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  1. Primary research

    Variants in congenital hypogonadotrophic hypogonadism genes identified in an Indonesian cohort of 46,XY under-virilised boys

    Congenital hypogonadotrophic hypogonadism (CHH) and Kallmann syndrome (KS) are caused by disruption to the hypothalamic-pituitary-gonadal (H-P-G) axis. In particular, reduced production, secretion or action of...

    Katie L. Ayers, Aurore Bouty, Gorjana Robevska, Jocelyn A. van den Bergen, Achmad Zulfa Juniarto, Nurin Aisyiyah Listyasari, Andrew H. Sinclair and Sultana M. H. Faradz

    Human Genomics 2017 11:1

    Published on: 16 February 2017

  2. Primary research

    Head-and-neck squamous cell carcinoma risk in smokers: no association detected between phenotype and AHR, CYP1A1, CYP1A2, or CYP1B1 genotype

    Head-and-neck squamous cell carcinoma (HNSCC) differs between smokers and nonsmokers in etiology and clinical presentation. Because of demonstrated unequivocal involvement in smoking-induced cancer in laborato...

    Lucia F. Jorge-Nebert, Ge Zhang, Keith M. Wilson, Zhengwen Jiang, Randall Butler, Jack L. Gluckman, Susan M. Pinney and Daniel W. Nebert

    Human Genomics 2016 10:39

    Published on: 28 November 2016

  3. Primary research

    Transcriptome analysis reveals manifold mechanisms of cyst development in ADPKD

    Autosomal dominant polycystic kidney disease (ADPKD) causes progressive loss of renal function in adults as a consequence of the accumulation of cysts. ADPKD is the most common genetic cause of end-stage renal...

    Rita M. C. de Almeida, Sherry G. Clendenon, William G. Richards, Michael Boedigheimer, Michael Damore, Sandro Rossetti, Peter C. Harris, Britney-Shea Herbert, Wei Min Xu, Angela Wandinger-Ness, Heather H. Ward, James A. Glazier and Robert L. Bacallao

    Human Genomics 2016 10:37

    Published on: 21 November 2016

  4. Primary research

    A genomic case study of desmoplastic small round cell tumor: comprehensive analysis reveals insights into potential therapeutic targets and development of a monitoring tool for a rare and aggressive disease

    Genome-wide profiling of rare tumors is crucial for improvement of diagnosis, treatment, and, consequently, achieving better outcomes. Desmoplastic small round cell tumor (DSRCT) is a rare type of sarcoma aris...

    Elisa Napolitano Ferreira, Bruna Durães Figueiredo Barros, Jorge Estefano de Souza, Renan Valieris Almeida, Giovana Tardin Torrezan, Sheila Garcia, Ana Cristina Victorino Krepischi, Celso Abdon Lopes de Mello, Isabela Werneck da Cunha, Clóvis Antonio Lopes Pinto, Fernando Augusto Soares, Emmanuel Dias-Neto, Ademar Lopes, Sandro José de Souza and Dirce Maria Carraro

    Human Genomics 2016 10:36

    Published on: 18 November 2016

  5. Primary research

    Novel genetic risk variants for pediatric celiac disease

    Celiac disease is a complex chronic immune-mediated disorder of the small intestine. Today, the pathobiology of the disease is unclear, perplexing differential diagnosis, patient stratification, and decision-m...

    Angeliki Balasopoulou, Biljana Stanković, Angeliki Panagiotara, Gordana Nikčevic, Brock A. Peters, Anne John, Effrosyni Mendrinou, Apostolos Stratopoulos, Aigli Ioanna Legaki, Vasiliki Stathakopoulou, Aristoniki Tsolia, Nikolaos Govaris, Sofia Govari, Zoi Zagoriti, Konstantinos Poulas, Maria Kanariou…

    Human Genomics 2016 10:34

    Published on: 24 October 2016

  6. Primary research

    A first-line diagnostic assay for limb-girdle muscular dystrophy and other myopathies

    Fifty random genetically unstudied families (limb-girdle muscular dystrophy (LGMD)/myopathy) were screened with a gene panel incorporating 759 OMIM genes associated with neurological disorders. Average coverag...

    Dorota Monies, Hindi N. Alhindi, Mohamed A. Almuhaizea, Mohamed Abouelhoda, Anas M. Alazami, Ewa Goljan, Banan Alyounes, Dyala Jaroudi, Abdulelah AlIssa, Khalid Alabdulrahman, Shazia Subhani, Mohamed El-Kalioby, Tariq Faquih, Salma M. Wakil, Nada A. Altassan, Brian F. Meyer…

    Human Genomics 2016 10:32

    Published on: 27 September 2016

  7. Letter to the Editor

    Variation of global DNA methylation levels with age and in autistic children

    The change in epigenetic signatures, in particular DNA methylation, has been proposed as risk markers for various age-related diseases. However, the course of variation in methylation levels with age, the diff...

    Shui-Ying Tsang, Tanveer Ahmad, Flora W. K. Mat, Cunyou Zhao, Shifu Xiao, Kun Xia and Hong Xue

    Human Genomics 2016 10:31

    Published on: 23 September 2016

  8. Review

    MicroRNAs in acute kidney injury

    Acute kidney injury (AKI) is an important clinical issue that is associated with significant morbidity and mortality. Despite research advances over the past decades, the complex pathophysiology of AKI is not ...

    Pei-Chun Fan, Chia-Chun Chen, Yung-Chang Chen, Yu-Sun Chang and Pao-Hsien Chu

    Human Genomics 2016 10:29

    Published on: 8 September 2016

  9. Primary research

    Transcriptome sequencing of gingival biopsies from chronic periodontitis patients reveals novel gene expression and splicing patterns

    Periodontitis is the most common chronic inflammatory disease caused by complex interaction between the microbial biofilm and host immune responses. In the present study, high-throughput RNA sequencing was uti...

    Yong-Gun Kim, Minjung Kim, Ji Hyun Kang, Hyo Jeong Kim, Jin-Woo Park, Jae-Mok Lee, Jo-Young Suh, Jae-Young Kim, Jae-Hyung Lee and Youngkyun Lee

    Human Genomics 2016 10:28

    Published on: 17 August 2016

  10. Primary research

    Mutation analysis of the COL1A1 and COL1A2 genes in Vietnamese patients with osteogenesis imperfecta

    The genetics of osteogenesis imperfecta (OI) have not been studied in a Vietnamese population before. We performed mutational analysis of the COL1A1 and COL1A2 genes in 91 unrelated OI patients of Vietnamese orig...

    Binh Ho Duy, Lidiia Zhytnik, Katre Maasalu, Ivo Kändla, Ele Prans, Ene Reimann, Aare Märtson and Sulev Kõks

    Human Genomics 2016 10:27

    Published on: 12 August 2016

  11. Research

    Association of six CpG-SNPs in the inflammation-related genes with coronary heart disease

    Chronic inflammation has been widely considered to be the major risk factor of coronary heart disease (CHD). The goal of our study was to explore the possible association with CHD for inflammation-related sing...

    Xiaomin Chen, Xiaoying Chen, Yan Xu, William Yang, Nan Wu, Huadan Ye, Jack Y. Yang, Qingxiao Hong, Yanfei Xin, Mary Qu Yang, Youping Deng and Shiwei Duan

    Human Genomics 2016 10(Suppl 2):21

    Published on: 25 July 2016

    This article is part of a Supplement: Volume 10 Supplement 2

  12. Research

    The up-regulation of Myb may help mediate EGCG inhibition effect on mouse lung adenocarcinoma

    Green tea polyphenol epigallocatechin-3-gallate (EGCG) has been demonstrated to inhibit cancer in experimental studies through its antioxidant activity and modulations on cellular functions by binding specific...

    Hong Zhou, Joseph Manthey, Ekaterina Lioutikova, William Yang, Kenji Yoshigoe, Mary Qu Yang and Hong Wang

    Human Genomics 2016 10(Suppl 2):19

    Published on: 25 July 2016

    This article is part of a Supplement: Volume 10 Supplement 2

  13. Research

    The clinical significance of snail protein expression in gastric cancer: a meta-analysis

    Snail is a typical transcription factor that could induce epithelial-mesenchymal transition (EMT) and cancer progression. There are some related reports about the clinical significance of snail protein express...

    Xiaoya Chen, Jinjun Li, Ling Hu, William Yang, Lili Lu, Hongyan Jin, Zexiong Wei, Jack Y. Yang, Hamid R. Arabnia, Jun S. Liu, Mary Qu Yang and Youping Deng

    Human Genomics 2016 10(Suppl 2):22

    Published on: 25 July 2016

    This article is part of a Supplement: Volume 10 Supplement 2

  14. Research

    Identification of protein complexes from multi-relationship protein interaction networks

    Protein complexes play an important role in biological processes. Recent developments in experiments have resulted in the publication of many high-quality, large-scale protein-protein interaction (PPI) dataset...

    Xueyong Li, Jianxin Wang, Bihai Zhao, Fang-Xiang Wu and Yi Pan

    Human Genomics 2016 10(Suppl 2):17

    Published on: 25 July 2016

    This article is part of a Supplement: Volume 10 Supplement 2

  15. Research

    Hypomethylation coordinates antagonistically with hypermethylation in cancer development: a case study of leukemia

    Methylation changes are frequent in cancers, but understanding how hyper- and hypomethylated region changes coordinate, associate with genomic features, and affect gene expression is needed to better understan...

    Garima Kushwaha, Mikhail Dozmorov, Jonathan D. Wren, Jing Qiu, Huidong Shi and Dong Xu

    Human Genomics 2016 10(Suppl 2):18

    Published on: 25 July 2016

    This article is part of a Supplement: Volume 10 Supplement 2

  16. Research

    A comparative study of k-spectrum-based error correction methods for next-generation sequencing data analysis

    Innumerable opportunities for new genomic research have been stimulated by advancement in high-throughput next-generation sequencing (NGS). However, the pitfall of NGS data abundance is the complication of dis...

    Isaac Akogwu, Nan Wang, Chaoyang Zhang and Ping Gong

    Human Genomics 2016 10(Suppl 2):20

    Published on: 25 July 2016

    This article is part of a Supplement: Volume 10 Supplement 2

  17. Primary research

    Exome sequencing discloses KALRN homozygous variant as likely cause of intellectual disability and short stature in a consanguineous pedigree

    The recent availability of whole-exome sequencing has opened new possibilities for the evaluation of individuals with genetically undiagnosed intellectual disability.

    Periklis Makrythanasis, Michel Guipponi, Federico A. Santoni, Maha Zaki, Mahmoud Y. Issa, Muhammad Ansar, Hanan Hamamy and Stylianos E. Antonarakis

    Human Genomics 2016 10:26

    Published on: 16 July 2016

  18. Primary research

    Experience of a multidisciplinary task force with exome sequencing for Mendelian disorders

    In order to optimally integrate the use of high-throughput sequencing (HTS) as a tool in clinical diagnostics of likely monogenic disorders, we have created a multidisciplinary “Genome Clinic Task Force” at th...

    S. Fokstuen, P. Makrythanasis, E. Hammar, M. Guipponi, E. Ranza, K. Varvagiannis, F. A. Santoni, M. Albarca-Aguilera, M. E. Poleggi, F. Couchepin, C. Brockmann, A. Mauron, S. A. Hurst, C. Moret, C. Gehrig, A. Vannier…

    Human Genomics 2016 10:24

    Published on: 28 June 2016

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