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Items: 1 to 20 of 88

1.
Genotyping and Copy Number Analysis of Immunoglobin Heavy Chain Variable Genes Using Long Reads
Michael Ford, Ehsan Haghshenas, Corey T. Watson, S. Cenk Sahinalp
iScience. 2020 Mar 27; 23(3): 100883. Published online 2020 Feb 4. doi: 10.1016/j.isci.2020.100883
Correction in:
iScience. 2020 Sep 25; 23(9): 101508.
PMCID:
PMC7044747
AbstractArticlePDF–2.0M
2.
Systematic Nucleotide Exchange Analysis of ESTs From the Human Cancer Genome Project Report: Origins of 347 Unknown ESTs Indicate Putative Transcription of Non-Coding Genomic Regions
Ganesh Warthi, Pierre-Edouard Fournier, Hervé Seligmann
Front Genet. 2020; 11: 42. Published online 2020 Feb 11. doi: 10.3389/fgene.2020.00042
PMCID:
PMC7027195
AbstractArticlePDF–1.2M
3.
LncRNA DLX6‐AS1 increases the expression of HIF‐1α and promotes the malignant phenotypes of nasopharyngeal carcinoma cells via targeting MiR‐199a‐5p
Bin Yang, Lin Jia, Hui Ren, Caibao Jin, Qingrong Ren, Haiyuan Zhang, Desheng Hu, Hao Zhang, Liu Hu, Tao Xie
Mol Genet Genomic Med. 2020 Jan; 8(1): e1017. Published online 2019 Nov 29. doi: 10.1002/mgg3.1017
PMCID:
PMC6978402
AbstractArticlePDF–1.2M
4.
Abnormalities in the genes that encode Large Amino Acid Transporters increase the risk of Autism Spectrum Disorder
Lauren Cascio, Chin‐Fu Chen, Rini Pauly, Sujata Srikanth, Kelly Jones, Cindy D. Skinner, Roger E. Stevenson, Charles E. Schwartz, Luigi Boccuto
Mol Genet Genomic Med. 2020 Jan; 8(1): e1036. Published online 2019 Nov 7. doi: 10.1002/mgg3.1036
PMCID:
PMC6978257
AbstractArticlePDF–826K
5.
Lower S-adenosylmethionine levels and DNA hypomethylation of placental growth factor (PlGF) in placental tissue of early-onset preeclampsia-complicated pregnancies
Sandra G. Heil, Emilie M. Herzog, Pieter H. Griffioen, Bertrand van Zelst, Sten P. Willemsen, Yolanda B. de Rijke, Regine P. M. Steegers-Theunissen, Eric A. P. Steegers
PLoS One. 2019; 14(12): e0226969. Published online 2019 Dec 30. doi: 10.1371/journal.pone.0226969
PMCID:
PMC6936822
AbstractArticlePDF–541K
6.
Lnc-TCL6 is a potential biomarker for early diagnosis and grade in liver-cirrhosis patients
Lei-Jia Li, Xiao-Ying Wu, Si-Wei Tan, Zi-Jun Xie, Xue-Mei Pan, Shun-Wen Pan, Wu-Ri-Na Bai, Hai-Jiao Li, Hui-Ling Liu, Jie Jiang, Bin Wu
Gastroenterol Rep (Oxf) 2019 Dec; 7(6): 434–443. Published online 2019 Oct 11. doi: 10.1093/gastro/goz050
PMCID:
PMC6911997
AbstractArticlePDF–1.0M
7.
MicroRNA-300: A Transcellular Mediator in Exosome Regulates Melanoma Progression
Long Chen, Vega Windy Karisma, Huawen Liu, Li Zhong
Front Oncol. 2019; 9: 1005. Published online 2019 Oct 15. doi: 10.3389/fonc.2019.01005
PMCID:
PMC6803498
AbstractArticlePDF–3.0M
8.
Characterization of Intrastriatal Recombinant Adeno-Associated Virus-Mediated Gene Transfer of Human Tyrosine Hydroxylase and Human GTP-Cyclohydrolase I in a Rat Model of Parkinson’s Disease
R. J. Mandel, K. G. Rendahl, S. K. Spratt, R. O. Snyder, L. K. Cohen, S. E. Leff
J Neurosci. 1998 Jun 1; 18(11): 4271–4284. doi: 10.1523/JNEUROSCI.18-11-04271.1998
PMCID:
PMC6792786
AbstractArticlePDF–703K
9.
Multicistronic Lentiviral Vector-Mediated Striatal Gene Transfer of Aromatic l-Amino Acid Decarboxylase, Tyrosine Hydroxylase, and GTP Cyclohydrolase I Induces Sustained Transgene Expression, Dopamine Production, and Functional Improvement in a Rat Model of Parkinson's Disease.
Mimoun Azzouz, Enca Martin-Rendon, Robert D. Barber, Kyriacos A. Mitrophanous, Emma E. Carter, Jonathan B. Rohll, Susan M. Kingsman, Alan J. Kingsman, Nicholas D. Mazarakis
J Neurosci. 2002 Dec 1; 22(23): 10302–10312. doi: 10.1523/JNEUROSCI.22-23-10302.2002
PMCID:
PMC6758736
AbstractArticlePDF–1.2M
10.
Functional characterization of a SNP (F51S) found in human alpha 1‐antitrypsin
Hong‐Nhung Trinh, Sei‐Heon Jang, ChangWoo Lee
Mol Genet Genomic Med. 2019 Aug; 7(8): e819. Published online 2019 Jun 28. doi: 10.1002/mgg3.819
PMCID:
PMC6687665
AbstractArticlePDF–924K
11.
Association of NTCP polymorphisms with clinical outcome of hepatitis B infection in Thai individuals
Natthaya Chuaypen, Nongnaput Tuyapala, Nutcha Pinjaroen, Sunchai Payungporn, Pisit Tangkijvanich
BMC Med Genet. 2019; 20: 87. Published online 2019 May 22. doi: 10.1186/s12881-019-0823-x
PMCID:
PMC6532194
AbstractArticlePDF–625K
12.
Alpha-1 Antitrypsin Deficiency as an Incidental Finding in Clinical Genetic Testing
Craig P. Hersh, Edward J. Campbell, Lauren R. Scott, Benjamin A. Raby
Am J Respir Crit Care Med. 2019 Jan 15; 199(2): 246–248. Published online 2019 Jan 15. doi: 10.1164/rccm.201809-1679LE
PMCID:
PMC6353005
ArticlePDF–455K
13.
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
14.
V-ATPases and osteoclasts: ambiguous future of V-ATPases inhibitors in osteoporosis
Xiaohong Duan, Shaoqing Yang, Lei Zhang, Tielin Yang
Theranostics. 2018; 8(19): 5379–5399. Published online 2018 Oct 26. doi: 10.7150/thno.28391
PMCID:
PMC6276090
AbstractArticlePDF–1.2M
15.
Common and rare GCH1 variants are associated with Parkinson disease
Uladzislau Rudakou, Bouchra Ouled Amar Bencheikh, Jennifer A. Ruskey, Lynne Krohn, Sandra B. Laurent, Dan Spiegelman, Christopher Liong, Stanley Fahn, Cheryl Waters, Oury Monchi, Edward A. Fon, Yves Dauvilliers, Roy N. Alcalay, Nicolas Dupré, Ziv Gan-Or
Neurobiol Aging. Author manuscript; available in PMC 2020 Jan 1.
Published in final edited form as: Neurobiol Aging. 2019 Jan; 73: 231.e1–231.e6. Published online 2018 Sep 15. doi: 10.1016/j.neurobiolaging.2018.09.008
PMCID:
PMC6251729
AbstractArticlePDF–153K
16.
Nicotine induces endothelial dysfunction and promotes atherosclerosis via GTPCH1
Jingyuan Li, Shangming Liu, Guangqing Cao, Yuanyuan Sun, Weiqian Chen, Fajin Dong, Jinfeng Xu, Cheng Zhang, Wencheng Zhang
J Cell Mol Med. 2018 Nov; 22(11): 5406–5417. Published online 2018 Aug 9. doi: 10.1111/jcmm.13812
PMCID:
PMC6201367
AbstractArticlePDF–3.4M
17.
Genetic variants of GCH1 associate with chronic and acute crisis pain in African Americans with sickle cell disease
Nilanjana Sadhu, Ellie H. Jhun, Yingwei Yao, Ying He, Robert E. Molokie, Diana J. Wilkie, Zaijie Jim Wang
Exp Hematol. Author manuscript; available in PMC 2019 Oct 1.
Published in final edited form as: Exp Hematol. 2018 Oct; 66: 42–49. Published online 2018 Jul 19. doi: 10.1016/j.exphem.2018.07.004
PMCID:
PMC6175655
AbstractArticlePDF–653K
18.
Genetic Identification in Early Onset Parkinsonism among Norwegian Patients
Emil K. Gustavsson, Joanne Trinh, Marna McKenzie, Stephanie Bortnick, Maria Skaalum Petersen, Matthew J. Farrer, Jan O. Aasly
Mov Disord Clin Pract. 2017 Jul-Aug; 4(4): 499–508. Published online 2017 May 23. doi: 10.1002/mdc3.12501
PMCID:
PMC6174458
AbstractArticlePDF–357K
19.
Mutational Analysis of Oncogenic AKT1 Gene Associated with Breast Cancer Risk in the High Altitude Ecuadorian Mestizo Population
Andrés López-Cortés, Paola E. Leone, Byron Freire-Paspuel, Nathaly Arcos-Villacís, Patricia Guevara-Ramírez, Felipe Rosales, César Paz-y-Miño
Biomed Res Int. 2018; 2018: 7463832. Published online 2018 Jul 3. doi: 10.1155/2018/7463832
PMCID:
PMC6051326
AbstractArticlePDF–837K
20.
Genetic Variants Associated with Clinicopathological Profiles in Sporadic Breast Cancer in Sri Lankan Women
Nirmala Dushyanthi Sirisena, Adebowale Adeyemo, Anchala Ishani Kuruppu, Nilakshi Samaranayake, Vajira Harshadeva Weerabaddana Dissanayake
J Breast Cancer. 2018 Jun; 21(2): 165–172. Published online 2018 Jun 20. doi: 10.4048/jbc.2018.21.2.165
PMCID:
PMC6015979
AbstractArticlePDF–264K

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