Pack MA - Search Results

1

Genetic-Variation-Driven Gene-Expression Changes Highlight Genes with Important Functions for Kidney Disease.

Ko YA, Yi H, Qiu C, Huang S, Park J, Ledo N, Köttgen A, Li H, Rader DJ, Pack MA, Brown CD, Susztak K. Ko YA, et al. Among authors: pack ma. Am J Hum Genet. 2017 Jun 1;100(6):940-953. doi: 10.1016/j.ajhg.2017.05.004. Am J Hum Genet. 2017. PMID: 28575649 Free PMC article.

2

Phenotypic heterogeneity in osteogenesis imperfecta: the mildly affected mother of a proband with a lethal variant has the same mutation substituting cysteine for alpha 1-glycine 904 in a type I procollagen gene (COL1A1).

Constantinou CD, Pack M, Young SB, Prockop DJ. Constantinou CD, et al. Am J Hum Genet. 1990 Oct;47(4):670-9. Am J Hum Genet. 1990. PMID: 2220807 Free PMC article.

3

Transgenic labeling of the zebrafish pronephric duct and tubules using a promoter from the enpep gene.

Seiler C, Pack M. Seiler C, et al. Gene Expr Patterns. 2011 Jan-Feb;11(1-2):118-21. doi: 10.1016/j.gep.2010.10.002. Epub 2010 Oct 20. Gene Expr Patterns. 2011. PMID: 20969977 Free PMC article.

4

A novel keratin18 promoter that drives reporter gene expression in the intrahepatic and extrahepatic biliary system allows isolation of cell-type specific transcripts from zebrafish liver.

Wilkins BJ, Gong W, Pack M. Wilkins BJ, et al. Gene Expr Patterns. 2014 Mar;14(2):62-8. doi: 10.1016/j.gep.2013.12.002. Epub 2014 Jan 3. Gene Expr Patterns. 2014. PMID: 24394404 Free PMC article.

5

IBD. Fishing for missing heritability in IBD.

Pack M. Pack M. Nat Rev Gastroenterol Hepatol. 2015 Jun;12(6):318-20. doi: 10.1038/nrgastro.2015.72. Epub 2015 May 5. Nat Rev Gastroenterol Hepatol. 2015. PMID: 25942704

6

Modeling intestinal disorders using zebrafish.

Zhao X, Pack M. Zhao X, et al. Methods Cell Biol. 2017;138:241-270. doi: 10.1016/bs.mcb.2016.11.006. Epub 2017 Jan 7. Methods Cell Biol. 2017. PMID: 28129846 Review.

7

Protein-elongating mutations in MYH11 are implicated in a dominantly inherited smooth muscle dysmotility syndrome with severe esophageal, gastric, and intestinal disease.

Gilbert MA, Schultz-Rogers L, Rajagopalan R, Grochowski CM, Wilkins BJ, Biswas S, Conlin LK, Fiorino KN, Dhamija R, Pack MA, Klee EW, Piccoli DA, Spinner NB. Gilbert MA, et al. Among authors: pack ma. Hum Mutat. 2020 May;41(5):973-982. doi: 10.1002/humu.23986. Epub 2020 Feb 6. Hum Mutat. 2020. PMID: 31944481

8

The zebrafish onecut gene hnf-6 functions in an evolutionarily conserved genetic pathway that regulates vertebrate biliary development.

Matthews RP, Lorent K, Russo P, Pack M. Matthews RP, et al. Dev Biol. 2004 Oct 15;274(2):245-59. doi: 10.1016/j.ydbio.2004.06.016. Dev Biol. 2004. PMID: 15385156 Free article.

9

Zebrafish vps33b, an ortholog of the gene responsible for human arthrogryposis-renal dysfunction-cholestasis syndrome, regulates biliary development downstream of the onecut transcription factor hnf6.

Matthews RP, Plumb-Rudewiez N, Lorent K, Gissen P, Johnson CA, Lemaigre F, Pack M. Matthews RP, et al. Development. 2005 Dec;132(23):5295-306. doi: 10.1242/dev.02140. Development. 2005. PMID: 16284120

10

Zebrafish models of human liver development and disease.

Wilkins BJ, Pack M. Wilkins BJ, et al. Compr Physiol. 2013 Jul;3(3):1213-30. doi: 10.1002/cphy.c120021. Compr Physiol. 2013. PMID: 23897685 Free PMC article. Review.

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