| Publications | CLPUB00720
Arthur E. Greene, Richard A. Mulivor;
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
Gregory Charles Sephel, Jeffrey M. Davidson;
Elastin production in human skin fibroblast cultures and its decline with age.
J. Invest. Dermatol. 86:279-285(1986) PubMed=2837086; PMCID=PMC1715274
Janet K. Winkler, D. Parker Suttle;
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
Mary Ellen Perry, Mary Ellen Jones;
Orotic aciduria fibroblasts express a labile form of UMP synthase.
J. Biol. Chem. 264:15522-15528(1989) PubMed=2705456; PMCID=PMC1715639
Mitchell J. Weiss, Kunal Ray, Michael D. Fallon, Michael Peter Whyte, Kenton N. Fedde, Mary Ann Lafferty, Richard A. Mulivor, Harry Harris;
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
Nan Zhong, Frank Martiniuk, Stephanie Tzall, Rochelle Hirschhorn;
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
Richard A. Mulivor, Sharon F. Suchy;
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
Florence Vazquez, Arthur Grider;
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
Paola Prandini, Samuel Deutsch, Robert Lyle, Maryline Gagnebin, Celine Delucinge-Vivier, Mauro Delorenzi, Corinne Gehrig, Patrick Descombes, Stephanie L. Sherman, Franca Dagna-Bricarelli, Chiara Baldo ...Show all 14 authors... , Antonio Novelli, Bruno Dallapiccola, Stylianos E. Antonarakis; Show fewer authors
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
Tiago L. Duarte, Marcus S. Cooke, George Don D. Jones;
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
Jia-Yun Chen, Jia-Ren Lin, Feng-Chiao Tsai, Tobias Meyer;
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
Shin-ichi Kano, Ming Yuan, Ross A. Cardarelli, Gustavo Maegawa, Norimichi Higurashi, Meriem Gaval-Cruz, Ashley M. Wilson, Carlos A. Tristan, Mari A. Kondo, Yian Chen, Minori Koga ...Show all 26 authors... , Cassandra Obie, Koko Ishizuka, Saurav Seshadri, Rupali Srivastava, Takahiro A. Kato, Yasue Horiuchi, Thomas W. Sedlak, Yohan Lee, Judith Livant Rapoport, Shinichi Hirose, Hideyuki Okano, David Lee Valle, Patricio O'Donnell, Akira Sawa, Mihoko Kai; Show fewer authors
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
Kate S. Reid-Bayliss, Sarah T. Arron, Lawrence A. Loeb, Vladimir Bezrookove, James Edward Cleaver;
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
Mylinh Vu, Rong Li, Amanda Baskfield, Billy Lu, Atena Farkhondeh, Kirill Gorshkov, Omid Motabar, Jeanette K. Beers, Guo-Kai Chen, Ji-Zhong Zou, Angela J. Espejo-Mojica ...Show all 18 authors... , Alexander Rodriguez-Lopez, Carlos Javier Almeciga-Diaz, Luis A. Barrera, Xun-Tian Jiang, Daniel S. Ory, Juan Jose Marugan, Wei Zheng; Show fewer authors
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
Cathrine Kolster Fog, Paola Zago, Erika Malini, Lukasz M. Solanko, Paolo Peruzzo, Claus Bornaes, Raffaella Magnoni, Arnela Mehmedbasic, Nikolaj Havnsoe Torp Petersen, Bruno Bembi, Johannes F.M.G. Aerts ...Show all 13 authors... , Andrea Dardis, Thomas Kirkegaard; Show fewer authors
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
Jason G. Fleischer, Roberta Schulte, Hsiao H. Tsai, Swati Tyagi, Arkaitz Ibarra, Maxim N. Shokhirev, Ling Huang, Martin W. Hetzer, Saket Navlakha;
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
Xiao-Gang Xu, Manisha Pradhan, Miao Xu, Yu-Shan Cheng, Jeanette K. Beers, Kaari Liisi Linask, Yong-Shun Lin, Wei Zheng, Ji-Zhong Zou;
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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