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Page 1
Novel FOXF1 mutations in sporadic and familial cases of alveolar capillary dysplasia with misaligned pulmonary veins imply a role for its DNA binding domain.
Sen P, Yang Y, Navarro C, Silva I, Szafranski P, Kolodziejska KE, Dharmadhikari AV, Mostafa H, Kozakewich H, Kearney D, Cahill JB, Whitt M, Bilic M, Margraf L, Charles A, Goldblatt J, Gibson K, Lantz PE, Garvin AJ, Petty J, Kiblawi Z, Zuppan C, McConkie-Rosell A, McDonald MT, Peterson-Carmichael SL, Gaede JT, Shivanna B, Schady D, Friedlich PS, Hays SR, Palafoll IV, Siebers-Renelt U, Bohring A, Finn LS, Siebert JR, Galambos C, Nguyen L, Riley M, Chassaing N, Vigouroux A, Rocha G, Fernandes S, Brumbaugh J, Roberts K, Ho-Ming L, Lo IF, Lam S, Gerychova R, Jezova M, Valaskova I, Fellmann F, Afshar K, Giannoni E, Muhlethaler V, Liang J, Beckmann JS, Lioy J, Deshmukh H, Srinivasan L, Swarr DT, Sloman M, Shaw-Smith C, van Loon RL, Hagman C, Sznajer Y, Barrea C, Galant C, Detaille T, Wambach JA, Cole FS, Hamvas A, Prince LS, Diderich KE, Brooks AS, Verdijk RM, Ravindranathan H, Sugo E, Mowat D, Baker ML, Langston C, Welty S, Stankiewicz P. Sen P, et al. Among authors: schady d. Hum Mutat. 2013 Jun;34(6):801-11. doi: 10.1002/humu.22313. Epub 2013 Apr 12. Hum Mutat. 2013. PMID: 23505205 Free PMC article.
Heterozygous Truncating Variants in POMP Escape Nonsense-Mediated Decay and Cause a Unique Immune Dysregulatory Syndrome.
Poli MC, Ebstein F, Nicholas SK, de Guzman MM, Forbes LR, Chinn IK, Mace EM, Vogel TP, Carisey AF, Benavides F, Coban-Akdemir ZH, Gibbs RA, Jhangiani SN, Muzny DM, Carvalho CMB, Schady DA, Jain M, Rosenfeld JA, Emrick L, Lewis RA, Lee B; Undiagnosed Diseases Network members; Zieba BA, Küry S, Krüger E, Lupski JR, Bostwick BL, Orange JS. Poli MC, et al. Am J Hum Genet. 2018 Jun 7;102(6):1126-1142. doi: 10.1016/j.ajhg.2018.04.010. Epub 2018 May 24. Am J Hum Genet. 2018. PMID: 29805043 Free PMC article.
Argininosuccinate lyase in enterocytes protects from development of necrotizing enterocolitis.
Premkumar MH, Sule G, Nagamani SC, Chakkalakal S, Nordin A, Jain M, Ruan MZ, Bertin T, Dawson B, Zhang J, Schady D, Bryan NS, Campeau PM, Erez A, Lee B. Premkumar MH, et al. Among authors: schady d. Am J Physiol Gastrointest Liver Physiol. 2014 Aug 1;307(3):G347-54. doi: 10.1152/ajpgi.00403.2013. Epub 2014 Jun 5. Am J Physiol Gastrointest Liver Physiol. 2014. PMID: 24904080 Free PMC article.
A Compressible Bulla on the Upper Back of a Teen.
Schlichte MJ, Schady D, Hunt RD. Schlichte MJ, et al. Among authors: schady d. Pediatr Dermatol. 2015 Sep-Oct;32(5):735-6. doi: 10.1111/pde.12609. Epub 2015 Apr 29. Pediatr Dermatol. 2015. PMID: 25930245 No abstract available.
Biomarkers for liver disease in urea cycle disorders.
Nagamani SCS, Ali S, Izem R, Schady D, Masand P, Shneider BL, Leung DH, Burrage LC. Nagamani SCS, et al. Among authors: schady d. Mol Genet Metab. 2021 Jun;133(2):148-156. doi: 10.1016/j.ymgme.2021.04.001. Epub 2021 Apr 8. Mol Genet Metab. 2021. PMID: 33846069 Free PMC article. Clinical Trial.
Chronic liver disease and impaired hepatic glycogen metabolism in argininosuccinate lyase deficiency.
Burrage LC, Madan S, Li X, Ali S, Mohammad M, Stroup BM, Jiang MM, Cela R, Bertin T, Jin Z, Dai J, Guffey D, Finegold M; Members of the Urea Cycle Disorders Consortium (UCDC); Nagamani S, Minard CG, Marini J, Masand P, Schady D, Shneider BL, Leung DH, Bali D, Lee B. Burrage LC, et al. Among authors: schady d. JCI Insight. 2020 Feb 27;5(4):e132342. doi: 10.1172/jci.insight.132342. JCI Insight. 2020. PMID: 31990680 Free PMC article.
Bacteroides ovatus Promotes IL-22 Production and Reduces Trinitrobenzene Sulfonic Acid-Driven Colonic Inflammation.
Ihekweazu FD, Engevik MA, Ruan W, Shi Z, Fultz R, Engevik KA, Chang-Graham AL, Freeborn J, Park ES, Venable S, Horvath TD, Haidacher SJ, Haag AM, Goodwin A, Schady DA, Hyser JM, Spinler JK, Liu Y, Versalovic J. Ihekweazu FD, et al. Among authors: schady da. Am J Pathol. 2021 Apr;191(4):704-719. doi: 10.1016/j.ajpath.2021.01.009. Epub 2021 Jan 28. Am J Pathol. 2021. PMID: 33516788 Free PMC article.
57 results