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431 results

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Page 1
Recessive loss of function of the neuronal ubiquitin hydrolase UCHL1 leads to early-onset progressive neurodegeneration.
Bilguvar K, Tyagi NK, Ozkara C, Tuysuz B, Bakircioglu M, Choi M, Delil S, Caglayan AO, Baranoski JF, Erturk O, Yalcinkaya C, Karacorlu M, Dincer A, Johnson MH, Mane S, Chandra SS, Louvi A, Boggon TJ, Lifton RP, Horwich AL, Gunel M. Bilguvar K, et al. Among authors: lifton rp. Proc Natl Acad Sci U S A. 2013 Feb 26;110(9):3489-94. doi: 10.1073/pnas.1222732110. Epub 2013 Jan 28. Proc Natl Acad Sci U S A. 2013. PMID: 23359680 Free PMC article.
Genetic determinants of human hypertension.
Lifton RP. Lifton RP. Proc Natl Acad Sci U S A. 1995 Sep 12;92(19):8545-51. doi: 10.1073/pnas.92.19.8545. Proc Natl Acad Sci U S A. 1995. PMID: 7567973 Free PMC article. Review.
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: lifton rp. 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.
Counting strokes.
Günel M, Lifton RP. Günel M, et al. Among authors: lifton rp. Nat Genet. 1996 Aug;13(4):384-5. doi: 10.1038/ng0896-384. Nat Genet. 1996. PMID: 8696326 No abstract available.
Genetic heterogeneity of inherited cerebral cavernous malformation.
Günel M, Awad IA, Finberg K, Steinberg GK, Craig HD, Cepeda O, Nelson-Williams C, Lifton RP. Günel M, et al. Among authors: lifton rp. Neurosurgery. 1996 Jun;38(6):1265-71. doi: 10.1097/00006123-199606000-00059. Neurosurgery. 1996. PMID: 8727164
Mutations in the chloride-bicarbonate exchanger gene AE1 cause autosomal dominant but not autosomal recessive distal renal tubular acidosis.
Karet FE, Gainza FJ, Györy AZ, Unwin RJ, Wrong O, Tanner MJ, Nayir A, Alpay H, Santos F, Hulton SA, Bakkaloglu A, Ozen S, Cunningham MJ, di Pietro A, Walker WG, Lifton RP. Karet FE, et al. Among authors: lifton rp. Proc Natl Acad Sci U S A. 1998 May 26;95(11):6337-42. doi: 10.1073/pnas.95.11.6337. Proc Natl Acad Sci U S A. 1998. PMID: 9600966 Free PMC article.
Finding genetic contributions to sporadic disease: a recessive locus at 12q24 commonly contributes to patent ductus arteriosus.
Mani A, Meraji SM, Houshyar R, Radhakrishnan J, Mani A, Ahangar M, Rezaie TM, Taghavinejad MA, Broumand B, Zhao H, Nelson-Williams C, Lifton RP. Mani A, et al. Among authors: lifton rp. Proc Natl Acad Sci U S A. 2002 Nov 12;99(23):15054-9. doi: 10.1073/pnas.192582999. Epub 2002 Oct 30. Proc Natl Acad Sci U S A. 2002. PMID: 12409608 Free PMC article.
431 results