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Items: 1 to 20 of 150

1.
Molecular and clinical studies in 107 Noonan syndrome affected individuals with PTPN11 mutations
Jeevana Praharsha Athota, Meenakshi Bhat, Sheela Nampoothiri, Kalpana Gowrishankar, Sanjeeva Ghanti Narayanachar, Vinuth Puttamallesh, Mohammed Oomer Farooque, Swathi Shetty
BMC Med Genet. 2020; 21: 50. Published online 2020 Mar 12. doi: 10.1186/s12881-020-0986-5
PMCID:
PMC7068896
AbstractArticlePDF–3.3M
2.
High Mobility Group A (HMGA): Chromatin Nodes Controlled by a Knotty miRNA Network
Riccardo Sgarra, Silvia Pegoraro, Daniela D’Angelo, Gloria Ros, Rossella Zanin, Michela Sgubin, Sara Petrosino, Sabrina Battista, Guidalberto Manfioletti
Int J Mol Sci. 2020 Feb; 21(3): 717. Published online 2020 Jan 22. doi: 10.3390/ijms21030717
PMCID:
PMC7038092
AbstractArticlePDF–2.5M
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
AbstractArticlePDF–1.2M
4.
Clinical and Molecular Characterization and Discovery of Novel Genetic Mutations of Chinese Patients with COL2A1-related Dysplasia
Yang Xu, Li Li, Chun Wang, Hua Yue, Hao Zhang, Jiemei Gu, Weiwei Hu, Lianyong Liu, Zhenlin Zhang
Int J Biol Sci. 2020; 16(5): 859–868. Published online 2020 Jan 16. doi: 10.7150/ijbs.38811
PMCID:
PMC7019135
AbstractArticlePDF–1.6M
5.
A Look at Genetic Linkage between Clozapine-induced Agranulocytosis, Malignant Hyperthermia, Neuroleptic Malignant Syndrome, and Statin-induced Myopathy
Nitin Pothen, Shveta Kansal, Theodor Rais, Stacy Doumas, Ramon Solhkhah
Innov Clin Neurosci. 2019 Nov 1; 16(11-12): 28–31. Published online Nov-Dec 2019.
PMCID:
PMC7006864
AbstractArticlePDF–127K
6.
Assessment of the clinical utility of four NGS panels in myeloid malignancies. Suggestions for NGS panel choice or design
Almudena Aguilera-Diaz, Iria Vazquez, Beñat Ariceta, Amagoia Mañú, Zuriñe Blasco-Iturri, Sara Palomino-Echeverría, María José Larrayoz, Ramón García-Sanz, María Isabel Prieto-Conde, María del Carmen Chillón, Ana Alfonso-Pierola, Felipe Prosper, Marta Fernandez-Mercado, María José Calasanz
PLoS One. 2020; 15(1): e0227986. Published online 2020 Jan 24. doi: 10.1371/journal.pone.0227986
PMCID:
PMC6980571
AbstractArticlePDF–2.0M
7.
Candidate modifier genes for immune function in 22q11.2 deletion syndrome
Catherina T. Pinnaro, Travis Henry, Heather J. Major, Mrutyunjaya Parida, Lucy E. DesJardin, John R. Manak, Benjamin W. Darbro
Mol Genet Genomic Med. 2020 Jan; 8(1): e1057. Published online 2019 Dec 12. doi: 10.1002/mgg3.1057
PMCID:
PMC6978229
AbstractArticlePDF–761K
8.
Complete Multilineage CD4 Expression Defect Associated With Warts Due to an Inherited Homozygous CD4 Gene Mutation
Rosa Anita Fernandes, Martin Perez-Andres, Elena Blanco, Maria Jara-Acevedo, Ignacio Criado, Julia Almeida, Vitor Botafogo, Ines Coutinho, Artur Paiva, Jacques J. M. van Dongen, Alberto Orfao, Emilia Faria
Front Immunol. 2019; 10: 2502. Published online 2019 Nov 8. doi: 10.3389/fimmu.2019.02502
PMCID:
PMC6856949
AbstractArticlePDF–1.7M
9.
IL-6 Impairs the Activity of Vitamin D3 in the Regulation of Epithelial-Mesenchymal Transition in Triple Negative Breast Cancer
Mohamed A. Abdel-Mohsen, Samar. M Abo-Deif, Lobna A. Abou-Shamaa
Asian Pac J Cancer Prev. 2019; 20(8): 2267–2273. doi: 10.31557/APJCP.2019.20.8.2267
PMCID:
PMC6852800
AbstractArticlePDF–780K
10.
Frequency of Germline Mutations in Cancer Susceptibility Genes in Malignant Mesothelioma
Vasiliki Panou, Meghana Gadiraju, Arthur Wolin, Caroline M. Weipert, Emily Skarda, Aliya N. Husain, Jyoti D. Patel, Buerkley Rose, Shannon R. Zhang, Madison Weatherly, Viswateja Nelakuditi, Amy Knight Johnson, Maria Helgeson, David Fischer, Arpita Desai, Nanna Sulai, Lauren Ritterhouse, Oluf D. Røe, Kiran K. Turaga, Dezheng Huo, Jeremy Segal, Sabah Kadri, Zejuan Li, Hedy L. Kindler, Jane E. Churpek
J Clin Oncol. 2018 Oct 1; 36(28): 2863–2871. Published online 2018 Aug 16. doi: 10.1200/JCO.2018.78.5204
PMCID:
PMC6804864
AbstractArticlePDF–709K
11.
Extensive disruption of protein interactions by genetic variants across the allele frequency spectrum in human populations
Robert Fragoza, Jishnu Das, Shayne D. Wierbowski, Jin Liang, Tina N. Tran, Siqi Liang, Juan F. Beltran, Christen A. Rivera-Erick, Kaixiong Ye, Ting-Yi Wang, Li Yao, Matthew Mort, Peter D. Stenson, David N. Cooper, Xiaomu Wei, Alon Keinan, John C. Schimenti, Andrew G. Clark, Haiyuan Yu
Nat Commun. 2019; 10: 4141. Published online 2019 Sep 12. doi: 10.1038/s41467-019-11959-3
PMCID:
PMC6742646
AbstractArticlePDF–1.2M
12.
Different gene expression profiles in subcutaneous & visceral adipose tissues from Mexican patients with obesity
María D. Ronquillo, Alla Mellnyk, Noemí Cárdenas-Rodríguez, Emmanuel Martínez, David A. Comoto, Liliana Carmona-Aparicio, Norma E. Herrera, Eleazar Lara, Armando Pereyra, Esaú Floriano-Sánchez
Indian J Med Res. 2019 May; 149(5): 616–626. doi: 10.4103/ijmr.IJMR_1165_17
PMCID:
PMC6702687
AbstractArticlePDF–1.3M
13.
A clinical survey of mosaic single nucleotide variants in disease-causing genes detected by exome sequencing
Ye Cao, Mari J. Tokita, Edward S. Chen, Rajarshi Ghosh, Tiansheng Chen, Yanming Feng, Elizabeth Gorman, Federica Gibellini, Patricia A. Ward, Alicia Braxton, Xia Wang, Linyan Meng, Rui Xiao, Weimin Bi, Fan Xia, Christine M. Eng, Yaping Yang, Tomasz Gambin, Chad Shaw, Pengfei Liu, Pawel Stankiewicz
Genome Med. 2019; 11: 48. Published online 2019 Jul 26. doi: 10.1186/s13073-019-0658-2
PMCID:
PMC6660700
AbstractArticlePDF–980K
14.
Relationship between ALDH2 genotype and in-stent restenosis in Chinese Han patients after percutaneous coronary intervention
Lizhi Lv, Weijie Ye, Peiyuan Song, Yubin Chen, Jing Yang, Congmin Zhang, Xiaoping Chen, Fanyan Luo
BMC Cardiovasc Disord. 2019; 19: 176. Published online 2019 Jul 25. doi: 10.1186/s12872-019-1161-9
PMCID:
PMC6659264
AbstractArticlePDF–1.3M
15.
Loss of function mutation in the P2X7, a ligand-gated ion channel gene associated with hypertrophic cardiomyopathy
Amitabh Biswas, Ali Raza, Soumi Das, Mitali Kapoor, Rijith Jayarajan, Ankit Verma, Karuthedath Vellarikkal Shamsudheen, Benrithung Murry, Sandeep Seth, Balram Bhargava, Vinod Scaria, Sridhar Sivasubbu, Vadlamudi Raghavendra Rao
Purinergic Signal. 2019 Jun; 15(2): 205–210. Published online 2019 May 31. doi: 10.1007/s11302-019-09660-7
PMCID:
PMC6635509
AbstractArticlePDF–2.1M
16.
Evaluation of Methods for the Extraction of Microbial DNA From Vaginal Swabs Used for Microbiome Studies
Valentina Mattei, Selvasankar Murugesan, Muna Al Hashmi, Rebecca Mathew, Nicola James, Parul Singh, Manoj Kumar, Arun Prasath Lakshmanan, Annalisa Terranegra, Souhaila Al Khodor, Sara Tomei
Front Cell Infect Microbiol. 2019; 9: 197. Published online 2019 Jun 6. doi: 10.3389/fcimb.2019.00197
PMCID:
PMC6563847
AbstractArticlePDF–1.4M
17.
Quantifying the potential of functional evidence to reclassify variants of uncertain significance in the categorical and Bayesian interpretation frameworks
Sarah E. Brnich, Edgar A. Rivera-Muñoz, Jonathan S. Berg
Hum Mutat. Author manuscript; available in PMC 2019 Nov 1.
Published in final edited form as: Hum Mutat. 2018 Nov; 39(11): 1531–1541. Published online 2018 Sep 5. doi: 10.1002/humu.23609
PMCID:
PMC6548460
AbstractArticlePDF–1.8M
18.
Comprehensive Analysis of Rare Variants of 101 Autism-Linked Genes in a Hungarian Cohort of Autism Spectrum Disorder Patients
Péter Balicza, Noémi Ágnes Varga, Bence Bolgár, Klára Pentelényi, Renáta Bencsik, Anikó Gál, András Gézsi, Csilla Prekop, Viktor Molnár, Mária Judit Molnár
Front Genet. 2019; 10: 434. Published online 2019 May 8. doi: 10.3389/fgene.2019.00434
PMCID:
PMC6517558
AbstractArticlePDF–3.0M
19.
Genetic analysis of pharmacogenomic VIP variants in the Blang population from Yunnan Province of China
Chan Zhang, Weiwei Guo, Yujing Cheng, Qi Li, Xin Yang, Run Dai, Linhao Zhu, Wanlu Chen
Mol Genet Genomic Med. 2019 May; 7(5): e574. Published online 2019 Apr 5. doi: 10.1002/mgg3.574
PMCID:
PMC6503013
AbstractArticlePDF–1.2M
20.
Inactivation of the tyrosine phosphatase SHP-2 drives vascular dysfunction in Sepsis
Yvonn Heun, Joachim Pircher, Thomas Czermak, Philipp Bluem, Georg Hupel, Monica Bohmer, Bjoern F. Kraemer, Kristin Pogoda, Alexander Pfeifer, Markus Woernle, Andrea Ribeiro, Max Hübner, Simone Kreth, Ralf A. Claus, Sebastian Weis, Luisa Ungelenk, Florian Krötz, Ulrich Pohl, Hanna Mannell
EBioMedicine. 2019 Apr; 42: 120–132. Published online 2019 Mar 21. doi: 10.1016/j.ebiom.2019.03.034
PMCID:
PMC6491420
AbstractArticlePDF–2.4M

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