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Items: 15

1.
Regulation of the neuropathy-associated Pmp22 gene by a distal super-enhancer
Harrison Pantera, John J Moran, Holly A Hung, Evgenia Pak, Amalia Dutra, John Svaren
Hum Mol Genet. 2018 Aug 15; 27(16): 2830–2839. Published online 2018 May 16. doi: 10.1093/hmg/ddy191
PMCID:
PMC6077802
AbstractArticlePDF–813K
2.
Frequency of hereditary neuropathy with liability to pressure palsies (HNPP) due to 17p11.2 deletion in a Korean newborn population
Jong Eun Park, Seung-Jae Noh, Mijin Oh, Dae-Yeon Cho, So Young Kim, Chang-Seok Ki
Orphanet J Rare Dis. 2018; 13: 40. Published online 2018 Mar 15. doi: 10.1186/s13023-018-0779-5
PMCID:
PMC5856277
AbstractArticlePDF–621K
3.
Hereditary neuropathy with liability to pressure palsy (HNPP): report of a family with a new point mutation in PMP22 gene
Carlo Fusco, Carlotta Spagnoli, Grazia Gabriella Salerno, Elena Pavlidis, Daniele Frattini, Francesco Pisani
Ital J Pediatr. 2017; 43: 97. Published online 2017 Oct 27. doi: 10.1186/s13052-017-0414-4
PMCID:
PMC5658948
AbstractArticlePDF–471K
4.
Circulating Human Eosinophils Share a Similar Transcriptional Profile in Asthma and Other Hypereosinophilic Disorders
Cindy Barnig, Ghada Alsaleh, Nicolas Jung, Doulaye Dembélé, Nicodème Paul, Anh Poirot, Béatrice Uring-Lambert, Philippe Georgel, Fréderic de Blay, Seiamak Bahram
PLoS One. 2015; 10(11): e0141740. Published online 2015 Nov 2. doi: 10.1371/journal.pone.0141740
PMCID:
PMC4629890
AbstractArticlePDF–1.1M
5.
Epigenetic regulation of apoptosis and cell cycle regulatory genes in human colon carcinoma cells
Amy V. Paschall, Kebin Liu
Genom Data. 2015 Sep; 5: 189–191. Published online 2015 Jun 12. doi: 10.1016/j.gdata.2015.05.043
PMCID:
PMC4542010
AbstractArticlePDF–363K
6.
Comparison of the Transcriptional Profiles of Melanocytes from Dark and Light Skinned Individuals under Basal Conditions and Following Ultraviolet-B Irradiation
Saioa López, Isabel Smith-Zubiaga, Alicia García de Galdeano, María Dolores Boyano, Oscar García, Jesús Gardeazábal, Conrado Martinez-Cadenas, Neskuts Izagirre, Concepción de la Rúa, Santos Alonso
PLoS One. 2015; 10(8): e0134911. Published online 2015 Aug 5. doi: 10.1371/journal.pone.0134911
PMCID:
PMC4526690
AbstractArticlePDF–1.3M
7.
Global Comparative Gene Expression Analysis of Melanoma Patient Samples, Derived Cell Lines and Corresponding Tumor Xenografts
YAGUANG XI, ADAM RIKER, LALITA SHEVDE-SAMANT, RAJEEV SAMANT, CHRISTOPHER MORRIS, ELAINE GAVIN, OYSTEIN FODSTAD, JINGFANG JU
Cancer Genomics Proteomics. Author manuscript; available in PMC 2011 Nov 30.
Published in final edited form as: Cancer Genomics Proteomics. 2008 Jan-Feb; 5(1): 1–35.
PMCID:
PMC3226839
AbstractArticlePDF–2.0M
8.
Expression of ERa, its ERa?3 Splice Variant and ?-SYNUCLEIN in Ovarian Cancer: A Pilot Study
Karen T. Cheung, Siân E. Taylor, Imran I. Patel, Adam J. Bentley, Helen F. Stringfellow, Nigel J. Fullwood, Pierre L. Martin-Hirsch, Francis L. Martin
Br J Med Med Res. Author manuscript; available in PMC 2011 Nov 8.
Published in final edited form as: Br J Med Med Res. 2011 Oct; 1(4): 430–444. doi: 10.9734/bjmmr/2011/769
PMCID:
PMC3210401
AbstractArticlePDF–1.4M
9.
Copy number variation upstream of PMP22 in Charcot–Marie–Tooth disease
Marian AJ Weterman, Fred van Ruissen, Marit de Wissel, Lou Bordewijk, Johnny PA Samijn, W Ludo van der Pol, Farid Meggouh, Frank Baas
Eur J Hum Genet. 2010 Apr; 18(4): 421–428. Published online 2009 Nov 4. doi: 10.1038/ejhg.2009.186
PMCID:
PMC2987248
AbstractArticlePDF–460K
10.
Mendelian bases of myopathies, cardiomyopathies, and neuromyopathies
G Piluso, S Aurino, M Cacciottolo, F Del Vecchio Blanco, A Lancioni, IL Rotundo, A Torella, V Nigro
Acta Myol. 2010 Jul; 29(1): 1–20.
PMCID:
PMC2954584
AbstractArticlePDF–699K
11.
MFN2 point mutations occur in 3.4% of Charcot-Marie-Tooth families. An investigation of 232 Norwegian CMT families
Geir J Braathen, Jette C Sand, Ana Lobato, Helle Høyer, Michael B Russell
BMC Med Genet. 2010; 11: 48. Published online 2010 Mar 29. doi: 10.1186/1471-2350-11-48
PMCID:
PMC2859816
AbstractArticlePDF–504K
12.
An axon regeneration signature in a Charcot-Marie-Tooth Disease Type 2 patient
Francesca Cavalcanti, Thomas Kidd, Alessandra Patitucci, Paola Valentino, Francesco Bono, Rita Nisticò, Aldo Quattrone
J Neurogenet. Author manuscript; available in PMC 2009 Oct 8.
Published in final edited form as: J Neurogenet. 2009; 23(3): 324–328. doi: 10.1080/01677060802447585
PMCID:
PMC2716698
AbstractArticlePDF–47K
13.
Identification and analysis of miRNAs in human breast cancer and teratoma samples using deep sequencing
Sanne Nygaard, Anders Jacobsen, Morten Lindow, Jens Eriksen, Eva Balslev, Henrik Flyger, Niels Tolstrup, Søren Møller, Anders Krogh, Thomas Litman
BMC Med Genomics. 2009; 2: 35. Published online 2009 Jun 9. doi: 10.1186/1755-8794-2-35
PMCID:
PMC2702338
AbstractArticlePDF–627K
14.
Role of SP transcription factors in hormone-dependent modulation of genes in MCF-7 breast cancer cells: microarray and RNA interference studies
Fei Wu, Ivan Ivanov, Rui Xu, Stephen Safe
J Mol Endocrinol. Author manuscript; available in PMC 2010 Jan 1.
Published in final edited form as: J Mol Endocrinol. 2009 Jan; 42(1): 19–33. Published online 2008 Oct 24. doi: 10.1677/JME-08-0088
PMCID:
PMC2642616
AbstractArticlePDF–573K
15.
An abnormal mRNA produced by a novel PMP22 splice site mutation associated with HNPP
E Bellone, P Balestra, G Ribizzi, A Schenone, G Zocchi, E Di Maria, F Ajmar, P Mandich
J Neurol Neurosurg Psychiatry. 2006 Apr; 77(4): 538–540. Published online 2005 Sep 30. doi: 10.1136/jnnp.2005.075242
PMCID:
PMC2077485
AbstractArticlePDF–296K

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