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Items: 1 to 20 of 217

1.
The Absence of Calponin 2 in Rabbits Suggests Caution in Choosing Animal Models
Olesya Plazyo, Weilong Hao, Jian-Ping Jin
Front Bioeng Biotechnol. 2020; 8: 42. Published online 2020 Feb 28. doi: 10.3389/fbioe.2020.00042
PMCID:
PMC7058930
ArticlePDF–2.4M
2.
Recurrent heterozygous PAX6 missense variants cause severe bilateral microphthalmia via predictable effects on DNA–protein interaction
Kathleen A. Williamson, H. Nikki Hall, Liusaidh J. Owen, Benjamin J. Livesey, Isabel M. Hanson, G. G. W. Adams, Simon Bodek, Patrick Calvas, Bruce Castle, Michael Clarke, Alexander T. Deng, Patrick Edery, Richard Fisher, Gabriele Gillessen-Kaesbach, Elise Heon, Jane Hurst, Dragana Josifova, Birgit Lorenz, Shane McKee, Francoise Meire, Anthony T. Moore, Michael Parker, Charlotte M. Reiff, Jay Self, Edward S. Tobias, Joke B. G. M. Verheij, Marjolaine Willems, Denise Williams, Veronica van Heyningen, Joseph A. Marsh, David R. FitzPatrick
Genet Med. 2020; 22(3): 598–609. Published online 2019 Nov 8. doi: 10.1038/s41436-019-0685-9
PMCID:
PMC7056646
ArticlePDF–1.1M
3.
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
ArticlePDF–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
ArticlePDF–826K
5.
DNA methylation analysis of multiple imprinted DMRs in Sotos syndrome reveals IGF2‐DMR0 as a DNA methylation‐dependent, P0 promoter‐specific enhancer
Hidetaka Watanabe, Ken Higashimoto, Noriko Miyake, Sumiyo Morita, Takuro Horii, Mika Kimura, Takayuki Suzuki, Toshiyuki Maeda, Hidenori Hidaka, Saori Aoki, Hitomi Yatsuki, Nobuhiko Okamoto, Tetsuji Uemura, Izuho Hatada, Naomichi Matsumoto, Hidenobu Soejima
FASEB J. 2020 Jan; 34(1): 960–973. Published online 2019 Nov 28. doi: 10.1096/fj.201901757R
PMCID:
PMC6973060
ArticlePDF–1.2M
6.
Nationwide carrier detection and molecular characterization of β-thalassemia and hemoglobin E variants in Bangladeshi population
Farjana Akther Noor, Nusrat Sultana, Golam Sarower Bhuyan, Md Tarikul Islam, Mohabbat Hossain, Suprovath Kumar Sarker, Khaleda Islam, Waqar Ahmed Khan, Mujahida Rahman, Syeda Kashfi Qadri, Hossain Uddin Shekhar, Firdausi Qadri, Syed Saleheen Qadri, Kaiissar Mannoor
Orphanet J Rare Dis. 2020; 15: 15. Published online 2020 Jan 15. doi: 10.1186/s13023-020-1294-z
PMCID:
PMC6961315
ArticlePDF–1.0M
7.
Epigenetic Modification as a Regulatory Mechanism for Spatiotemporal Dynamics of ANO1 Expression in Salivary Glands
Yonghwan Shin, Sang-Woo Lee, Eun Namkoong, Woojin An, Jong-Ho Lee, Peter D Brown, Kyungpyo Park
Int J Mol Sci. 2019 Dec; 20(24): 6298. Published online 2019 Dec 13. doi: 10.3390/ijms20246298
PMCID:
PMC6940850
ArticlePDF–3.0M
8.
Cd60 (GTG > GAG)/Hb Cagliari mutation was found in scanning of β-thalassemia alleles from patients of East Kalimantan, Indonesia
ZaenalAdi Susanto, Wahyu Siswandari, Lantip Rujito
Mol Genet Metab Rep. 2020 Mar; 22: 100550. Published online 2019 Dec 20. doi: 10.1016/j.ymgmr.2019.100550
PMCID:
PMC6933185
ArticlePDF–544K
9.
Gene‐level genome‐wide association analysis of suicide attempt, a preliminary study in a psychiatric Mexican population
Thelma Beatriz González‐Castro, José Jaime Martínez‐Magaña, Carlos Alfonso Tovilla‐Zárate, Isela Esther Juárez‐Rojop, Emmanuel Sarmiento, Alma Delia Genis‐Mendoza, Humberto Nicolini
Mol Genet Genomic Med. 2019 Dec; 7(12): e983. Published online 2019 Oct 2. doi: 10.1002/mgg3.983
PMCID:
PMC6900393
ArticlePDF–604K
10.
Validation of an epigenetic field of susceptibility to detect significant prostate cancer from non-tumor biopsies
Bing Yang, Tyler Etheridge, Johnathon McCormick, Adam Schultz, Tariq A. Khemees, Nathan Damaschke, Glen Leverson, Kaitlin Woo, Geoffrey A. Sonn, Eric A. Klein, Mike Fumo, Wei Huang, David F. Jarrard
Clin Epigenetics. 2019; 11: 168. Published online 2019 Nov 28. doi: 10.1186/s13148-019-0771-5
PMCID:
PMC6883627
ArticlePDF–807K
11.
Effect of MALAT1 Polymorphisms on Papillary Thyroid Cancer in a Chinese Population
Jing Wen, Liang Chen, Hua Tian, Ji Li, Miao Zhang, Qing Cao, Wei Zhang, Shi Chen, Lixin Shi
J Cancer. 2019; 10(23): 5714–5721. Published online 2019 Sep 19. doi: 10.7150/jca.28887
PMCID:
PMC6879318
ArticlePDF–921K
12.
A digital collection of rare and endangered lemurs and other primates from the Duke Lemur Center
Gabriel S. Yapuncich, Addison D. Kemp, Darbi M. Griffith, Justin T. Gladman, Erin Ehmke, Doug M. Boyer
PLoS One. 2019; 14(11): e0219411. Published online 2019 Nov 26. doi: 10.1371/journal.pone.0219411
PMCID:
PMC6879151
ArticlePDF–3.0M
13.
Rare De Novo IGF2 Variant on the Paternal Allele in a Patient With Silver–Russell Syndrome
Chun-Ling Xia, Yuan Lyu, Chuang Li, Huan Li, Zhi-Tao Zhang, Shao-Wei Yin, Yan Mao, Wen Li, Ling-Yin Kong, Bo Liang, Hong-Kun Jiang, Jesse Li-Ling, Cai-Xia Liu, Jun Wei
Front Genet. 2019; 10: 1161. Published online 2019 Nov 15. doi: 10.3389/fgene.2019.01161
PMCID:
PMC6872539
ArticlePDF–1.4M
14.
Hb I: A α‐globin chain variant causing unexpected HbA1c results
Anping Xu, Jian Sun, Jie Li, Weidong Chen, Ruoyang Zheng, Zhonghou Han, Ling Ji
J Clin Lab Anal. 2019 Feb; 33(2): e22671. Published online 2018 Sep 17. doi: 10.1002/jcla.22671
PMCID:
PMC6818576
ArticlePDF–474K
15.
Rapid Screening for Deleted Form of β‐thalassemia by Real‐Time Quantitative PCR
Liang‐Yin Ke, Jan‐Gowth Chang, Chao‐Sung Chang, Li‐Ling Hsieh, Ta‐Chih Liu
J Clin Lab Anal. 2017 Jan; 31(1): e22019. Published online 2016 Aug 16. doi: 10.1002/jcla.22019
PMCID:
PMC6817179
ArticlePDF–277K
16.
Novel truncation mutations in MYRF cause autosomal dominant high hyperopia mapped to 11p12–q13.3
Xueshan Xiao, Wenmin Sun, Jiamin Ouyang, Shiqiang Li, Xiaoyun Jia, Zhiqun Tan, J. Fielding Hejtmancik, Qingjiong Zhang
Hum Genet. 2019; 138(10): 1077–1090. Published online 2019 Jun 6. doi: 10.1007/s00439-019-02039-z
PMCID:
PMC6745028
ArticlePDF–5.3M
17.
Increasing the low lipid phosphate phosphatase 1 activity in breast cancer cells decreases transcription by AP-1 and expressions of matrix metalloproteinases and cyclin D1/D3
Xiaoyun Tang, Todd P.W. McMullen, David N. Brindley
Theranostics. 2019; 9(21): 6129–6142. Published online 2019 Aug 14. doi: 10.7150/thno.37094
PMCID:
PMC6735510
ArticlePDF–2.3M
18.
Anoctamin 3: A Possible Link between Cluster Headache and Ca2+ Signaling
Caroline Ran, Carmen Fourier, Donia Arafa, Franziska Liesecke, Christina Sjöstrand, Elisabet Waldenlind, Anna Steinberg, Andrea Carmine Belin
Brain Sci. 2019 Aug; 9(8): 184. Published online 2019 Jul 30. doi: 10.3390/brainsci9080184
PMCID:
PMC6721385
ArticlePDF–786K
19.
Mutational Analysis of TYR, OCA2, and SLC45A2 Genes in Chinese Families with Oculocutaneous Albinism
Ye Lin, Xihui Chen, Ying Yang, Fengyu Che, Sijia Zhang, Lijuan Yuan, Yuanming Wu
Mol Genet Genomic Med. 2019 Jul; 7(7): e00687. Published online 2019 Jun 14. doi: 10.1002/mgg3.687
PMCID:
PMC6625147
ArticlePDF–1.0M
20.
Transcriptomic Hallmarks of Tumor Plasticity and Stromal Interactions in Brain Metastasis
Emily Wingrove, Zongzhi Z. Liu, Kiran D. Patel, Anna Arnal-Estapé, Wesley L. Cai, Mary-Ann Melnick, Katerina Politi, Cátia Monteiro, Lucía Zhu, Manuel Valiente, Harriet M. Kluger, Veronica L. Chiang, Don X. Nguyen
Cell Rep. Author manuscript; available in PMC 2019 Jun 25.
Published in final edited form as: Cell Rep. 2019 Apr 23; 27(4): 1277–1292.e7. doi: 10.1016/j.celrep.2019.03.085
PMCID:
PMC6592283
ArticlePDF–1.5M

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