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1069 result(s) for 'study Protocol' within BMC Medical Genomics

Page 12 of 22

  1. Endometrial cancer (EMCA) is the fifth most common cancer among women in the world. Identification of potentially pathogenic germline variants from individuals with EMCA will help characterize genetic features...

    Authors: Jason E. Miller, Raghu P. Metpally, Thomas N. Person, Sarathbabu Krishnamurthy, Venkata Ramesh Dasari, Manu Shivakumar, Daniel R. Lavage, Adam M. Cook, David J. Carey, Marylyn D. Ritchie, Dokyoon Kim and Radhika Gogoi
    Citation: BMC Medical Genomics 2019 12:59

    The Correction to this article has been published in BMC Medical Genomics 2019 12:65

  2. To explore long-non-coding RNA (lncRNA), microRNA (miRNA) and messenger RNA (mRNA) expression profiles and their biological functions in the urine samples in calcium oxalate (CaOx) patients.

    Authors: Xiongfa Liang, Yongchang Lai, Weizhou Wu, Dong Chen, Fangling Zhong, Jian Huang, Tao Zeng, Xiaolu Duan, Yapeng Huang, Shike Zhang, Shujue Li and Wenqi Wu
    Citation: BMC Medical Genomics 2019 12:57
  3. Prompted by the revolution in high-throughput sequencing and its potential impact for treating cancer patients, we initiated a clinical research study to compare the ability of different sequencing assays and ...

    Authors: Mayu O. Frank, Takahiko Koyama, Kahn Rhrissorrakrai, Nicolas Robine, Filippo Utro, Anne-Katrin Emde, Bo-Juen Chen, Kanika Arora, Minita Shah, Heather Geiger, Vanessa Felice, Esra Dikoglu, Sadia Rahman, Alice Fang, Vladimir Vacic, Ewa A. Bergmann…
    Citation: BMC Medical Genomics 2019 12:56

    The Correction to this article has been published in BMC Medical Genomics 2019 12:114

  4. Preterm birth (PTB), defined as infant delivery before 37 weeks of completed gestation, results from the interaction of both genetic and environmental components and constitutes a complex multifactorial syndro...

    Authors: Silvana Pereyra, Claudio Sosa, Bernardo Bertoni and Rossana Sapiro
    Citation: BMC Medical Genomics 2019 12:53
  5. Preimplantation genetic testing (PGT) has already been applied in chromosomally balanced translocation carriers to improve the clinical outcome of assisted reproduction. However, traditional methods could not ...

    Authors: Shuo Zhang, Dingding Zhao, Jun Zhang, Yan Mao, Lingyin Kong, Yueping Zhang, Bo Liang, Xiaoxi Sun and Congjian Xu
    Citation: BMC Medical Genomics 2019 12:52
  6. Age-related macular degeneration (AMD) is a major cause of blindness in developed countries, and the molecular pathogenesis of AMD is poorly understood. A large body of evidence has corroborated the key role o...

    Authors: Darya V. Telegina, Nataliya G. Kolosova and Oyuna S. Kozhevnikova
    Citation: BMC Medical Genomics 2019 12(Suppl 2):48

    This article is part of a Supplement: Volume 12 Supplement 2

  7. Cytotoxic activity of T- and NK-cells can be efficiently retargeted against cancer cells using chimeric antigen receptors (CARs) and rTCRs. In the context of solid cancers, use of armored CAR T- and NK cells s...

    Authors: Sergey V. Kulemzin, Daria A. Matvienko, Artur H. Sabirov, Arpine M. Sokratyan, Daria S. Chernikova, Tatyana N. Belovezhets, Anton N. Chikaev, Aleksandr V. Taranin and Andrey A. Gorchakov
    Citation: BMC Medical Genomics 2019 12(Suppl 2):44

    This article is part of a Supplement: Volume 12 Supplement 2

  8. Mitochondria play a central role in the regulation of energy metabolism, and the biogenesis of mitochondria is enhanced by the action of nitric oxide (NO), which is the key signaling molecule in the regulation...

    Authors: Larisa Litvinova, Pavel Zatolokin, Maria Vulf, Ilia Mazunin and Daria Skuratovskaia
    Citation: BMC Medical Genomics 2019 12(Suppl 2):41

    This article is part of a Supplement: Volume 12 Supplement 2

  9. Inflammatory response plays a key role in the development of insulin resistance (IR) in obesity. Oxidative stress triggers the replication of the mitochondrial genome and division of the organelle. The purpose...

    Authors: Daria Skuratovskaia, Pavel Zatolokin, Maria Vulf, Ilia Mazunin and Larisa Litvinova
    Citation: BMC Medical Genomics 2019 12(Suppl 2):40

    This article is part of a Supplement: Volume 12 Supplement 2

  10. Anlotinib has been demonstrated its anti-tumor efficacy on non-small cell lung cancer (NSCLC) in clinical trials at 3rd line. However, anlotinib resistance occurs during its administration, and the underlying ...

    Authors: Jun Lu, Wei Xu, Jie Qian, Shuyuan Wang, Bo Zhang, Lele Zhang, Rong Qiao, Minjuan Hu, Yiming Zhao, Xiaodong Zhao and Baohui Han
    Citation: BMC Medical Genomics 2019 12(Suppl 2):38

    This article is part of a Supplement: Volume 12 Supplement 2

    The Correction to this article has been published in BMC Medical Genomics 2022 15:155

  11. Approximately 5–20% of chronic myeloid leukemia (CML) patients demonstrate primary resistance or intolerance to imatinib. None of the existing predictive scores gives a good prognosis of TKI efficacy. Gene pol...

    Authors: Alexander V. Lavrov, Ekaterina Yu. Chelysheva, Elmira P. Adilgereeva, Oleg A. Shukhov, Svetlana A. Smirnikhina, Konstantin S. Kochergin-Nikitsky, Valentina D. Yakushina, Grigory A. Tsaur, Sergey V. Mordanov, Anna G. Turkina and Sergey I. Kutsev
    Citation: BMC Medical Genomics 2019 12(Suppl 2):37

    This article is part of a Supplement: Volume 12 Supplement 2

  12. The knowledge about specific mechanisms generating TP53 dysfunction in diffuse large B-cell lymphoma is limited. The aim of the current study was to comprehensively explore TP53 gene variability resulting from so...

    Authors: Elena N. Voropaeva, Tatyana I. Pospelova, Mikhail I. Voevoda, Vladimir N. Maksimov, Yuriy L. Orlov and Olga B. Seregina
    Citation: BMC Medical Genomics 2019 12(Suppl 2):35

    This article is part of a Supplement: Volume 12 Supplement 2

  13. The onset of acute Graft-versus-Host Disease (aGvHD) has been correlated with the gut microbiota (GM) composition, but experimental observations are still few, mainly involving cohorts of adult patients. In th...

    Authors: Elena Biagi, Daniele Zama, Simone Rampelli, Silvia Turroni, Patrizia Brigidi, Clarissa Consolandi, Marco Severgnini, Eleonora Picotti, Pietro Gasperini, Pietro Merli, Nunzia Decembrino, Marco Zecca, Simone Cesaro, Maura Faraci, Arcangelo Prete, Franco Locatelli…
    Citation: BMC Medical Genomics 2019 12:49
  14. Cardiomyopathies affect more than 0.5% of the general population. They are associated with high risk of sudden cardiac death, which can result from either heart failure or electrical abnormalities. Although di...

    Authors: Marwan M. Refaat, Sylvana Hassanieh, Jad A. Ballout, Patrick Zakka, Mostafa Hotait, Athar Khalil, Fadi Bitar, Mariam Arabi, Samir Arnaout, Hadi Skouri, Antoine Abchee, Bernard Abi-Saleh, Maurice Khoury, Andreas Massouras and Georges Nemer
    Citation: BMC Medical Genomics 2019 12:33
  15. The Human Epidermal Growth Factor Receptor (EGFR/HER1) can be activated by several ligands including Transforming Growth Factor alpha (TGF-α) and Epidermal Growth Factor (EGF). Following ligand binding, EGFR h...

    Authors: Miguel Nava, Pranabananda Dutta, Nathan R. Zemke, Robin Farias-Eisner, Jaydutt V. Vadgama and Yanyuan Wu
    Citation: BMC Medical Genomics 2019 12:32
  16. Non-random chromosome positioning has been observed in the nuclei of several different tissue types, including human spermatozoa. The nuclear arrangement of chromosomes can be altered in men with decreased sem...

    Authors: Marta Olszewska, Ewa Wiland, Nataliya Huleyuk, Monika Fraczek, Alina T. Midro, Danuta Zastavna and Maciej Kurpisz
    Citation: BMC Medical Genomics 2019 12:30
  17. Glucocorticoids act on the glucocorticoid receptor (GR; NR3C1) to resolve inflammation and, as inhaled corticosteroids (ICS), are the cornerstone of treatment for asthma. However, reduced efficacy in severe di...

    Authors: Mahmoud M. Mostafa, Christopher F. Rider, Suharsh Shah, Suzanne L. Traves, Paul M. K. Gordon, Anna Miller-Larsson, Richard Leigh and Robert Newton
    Citation: BMC Medical Genomics 2019 12:29
  18. Cardiovascular disease, diabetes, and kidney disease are among the leading causes of death and disability worldwide. However, knowledge of genetic determinants of those diseases in African Americans remains li...

    Authors: Xueyan Zhao, Xin Geng, Vinodh Srinivasasainagendra, Ninad Chaudhary, Suzanne Judd, Virginia Wadley, Orlando M. Gutiérrez, Henry Wang, Ethan M. Lange, Leslie A. Lange, Daniel Woo, Frederick W. Unverzagt, Monika Safford, Mary Cushman, Nita Limdi, Rakale Quarells…
    Citation: BMC Medical Genomics 2019 12(Suppl 1):26

    This article is part of a Supplement: Volume 12 Supplement 1

  19. Prognostic signatures are vital to precision medicine. However, development of somatic mutation prognostic signatures for cancers remains a challenge. In this study we developed a novel method for discovering ...

    Authors: Mark Menor, Yong Zhu, Yu Wang, Jicai Zhang, Bin Jiang and Youping Deng
    Citation: BMC Medical Genomics 2019 12(Suppl 1):24

    This article is part of a Supplement: Volume 12 Supplement 1

  20. At least 90% of human genes are alternatively spliced. Alternative splicing has an important function regulating gene expression and miss-splicing can contribute to risk for human diseases, including Alzheimer...

    Authors: Seonggyun Han, Jason E. Miller, Seyoun Byun, Dokyoon Kim, Shannon L. Risacher, Andrew J. Saykin, Younghee Lee and Kwangsik Nho
    Citation: BMC Medical Genomics 2019 12(Suppl 1):13

    This article is part of a Supplement: Volume 12 Supplement 1

  21. Microtia-atresia is characterized by abnormalities of the auricle (microtia) and aplasia or hypoplasia of the external auditory canal, often associated with middle ear abnormalities. To date, no causal genetic...

    Authors: Pu Wang, Yibei Wang, Xinmiao Fan, Yaping Liu, Yue Fan, Tao Liu, Chongjian Chen, Shuyang Zhang and Xiaowei Chen
    Citation: BMC Medical Genomics 2019 12:28
  22. The past few decades have witnessed a tremendous development in the field of genetics. The implementation of next generation sequencing (NGS) technologies revolutionized the field of molecular biology and made...

    Authors: Nadine Jalkh, Sandra Corbani, Zahraa Haidar, Nadine Hamdan, Elias Farah, Joelle Abou Ghoch, Rouba Ghosn, Nabiha Salem, Ali Fawaz, Claudia Djambas Khayat, Mariam Rajab, Chebl Mourani, Adib Moukarzel, Simon Rassi, Bernard Gerbaka, Hicham Mansour…
    Citation: BMC Medical Genomics 2019 12:11
  23. It has been found that chronic rhinosinusitis (CRS) increases the risk of developing nasopharyngeal carcinoma (NPC). CRS can be caused by gastro-oesophageal reflux (GOR) that may reach nasopharynx. The major c...

    Authors: Sang-Nee Tan and Sai-Peng Sim
    Citation: BMC Medical Genomics 2019 12:9
  24. Exosomes are a subset of extracellular vesicles 30–200 nm in diameter secreted from cells, which contain functional mRNAs and microRNAs. Cerebrospinal fluid (CSF) is the primary source for liquid biopsy to exa...

    Authors: Kentaro Otake, Hidenori Kamiguchi and Yoshihiko Hirozane
    Citation: BMC Medical Genomics 2019 12:7
  25. Two interstitial microdeletions Xp11.22 including the CLCN5 and SHROOM4 genes were recently reported in a male individual affected with Dent disease, short stature, psychomotor delay and minor facial anomalies. D...

    Authors: Magdalena Danyel, Eun Kyung Suk, Vera Raile, Jutta Gellermann, Alexej Knaus and Denise Horn
    Citation: BMC Medical Genomics 2019 12:6
  26. We assessed the stability of BAFF, interferon, plasma cell and LDG neutrophil gene expression signatures over time, and whether changes in expression coincided with changes in SLE disease activity.

    Authors: Michelle Petri, Wei Fu, Ann Ranger, Norm Allaire, Patrick Cullen, Laurence S. Magder and Yuji Zhang
    Citation: BMC Medical Genomics 2019 12:4
  27. In the absence of antiretroviral treatments (ARTs), a small group of individuals infected with HIV, including long-term non-progressors (LTNPs) who maintain high levels of CD4+ T cells for more than 7–10 years...

    Authors: Sun Young Lee, Yong Kwang Park, Cheol-Hee Yoon, Kisoon Kim and Kyung-Chang Kim
    Citation: BMC Medical Genomics 2019 12:3
  28. The etiology and mechanism of spontaneous preterm birth (sPTB) are still unclear. Accumulating evidence has documented that various environmental exposure scenarios may cause maternal and fetal epigenetic chan...

    Authors: Xi-Meng Wang, Fu-Ying Tian, Li-Jun Fan, Chuan-Bo Xie, Zhong-Zheng Niu and Wei-Qing Chen
    Citation: BMC Medical Genomics 2019 12:1
  29. There is a clear need for assays that can predict the risk of metastatic prostate cancer following curative procedures. Importantly these assays must be analytically robust in order to provide quality data for...

    Authors: Paul Wallace Medlow, Christopher James Steele, Andrena Marie McCavigan, Wesley Reardon, Christopher Michael Brown, Shauna May Lambe, Felipe Augusto Andre Ishiy, Steven Michael Walker, Gemma Elizabeth Logan, Olaide Yaqeen Raji, Viktor Berge, Betina Katz, Elaine Williamson Kay, Katherine Sheehan, Ronald William Watson, Denis Paul Harkin…
    Citation: BMC Medical Genomics 2018 11:125
  30. The etiology of more than half of all patients with X-linked intellectual disability remains elusive, despite array-based comparative genomic hybridization, whole exome or genome sequencing. Since short read m...

    Authors: Alena Zablotskaya, Hilde Van Esch, Kevin J. Verstrepen, Guy Froyen and Joris R. Vermeesch
    Citation: BMC Medical Genomics 2018 11:123
  31. Chromosome translocations are a hallmark of B-cell precursor acute lymphoblastic leukemia (BCP-ALL). Additional genomic aberrations are also crucial in both BCP-ALL leukemogenesis and treatment management. Her...

    Authors: Thayana Conceição Barbosa, Bruno Almeida Lopes, Caroline Barbieri Blunck, Marcela Braga Mansur, Adriana Vanessa Santini Deyl, Mariana Emerenciano and Maria S. Pombo-de-Oliveira
    Citation: BMC Medical Genomics 2018 11:122
  32. Biliary atresia (BA), a fibrosing disorder of the developing biliary tract leading to liver failure in infancy, has an elevated incidence in indigenous New Zealand (NZ) Māori. We investigated a high rate of BA...

    Authors: Sophia R. Cameron-Christie, Justin Wilde, Andrew Gray, Rick Tankard, Melanie Bahlo, David Markie, Helen M. Evans and Stephen P. Robertson
    Citation: BMC Medical Genomics 2018 11:121
  33. Non-alcoholic fatty liver disease (NAFLD) is a major health burden in need for new medication. To identify potential drug targets a genomic study was performed in lipid-laden primary human hepatocyte (PHH) and...

    Authors: Stephanie Breher-Esch, Nishika Sahini, Anna Trincone, Christin Wallstab and Jürgen Borlak
    Citation: BMC Medical Genomics 2018 11:111
  34. Here we report our findings on using an open consent recruitment protocol, active participant involvement, open access release ... genetic and epigenetic variants. For this pilot study, we recruited 10 participan...

    Authors:
    Citation: BMC Medical Genomics 2018 11:108

    The Data Descriptor to this article has been published in Scientific Data 2019 6:257

  35. Human Down syndrome (DS) is usually caused by genomic micro-duplications and dosage imbalances of human chromosome 21. It is associated with many genomic and phenotype abnormalities. Even though human DS occur...

    Authors: Bing Feng, William Hoskins, Yan Zhang, Zibo Meng, David C. Samuels, Jiandong Wang, Ruofan Xia, Chao Liu, Jijun Tang and Yan Guo
    Citation: BMC Medical Genomics 2018 11(Suppl 5):105

    This article is part of a Supplement: Volume 11 Supplement 5

  36. The right dataset is essential to obtain the right insights in data science; therefore, it is important for data scientists to have a good understanding of the availability of relevant datasets as well as the ...

    Authors: Jingyi Shi, Mingna Zheng, Lixia Yao and Yaorong Ge
    Citation: BMC Medical Genomics 2018 11(Suppl 5):102

    This article is part of a Supplement: Volume 11 Supplement 5

  37. BAP1 is a histone deubiquitinase that acts as a tumor and metastasis suppressor associated with disease progression in human cancer. We have used the “Calling Card System” of transposase-directed transposon in...

    Authors: Matthew Yen, Zongtai Qi, Xuhua Chen, John A. Cooper, Robi D. Mitra and Michael D. Onken
    Citation: BMC Medical Genomics 2018 11:97
  38. Nucleotide Excision Repair (NER) is a major pathway of mammalian DNA repair that is associated with drug resistance and has not been well characterized in acute lymphoblastic leukemia (ALL). The objective of t...

    Authors: Omar M. Ibrahim, Homood M. As Sobeai, Stephen G. Grant and Jean J. Latimer
    Citation: BMC Medical Genomics 2018 11:95
  39. Whole-exome sequencing (WES) has become an invaluable tool for genetic diagnosis in paediatrics. However, it has not been widely adopted in the prenatal setting. This study evaluated the use of WES in prenatal...

    Authors: Gordon K C Leung, Christopher C Y Mak, Jasmine L F Fung, Wilfred H S Wong, Mandy H Y Tsang, Mullin H C Yu, Steven L C Pei, K S Yeung, Gary T K Mok, C P Lee, Amelia P W Hui, Mary H Y Tang, Kelvin Y K Chan, Anthony P Y Liu, Wanling Yang, P C Sham…
    Citation: BMC Medical Genomics 2018 11:93
  40. Verheij syndrome is a rare microdeletion syndrome of chromosome 8q24.3 that harbors PUF60, SCRIB, and NRBP2 genes. Subsequently, loss of function mutations in PUF60 have been found in children with clinical featu...

    Authors: Qiong Xu, Chun-yang Li, Yi Wang, Hui-ping Li, Bing-bing Wu, Yong-hui Jiang and Xiu Xu
    Citation: BMC Medical Genomics 2018 11:92
  41. Detection of copy number variants (CNVs) is an important aspect of clinical testing for several disorders, including Duchenne muscular dystrophy, and is often performed using multiplex ligation-dependent probe...

    Authors: Velina Kozareva, Clayton Stroff, Maxwell Silver, Jonathan F. Freidin and Nigel F. Delaney
    Citation: BMC Medical Genomics 2018 11:91
  42. Noninvasive prenatal screening (NIPS) of common aneuploidies using cell-free DNA from maternal plasma is part of routine prenatal care and is widely used in both high-risk and low-risk patient populations. Hig...

    Authors: Kristjan Eerik Kaseniit, Gregory J Hogan, Kevin M D’Auria, Carrie Haverty and Dale Muzzey
    Citation: BMC Medical Genomics 2018 11:90
  43. Security concerns have been raised since big data became a prominent tool in data analysis. For instance, many machine learning algorithms aim to generate prediction models using training data which contain se...

    Authors: Andrey Kim, Yongsoo Song, Miran Kim, Keewoo Lee and Jung Hee Cheon
    Citation: BMC Medical Genomics 2018 11(Suppl 4):83

    This article is part of a Supplement: Volume 11 Supplement 4

  44. One of the 3 tracks of iDASH Privacy & Security Workshop 2017 competition was to execute a whole genome variants search on private genomic data. Particularly, the search application was to find the top most si...

    Authors: Sergiu Carpov and Thibaud Tortech
    Citation: BMC Medical Genomics 2018 11(Suppl 4):82

    This article is part of a Supplement: Volume 11 Supplement 4

  45. Mutations occurring in the orthodenticle homeobox 2 gene (OTX2) are responsible for a rare genetic syndrome, characterized mainly by microphthalmia/anophthalmia associated with extra-ocular defects such as brain ...

    Authors: Anna Pichiecchio, Giovanni Vitale, Camilla Caporali, Cecilia Parazzini, Donatella Milani, Maria Paola Recalcati, Laura D’Amico, Sabrina Signorini, Umberto Balottin and Stefano Bastianello
    Citation: BMC Medical Genomics 2018 11:87
  46. The transition from ductal carcinoma in situ (DCIS) to invasive breast carcinoma (IBC) is an important step during breast carcinogenesis. Understanding its molecular changes may help to identify high-risk DCIS...

    Authors: Silke Schultz, Harald Bartsch, Karl Sotlar, Karina Petat-Dutter, Michael Bonin, Steffen Kahlert, Nadia Harbeck, Ulrich Vogel, Harald Seeger, Tanja Fehm and Hans J. Neubauer
    Citation: BMC Medical Genomics 2018 11:80
  47. Understanding the effect of human genetic variations on disease can provide insight into phenotype-genotype relationships, and has great potential for improving the effectiveness of personalized medicine. Whil...

    Authors: Ann G. Cirincione, Kaylyn L. Clark and Maricel G. Kann
    Citation: BMC Medical Genomics 2018 11(Suppl 3):75

    This article is part of a Supplement: Volume 11 Supplement 3

  48. Glaucoma is a leading cause of blindness in developed countries. Primary open-angle glaucoma (POAG), the most prevalent clinical subtype of glaucoma in the United States, affects African Americans at a higher ...

    Authors: Nicole A. Restrepo, Sarah M. Laper, Eric Farber-Eger and Dana C. Crawford
    Citation: BMC Medical Genomics 2018 11(Suppl 3):70

    This article is part of a Supplement: Volume 11 Supplement 3

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