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Human Genomics

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  1. Content type: Primary research

    The identification of disease-causing variants in autosomal dominant diseases using exome-sequencing data remains a difficult task in small pedigrees. We combined several strategies to improve filtering and pr...

    Authors: Teresa Requena, Alvaro Gallego-Martinez and Jose A. Lopez-Escamez

    Citation: Human Genomics 2017 11:11

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  2. Content type: Primary Research

    Genetic variant effect prediction algorithms are used extensively in clinical genomics and research to determine the likely consequences of amino acid substitutions on protein function. It is vital that we bet...

    Authors: Khalid Mahmood, Chol-hee Jung, Gayle Philip, Peter Georgeson, Jessica Chung, Bernard J. Pope and Daniel J. Park

    Citation: Human Genomics 2017 11:10

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  3. Content type: Primary Research

    Epidemiological studies of DNA methylation profiles may uncover the molecular mechanisms through which genetic and environmental factors contribute to the risk of multifactorial diseases. There are two types o...

    Authors: Itsuki Taniguchi, Chihiro Iwaya, Keizo Ohnaka, Hiroki Shibata and Ken Yamamoto

    Citation: Human Genomics 2017 11:8

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  4. Content type: Letter to the Editor

    A reservoir of HIV-1 is a major obstacle in eliminating HIV-1 in patients because it can reactivate in stopping antiretroviral therapy (ART). Histone modifications, such as acetylation and methylation, play a ...

    Authors: Kyung-Chang Kim, Sunyoung Lee, Junseock Son, Younghyun Shin, Cheol-Hee Yoon, Chun Kang and Byeong-Sun Choi

    Citation: Human Genomics 2017 11:9

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  5. Content type: Primary Research

    SPINK1 (serine protease inhibitor, kazal-type, 1), which encodes human pancreatic secretory trypsin inhibitor, is one of the most extensively studied genes underlying chronic pancreati...

    Authors: Wen-Bin Zou, Hao Wu, Arnaud Boulling, David N. Cooper, Zhao-Shen Li, Zhuan Liao, Jian-Min Chen and Claude Férec

    Citation: Human Genomics 2017 11:7

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  6. 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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  7. 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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  8. 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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  9. 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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  10. 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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  11. 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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  12. 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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  13. 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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  14. 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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  15. 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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  16. 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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  17. 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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  18. 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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  19. 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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  20. 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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  21. 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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