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Items: 1 to 20 of 74

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.
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
9.
Sensitivity, advantages, limitations, and clinical utility of targeted next-generation sequencing panels for the diagnosis of selected lysosomal storage disorders
Diana Rojas Málaga, Ana Carolina Brusius-Facchin, Marina Siebert, Gabriela Pasqualim, Maria Luiza Saraiva-Pereira, Carolina F.M de Souza, Ida V.D. Schwartz, Ursula Matte, Roberto Giugliani
Genet Mol Biol. 2019; 42(1 Suppl 1): 197–206. Published online 2019 Apr 11. doi: 10.1590/1678-4685-GMB-2018-0092
PMCID:
PMC6687342
AbstractArticlePDF–1.0M
10.
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
11.
Clinical implementation of gene panel testing for lysosomal storage diseases
Alexander Gheldof, Sara Seneca, Katrien Stouffs, Willy Lissens, Anna Jansen, Hilde Laeremans, Patrick Verloo, An‐Sofie Schoonjans, Marije Meuwissen, Diana Barca, Geert Martens, Linda De Meirleir
Mol Genet Genomic Med. 2019 Feb; 7(2): e00527. Published online 2018 Dec 11. doi: 10.1002/mgg3.527
PMCID:
PMC6393649
AbstractArticlePDF–689K
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.
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
14.
Simulations of NPC1(NTD):NPC2 Protein Complex Reveal Cholesterol Transfer Pathways
Milan Hodošček, Nadia Elghobashi-Meinhardt
Int J Mol Sci. 2018 Sep; 19(9): 2623. Published online 2018 Sep 4. doi: 10.3390/ijms19092623
PMCID:
PMC6163316
AbstractArticlePDF–2.6M
15.
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
16.
Niemann-Pick Type C2 Protein Regulates Free Cholesterol Accumulation and Influences Hepatic Stellate Cell Proliferation and Mitochondrial Respiration Function
Yuan-Hsi Wang, Yuh-Ching Twu, Chung-Kwe Wang, Fu-Zhen Lin, Chun-Ya Lee, Yi-Jen Liao
Int J Mol Sci. 2018 Jun; 19(6): 1678. Published online 2018 Jun 5. doi: 10.3390/ijms19061678
PMCID:
PMC6032364
AbstractArticlePDF–1.9M
17.
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
18.
Evaluating droplet digital PCR for the quantification of human genomic DNA: converting copies per nanoliter to nanograms nuclear DNA per microliter
David L. Duewer, Margaret C. Kline, Erica L. Romsos, Blaza Toman
Anal Bioanal Chem. Author manuscript; available in PMC 2019 May 1.
Published in final edited form as: Anal Bioanal Chem. 2018 May; 410(12): 2879–2887. Published online 2018 Mar 19. doi: 10.1007/s00216-018-0982-1
PMCID:
PMC5996397
AbstractArticlePDF–490K
19.
High-content screen for modifiers of Niemann-Pick type C disease in patient cells
Emily K Pugach, McKenna Feltes, Randal J Kaufman, Daniel S Ory, Anne G Bang
Hum Mol Genet. 2018 Jun 15; 27(12): 2101–2112. Published online 2018 Apr 12. doi: 10.1093/hmg/ddy117
PMCID:
PMC5985738
AbstractArticlePDF–1.0M
20.
Glycosylation of Human IgA Directly Inhibits Influenza A and Other Sialic-Acid-Binding Viruses
Michael A. Maurer, Larissa Meyer, Matteo Bianchi, Hannah L. Turner, Ngoc P.L. Le, Marco Steck, Arkadiusz Wyrzucki, Vanessa Orlowski, Andrew B. Ward, Max Crispin, Lars Hangartner
Cell Rep. 2018 Apr 3; 23(1): 90–99. Published online 2018 Apr 5. doi: 10.1016/j.celrep.2018.03.027
PMCID:
PMC5905402
AbstractArticlePDF–1.8M

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