| Publications | CLPUB00720
Greene A.E., Mulivor R.A.
1986/1987 catalog of cell lines. NIGMS human genetic mutant cell repository. 13th edition. October 1986.
(In misc. document) Institute for Medical Research (Camden, N.J.) NIH 87-2011; pp.1-549; National Institutes of Health; Bethesda; USA (1986) PubMed=3745952; DOI=10.1111/1523-1747.ep12285424
Sephel G.C., Davidson J.M.
Elastin production in human skin fibroblast cultures and its decline with age.
J. Invest. Dermatol. 86:279-285(1986) PubMed=2837086; PMCID=PMC1715274
Winkler J.K., Suttle D.P.
Analysis of UMP synthase gene and mRNA structure in hereditary orotic aciduria fibroblasts.
Am. J. Hum. Genet. 43:86-94(1988) PubMed=2475503; DOI=10.1016/S0021-9258(19)84861-5
Perry M.E., Jones M.E.
Orotic aciduria fibroblasts express a labile form of UMP synthase.
J. Biol. Chem. 264:15522-15528(1989) PubMed=2705456; PMCID=PMC1715639
Weiss M.J., Ray K., Fallon M.D., Whyte M.P., Fedde K.N., Lafferty M.A., Mulivor R.A., Harris H.
Analysis of liver/bone/kidney alkaline phosphatase mRNA, DNA, and enzymatic activity in cultured skin fibroblasts from 14 unrelated patients with severe hypophosphatasia.
Am. J. Hum. Genet. 44:686-694(1989) PubMed=1652892; PMCID=PMC1683123
Zhong N., Martiniuk F., Tzall S., Hirschhorn R.
Identification of a missense mutation in one allele of a patient with Pompe disease, and use of endonuclease digestion of PCR-amplified RNA to demonstrate lack of mRNA expression from the second allele.
Am. J. Hum. Genet. 49:635-645(1991) CLPUB00447
Mulivor R.A., Suchy S.F.
1992/1993 catalog of cell lines. NIGMS human genetic mutant cell repository. 16th edition. October 1992.
(In misc. document) Institute for Medical Research (Camden, N.J.) NIH 92-2011; pp.1-918; National Institutes of Health; Bethesda; USA (1992) PubMed=8605078; DOI=10.1007/BF02789413
Vazquez F., Grider A.
The effect of the acrodermatitis enteropathica mutation on zinc uptake in human fibroblasts.
Biol. Trace Elem. Res. 50:109-117(1995) PubMed=17668376; DOI=10.1086/519248; PMCID=PMC1950802
Prandini P., Deutsch S., Lyle R., Gagnebin M., Delucinge-Vivier C., Delorenzi M., Gehrig C., Descombes P., Sherman S.L., Dagna-Bricarelli F., Baldo C., Novelli A., Dallapiccola B., Antonarakis S.E.
Natural gene-expression variation in Down syndrome modulates the outcome of gene-dosage imbalance.
Am. J. Hum. Genet. 81:252-263(2007) PubMed=18973801; DOI=10.1016/j.freeradbiomed.2008.09.028
Duarte T.L., Cooke M.S., Jones G.D.D.
Gene expression profiling reveals new protective roles for vitamin C in human skin cells.
Free Radic. Biol. Med. 46:78-87(2009) PubMed=24119401; DOI=10.1016/j.molcel.2013.09.009; PMCID=PMC4039290
Chen J.-Y., Lin J.-R., Tsai F.-C., Meyer T.
Dosage of Dyrk1a shifts cells within a p21-cyclin D1 signaling map to control the decision to enter the cell cycle.
Mol. Cell 52:87-100(2013) PubMed=25732146; DOI=10.2174/1566524015666150303110300; PMCID=PMC4428755
Kano S.-i., Yuan M., Cardarelli R.A., Maegawa G., Higurashi N., Gaval-Cruz M., Wilson A.M., Tristan C.A., Kondo M.A., Chen Y., Koga M., Obie C., Ishizuka K., Seshadri S., Srivastava R., Kato T.A., Horiuchi Y., Sedlak T.W., Lee Y., Rapoport J.L., Hirose S., Okano H., Valle D.L., O'Donnell P., Sawa A., Kai M.
Clinical utility of neuronal cells directly converted from fibroblasts of patients for neuropsychiatric disorders: studies of lysosomal storage diseases and channelopathy.
Curr. Mol. Med. 15:138-145(2015) PubMed=27543334; DOI=10.1073/pnas.1610020113; PMCID=PMC5018765
Reid-Bayliss K.S., Arron S.T., Loeb L.A., Bezrookove V., Cleaver J.E.
Why Cockayne syndrome patients do not get cancer despite their DNA repair deficiency.
Proc. Natl. Acad. Sci. U.S.A. 113:10151-10156(2016) PubMed=30220252; DOI=10.1186/s13023-018-0886-3; PMCID=PMC6139903
Vu M., Li R., Baskfield A., Lu B., Farkhondeh A., Gorshkov K., Motabar O., Beers J.K., Chen G.-K., Zou J.-Z., Espejo-Mojica A.J., Rodriguez-Lopez A., Almeciga-Diaz C.J., Barrera L.A., Jiang X.-T., Ory D.S., Marugan J.J., Zheng W.
Neural stem cells for disease modeling and evaluation of therapeutics for Tay-Sachs disease.
Orphanet J. Rare Dis. 13:152.1-152.15(2018) PubMed=30497978; DOI=10.1016/j.ebiom.2018.11.037; PMCID=PMC6306395
Fog C.K., Zago P., Malini E., Solanko L.M., Peruzzo P., Bornaes C., Magnoni R., Mehmedbasic A., Petersen N.H.T., Bembi B., Aerts J.F.M.G., Dardis A., Kirkegaard T.
The heat shock protein amplifier arimoclomol improves refolding, maturation and lysosomal activity of glucocerebrosidase.
EBioMedicine 38:142-153(2018) PubMed=30567591; DOI=10.1186/s13059-018-1599-6; PMCID=PMC6300908
Fleischer J.G., Schulte R., Tsai H.H., Tyagi S., Ibarra A., Shokhirev M.N., Huang L., Hetzer M.W., Navlakha S.
Predicting age from the transcriptome of human dermal fibroblasts.
Genome Biol. 19:221.1-221.8(2018) PubMed=33038742; DOI=10.1016/j.scr.2020.102011; PMCID=PMC7810501
Xu X.-G., Pradhan M., Xu M., Cheng Y.-S., Beers J.K., Linask K.L., Lin Y.-S., Zheng W., Zou J.-H.
Four induced pluripotent stem cell lines (TRNDi021-C, TRNDi023-D, TRNDi024-D and TRNDi025-A) generated from fibroblasts of four healthy individuals.
Stem Cell Res. 49:102011-102011(2020) |
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