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HLA and autoantibodies define scleroderma subtypes and risk in African and European Americans and suggest a role for molecular mimicry.
Gourh P, Safran SA, Alexander T, Boyden SE, Morgan ND, Shah AA, Mayes MD, Doumatey A, Bentley AR, Shriner D, Domsic RT, Medsger TA Jr, Ramos PS, Silver RM, Steen VD, Varga J, Hsu V, Saketkoo LA, Schiopu E, Khanna D, Gordon JK, Kron B, Criswell LA, Gladue H, Derk CT, Bernstein EJ, Bridges SL Jr, Shanmugam VK, Kolstad KD, Chung L, Kafaja S, Jan R, Trojanowski M, Goldberg A, Korman BD, Steinbach PJ, Chandrasekharappa SC, Mullikin JC, Adeyemo A, Rotimi C, Wigley FM, Kastner DL, Boin F, Remmers EF. Gourh P, et al. Among authors: steinbach pj. Proc Natl Acad Sci U S A. 2020 Jan 7;117(1):552-562. doi: 10.1073/pnas.1906593116. Epub 2019 Dec 23. Proc Natl Acad Sci U S A. 2020. PMID: 31871193 Free PMC article.
CELSR2, encoding a planar cell polarity protein, is a putative gene in Joubert syndrome with cortical heterotopia, microophthalmia, and growth hormone deficiency.
Vilboux T, Malicdan MC, Roney JC, Cullinane AR, Stephen J, Yildirimli D, Bryant J, Fischer R, Vemulapalli M, Mullikin JC; NISC Comparative Sequencing Program; Steinbach PJ, Gahl WA, Gunay-Aygun M. Vilboux T, et al. Among authors: steinbach pj. Am J Med Genet A. 2017 Mar;173(3):661-666. doi: 10.1002/ajmg.a.38005. Epub 2017 Jan 4. Am J Med Genet A. 2017. PMID: 28052552 Free PMC article.
J3-crystallin of the jellyfish lens: similarity to saposins.
Piatigorsky J, Norman B, Dishaw LJ, Kos L, Horwitz J, Steinbach PJ, Kozmik Z. Piatigorsky J, et al. Among authors: steinbach pj. Proc Natl Acad Sci U S A. 2001 Oct 23;98(22):12362-7. doi: 10.1073/pnas.231310698. Proc Natl Acad Sci U S A. 2001. PMID: 11675486 Free PMC article.
Identifying protein kinase target preferences using mass spectrometry.
Douglass J, Gunaratne R, Bradford D, Saeed F, Hoffert JD, Steinbach PJ, Knepper MA, Pisitkun T. Douglass J, et al. Among authors: steinbach pj. Am J Physiol Cell Physiol. 2012 Oct 1;303(7):C715-27. doi: 10.1152/ajpcell.00166.2012. Epub 2012 Jun 20. Am J Physiol Cell Physiol. 2012. PMID: 22723110 Free PMC article.
Loss of function mutations in VARS encoding cytoplasmic valyl-tRNA synthetase cause microcephaly, seizures, and progressive cerebral atrophy.
Stephen J, Nampoothiri S, Banerjee A, Tolman NJ, Penninger JM, Elling U, Agu CA, Burke JD, Devadathan K, Kannan R, Huang Y, Steinbach PJ, Martinis SA, Gahl WA, Malicdan MCV. Stephen J, et al. Among authors: steinbach pj. Hum Genet. 2018 Apr;137(4):293-303. doi: 10.1007/s00439-018-1882-3. Epub 2018 Apr 24. Hum Genet. 2018. PMID: 29691655 Free PMC article.
Biallelic HEPHL1 variants impair ferroxidase activity and cause an abnormal hair phenotype.
Sharma P, Reichert M, Lu Y, Markello TC, Adams DR, Steinbach PJ, Fuqua BK, Parisi X, Kaler SG, Vulpe CD, Anderson GJ, Gahl WA, Malicdan MCV. Sharma P, et al. Among authors: steinbach pj. PLoS Genet. 2019 May 24;15(5):e1008143. doi: 10.1371/journal.pgen.1008143. eCollection 2019 May. PLoS Genet. 2019. PMID: 31125343 Free PMC article.
185 results