Nelson-Williams C - Search Results

1

The choroid plexus links innate immunity to CSF dysregulation in hydrocephalus.

Robert SM, Reeves BC, Kiziltug E, Duy PQ, Karimy JK, Mansuri MS, Marlier A, Allington G, Greenberg ABW, DeSpenza T Jr, Singh AK, Zeng X, Mekbib KY, Kundishora AJ, Nelson-Williams C, Hao LT, Zhang J, Lam TT, Wilson R, Butler WE, Diluna ML, Feinberg P, Schafer DP, Movahedi K, Tannenbaum A, Koundal S, Chen X, Benveniste H, Limbrick DD Jr, Schiff SJ, Carter BS, Gunel M, Simard JM, Lifton RP, Alper SL, Delpire E, Kahle KT. Robert SM, et al. Among authors: nelson williams c. Cell. 2023 Feb 16;186(4):764-785.e21. doi: 10.1016/j.cell.2023.01.017. Cell. 2023. PMID: 36803604 Free PMC article.

2

A founder mutation as a cause of cerebral cavernous malformation in Hispanic Americans.

Gunel M, Awad IA, Finberg K, Anson JA, Steinberg GK, Batjer HH, Kopitnik TA, Morrison L, Giannotta SL, Nelson-Williams C, Lifton RP. Gunel M, et al. N Engl J Med. 1996 Apr 11;334(15):946-51. doi: 10.1056/NEJM199604113341503. N Engl J Med. 1996. PMID: 8596595 Free article.

3

Mutations in the Na-Cl cotransporter reduce blood pressure in humans.

Cruz DN, Simon DB, Nelson-Williams C, Farhi A, Finberg K, Burleson L, Gill JR, Lifton RP. Cruz DN, et al. Hypertension. 2001 Jun;37(6):1458-64. doi: 10.1161/01.hyp.37.6.1458. Hypertension. 2001. PMID: 11408395

4

KRIT1, a gene mutated in cerebral cavernous malformation, encodes a microtubule-associated protein.

Gunel M, Laurans MS, Shin D, DiLuna ML, Voorhees J, Choate K, Nelson-Williams C, Lifton RP. Gunel M, et al. Proc Natl Acad Sci U S A. 2002 Aug 6;99(16):10677-82. doi: 10.1073/pnas.122354499. Epub 2002 Jul 24. Proc Natl Acad Sci U S A. 2002. PMID: 12140362 Free PMC article.

5

WNK1, a kinase mutated in inherited hypertension with hyperkalemia, localizes to diverse Cl- -transporting epithelia.

Choate KA, Kahle KT, Wilson FH, Nelson-Williams C, Lifton RP. Choate KA, et al. Proc Natl Acad Sci U S A. 2003 Jan 21;100(2):663-8. doi: 10.1073/pnas.242728499. Epub 2003 Jan 8. Proc Natl Acad Sci U S A. 2003. PMID: 12522152 Free PMC article.

6

Mutational analysis of 206 families with cavernous malformations.

Laurans MS, DiLuna ML, Shin D, Niazi F, Voorhees JR, Nelson-Williams C, Johnson EW, Siegel AM, Steinberg GK, Berg MJ, Scott RM, Tedeschi G, Enevoldson TP, Anson J, Rouleau GA, Ogilvy C, Awad IA, Lifton RP, Gunel M. Laurans MS, et al. J Neurosurg. 2003 Jul;99(1):38-43. doi: 10.3171/jns.2003.99.1.0038. J Neurosurg. 2003. PMID: 12854741

7

A cluster of metabolic defects caused by mutation in a mitochondrial tRNA.

Wilson FH, Hariri A, Farhi A, Zhao H, Petersen KF, Toka HR, Nelson-Williams C, Raja KM, Kashgarian M, Shulman GI, Scheinman SJ, Lifton RP. Wilson FH, et al. Science. 2004 Nov 12;306(5699):1190-4. doi: 10.1126/science.1102521. Epub 2004 Oct 21. Science. 2004. PMID: 15498972 Free PMC article.

8

Syndromic patent ductus arteriosus: evidence for haploinsufficient TFAP2B mutations and identification of a linked sleep disorder.

Mani A, Radhakrishnan J, Farhi A, Carew KS, Warnes CA, Nelson-Williams C, Day RW, Pober B, State MW, Lifton RP. Mani A, et al. Proc Natl Acad Sci U S A. 2005 Feb 22;102(8):2975-9. doi: 10.1073/pnas.0409852102. Epub 2005 Jan 31. Proc Natl Acad Sci U S A. 2005. PMID: 15684060 Free PMC article.

9

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. Nat Genet. 2006 Oct;38(10):1124-32. doi: 10.1038/ng1877. Epub 2006 Sep 10. Nat Genet. 2006. PMID: 16964266

10

A translocation causing increased alpha-klotho level results in hypophosphatemic rickets and hyperparathyroidism.

Brownstein CA, Adler F, Nelson-Williams C, Iijima J, Li P, Imura A, Nabeshima Y, Reyes-Mugica M, Carpenter TO, Lifton RP. Brownstein CA, et al. Proc Natl Acad Sci U S A. 2008 Mar 4;105(9):3455-60. doi: 10.1073/pnas.0712361105. Epub 2008 Feb 28. Proc Natl Acad Sci U S A. 2008. PMID: 18308935 Free PMC article.

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