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Human Genomics

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  1. Content type: Meeting Report

    The exposome is defined as “the totality of environmental exposures encountered from birth to death” and was developed to address the need for comprehensive environmental exposure assessment to better understa...

    Authors: Caroline H. Johnson, Toby J. Athersuch, Gwen W. Collman, Suraj Dhungana, David F. Grant, Dean P. Jones, Chirag J. Patel and Vasilis Vasiliou

    Citation: Human Genomics 2017 11:32

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  2. Content type: Primary Research

    Genomic profiling of malignant tumours has assisted clinicians in providing targeted therapies for many serious cancer-related illnesses. Although the characterisation of somatic mutations is the primary aim o...

    Authors: Yasmin Bylstra, Tamra Lysaght, Jyothi Thrivikraman, Sangeetha Watson and Patrick Tan

    Citation: Human Genomics 2017 11:31

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  3. Content type: Primary Research

    Amyotrophic lateral sclerosis (ALS) is a devastating disease whose complex pathology has been associated with a strong genetic component in the context of both familial and sporadic disease. Herein, we adopted...

    Authors: Konstantinos Mitropoulos, Eleni Merkouri Papadima, Georgia Xiromerisiou, Angeliki Balasopoulou, Kyriaki Charalampidou, Vasiliki Galani, Krystallia-Vassiliki Zafeiri, Efthymios Dardiotis, Styliani Ralli, Georgia Deretzi, Anne John, Kyriaki Kydonopoulou, Elpida Papadopoulou, Alba di Pardo, Fulya Akcimen, Annalisa Loizedda…

    Citation: Human Genomics 2017 11:30

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  4. Content type: Correction

    After publication of the article [1], it has been brought to our attention that there is a nomenclature issue with this article. At the time of acceptance, the VARS2 mutation was considered equivalent to the V...

    Authors: Abdulaziz Alsemari, Banan Al-Younes, Ewa Goljan, Dyala Jaroudi, Faisal BinHumaid, Brian F. Meyer, Stefan T. Arold and Dorota Monies

    Citation: Human Genomics 2017 11:33

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    The original article was published in Human Genomics 2017 11:28

  5. Content type: Primary Research

    Peptidylglycine-α-amidating monooxygenase (PAM) may play a role in the secretion of atrial natriuretic peptide (ANP), which is a hormone involved in the maintenance of blood pressure (BP). The objective of the...

    Authors: Hye Jin Yoo, Minjoo Kim, Minkyung Kim, Jey Sook Chae, Sang-Hyun Lee and Jong Ho Lee

    Citation: Human Genomics 2017 11:29

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  6. Content type: Primary Research

    Most mitochondrial and cytoplasmic aminoacyl-tRNA synthetases (aaRSs) are encoded by nuclear genes. Syndromic disorders resulting from mutation of aaRSs genes display significant phenotypic heterogeneity. We e...

    Authors: Abdulaziz Alsemari, Banan Al-Younes, Ewa Goljan, Dyala Jaroudi, Faisal BinHumaid, Brian F. Meyer, Stefan T. Arold and Dorota Monies

    Citation: Human Genomics 2017 11:28

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  7. Content type: Primary Research

    Lymphedema (LE) is a chronic clinical manifestation of filarial nematode infections characterized by lymphatic dysfunction and subsequent accumulation of protein-rich fluid in the interstitial space—lymphatic ...

    Authors: Linda Batsa Debrah, Anna Albers, Alexander Yaw Debrah, Felix F. Brockschmidt, Tim Becker, Christine Herold, Andrea Hofmann, Jubin Osei-Mensah, Yusif Mubarik, Holger Fröhlich, Achim Hoerauf and Kenneth Pfarr

    Citation: Human Genomics 2017 11:26

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  8. Content type: Primary Research

    Five affected individuals with syndromic tremulous dystonia, spasticity, and white matter disease from a consanguineous extended family covering a period of over 24 years are presented. A positional cloning ap...

    Authors: Dorota Monies, Hussam Abou Al-Shaar, Ewa A. Goljan, Banan Al-Younes, Muna Monther Abdullah Al-Breacan, Maher Mohammed Al-Saif, Salma M. Wakil, Brian F. Meyer, Khalid S. A. Khabar and Saeed Bohlega

    Citation: Human Genomics 2017 11:25

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  9. Content type: Primary Research

    Human erythropoiesis is characterized by distinct gene expression profiles at various developmental stages. Previous studies suggest that fetal-to-adult hemoglobin switch is regulated by a complex mechanism, i...

    Authors: Vasiliki Chondrou, Petros Kolovos, Argyro Sgourou, Alexandra Kourakli, Alexia Pavlidaki, Vlasia Kastrinou, Anne John, Argiris Symeonidis, Bassam R. Ali, Adamantia Papachatzopoulou, Theodora Katsila and George P. Patrinos

    Citation: Human Genomics 2017 11:24

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  10. Content type: Opinion Article

    There are bioethical, institutional, economic, legal, and cultural obstacles to creating the robust-precompetitive-data resource that will be required to advance the vision of “precision medicine,” the ability...

    Authors: Maynard V. Olson

    Citation: Human Genomics 2017 11:23

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  11. Content type: Primary Research

    Observations of recurrent somatic mutations in tumors have led to identification and definition of signaling and other pathways that are important for cancer progression and therapeutic targeting. As tumor cel...

    Authors: Jamie K. Teer, Yonghong Zhang, Lu Chen, Eric A. Welsh, W. Douglas Cress, Steven A. Eschrich and Anders E. Berglund

    Citation: Human Genomics 2017 11:22

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  12. Content type: Primary Research

    Growing evidence suggests that spiritual/religious involvement may have beneficial effects on both psychological and physical functions. However, the biological basis for this relationship remains unclear. Thi...

    Authors: Junji Ohnishi, Satoshi Ayuzawa, Seiji Nakamura, Shigeko Sakamoto, Miyo Hori, Tomoko Sasaoka, Eriko Takimoto-Ohnishi, Masakazu Tanatsugu and Kazuo Murakami

    Citation: Human Genomics 2017 11:21

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  13. Content type: Opinion

    This paper considers the tensions created in genomic research by public and private for-profit ideals. Our intent is to strengthen the public good at a time when doing science is strongly motivated by market p...

    Authors: Benjamin Capps, Ruth Chadwick, Yann Joly, John J. Mulvihill, Tamra Lysaght and Hub Zwart

    Citation: Human Genomics 2017 11:20

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  14. Content type: Primary Research

    Osteogenesis imperfecta (OI) is a rare bone disorder. In 90% of cases, OI is caused by mutations in the COL1A1/2 genes, which code procollagen α1 and α2 chains. The main aim of the current research was to identif...

    Authors: Lidiia Zhytnik, Katre Maasalu, Ene Reimann, Ele Prans, Sulev Kõks and Aare Märtson

    Citation: Human Genomics 2017 11:19

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  15. Content type: Primary Research

    Autosomal recessive forms of retinitis punctata albescens (RPA) have been described. RPA is characterized by progressive retinal degeneration due to alteration in visual cycle and consequent deposit of photopi...

    Authors: Concetta Scimone, Luigi Donato, Teresa Esposito, Carmela Rinaldi, Rosalia D’Angelo and Antonina Sidoti

    Citation: Human Genomics 2017 11:18

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  16. Content type: Primary Research

    The ciliopathies represent an umbrella group of >50 clinical entities that share both clinical features and molecular etiology underscored by structural and functional defects of the primary cilium. Despite th...

    Authors: Benjamin M. Helm, Jason R. Willer, Azita Sadeghpour, Christelle Golzio, Eric Crouch, Samantha Schrier Vergano, Nicholas Katsanis and Erica E. Davis

    Citation: Human Genomics 2017 11:16

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  17. Content type: Primary Research

    Human T cell leukemia virus type 1 (HTLV-1) causes adult T cell leukemia (ATL) in a proportion of infected individuals after a long latency period. Development of ATL is a multistep clonal process that can be ...

    Authors: Amir Farmanbar, Sanaz Firouzi, Wojciech Makałowski, Masako Iwanaga, Kaoru Uchimaru, Atae Utsunomiya, Toshiki Watanabe and Kenta Nakai

    Citation: Human Genomics 2017 11:15

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  18. Content type: Primary Research

    Breast cancer is the most common among women worldwide, and ovarian cancer is the most difficult gynecological tumor to diagnose and with the lowest chance of cure. Mutations in BRCA1 and BRCA2 genes increase the...

    Authors: Ana Lígia Buzolin, Caroline Mônaco Moreira, Patricia Rossi Sacramento, Andre Yuji Oku, Alexandre Ricardo dos Santos Fornari, David Santos Marco Antonio, Caio Robledo D Angioli Costa Quaio, Wagner Rosa Baratela and Miguel Mitne-Neto

    Citation: Human Genomics 2017 11:14

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  19. Content type: Review

    Neurofibromatosis type 1 (NF1: Online Mendelian Inheritance in Man (OMIM) #162200) is an autosomal dominantly inherited tumour predisposition syndrome. Heritable constitutional mutations in the NF1 gene result in...

    Authors: Charlotte Philpott, Hannah Tovell, Ian M. Frayling, David N. Cooper and Meena Upadhyaya

    Citation: Human Genomics 2017 11:13

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  20. Content type: Review

    Neurodegenerative diseases (NGDs) such as Alzheimer’s and Parkinson’s are debilitating and largely untreatable conditions strongly linked to age. The clinical, neuropathological, and genetic components of NGDs...

    Authors: Yiru Anning Wang, Jan Edward Kammenga and Simon Crawford Harvey

    Citation: Human Genomics 2017 11:12

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  21. 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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  22. 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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