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Items: 19

1.
A zebrafish model of X-linked adrenoleukodystrophy recapitulates key disease features and demonstrates a developmental requirement for abcd1 in oligodendrocyte patterning and myelination
Lauren R. Strachan, Tamara J. Stevenson, Briana Freshner, Matthew D. Keefe, D. Miranda Bowles, Joshua L. Bonkowsky
Hum Mol Genet. 2017 Sep 15; 26(18): 3600–3614. Published online 2017 Jul 6. doi: 10.1093/hmg/ddx249
PMCID:
PMC5886093
AbstractArticlePDF–1.8M
2.
ABCD1 dysfunction alters white matter microvascular perfusion
Arne Lauer, Xiao Da, Mikkel Bo Hansen, Gregoire Boulouis, Yangming Ou, Xuezhu Cai, Afonso Liberato Celso Pedrotti, Jayashree Kalpathy-Cramer, Paul Caruso, Douglas L Hayden, Natalia Rost, Kim Mouridsen, Florian S Eichler, Bruce Rosen, Patricia L Musolino
Brain. 2017 Dec; 140(12): 3139–3152. Published online 2017 Nov 9. doi: 10.1093/brain/awx262
PMCID:
PMC5841142
AbstractArticlePDF–1.5M
3.
Adrenoleukodystrophy: a complex chromosomal rearrangement in the Xq28 red/green-color-pigment gene region indicates two possible gene localizations.
R Feil, P Aubourg, J Mosser, A M Douar, D Le Paslier, C Philippe, J L Mandel
Am J Hum Genet. 1991 Dec; 49(6): 1361–1371.
PMCID:
PMC1686466
SummaryPage BrowsePDF–2.2M
4.
Adrenoleukodystrophy: evidence for X linkage, inactivation, and selection favoring the mutant allele in heterozygous cells.
B R Migeon, H W Moser, A B Moser, J Axelman, D Sillence, R A Norum
Proc Natl Acad Sci U S A. 1981 Aug; 78(8): 5066–5070. doi: 10.1073/pnas.78.8.5066
PMCID:
PMC320333
SummaryPage BrowsePDF–1013K
5.
Spastic paraplegia as the predominant phenotype in a cohort of Chinese patients with adrenoleukodystrophy
Wen‐Jiao Luo, Qiao Wei, Hai‐Lin Dong, Yang‐Tian Yan, Mei‐Jiao Chen, Hong‐Fu Li
Mol Genet Genomic Med. 2020 Jan; 8(1): e1065. Published online 2019 Nov 27. doi: 10.1002/mgg3.1065
PMCID:
PMC6978395
AbstractArticlePDF–707K
6.
Clinical characteristics and phenotype distribution in 10 Chinese patients with X-linked adrenoleukodystrophy
Ming-Rui Jia, Wen-Zhen Wu, Chuan-Ming Li, Xiao-Hui Cai, Lin Zhang, Fang Yan, Chan Zhu, Ming-Hong Gu
Exp Ther Med. 2019 Sep; 18(3): 1945–1952. Published online 2019 Jul 24. doi: 10.3892/etm.2019.7804
PMCID:
PMC6704587
AbstractArticlePDF–890K
7.
Clinical utility in infants with suspected monogenic conditions through next‐generation sequencing
Sha Hong, Li Wang, Dongying Zhao, Yonghong Zhang, Yan Chen, Jintong Tan, Lili Liang, Tianwen Zhu
Mol Genet Genomic Med. 2019 Jun; 7(6): e684. Published online 2019 Apr 9. doi: 10.1002/mgg3.684
PMCID:
PMC6565546
AbstractArticlePDF–931K
8.
Next Generation Molecular Diagnosis of Hereditary Spastic Paraplegias: An Italian Cross-Sectional Study
Angelica D'Amore, Alessandra Tessa, Carlo Casali, Maria Teresa Dotti, Alessandro Filla, Gabriella Silvestri, Antonella Antenora, Guja Astrea, Melissa Barghigiani, Roberta Battini, Carla Battisti, Irene Bruno, Cristina Cereda, Clemente Dato, Giuseppe Di Iorio, Vincenzo Donadio, Monica Felicori, Nicola Fini, Chiara Fiorillo, Salvatore Gallone, Federica Gemignani, Gian Luigi Gigli, Claudio Graziano, Renzo Guerrini, Fiorella Gurrieri, Ariana Kariminejad, Maria Lieto, Charles Marques LourenḈo, Alessandro Malandrini, Paola Mandich, Christian Marcotulli, Francesco Mari, Luca Massacesi, Maria A. B. Melone, Andrea Mignarri, Roberta Milone, Olimpia Musumeci, Elena Pegoraro, Alessia Perna, Antonio Petrucci, Antonella Pini, Francesca Pochiero, Maria Roser Pons, Ivana Ricca, Salvatore Rossi, Marco Seri, Franco Stanzial, Francesca Tinelli, Antonio Toscano, Mariarosaria Valente, Antonio Federico, Anna Rubegni, Filippo Maria Santorelli
Front Neurol. 2018; 9: 981. Published online 2018 Dec 4. doi: 10.3389/fneur.2018.00981
PMCID:
PMC6289125
AbstractArticlePDF–1.2M
9.
Validation of Ion TorrentTM Inherited Disease Panel with the PGMTM Sequencing Platform for Rapid and Comprehensive Mutation Detection
Abeer E. Mustafa, Tariq Faquih, Batoul Baz, Rana Kattan, Abdulelah Al-Issa, Asma I. Tahir, Faiqa Imtiaz, Khushnooda Ramzan, Moeenaldeen Al-Sayed, Mohammed Alowain, Zuhair Al-Hassnan, Hamad Al-Zaidan, Mohamed Abouelhoda, Bashayer R. Al-Mubarak, Nada A. Al Tassan
Genes (Basel) 2018 May; 9(5): 267. Published online 2018 May 22. doi: 10.3390/genes9050267
PMCID:
PMC5977207
AbstractArticlePDF–424K
10.
Unusual brain images of a boy with adolescent cerebral X-linked adrenoleukodystrophy presenting with exhibitionism: A CARE-compliant case report
Feixia Zheng, Zhongdong Lin, Xiuyun Ye, Xulai Shi
Medicine (Baltimore) 2017 Dec; 96(51): e9481. Published online 2017 Dec 22. doi: 10.1097/MD.0000000000009481
PMCID:
PMC5758294
AbstractArticlePDF–426K
11.
Metallothionein 1G promotes the differentiation of HT-29 human colorectal cancer cells
Juan Martín Arriaga, Alicia Inés Bravo, José Mordoh, Michele Bianchini
Oncol Rep. 2017 May; 37(5): 2633–2651. Published online 2017 Apr 3. doi: 10.3892/or.2017.5547
PMCID:
PMC5428900
AbstractArticlePDF–1.1M
12.
The use of targeted genomic capture and massively parallel sequencing in diagnosis of Chinese Leukoencephalopathies
Xiaole Wang, Fang He, Fei Yin, Chao Chen, Liwen Wu, Lifen Yang, Jing Peng
Sci Rep. 2016; 6: 35936. Published online 2016 Oct 25. doi: 10.1038/srep35936
PMCID:
PMC5078786
AbstractArticlePDF–661K
13.
An ABCD1 Mutation (c.253dupC) Caused Diverse Phenotypes of Adrenoleukodystrophy in an Iranian Consanguineous Pedigree
Masoud Mehrpour, Faeze Gohari, Majid Zaki Dizaji, Ali Ahani, May Christine V. Malicdan, Babak Behnam
J Mol Genet Med. Author manuscript; available in PMC 2016 Aug 1.
Published in final edited form as: J Mol Genet Med. 2016 Jun; 10(2): 222. Published online 2016 Jun 19. doi: 10.4172/1747-0862.1000222
PMCID:
PMC4969076
AbstractArticlePDF–209K
14.
Functional Validation of ABCA3 as a Miltefosine Transporter in Human Macrophages: IMPACT ON INTRACELLULAR SURVIVAL OF LEISHMANIA (VIANNIA) PANAMENSIS
Luuk C. T. Dohmen, Adriana Navas, Deninson Alejandro Vargas, David J. Gregory, Anke Kip, Thomas P. C. Dorlo, Maria Adelaida Gomez
J Biol Chem. 2016 Apr 29; 291(18): 9638–9647. Published online 2016 Feb 22. doi: 10.1074/jbc.M115.688168
PMCID:
PMC4850301
AbstractArticlePDF–1.5M
15.
Oxidative Damage Compromises Energy Metabolism in the Axonal Degeneration Mouse Model of X-Adrenoleukodystrophy
Jorge Galino, Montserrat Ruiz, Stéphane Fourcade, Agatha Schlüter, Jone López-Erauskin, Cristina Guilera, Mariona Jove, Alba Naudi, Elena García-Arumí, Antoni L. Andreu, Anatoly A. Starkov, Reinald Pamplona, Isidre Ferrer, Manuel Portero-Otin, Aurora Pujol
Antioxid Redox Signal. 2011 Oct 15; 15(8): 2095–2107. doi: 10.1089/ars.2010.3877
PMCID:
PMC3166200
AbstractArticlePDF–822K
16.
Biochemistry and genetics of inherited disorders of peroxisomal fatty acid metabolism
Paul P. Van Veldhoven
J Lipid Res. 2010 Oct; 51(10): 2863–2895. doi: 10.1194/jlr.R005959
PMCID:
PMC2936746
AbstractArticlePDF–2.0M
17.
ABC AND SLC TRANSPORTER EXPRESSION AND POT SUBSTRATE CHRACTERIZATION ACROSS THE HUMAN CMEC/D3 BLOOD-BRAIN BARRIER CELL LINE
Stephen M. Carl, David J. Lindley, Pierre O. Couraud, Babette B. Weksler, Ignacio Romero, Stephanie A. Mowery, Gregory T. Knipp
Mol Pharm. Author manuscript; available in PMC 2011 Aug 1.
Published in final edited form as: Mol Pharm. 2010 Aug 2; 7(4): 1057–1068. doi: 10.1021/mp900178j
Correction in:
Mol Pharm. 2012 Dec 3; 9(12): 3606.
PMCID:
PMC2914114
AbstractArticlePDF–1.3M
18.
Interplay of Genes Regulated by Estrogen and Diindolylmethane in Breast Cancer Cell Lines
Laura Mulvey, Alamelu Chandrasekaran, Kai Liu, Sarah Lombardi, Xue-Ping Wang, Karen J Auborn, Leslie Goodwin
Mol Med. 2007 Jan-Feb; 13(1-2): 69–78. doi: 10.2119/2006-00038.Mulvey
PMCID:
PMC1869626
AbstractArticlePDF–1.1M
19.
Human-Specific Duplication and Mosaic Transcripts: The Recent Paralogous Structure of Chromosome 22
Jeffrey A.  Bailey, Amy M.  Yavor, Luigi  Viggiano, Doriana  Misceo, Juliann E.  Horvath, Nicoletta  Archidiacono, Stuart  Schwartz, Mariano  Rocchi, Evan E.  Eichler
Am J Hum Genet. 2002 Jan; 70(1): 83–100. Published online 2001 Nov 30. doi: 10.1086/338458
PMCID:
PMC419985
AbstractArticlePDF–970K

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