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  1. Content type: Research article

    Gastric emptying is impaired in patients with gastroparesis whereas it is either unchanged or accelerated in obese individuals. The goal of the current study was to identify changes in gene expression in the s...

    Authors: B. Paul Herring, Meng Chen, Plamen Mihaylov, April M. Hoggatt, Anita Gupta, Attila Nakeeb, Jennifer N. Choi and John M. Wo

    Citation: BMC Medical Genomics 2019 12:89

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  2. Content type: Research article

    Large granular lymphocyte (LGL) leukemia is an uncommon cancer characterized by sustained clonal proliferation of LGL cells. Antibodies reactive to retroviruses have been documented in the serum of patients wi...

    Authors: Weiling Li, Lei Yang, Robert S. Harris, Lin Lin, Thomas L. Olson, Cait E. Hamele, David J. Feith, Thomas P. Loughran Jr and Mary Poss

    Citation: BMC Medical Genomics 2019 12:88

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  3. Content type: Research article

    The availability and generation of large amounts of genomic data has led to the development of a new paradigm in cancer treatment emphasizing a precision approach at the molecular and genomic level. Statistica...

    Authors: Joshua D. Mannheimer, Dawn L. Duval, Ashok Prasad and Daniel L. Gustafson

    Citation: BMC Medical Genomics 2019 12:87

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  4. Content type: Research article

    RNA-seq is poised to play a major role in the management of kidney transplant patients. Rigorous definition of housekeeping genes (HKG) is essential for further progress in this field. Using single genes or a ...

    Authors: Zijie Wang, Zili Lyu, Ling Pan, Gang Zeng and Parmjeet Randhawa

    Citation: BMC Medical Genomics 2019 12:86

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  5. Content type: Case report

    The 3q duplication syndrome is a result of duplication of a large fragment of the long arm of chromosome 3, mainly 3q21-qter, and in most cases it is diagnosed only after birth. The phenotypic consequences res...

    Authors: Magdalena Pasińska, Rafał Adamczak, Anna Repczyńska, Ewelina Łazarczyk, Barbara Iskra, Agata Klaudia Runge and Olga Haus

    Citation: BMC Medical Genomics 2019 12:85

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  6. Content type: Research article

    Germline mutations in the BRCA1 and BRCA2 genes predispose carriers to breast and ovarian cancer, and there remains a need to identify the specific genomic mechanisms by which cancer evolves in these patients....

    Authors: Avantika Lal, Daniele Ramazzotti, Ziming Weng, Keli Liu, James M. Ford and Arend Sidow

    Citation: BMC Medical Genomics 2019 12:84

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  7. Content type: Case report

    The vast majority of cases with Beckwith-Wiedemann syndrome (BWS) are caused by a molecular defect in the imprinted chromosome region 11p15.5. The underlying mechanisms include epimutations, uniparental disomy...

    Authors: Caroline Lekszas, Indrajit Nanda, Barbara Vona, Julia Böck, Farah Ashrafzadeh, Nahid Donyadideh, Farnoosh Ebrahimzadeh, Najmeh Ahangari, Reza Maroofian, Ehsan Ghayoor Karimiani and Thomas Haaf

    Citation: BMC Medical Genomics 2019 12:83

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  8. Content type: Research

    Ultra-Deep Sequencing (UDS) enabled identification of specific changes in human genome occurring in malignant tumors, with current approaches calling for the detection of specific mutations associated with cer...

    Authors: David S. Campo, Vishal Nayak, Ganesh Srinivasamoorthy and Yury Khudyakov

    Citation: BMC Medical Genomics 2019 12(Suppl 4):74

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    This article is part of a Supplement: Volume 12 Supplement 4

  9. Content type: Research article

    Genetic diversity is greatest within Africa, in particular the KhoeSan click-speaking peoples of southern Africa. South African populations represent admixture fractions including differing degrees of African,...

    Authors: Desiree C. Petersen, Weerachai Jaratlerdsiri, Abraham van Wyk, Eva K. F. Chan, Pedro Fernandez, Ruth J. Lyons, Shingai B. A. Mutambirw, Andre van der Merwe, Philip A. Venter, William Bates, M. S. Riana Bornman and Vanessa M. Hayes

    Citation: BMC Medical Genomics 2019 12:82

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  10. Content type: Technical advance

    Targeted next-generation sequencing (NGS) enables rapid identification of common and rare genetic variation. The detection of variants contributing to therapeutic drug response or adverse effects is essential ...

    Authors: Markus Gulilat, Tyler Lamb, Wendy A. Teft, Jian Wang, Jacqueline S. Dron, John F. Robinson, Rommel G. Tirona, Robert A. Hegele, Richard B. Kim and Ute I. Schwarz

    Citation: BMC Medical Genomics 2019 12:81

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  11. Content type: Research article

    Clinical data identified an association between the use of HMG-CoA reductase inhibitors (statins) and incident diabetes in patients with underlying diabetes risk factors such as obesity, hypertension and dysli...

    Authors: Daniel Margerie, Philippe Lefebvre, Violeta Raverdy, Uwe Schwahn, Hartmut Ruetten, Philip Larsen, Alain Duhamel, Julien Labreuche, Dorothée Thuillier, Bruno Derudas, Céline Gheeraert, Hélène Dehondt, Quentin Dhalluin, Jérémy Alexandre, Robert Caiazzo, Pamela Nesslany…

    Citation: BMC Medical Genomics 2019 12:80

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  12. Content type: Research article

    Intra-tumor heterogeneity stems from genetic, epigenetic, functional, and environmental differences among tumor cells. A major source of genetic heterogeneity comes from DNA sequence differences and/or whole c...

    Authors: Yanding Zhao, Robert Carter, Sivaraman Natarajan, Frederick S. Varn, Duane A. Compton, Charles Gawad, Chao Cheng and Kristina M. Godek

    Citation: BMC Medical Genomics 2019 12:79

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  13. Content type: Technical advance

    Presently, a 50-gene expression model (PAM50) serves as a breast cancer (BC) subtype classifier that is insufficient to distinguish, within each single PAM50-classified subtype, patient subpopulations having d...

    Authors: J. Astor Ankney, Ling Xie, John A. Wrobel, Li Wang and Xian Chen

    Citation: BMC Medical Genomics 2019 12:78

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  14. Content type: Research article

    The co-occurrence of multiple de novo copy number variations (CNVs) is a rare phenomenon in the human genome. Recently, an “organismal CNV mutator phenotype” has been reported to result in transient genomic in...

    Authors: Atsushi Hattori, Kohji Okamura, Yumiko Terada, Rika Tanaka, Yuko Katoh-Fukui, Yoichi Matsubara, Keiko Matsubara, Masayo Kagami, Reiko Horikawa and Maki Fukami

    Citation: BMC Medical Genomics 2019 12:77

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  15. Content type: Research article

    Congenital hearing loss affects approximately 1–2 infants out of every 1000, with 50% of the cases resulting from genetic factors. Targeted gene panels have been widely used for genetic diagnosis of hearing lo...

    Authors: Yu Sun, Jiale Xiang, Yidong Liu, Sen Chen, Jintao Yu, Jiguang Peng, Zijing Liu, Lisha Chen, Jun Sun, Yun Yang, Yaping Yang, Yulin Zhou and Zhiyu Peng

    Citation: BMC Medical Genomics 2019 12:76

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  16. Content type: Research article

    Obesity has been associated with gene methylation regulation. Recent studies have shown that epigenetic signature plays a role in metabolic homeostasis after Roux-en Y gastric bypass (RYGB). To conduct a genom...

    Authors: C. F. Nicoletti, M. A. S. Pinhel, A. Diaz-Lagares, F. F. Casanueva, A. Jácome, V. C. Pinhanelli, B. A. P. de Oliveira, A. B. Crujeiras and C. B. Nonino

    Citation: BMC Medical Genomics 2019 12:72

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  17. Content type: Research

    Tick-borne encephalitis (TBE) is a viral infectious disease caused by tick-borne encephalitis virus (TBEV). TBEV infection is responsible for a variety of clinical manifestations ranging from mild fever to sev...

    Authors: Elena V. Ignatieva, Andrey A. Yurchenko, Mikhail I. Voevoda and Nikolay S. Yudin

    Citation: BMC Medical Genomics 2019 12(Suppl 3):61

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    This article is part of a Supplement: Volume 12 Supplement 3

  18. Content type: Research article

    The etiology of cleft lip with or without cleft palate (CL/P), a common congenital birth defect, is complex and involves the contribution of genetic and environmental factors. Although many candidate genes hav...

    Authors: Mona Gajera, Neha Desai, Akiko Suzuki, Aimin Li, Musi Zhang, Goo Jun, Peilin Jia, Zhongming Zhao and Junichi Iwata

    Citation: BMC Medical Genomics 2019 12:70

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  19. Content type: Research article

    The ability to generate recombinant drug target proteins is important for drug discovery research as it facilitates the investigation of drug-target-interactions in vitro. To accomplish this, the target’s exac...

    Authors: Julia F. Söllner, Germán Leparc, Matthias Zwick, Tanja Schönberger, Tobias Hildebrandt, Kay Nieselt and Eric Simon

    Citation: BMC Medical Genomics 2019 12:69

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  20. Content type: Case report

    Mexico is among the countries showing the highest heterogeneity of CFTR variants. However, no de novo variants have previously been reported in Mexican patients with cystic fibrosis (CF).

    Authors: Angélica Martínez-Hernández, Julieta Larrosa, Francisco Barajas-Olmos, Humberto García-Ortíz, Elvia C. Mendoza-Caamal, Cecilia Contreras-Cubas, Elaheh Mirzaeicheshmeh, José Luis Lezana and Lorena Orozco

    Citation: BMC Medical Genomics 2019 12:68

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  21. Content type: Research article

    Chemoresistance is a primary clinical challenge for the management of small cell lung cancer. Additionally, transcriptional regulation by super enhancer (SE) has an important role in tumor evolution. The funct...

    Authors: Jiarong Bao, Man Li, Shumei Liang, Yunchu Yang, Jingfang Wu, Qingqing Zou, Shun Fang, Size Chen and Linlang Guo

    Citation: BMC Medical Genomics 2019 12:67

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  22. Content type: Research article

    In cystic fibrosis (CF), impaired immune cell responses, driven by the dysfunctional CF transmembrane conductance regulator (CFTR) gene, may determine the disease severity but clinical heterogeneity remains a maj...

    Authors: Justin E. Ideozu, Vittobai Rangaraj, Hiam Abdala-Valencia, Xi Zhang, Manoj Kandpal, Marc A. Sala, Ramana V. Davuluri and Hara Levy

    Citation: BMC Medical Genomics 2019 12:66

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  23. Content type: Correction

    Following publication of the original article [1], the authors reported that Fig. 1 was not correctly processed during the production process. The correct Fig. 1 is given below.

    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 12:65

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    The original article was published in BMC Medical Genomics 2019 12:59

  24. Content type: Research article

    Somatic mutations in cancer genomes occur through a variety of molecular mechanisms, which contribute to different mutational patterns. To summarize these, mutational signatures have been defined using a large...

    Authors: Calvin Wing Yiu Chan, Zuguang Gu, Matthias Bieg, Roland Eils and Carl Herrmann

    Citation: BMC Medical Genomics 2019 12:64

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  25. Content type: Research article

    The accurate screening of tumor genomic landscapes for somatic mutations using high-throughput sequencing involves a crucial step in precise clinical diagnosis and targeted therapy. However, the complex inhere...

    Authors: Irantzu Anzar, Angelina Sverchkova, Richard Stratford and Trevor Clancy

    Citation: BMC Medical Genomics 2019 12:63

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  26. Content type: Research article

    Pancreatic and biliary tract cancer (PC and BTC, respectively) are difficult to diagnose because of their clinical characteristics; however, recent studies suggest that serum microRNAs (miRNAs) might be the ke...

    Authors: Kwondo Kim, DongAhn Yoo, Hee Seung Lee, Kyong Joo Lee, Soo Been Park, Chanyang Kim, Jung Hyun Jo, Dawoon E. Jung and Si Young Song

    Citation: BMC Medical Genomics 2019 12:62

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  27. Content type: Research article

    Transcriptome wide changes have been assessed extensively during the progression of neurodegenerative diseases. Alternative polyadenylation (APA) occurs in over 70% of human protein coding genes and it has rec...

    Authors: Radhika Patel, Cillian Brophy, Mark Hickling, Jonathan Neve and André Furger

    Citation: BMC Medical Genomics 2019 12:60

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  28. Content type: Research article

    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

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

  29. Content type: Research article

    Human Endogenous Retroviruses type K HML-2 (HK2) are integrated into 117 or more areas of human chromosomal arms while two newly discovered HK2 proviruses, K111 and K222, spread extensively in pericentromeric ...

    Authors: Mark H. Kaplan, Mark Kaminski, Judith M. Estes, Scott D. Gitlin, Joseph Zahn, James T. Elder, Trilokraj Tejasvi, Elizabeth Gensterblum, Amr H. Sawalha, Joseph Patrick McGowan, Michael H. Dosik, Haner Direskeneli, Guher Saruhan Direskeneli, Sally N. Adebamowo, Clement A. Adebamowo, Mohammad Sajadi…

    Citation: BMC Medical Genomics 2019 12:58

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  30. Content type: Research article

    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

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  31. Content type: Research article

    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

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  32. Content type: Research article

    Genomic services are increasingly accessible to young adults starting their independent lives with responsibility for their self-care, yet their attitudes to sharing genomic information remain under-researched...

    Authors: Pepita Barnard, Sarah Sharples, Brian J. Thomson and Jonathan M. Garibaldi

    Citation: BMC Medical Genomics 2019 12:55

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  33. Content type: Research article

    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

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  34. Content type: Research

    Eukaryotes compact chromosomes densely and non-randomly, forming three-dimensional structures. Alterations of the chromatin structures are often associated with diseases. In particular, aggressive cancer devel...

    Authors: Luis Augusto Eijy Nagai, Sung-Joon Park and Kenta Nakai

    Citation: BMC Medical Genomics 2019 11(Suppl 7):127

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    This article is part of a Supplement: Volume 11 Supplement 7

  35. Content type: Research

    Recent studies have proposed several gene signatures as biomarkers for different grades of gliomas from various perspectives. However, most of these genes can only be used appropriately for patients with speci...

    Authors: Justin Bo-Kai Hsu, Tzu-Hao Chang, Gilbert Aaron Lee, Tzong-Yi Lee and Cheng-Yu Chen

    Citation: BMC Medical Genomics 2019 11(Suppl 7):34

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    This article is part of a Supplement: Volume 11 Supplement 7

  36. Content type: Technical advance

    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

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  37. Content type: Research

    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

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

  38. Content type: Research

    The conditions of space flight have a significant effect on the physiological processes in the human body, yet the molecular mechanisms driving physiological changes remain unknown.

    Authors: Daria N. Kashirina, Andrew J. Percy, Liudmila Kh. Pastushkova, Christoph H. Borchers, Kirill S. Kireev, Vladimir A. Ivanisenko, Alexey S. Kononikhin, Eugene N. Nikolaev and Irina M. Larina

    Citation: BMC Medical Genomics 2019 12(Suppl 2):45

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

  39. Content type: Research

    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

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

  40. Content type: Review

    Facial-scapular-humeral myodystrophy Landouzy-Dejerine (FSHD) is an autosomal dominant disease, the basis of its pathogenesis is ectopic expression of the transcription factor DUX4 in skeletal muscle. There ar...

    Authors: Nikolay Zernov and Mikhail Skoblov

    Citation: BMC Medical Genomics 2019 12(Suppl 2):43

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

  41. Content type: Research

    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

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

  42. Content type: Research

    Carotid body tumor (CBT) is a rare neoplasm arising from paraganglion located near the bifurcation of the carotid artery. There is great intra-tumor heterogeneity, and CBT development could be associated with ...

    Authors: Anna V. Kudryavtseva, Elena N. Lukyanova, Dmitry V. Kalinin, Andrew R. Zaretsky, Anatoly V. Pokrovsky, Alexander L. Golovyuk, Maria S. Fedorova, Elena A. Pudova, Sergey L. Kharitonov, Vladislav S. Pavlov, Anastasiya A. Kobelyatskaya, Nataliya V. Melnikova, Alexey A. Dmitriev, Andrey P. Polyakov, Boris Y. Alekseev, Marina V. Kiseleva…

    Citation: BMC Medical Genomics 2019 12(Suppl 2):39

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

  43. Content type: Research

    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

    Published on:

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

  44. Content type: Research

    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

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