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  1. Content type: Primary research

    Cardiac hypertrophy and acute myocardial infarction (AMI) are two common heart diseases worldwide. However, research is needed into the exact pathogenesis and effective treatment strategies for these diseases....

    Authors: Jiantao Sun, Jiemei Yang, Jing Chi, Xue Ding and Nan Lv

    Citation: Human Genomics 2018 12:52

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  2. Content type: Primary research

    Deleterious variants in the tumour suppressor BRCA1 are known to cause hereditary breast and ovarian cancer syndrome (HBOC). Missense variants in BRCA1 pose a challenge in clinical care, as their effect on protei...

    Authors: Jonas Langerud, Elisabeth Jarhelle, Marijke Van Ghelue, Sarah Louise Ariansen and Nina Iversen

    Citation: Human Genomics 2018 12:51

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  3. Content type: Primary research

    Increasing evidence is demonstrating that a patient’s unique genetic profile can be used to detect the disease’s onset, prevent its progression, and optimize its treatment. This led to the increased global eff...

    Authors: Lejla Mahmutovic, Betul Akcesme, Camil Durakovic, Faruk Berat Akcesme, Aida Maric, Muhamed Adilovic, Nour Hamad, Matthias Wjst, Oliver Feeney and Sabina Semiz

    Citation: Human Genomics 2018 12:50

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  4. Content type: Primary research

    Modeling thousands of markers simultaneously has been of great interest in testing association between genetic biomarkers and disease or disease-related quantitative traits. Recently, an expectation-maximizati...

    Authors: Weiwei Duan, Ruyang Zhang, Yang Zhao, Sipeng Shen, Yongyue Wei, Feng Chen and David C. Christiani

    Citation: Human Genomics 2018 12:49

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  5. Content type: Primary research

    Metabolic syndrome is a risk factor for type 2 diabetes and cardiovascular disease. We identified common genetic variants that alter the risk for metabolic syndrome in the Korean population. To isolate these v...

    Authors: Sanghoon Moon, Young Lee, Sungho Won and Juyoung Lee

    Citation: Human Genomics 2018 12:48

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  6. Content type: Primary research

    Marfan syndrome (MFS) is an autosomal dominant connective tissue disorder caused by mutations in the FBN1 gene. Approximately 90% of classic MFS patients have a FBN1 mutation that can be identified by single-gene...

    Authors: Hang Yang, Yanyun Ma, Mingyao Luo, Kun Zhao, Yinhui Zhang, Guoyan Zhu, Xiaogang Sun, Fanyan Luo, Lin Wang, Chang Shu and Zhou Zhou

    Citation: Human Genomics 2018 12:46

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  7. Content type: Primary research

    We aimed to clarify the emerging epigenetic landscape in a group of genes classified as “modifier genes” of the β-type globin genes (HBB cluster), known to operate in trans to accomplish the two natural developme...

    Authors: Vasiliki Chondrou, Eleana F. Stavrou, Georgios Markopoulos, Alexandra Kouraklis-Symeonidis, Vasilios Fotopoulos, Argiris Symeonidis, Efthymia Vlachaki, Panagiota Chalkia, George P. Patrinos, Adamantia Papachatzopoulou and Argyro Sgourou

    Citation: Human Genomics 2018 12:45

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  8. Content type: Primary research

    Conotruncal heart defects (CTDs) are heterogeneous congenital heart malformations that result from outflow tract dysplasia; however, the genetic determinants underlying CTDs remain unclear. Increasing evidence...

    Authors: Huilin Xie, Erge Zhang, Nanchao Hong, Qihua Fu, Fen Li, Sun Chen, Yu Yu and Kun Sun

    Citation: Human Genomics 2018 12:44

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  9. Content type: Primary research

    Genetic polymorphisms can contribute to phenotypic differences amongst individuals, including disease risk and drug response. Characterization of genetic polymorphisms that modulate gene expression and/or prot...

    Authors: Yu Jin, Jingbo Wang, Maulana Bachtiar, Samuel S. Chong and Caroline G. L. Lee

    Citation: Human Genomics 2018 12:43

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  10. Content type: Primary research

    Variants with known or possible pathogenicity located in genes that are unrelated to primary disease conditions are defined as secondary findings. Secondary findings are not the primary targets of whole exome ...

    Authors: Wen Chen, Wenke Li, Yi Ma, Yujing Zhang, Bianmei Han, Xuewen Liu, Kun Zhao, Meixian Zhang, Jie Mi, Yuanyuan Fu and Zhou Zhou

    Citation: Human Genomics 2018 12:42

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  11. Content type: Primary research

    Studying epigenetics is expected to provide precious information on how environmental factors contribute to type 2 diabetes mellitus (T2DM) at the genomic level. With the progress of the whole-genome resequenc...

    Authors: Chandrakumar Sathishkumar, Paramasivam Prabu, Viswanathan Mohan and Muthuswamy Balasubramanyam

    Citation: Human Genomics 2018 12:41

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  12. Content type: Primary research

    Massive occurrences of interstitial loss of heterozygosity (LOH) likely resulting from gene conversions were found by us in different cancers as a type of single-nucleotide variations (SNVs), comparable in abu...

    Authors: Taobo Hu, Yogesh Kumar, Iram Shazia, Shen-Jia Duan, Yi Li, Lei Chen, Jin-Fei Chen, Rong Yin, Ava Kwong, Gilberto Ka-Kit Leung, Wai-Kin Mat, Zhenggang Wu, Xi Long, Cheuk-Hin Chan, Si Chen, Peggy Lee…

    Citation: Human Genomics 2018 12:40

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  13. Content type: Primary research

    Ovarian cancer is the leading cause of death worldwide among gynecologic malignancies. The recent approval of inhibitors of poly (ADP-ribose) polymerase (iPARP) in the treatment of ovarian cancer in the presen...

    Authors: Florencia C. Cardoso, Susana Goncalves, Pablo G. Mele, Natalia C. Liria, Leonardo Sganga, Ignacio Diaz Perez, Ernesto J. Podesta and Angela R. Solano

    Citation: Human Genomics 2018 12:39

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  14. Content type: Primary research

    High-altitude polycythemia (HAPC) is a chronic high-altitude disease that can lead to an increase in the production of red blood cells in the people who live in the plateau, a hypoxia environment, for a long t...

    Authors: Xiaowei Fan, Lifeng Ma, Zhiying Zhang, Yi Li, Meng Hao, Zhipeng Zhao, Yiduo Zhao, Fang Liu, Lijun Liu, Xingguang Luo, Peng Cai, Yansong Li and Longli Kang

    Citation: Human Genomics 2018 12:37

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  15. Content type: Genome database

    Germline pathogenic variants in the breast cancer type 1 susceptibility gene BRCA1 are associated with a 60% lifetime risk for breast and ovarian cancer. This overall risk estimate is for all BRCA1 variants; obvi...

    Authors: Isabelle Cusin, Daniel Teixeira, Monique Zahn-Zabal, Valentine Rech de Laval, Anne Gleizes, Valeria Viassolo, Pierre O. Chappuis, Pierre Hutter, Amos Bairoch and Pascale Gaudet

    Citation: Human Genomics 2018 12:36

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  16. Content type: Primary research

    Retinitis pigmentosa is an important cause of severe visual dysfunction. This study reports a novel splicing mutation in the lecithin retinol acyltransferase (LRAT) gene associated with early onset retinitis pigm...

    Authors: Yabin Chen, Li Huang, Xiaodong Jiao, Sheikh Riazuddin, S. Amer Riazuddin and J. Fielding Hetmancik

    Citation: Human Genomics 2018 12:35

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  17. Content type: Primary research

    Limb girdle muscular dystrophies (LGMD) are a group of heterogeneous hereditary myopathies with similar clinical symptoms. Disease onset and progression are highly variable, with an elusive genetic background,...

    Authors: Jakub Piotr Fichna, Anna Macias, Marcin Piechota, Michał Korostyński, Anna Potulska-Chromik, Maria Jolanta Redowicz and Cezary Zekanowski

    Citation: Human Genomics 2018 12:34

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  18. Content type: Letter to the Editor

    Naturally occurring stress-induced transcriptional readthrough is a recently discovered phenomenon, in which stress conditions lead to dramatic induction of long transcripts as a result of transcription termin...

    Authors: Niv Sabath, Anna Vilborg, Joan A. Steitz and Reut Shalgi

    Citation: Human Genomics 2018 12:32

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  19. Content type: Primary research

    Hearing loss is a major cause of disability worldwide, impairing communication, health, and quality of life. Emerging methods of gene therapy aim to address this morbidity, which can be employed to fix a genet...

    Authors: Kobi Perl, Ron Shamir and Karen B. Avraham

    Citation: Human Genomics 2018 12:30

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  20. Content type: Primary research

    The mechanism underlying chromosome rearrangement in nasopharyngeal carcinoma (NPC) remains elusive. It is known that most of the aetiological factors of NPC trigger oxidative stress. Oxidative stress is a pot...

    Authors: Sang-Nee Tan, Sai-Peng Sim and Alan Soo-Beng Khoo

    Citation: Human Genomics 2018 12:29

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  21. Content type: Primary research

    Oxidative stress is associated with the increased risk of hypertension (HTN). This cross-sectional study is aimed to identify the association between the peroxisome proliferator-activated receptor-δ (PPARD) polym...

    Authors: Minjoo Kim, Minkyung Kim, Hye Jin Yoo, Jayoung Shon and Jong Ho Lee

    Citation: Human Genomics 2018 12:28

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  22. Content type: Primary research

    Mutations in keratin proteins have been vastly associated with a wide array of genodermatoses; however, mutations of keratins in psoriasis have not been fully investigated. The main aim of the current research...

    Authors: Tamilselvi Elango, Jingying Sun, Caihong Zhu, Fusheng Zhou, Yaohua Zhang, Liangdan Sun, Sen Yang and Xuejun Zhang

    Citation: Human Genomics 2018 12:27

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  23. Content type: Review

    The analysis of population structure has many applications in medical and population genetic research. Such analysis is used to provide clear insight into the underlying genetic population substructure and is ...

    Authors: Luluah Alhusain and Alaaeldin M. Hafez

    Citation: Human Genomics 2018 12:25

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  24. Content type: Primary research

    Genomic and biosocial research data about individuals is rapidly proliferating, bringing the potential for novel opportunities for data integration and use. The scale, pace and novelty of these applications ra...

    Authors: Madeleine J. Murtagh, Mwenza T. Blell, Olly W. Butters, Lorraine Cowley, Edward S. Dove, Alissa Goodman, Rebecca L. Griggs, Alison Hall, Nina Hallowell, Meena Kumari, Massimo Mangino, Barbara Maughan, Melinda C. Mills, Joel T. Minion, Tom Murphy, Gillian Prior…

    Citation: Human Genomics 2018 12:24

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  25. Content type: Primary research

    Atypical iron overload without variation in the five clinically associated hereditary hemochromatosis genes is now recognized; however, their etiology remains unknown. Since the identification of iron overload...

    Authors: Cameron J. McDonald, Gautam Rishi, Eriza S. Secondes, Lesa Ostini, Daniel F. Wallace, Darrell H. G. Crawford, Hanlon Sia, Paul Clark and V. Nathan Subramaniam

    Citation: Human Genomics 2018 12:23

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  26. Content type: Primary research

    Recent innovations in gene analysis technology have allowed for rapid and inexpensive sequencing of entire genomes. Thus, both conducting a study using whole genome sequencing (WGS) in a large population and t...

    Authors: Taketoshi Okita, Noriko Ohashi, Daijiro Kabata, Ayumi Shintani and Kazuto Kato

    Citation: Human Genomics 2018 12:21

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  27. Content type: Primary research

    The APOBEC gene family of cytidine deaminases plays important roles in DNA repair and mRNA editing. In many cancers, APOBEC3B increases the mutation load, generating clusters of closely spaced, single-strand-spec...

    Authors: Suleyman Vural, Richard Simon and Julia Krushkal

    Citation: Human Genomics 2018 12:20

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  28. Content type: Primary research

    In individuals with Duchenne muscular dystrophy (DMD), exon skipping treatment to restore a wild-type phenotype or correct the frame shift of the mRNA transcript of the dystrophin (DMD) gene are mutation-specific...

    Authors: Nasser A. Elhawary, Essam H. Jiffri, Samira Jambi, Ahmad H. Mufti, Anas Dannoun, Hassan Kordi, Asim Khogeer, Osama H. Jiffri, Abdelrahman N. Elhawary and Mohammed T. Tayeb

    Citation: Human Genomics 2018 12:18

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  29. Content type: Primary research

    While there is an ongoing trend to identify single nucleotide substitutions (SNSs) that are linked to inter/intra-species differences and disease phenotypes, short tandem repeats (STRs)/microsatellites may be ...

    Authors: N. Nazaripanah, F. Adelirad, A. Delbari, R. Sahaf, T. Abbasi-Asl and M. Ohadi

    Citation: Human Genomics 2018 12:17

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  30. Content type: Letter to the Editor

    MicroRNAs (miRNAs) are crucial regulators of gene expression in normal development and cellular homeostasis. While miRNA repositories contain thousands of unique sequences, they primarily contain molecules tha...

    Authors: Brenda C. Minatel, Victor D. Martinez, Kevin W. Ng, Adam P. Sage, Tomas Tokar, Erin A. Marshall, Christine Anderson, Katey S. S. Enfield, Greg L. Stewart, Patricia P. Reis, Igor Jurisica and Wan L. Lam

    Citation: Human Genomics 2018 12:16

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  31. Content type: Letter to the Editor

    Previous studies demonstrated that massive induction of transcriptional readthrough generates downstream of gene-containing transcripts (DoGs) in cells under stress condition. Here, we analyzed TSS-seq (transc...

    Authors: Ming-Yu Huang and Ji-Long Liu

    Citation: Human Genomics 2018 12:15

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  32. Content type: Research Article

    Pompe disease (PD) is an autosomal recessive, lysosomal storage disease due to a mutation of the acid α-glucosidase (GAA) gene. In adult patients, PD is characterized by slowly progressive limb-girdle and trunk m...

    Authors: U. Plöckinger, V. Prasad, A. Ziagaki, N. Tiling and A. Poellinger

    Citation: Human Genomics 2018 12:14

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  33. Content type: Opinion Article

    Governments, funding bodies, institutions, and publishers have developed a number of strategies to encourage researchers to facilitate access to datasets. The rationale behind this approach is that this will b...

    Authors: Jane Kaye, Sharon F. Terry, Eric Juengst, Sarah Coy, Jennifer R. Harris, Don Chalmers, Edward S. Dove, Isabelle Budin-Ljøsne, Clement Adebamowo, Emilomo Ogbe, Louise Bezuidenhout, Michael Morrison, Joel T. Minion, Madeleine J. Murtagh, Jusaku Minari, Harriet Teare…

    Citation: Human Genomics 2018 12:13

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  34. Content type: Primary Research

    Genomic sequencing of children in research raises complex ethical issues. This study aims to gain more knowledge on the attitudes towards the inclusion of children as research subjects in genomic research and ...

    Authors: Anna Sundby, Merete Watt Boolsen, Kristoffer Sølvsten Burgdorf, Henrik Ullum, Thomas Folkmann Hansen and Ole Mors

    Citation: Human Genomics 2018 12:12

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  35. Content type: Primary Research

    Intellectual disability (ID) is a common condition with a population prevalence frequency of 1–3% and an enrichment for males, driven in part by the contribution of mutant alleles on the X-chromosome. Among th...

    Authors: Georgios Kellaris, Kamal Khan, Shahid M. Baig, I-Chun Tsai, Francisca Millan Zamora, Paul Ruggieri, Marvin R. Natowicz and Nicholas Katsanis

    Citation: Human Genomics 2018 12:11

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  36. Content type: Meeting Report

    Authors: Georgia Charkoftaki, Nicholas J. W. Rattray, Per E. Andrén, Richard M. Caprioli, Steve Castellino, Mark W. Duncan, Richard J. A. Goodwin, Kevin L. Schey, Sheerin K. Shahidi-Latham, Kirill A. Veselkov, Caroline H. Johnson and Vasilis Vasiliou

    Citation: Human Genomics 2018 12:10

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  37. Content type: Review

    There is a growing support for the stance that patients and research participants should have better and easier access to their raw (uninterpreted) genomic sequence data in both clinical and research contexts.

    Authors: Adrian Thorogood, Jason Bobe, Barbara Prainsack, Anna Middleton, Erick Scott, Sarah Nelson, Manuel Corpas, Natasha Bonhomme, Laura Lyman Rodriguez, Madeleine Murtagh and Erika Kleiderman

    Citation: Human Genomics 2018 12:7

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  38. Content type: Primary Research

    National and international efforts like the 1000 Genomes Project are leading to increasing insights in the genetic structure of populations worldwide. Variation between different populations necessitates acces...

    Authors: Jimmy Van den Eynden, Tine Descamps, Els Delporte, Nancy H. C. Roosens, Sigrid C. J. De Keersmaecker, Vanessa De Wit, Joris Robert Vermeesch, Els Goetghebeur, Jean Tafforeau, Stefaan Demarest, Marc Van den Bulcke and Herman Van Oyen

    Citation: Human Genomics 2018 12:6

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  39. Content type: Meeting Report

    The 2017 KidGen Renal Genetics Symposium was held at the Royal Children’s Hospital and Murdoch Children’s Research Institute, Melbourne, from 6 to 8 December 2017. This meeting addressed clinical, diagnostic, ...

    Authors: Kushani Jayasinghe, Cathy Quinlan, Zornitza Stark, Chirag Patel, Matthew G. Sampson, Moin Saleem and Andrew J. Mallett

    Citation: Human Genomics 2018 12:5

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  40. Content type: Review

    Over the past 20 years, advances in genomic technology have enabled unparalleled access to the information contained within the human genome. However, the multiple genetic variants associated with various dise...

    Authors: Nicholas J. W. Rattray, Nicole C. Deziel, Joshua D. Wallach, Sajid A. Khan, Vasilis Vasiliou, John P. A. Ioannidis and Caroline H. Johnson

    Citation: Human Genomics 2018 12:4

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  41. Content type: Primary Research

    Whole-exome sequencing (WES) over the last few years has been increasingly employed for clinical diagnosis. However, one caveat with its use is that it inevitably fails to detect disease-causative variants that o...

    Authors: Ye Wang, Xueli Wu, Liu Du, Ju Zheng, Songqing Deng, Xin Bi, Qiuyan Chen, Hongning Xie, Claude Férec, David N. Cooper, Yanmin Luo, Qun Fang and Jian-Min Chen

    Citation: Human Genomics 2018 12:3

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