  2012-07-02

5.  Scalable probabilistic PCA for large-scale genetic variation data.

Authors:  Aman Agrawal; Alec M Chiu; Minh Le; Eran Halperin; Sriram Sankararaman
Journal:  PLoS Genet       Date:  2020-05-29       Impact factor: 6.020
  5 in total

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