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  1. Content type: Primary research

    Polycythemia vera (PV), characterized by massive production of erythrocytes, is one of the myeloproliferative neoplasms. Most patients carry a somatic gain-of-function mutation in JAK2, c.1849G > T (p.Val617Phe),...

    Authors: Elina A. M. Hirvonen, Esa Pitkänen, Kari Hemminki, Lauri A. Aaltonen and Outi Kilpivaara

    Citation: Human Genomics 2017 11:6

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  2. Content type: Primary research

    A growing number of severe Mycoplasma pneumoniae pneumonia (MPP) cases have been reported recently. However, the pathogenesis of severe MPP is not clear. In the current study, transcriptome sequencing was used to...

    Authors: Kuo Wang, Man Gao, Mingyue Yang, Fanzheng Meng, Deli Li, Ruihua Lu, Yan Wang, Huadong Zhuang, Mengyao Li, Genhong Cheng and Xiaosong Wang

    Citation: Human Genomics 2017 11:4

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  3. Content type: Primary research

    Genetic predisposition to the clinical categories of coronary artery disease (anatomical viz., insignificant, single, double, and triple vessel diseases and phenotypic severity categories viz., angina, acute c...

    Authors: Rayabarapu Pranavchand, Arramraju Sreenivas Kumar and Battini Mohan Reddy

    Citation: Human Genomics 2017 11:3

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  4. Content type: Primary research

    Salivary amylase in humans is encoded by the copy variable gene AMY1 in the amylase gene cluster on chromosome 1. Although the role of salivary amylase is well established, the consequences of the copy number var...

    Authors: Danielle Carpenter, Laura M. Mitchell and John A. L. Armour

    Citation: Human Genomics 2017 11:2

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  5. Content type: Primary research

    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...

    Authors: 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

    Citation: Human Genomics 2017 11:1

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  6. Content type: Primary research

    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...

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

    Citation: Human Genomics 2016 10:39

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  7. Content type: Primary research

    Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a monogenic, hereditary, small vessel disease of the brain causing stroke and vascular dementia in adults...

    Authors: Neven Maksemous, Robert A. Smith, Larisa M. Haupt and Lyn R. Griffiths

    Citation: Human Genomics 2016 10:38

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  8. Content type: Primary research

    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...

    Authors: 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

    Citation: Human Genomics 2016 10:37

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  9. Content type: Primary research

    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...

    Authors: 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

    Citation: Human Genomics 2016 10:36

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  10. Content type: Primary research

    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...

    Authors: 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…

    Citation: Human Genomics 2016 10:34

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  11. Content type: Primary research

    Accurate annotation of protein functions is still a big challenge for understanding life in the post-genomic era. Many computational methods based on protein-protein interaction (PPI) networks have been propos...

    Authors: Bihai Zhao, Sai Hu, Xueyong Li, Fan Zhang, Qinglong Tian and Wenyin Ni

    Citation: Human Genomics 2016 10:33

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  12. Content type: Primary research

    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...

    Authors: 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…

    Citation: Human Genomics 2016 10:32

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  13. Content type: Letter to the Editor

    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...

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

    Citation: Human Genomics 2016 10:31

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  14. Content type: Review

    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 ...

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

    Citation: Human Genomics 2016 10:29

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  15. Content type: Primary research

    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...

    Authors: 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

    Citation: Human Genomics 2016 10:28

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  16. Content type: Primary research

    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...

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

    Citation: Human Genomics 2016 10:27

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  17. Content type: Research

    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...

    Authors: 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

    Citation: Human Genomics 2016 10(Suppl 2):22

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

  18. Content type: Research

    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...

    Authors: 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

    Citation: Human Genomics 2016 10(Suppl 2):21

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

  19. Content type: Research

    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...

    Authors: Isaac Akogwu, Nan Wang, Chaoyang Zhang and Ping Gong

    Citation: Human Genomics 2016 10(Suppl 2):20

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

  20. Content type: Research

    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...

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

    Citation: Human Genomics 2016 10(Suppl 2):19

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

  21. Content type: Research

    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...

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

    Citation: Human Genomics 2016 10(Suppl 2):18

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

  22. Content type: Research

    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...

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

    Citation: Human Genomics 2016 10(Suppl 2):17

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

  23. Content type: Primary research

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

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

    Citation: Human Genomics 2016 10:26

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  24. Content type: Primary research

    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...

    Authors: 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…

    Citation: Human Genomics 2016 10:24

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  25. Content type: Opinion article

    Microhaplotypes are a new type of genetic marker in forensics and population genetics. A standardized nomenclature is desirable. A simple approach that does not require a central authority for approval is prop...

    Authors: Kenneth K. Kidd

    Citation: Human Genomics 2016 10:16

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  26. Content type: Primary research

    After coronary stenting, the risk of developing restenosis is from 20 to 35 %. The aim of the present study is to investigate the association of genetic variation in candidate genes in patients diagnosed with ...

    Authors: Elena V. Zholdybayeva, Yerkebulan A. Talzhanov, Akbota M. Aitkulova, Pavel V. Tarlykov, Gulmira N. Kulmambetova, Aisha N. Iskakova, Aliya U. Dzholdasbekova, Olga A. Visternichan, Dana Zh. Taizhanova and Yerlan M. Ramanculov

    Citation: Human Genomics 2016 10:15

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  27. Content type: Meeting Abstracts

    O1 The metabolomics approach to autism: identification of biomarkers for early detection of autism spectrum disorder

    Authors: A. K. Srivastava, Y. Wang, R. Huang, C. Skinner, T. Thompson, L. Pollard, T. Wood, F. Luo, R. Stevenson, R. Polimanti, J. Gelernter, X. Lin, I. Y. Lim, Y. Wu, A. L. Teh, L. Chen…

    Citation: Human Genomics 2016 10(Suppl 1):12

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    This article is part of a Supplement: Volume 10 Supplement 1

  28. Content type: Primary research

    Currently, the majority of genetic association studies on chronic obstructive pulmonary disease (COPD) risk focused on identifying the individual effects of single nucleotide polymorphisms (SNPs) as well as th...

    Authors: Li An, Yingxiang Lin, Ting Yang and Lin Hua

    Citation: Human Genomics 2016 10:13

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  29. Content type: Primary research

    Reliable, inexpensive, high-throughput genotyping methods are required for clinical trials. Traditional assays require numerous enzyme digestions or are too expensive for large sample volumes. Our objective wa...

    Authors: Songtao Ben, Rhonda M. Cooper-DeHoff, Hanna K. Flaten, Oghenero Evero, Tracey M. Ferrara, Richard A. Spritz and Andrew A. Monte

    Citation: Human Genomics 2016 10:11

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  30. Content type: Gene family update

    Members of the lymphocyte antigen-6 (Ly6)/urokinase-type plasminogen activator receptor (uPAR) superfamily of proteins are cysteine-rich proteins characterized by a distinct disulfide bridge pattern that creat...

    Authors: Chelsea L. Loughner, Elspeth A. Bruford, Monica S. McAndrews, Emili E. Delp, Sudha Swamynathan and Shivalingappa K. Swamynathan

    Citation: Human Genomics 2016 10:10

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  31. Content type: Letter to the Editor

    The knowledge of the individual genetic “status” in the prenatal era is particularly relevant in the case of positive family history for genetic diseases, in advanced maternal age and in the general screening ...

    Authors: Adalgisa Pietropolli, Maria Vittoria Capogna, Raffaella Cascella, Chiara Germani, Valentina Bruno, Claudia Strafella, Simona Sarta, Carlo Ticconi, Giusy Marmo, Sara Gallaro, Giuliana Longo, Luigi Tonino Marsella, Antonio Novelli, Giuseppe Novelli, Emilio Piccione and Emiliano Giardina

    Citation: Human Genomics 2016 10:9

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  32. Content type: Primary research

    Coronary artery disease (CAD) is a leading cause of morbidity and mortality worldwide. Many genetic and environmental risk factors including atherogenic dyslipidemia contribute towards the development of CAD. ...

    Authors: Cyril Cyrus, Chittibabu Vatte, Awatif Al-Nafie, Shahanas Chathoth, Rudaynah Al-Ali, Abdullah Al-Shehri, Mohammed Shakil Akhtar, Mohammed Almansori, Fahad Al-Muhanna, Brendan Keating and Amein Al-Ali

    Citation: Human Genomics 2016 10:8

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  33. Content type: Reviewer acknowledgement

    The Editors of Human Genomics would like to thank all our reviewers who have contributed to the journal in volume 9 (2015).

    Authors: Vasilis Vasiliou

    Citation: Human Genomics 2016 10:7

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  34. Content type: Review

    The HUGO Gene Nomenclature Committee (HGNC) approves unique gene symbols and names for human loci. As well as naming genomic loci, we manually curate genes into family sets based on shared characteristics such...

    Authors: Kristian A Gray, Ruth L Seal, Susan Tweedie, Mathew W Wright and Elspeth A Bruford

    Citation: Human Genomics 2016 10:6

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  35. Content type: Erratum

    Authors: Yichuan Liu, Yun Li, Michael E. March, Kenny Nguyen, Kexiang Xu, Fengxiang Wang, Yiran Guo, Brendan Keating, Joseph Glessner, Jiankang Li, Theodore J. Ganley, Jianguo Zhang, Matthew A. Deardorff, Xun Xu and Hakon Hakonarson

    Citation: Human Genomics 2016 10:5

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    The original article was published in Human Genomics 2015 9:31

  36. Content type: Primary research

    Precision medicine in oncology relies on rapid associations between patient-specific variations and targeted therapeutic efficacy. Due to the advancement of genomic analysis, a vast literature characterizing c...

    Authors: Sara E. Patterson, Rangjiao Liu, Cara M. Statz, Daniel Durkin, Anuradha Lakshminarayana and Susan M. Mockus

    Citation: Human Genomics 2016 10:4

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  37. Content type: Primary research

    Migraine is the most common neurological disorder, affecting approximately 12 % of the adult population worldwide, caused by both environmental and genetic factors. Three causative genes have been identified i...

    Authors: Izabela Domitrz, Michalina Kosiorek, Cezary Żekanowski and Anna Kamińska

    Citation: Human Genomics 2016 10:3

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  38. Content type: Primary research

    Proximal tubular dysfunction (PTD) is associated with a decreased long-term graft survival in renal transplant patients and can be detected by the elevation of urinary tubular proteins. This study investigated...

    Authors: Hátylas Azevedo, Paulo Guilherme Renesto, Rogério Chinen, Erika Naka, Ana Cristina Carvalho de Matos, Marcos Antônio Cenedeze, Carlos Alberto Moreira-Filho, Niels Olsen Saraiva Câmara and Alvaro Pacheco-Silva

    Citation: Human Genomics 2016 10:2

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  39. Content type: Primary research

    Chronic obstructive pulmonary disease (COPD) is characterized by an irreversible airflow limitation in response to inhalation of noxious stimuli, such as cigarette smoke. However, only 15–20 % smokers manifest...

    Authors: Shannon Bruse, Michael Moreau, Yana Bromberg, Jun-Ho Jang, Nan Wang, Hongseok Ha, Maria Picchi, Yong Lin, Raymond J. Langley, Clifford Qualls, Julia Klensney-Tait, Joseph Zabner, Shuguang Leng, Jenny Mao, Steven A. Belinsky, Jinchuan Xing…

    Citation: Human Genomics 2016 10:1

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  40. Content type: Primary research

    The human APOBEC protein family plays critical but distinct roles in host defense. Recent studies revealed that APOBECs mediate C-to-T mutagenesis in multiple cancers, including breast cancer. It is still uncl...

    Authors: Yanfeng Zhang, Ryan Delahanty, Xingyi Guo, Wei Zheng and Jirong Long

    Citation: Human Genomics 2015 9:34

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  41. Content type: Primary research

    Next-generation sequencing (NGS) has revolutionized genetic research and offers enormous potential for clinical application. Sequencing the exome has the advantage of casting the net wide for all known coding ...

    Authors: Eileen C. P. Lim, Maggie Brett, Angeline H. M. Lai, Siew-Peng Lee, Ee-Shien Tan, Saumya S. Jamuar, Ivy S. L. Ng and Ene-Choo Tan

    Citation: Human Genomics 2015 9:33

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  42. Content type: Gene family update

    Fanconi anemia (FA) is a recessively inherited disease manifesting developmental abnormalities, bone marrow failure, and increased risk of malignancies. Whereas FA has been studied for nearly 90 years, only in...

    Authors: Hongbin Dong, Daniel W. Nebert, Elspeth A. Bruford, David C. Thompson, Hans Joenje and Vasilis Vasiliou

    Citation: Human Genomics 2015 9:32

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  43. Content type: Primary research

    Absence of the anterior (ACL) or posterior cruciate ligament (PCL) are rare congenital malformations that result in knee joint instability, with a prevalence of 1.7 per 100,000 live births and can be associate...

    Authors: Yichuan Liu, Yun Li, Michael E. March, Kenny Nguyen, Kexiang Xu, Fengxiang Wang, Yiran Guo, Brendan Keating, Joseph Glessner, Jiankang Li, Theodore J. Ganley, Jianguo Zhang, Matthew A. Deardorff, Xun Xu and Hakon Hakonarson

    Citation: Human Genomics 2015 9:31

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    The Erratum to this article has been published in Human Genomics 2016 10:5

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