Lu Y - Search Results

1

Paracellin-1, a renal tight junction protein required for paracellular Mg2+ resorption.

Simon DB, Lu Y, Choate KA, Velazquez H, Al-Sabban E, Praga M, Casari G, Bettinelli A, Colussi G, Rodriguez-Soriano J, McCredie D, Milford D, Sanjad S, Lifton RP. Simon DB, et al. Among authors: lu y. Science. 1999 Jul 2;285(5424):103-6. doi: 10.1126/science.285.5424.103. Science. 1999. PMID: 10390358

2

Mitotic recombination in patients with ichthyosis causes reversion of dominant mutations in KRT10.

Choate KA, Lu Y, Zhou J, Choi M, Elias PM, Farhi A, Nelson-Williams C, Crumrine D, Williams ML, Nopper AJ, Bree A, Milstone LM, Lifton RP. Choate KA, et al. Among authors: lu y. Science. 2010 Oct 1;330(6000):94-7. doi: 10.1126/science.1192280. Epub 2010 Aug 26. Science. 2010. PMID: 20798280 Free PMC article.

3

An incompletely penetrant novel mutation in COL7A1 causes epidermolysis bullosa pruriginosa and dominant dystrophic epidermolysis bullosa phenotypes in an extended kindred.

Yang CS, Lu Y, Farhi A, Nelson-Williams C, Kashgarian M, Glusac EJ, Lifton RP, Antaya RJ, Choate KA. Yang CS, et al. Among authors: lu y. Pediatr Dermatol. 2012 Nov-Dec;29(6):725-31. doi: 10.1111/j.1525-1470.2012.01757.x. Epub 2012 Apr 20. Pediatr Dermatol. 2012. PMID: 22515571 Free PMC article.

4

Hypertension caused by a truncated epithelial sodium channel gamma subunit: genetic heterogeneity of Liddle syndrome.

Hansson JH, Nelson-Williams C, Suzuki H, Schild L, Shimkets R, Lu Y, Canessa C, Iwasaki T, Rossier B, Lifton RP. Hansson JH, et al. Among authors: lu y. Nat Genet. 1995 Sep;11(1):76-82. doi: 10.1038/ng0995-76. Nat Genet. 1995. PMID: 7550319

5

A de novo missense mutation of the beta subunit of the epithelial sodium channel causes hypertension and Liddle syndrome, identifying a proline-rich segment critical for regulation of channel activity.

Hansson JH, Schild L, Lu Y, Wilson TA, Gautschi I, Shimkets R, Nelson-Williams C, Rossier BC, Lifton RP. Hansson JH, et al. Among authors: lu y. Proc Natl Acad Sci U S A. 1995 Dec 5;92(25):11495-9. doi: 10.1073/pnas.92.25.11495. Proc Natl Acad Sci U S A. 1995. PMID: 8524790 Free PMC article.

6

Mutations in subunits of the epithelial sodium channel cause salt wasting with hyperkalaemic acidosis, pseudohypoaldosteronism type 1.

Chang SS, Grunder S, Hanukoglu A, Rösler A, Mathew PM, Hanukoglu I, Schild L, Lu Y, Shimkets RA, Nelson-Williams C, Rossier BC, Lifton RP. Chang SS, et al. Among authors: lu y. Nat Genet. 1996 Mar;12(3):248-53. doi: 10.1038/ng0396-248. Nat Genet. 1996. PMID: 8589714

7

Wnk4 controls blood pressure and potassium homeostasis via regulation of mass and activity of the distal convoluted tubule.

Lalioti MD, Zhang J, Volkman HM, Kahle KT, Hoffmann KE, Toka HR, Nelson-Williams C, Ellison DH, Flavell R, Booth CJ, Lu Y, Geller DS, Lifton RP. Lalioti MD, et al. Among authors: lu y. Nat Genet. 2006 Oct;38(10):1124-32. doi: 10.1038/ng1877. Epub 2006 Sep 10. Nat Genet. 2006. PMID: 16964266

8

Identification of a PY motif in the epithelial Na channel subunits as a target sequence for mutations causing channel activation found in Liddle syndrome.

Schild L, Lu Y, Gautschi I, Schneeberger E, Lifton RP, Rossier BC. Schild L, et al. Among authors: lu y. EMBO J. 1996 May 15;15(10):2381-7. EMBO J. 1996. PMID: 8665845 Free PMC article.

9

Frequent somatic reversion of KRT1 mutations in ichthyosis with confetti.

Choate KA, Lu Y, Zhou J, Elias PM, Zaidi S, Paller AS, Farhi A, Nelson-Williams C, Crumrine D, Milstone LM, Lifton RP. Choate KA, et al. Among authors: lu y. J Clin Invest. 2015 Apr;125(4):1703-7. doi: 10.1172/JCI64415. Epub 2015 Mar 16. J Clin Invest. 2015. PMID: 25774499 Free PMC article.

10

Mutations in TGM1 in Ecuadorians with autosomal recessive congenital ichthyosis.

Zambrano H, Montalvan M, Cabezas J, Lu Y, Yang CS, Milstone LM, Choate K. Zambrano H, et al. Among authors: lu y. Int J Dermatol. 2014 Apr;53(4):e312-3. doi: 10.1111/ijd.12227. Epub 2013 Nov 21. Int J Dermatol. 2014. PMID: 24261627 Free PMC article. No abstract available.

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