Hershfield M - Search Results

1

Sequence-Based Screening of Patients With Idiopathic Polyarteritis Nodosa, Granulomatosis With Polyangiitis, and Microscopic Polyangiitis for Deleterious Genetic Variants in ADA2.

Schnappauf O, Sampaio Moura N, Aksentijevich I, Stoffels M, Ombrello AK, Hoffmann P, Barron K, Remmers EF, Hershfield M, Kelly SJ; NISC Comparative Sequencing Program; Cuthbertson D, Carette S, Chung SA, Forbess L, Khalidi NA, Koening CL, Langford CA, McAlear CA, Monach PA, Moreland L, Pagnoux C, Seo P, Springer JM, Sreih AG, Warrington KJ, Ytterberg SR, Kastner DL, Grayson PC, Merkel PA; Vasculitis Clinical Research Consortium. Schnappauf O, et al. Among authors: hershfield m. Arthritis Rheumatol. 2021 Mar;73(3):512-519. doi: 10.1002/art.41549. Epub 2021 Feb 3. Arthritis Rheumatol. 2021. PMID: 33021335 Free PMC article.

2

Correct splicing despite mutation of the invariant first nucleotide of a 5' splice site: a possible basis for disparate clinical phenotypes in siblings with adenosine deaminase deficiency.

Arredondo-Vega FX, Santisteban I, Kelly S, Schlossman CM, Umetsu DT, Hershfield MS. Arredondo-Vega FX, et al. Among authors: hershfield ms. Am J Hum Genet. 1994 May;54(5):820-30. Am J Hum Genet. 1994. PMID: 8178821 Free PMC article.

3

The binding site of human adenosine deaminase for CD26/Dipeptidyl peptidase IV: the Arg142Gln mutation impairs binding to cd26 but does not cause immune deficiency.

Richard E, Arredondo-Vega FX, Santisteban I, Kelly SJ, Patel DD, Hershfield MS. Richard E, et al. Among authors: hershfield ms. J Exp Med. 2000 Nov 6;192(9):1223-36. doi: 10.1084/jem.192.9.1223. J Exp Med. 2000. PMID: 11067872 Free PMC article.

4

Control of hyperuricemia in subjects with refractory gout, and induction of antibody against poly(ethylene glycol) (PEG), in a phase I trial of subcutaneous PEGylated urate oxidase.

Ganson NJ, Kelly SJ, Scarlett E, Sundy JS, Hershfield MS. Ganson NJ, et al. Arthritis Res Ther. 2006;8(1):R12. doi: 10.1186/ar1861. Arthritis Res Ther. 2006. PMID: 16356199 Free PMC article. Clinical Trial.

5

Pharmacokinetics and pharmacodynamics of intravenous PEGylated recombinant mammalian urate oxidase in patients with refractory gout.

Sundy JS, Ganson NJ, Kelly SJ, Scarlett EL, Rehrig CD, Huang W, Hershfield MS. Sundy JS, et al. Arthritis Rheum. 2007 Mar;56(3):1021-8. doi: 10.1002/art.22403. Arthritis Rheum. 2007. PMID: 17328081 Free article. Clinical Trial.

6

Uric acid is a danger signal of increasing risk for osteoarthritis through inflammasome activation.

Denoble AE, Huffman KM, Stabler TV, Kelly SJ, Hershfield MS, McDaniel GE, Coleman RE, Kraus VB. Denoble AE, et al. Among authors: hershfield ms. Proc Natl Acad Sci U S A. 2011 Feb 1;108(5):2088-93. doi: 10.1073/pnas.1012743108. Epub 2011 Jan 18. Proc Natl Acad Sci U S A. 2011. PMID: 21245324 Free PMC article.

7

Early-onset stroke and vasculopathy associated with mutations in ADA2.

Zhou Q, Yang D, Ombrello AK, Zavialov AV, Toro C, Zavialov AV, Stone DL, Chae JJ, Rosenzweig SD, Bishop K, Barron KS, Kuehn HS, Hoffmann P, Negro A, Tsai WL, Cowen EW, Pei W, Milner JD, Silvin C, Heller T, Chin DT, Patronas NJ, Barber JS, Lee CC, Wood GM, Ling A, Kelly SJ, Kleiner DE, Mullikin JC, Ganson NJ, Kong HH, Hambleton S, Candotti F, Quezado MM, Calvo KR, Alao H, Barham BK, Jones A, Meschia JF, Worrall BB, Kasner SE, Rich SS, Goldbach-Mansky R, Abinun M, Chalom E, Gotte AC, Punaro M, Pascual V, Verbsky JW, Torgerson TR, Singer NG, Gershon TR, Ozen S, Karadag O, Fleisher TA, Remmers EF, Burgess SM, Moir SL, Gadina M, Sood R, Hershfield MS, Boehm M, Kastner DL, Aksentijevich I. Zhou Q, et al. Among authors: hershfield ms. N Engl J Med. 2014 Mar 6;370(10):911-20. doi: 10.1056/NEJMoa1307361. Epub 2014 Feb 19. N Engl J Med. 2014. PMID: 24552284 Free PMC article.

8

Hematopoietic stem cell transplantation rescues the immunologic phenotype and prevents vasculopathy in patients with adenosine deaminase 2 deficiency.

Van Eyck L Jr, Hershfield MS, Pombal D, Kelly SJ, Ganson NJ, Moens L, Frans G, Schaballie H, De Hertogh G, Dooley J, Bossuyt X, Wouters C, Liston A, Meyts I. Van Eyck L Jr, et al. J Allergy Clin Immunol. 2015 Jan;135(1):283-7.e5. doi: 10.1016/j.jaci.2014.10.010. Epub 2014 Nov 25. J Allergy Clin Immunol. 2015. PMID: 25457153 Free PMC article. No abstract available.

9

Deficiency of Adenosine Deaminase 2 Causes Antibody Deficiency.

Schepp J, Bulashevska A, Mannhardt-Laakmann W, Cao H, Yang F, Seidl M, Kelly S, Hershfield M, Grimbacher B. Schepp J, et al. Among authors: hershfield m. J Clin Immunol. 2016 Apr;36(3):179-86. doi: 10.1007/s10875-016-0245-x. Epub 2016 Feb 27. J Clin Immunol. 2016. PMID: 26922074

10

Novel compound heterozygous variants in CECR1 gene associated with childhood onset polyarteritis nodosa and deficiency of ADA2.

Keer N, Hershfield M, Caskey T, Unizony S. Keer N, et al. Among authors: hershfield m. Rheumatology (Oxford). 2016 Jun;55(6):1145-7. doi: 10.1093/rheumatology/kew050. Epub 2016 Apr 11. Rheumatology (Oxford). 2016. PMID: 27069017 No abstract available.

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My NCBI Filters

Text availability

Article attribute

Article type

Publication date

231 results

Search Page