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  1. Recently, several rare variants of TP73 were identified as potential disease cause for amyotrophic lateral sclerosis (ALS) in the European population. However, further replication was still necessary, especially ...

    Authors: Chunyu Li, Yanbing Hou, Qianqian Wei, Junyu Lin, Qirui Jiang, Tianmi Yang, Yi Xiao, Jingxuan Huang, Yangfan Cheng, Ruwei Ou, Kuncheng Liu, Xueping Chen, Wei Song, Bi Zhao, Ying Wu, Bei Cao…
    Citation: Human Genomics 2022 16:63
  2. In recent years, a growing interest in the characterization of the molecular basis of psoriasis has been observed. However, despite the availability of a large amount of molecular data, many pathogenic mechani...

    Authors: Antonio Federico, Alisa Pavel, Lena Möbus, David McKean, Giusy del Giudice, Vittorio Fortino, Hanna Niehues, Joe Rastrick, Kilian Eyerich, Stefanie Eyerich, Ellen van den Bogaard, Catherine Smith, Stephan Weidinger, Emanuele de Rinaldis and Dario Greco
    Citation: Human Genomics 2022 16:62
  3. For the majority of individuals with early-onset or familial breast cancer referred for genetic testing, the genetic basis of their familial breast cancer remains unexplained. To identify novel germline varian...

    Authors: Ning Yuan Lee, Melissa Hum, Aseervatham Anusha Amali, Wei Kiat Lim, Matthew Wong, Matthew Khine Myint, Ru Jin Tay, Pei-Yi Ong, Jens Samol, Chia Wei Lim, Peter Ang, Min-Han Tan, Soo-Chin Lee and Ann S. G. Lee
    Citation: Human Genomics 2022 16:61
  4. The interferon-induced transmembrane-protein 3 (IFITM3) is a vital component of the immune system's defense against viral infection. Variants in the IFITM3 gene have been linked to changes in expression and the r...

    Authors: Melika Gholami, Fatemeh Sakhaee, Fattah Sotoodehnejadnematalahi, Mohammad Saber Zamani, Iraj Ahmadi, Enayat Anvari and Abolfazl Fateh
    Citation: Human Genomics 2022 16:60
  5. The HUGO Gene Nomenclature Committee (HGNC) has been providing standardized symbols and names for human genes since the late 1970s. As funding agencies change their priorities, finding financial support for cr...

    Authors: Elspeth A. Bruford, Bryony Braschi, Liora Haim-Vilmovsky, Tamsin E. M. Jones, Ruth L. Seal and Susan Tweedie
    Citation: Human Genomics 2022 16:58
  6. Focal and segmental glomerulosclerosis (FSGS) is a histological pathology that characterizes a wide spectrum of diseases. Many genes associated with FSGS have been studied previously, but there are still some ...

    Authors: Hafiz Muhammad Jafar Hussain, Yikai Cai, Qinjie Weng, Jun Tong, Ayesha Aftab, Yuanmeng Jin, Jian Liu, Shuwen Yu, Zhengying Fang, Wen Du, Xiaoxia Pan, Hong Ren and Jingyuan Xie
    Citation: Human Genomics 2022 16:57
  7. Following the draft sequence of the first human genome over 20 years ago, we have achieved unprecedented insights into the rules governing its evolution, often with direct translational relevance to specific d...

    Authors: Alex Dornburg, Rittika Mallik, Zheng Wang, Moisés A. Bernal, Brian Thompson, Elspeth A. Bruford, Daniel W. Nebert, Vasilis Vasiliou, Laurel R. Yohe, Jeffrey A. Yoder and Jeffrey P. Townsend
    Citation: Human Genomics 2022 16:56
  8. Cardiomyopathies are a leading cause of progressive heart failure and sudden cardiac death; however, their genetic aetiology remains poorly understood. We hypothesised that variants in noncoding regulatory reg...

    Authors: Nirmal Vadgama, Mohamed Ameen, Laksshman Sundaram, Sadhana Gaddam, Casey Gifford, Jamal Nasir and Ioannis Karakikes
    Citation: Human Genomics 2022 16:55
  9. Age-related diseases account for almost half of all diseases among adults worldwide, and their incidence is substantially affected by the exposome, which is the sum of all exogenous and endogenous environmenta...

    Authors: Enmin Ding, Yu Wang, Juan Liu, Song Tang and Xiaoming Shi
    Citation: Human Genomics 2022 16:54
  10. Proteins and metabolites are essential for many biological functions and often linked through enzymatic or transport reactions. Individual molecules have been associated with all-cause mortality. Many of these...

    Authors: Linda Zhou, Aditya Surapaneni, Eugene P. Rhee, Bing Yu, Eric Boerwinkle, Josef Coresh, Morgan E. Grams and Pascal Schlosser
    Citation: Human Genomics 2022 16:53
  11. Autism spectrum disorder (ASD) is often accompanied by intellectual disability (ID). Despite extensive studies, however, the genetic basis for this comorbidity is still not clear. In this study, we tried to de...

    Authors: Wen-Xiong Chen, Bin Liu, Lijie Zhou, Xiaoli Xiong, Jie Fu, Zhi-Fang Huang, Ting Tan, Mingxi Tang, Jun Wang and Ya-Ping Tang
    Citation: Human Genomics 2022 16:52
  12. Syndromic congenital heart disease (CHD) is among the most severe conditions in the pediatric population. Copy number variant (CNV) is an important cause of syndromic CHD, but few studies focused on CNVs relat...

    Authors: Ping Li, Weicheng Chen, Mengru Li, Zhengshan Zhao, Zhiyu Feng, Han Gao, Meijiao Suo, Ziqing Xu, Guixiang Tian, Feizhen Wu, Sheng Wei and Guoying Huang
    Citation: Human Genomics 2022 16:51
  13. Mature cystic teratomas of the ovary are the most common type of germ cell tumor, comprising 33% of ovarian tumors. Studying these tumors may result in a better understanding of their stepwise developmental pr...

    Authors: Wen-Chung Wang and Yen-Chein Lai
    Citation: Human Genomics 2022 16:50
  14. FOXC1 encodes a forkhead-domain transcription factor associated with several ocular disorders. Correct FOXC1 dosage is critical to normal development, yet the mechanisms controlling its expression remain unknown....

    Authors: Jesús-José Ferre-Fernández, Sanaa Muheisen, Samuel Thompson and Elena V. Semina
    Citation: Human Genomics 2022 16:49
  15. Abnormalities in cilia ultrastructure and function lead to a range of human phenotypes termed ciliopathies. Many tetratricopeptide repeat domain (TTC) family members have been reported to play critical roles i...

    Authors: Weicheng Chen, Feifei Wang, Weijia Zeng, Xinyan Zhang, Libing Shen, Yuan Zhang and Xiangyu Zhou
    Citation: Human Genomics 2022 16:48
  16. Ligation of CD28 with ligands such as CD80 or CD86 provides a critical second signal alongside antigen presentation by class II major histocompatibility complex expressed on antigen-presenting cells through th...

    Authors: Yuki Hitomi, Yoshihiro Aiba, Kazuko Ueno, Nao Nishida, Yosuke Kawai, Minae Kawashima, Makoto Tsuiji, Chisato Iwabuchi, Sanami Takada, Noriko Miyake, Masao Nagasaki, Katsushi Tokunaga and Minoru Nakamura
    Citation: Human Genomics 2022 16:46
  17. It has been suggested that bipolar disorder (BD) is associated with clinical and biological features of accelerated aging. In our previous studies, we showed that long-term lithium treatment was correlated wit...

    Authors: Alessio Squassina, Anna Meloni, Donatella Congiu, Panagiotis Bosganas, George P. Patrinos, Rixing Lin, Gustavo Turecki, Giovanni Severino, Raffaella Ardau, Caterina Chillotti and Claudia Pisanu
    Citation: Human Genomics 2022 16:45
  18. Pharmacogenomic (PGx) testing has proved its utility and cost-effectiveness for some commonly prescribed cardiovascular disease (CVD) medications. In addition, PGx-guided dosing guidelines are now available fo...

    Authors: Zeina N. Al-Mahayri, Lubna Q. Khasawneh, Mais N. Alqasrawi, Sahar M. Altoum, Gohar Jamil, Sally Badawi, Dana Hamza, Lizy George, Anwar AlZaabi, Husam Ouda, Fatma Al-Maskari, Juma AlKaabi, George P. Patrinos and Bassam R. Ali
    Citation: Human Genomics 2022 16:42
  19. Heterotaxy syndrome (HTX) is caused by aberrant left–right patterning early in embryonic development, which results in abnormal positioning and morphology of the thoracic and abdominal organs. Currently, genet...

    Authors: Xi-ji Qin, Meng-meng Xu, Jia-jun Ye, Yi-wei Niu, Yu-rong Wu, Rang Xu, Fen Li, Qi-hua Fu, Sun Chen, Kun Sun and Yue-juan Xu
    Citation: Human Genomics 2022 16:41
  20. CBL syndrome is a RASopathy caused by heterozygous germline mutations of the Casitas B-lineage lymphoma (CBL) gene. It is characterized by heterogeneous clinical phenotype, including developmental delay, facia...

    Authors: Francesco Baccelli, Davide Leardini, Edoardo Muratore, Daria Messelodi, Salvatore Nicola Bertuccio, Maria Chiriaco, Caterina Cancrini, Francesca Conti, Fausto Castagnetti, Lucia Pedace, Andrea Pession, Ayami Yoshimi, Charlotte Niemeyer, Marco Tartaglia, Franco Locatelli and Riccardo Masetti
    Citation: Human Genomics 2022 16:40
  21. Clinical classification of autistic patients based on current WHO criteria provides a valuable but simplified depiction of the true nature of the disorder. Our goal is to determine the biology of the disorder ...

    Authors: Ioanna Talli, Nikolas Dovrolis, Anastasis Oulas, Stavroula Stavrakaki, Kali Makedou, George M. Spyrou and Ioanna Maroulakou
    Citation: Human Genomics 2022 16:39
  22. Thyroid eye disease (TED) is the most common orbital pathology that occurs in up to 50% of patients with Graves’ disease. Herein, we aimed at discovering the possible hub genes and pathways involved in TED bas...

    Authors: Jinxing Hu, Shan Zhou and Weiying Guo
    Citation: Human Genomics 2022 16:38
  23. A major challenge to enabling precision health at a global scale is the bias between those who enroll in state sponsored genomic research and those suffering from chronic disease. More than 30 million people h...

    Authors: Arturo Lopez-Pineda, Manvi Vernekar, Sonia Moreno-Grau, Agustin Rojas-Muñoz, Babak Moatamed, Ming Ta Michael Lee, Marco A. Nava-Aguilar, Gilberto Gonzalez-Arroyo, Kensuke Numakura, Yuta Matsuda, Alexander Ioannidis, Nicholas Katsanis, Tomohiro Takano and Carlos D. Bustamante
    Citation: Human Genomics 2022 16:37
  24. Bicuspid aortic valve (BAV) is the most common congenital heart defect in human beings, with an estimated prevalence in the general population of between 0.5 and 2%. Moreover, BAV is the most common cause of a...

    Authors: Shasha Chen, Qinchun Jin, Shiqiang Hou, Mingfei Li, Yuan Zhang, Lihua Guan, Wenzhi Pan, Junbo Ge and Daxin Zhou
    Citation: Human Genomics 2022 16:36
  25. Human angiotensin-converting enzyme 2 (ACE2), a type I transmembrane receptor physiologically acting as a carboxypeptidase enzyme within the renin-angiotensin system (RAS), is a critical mediator of infection ...

    Authors: Sally Badawi, Feda E. Mohamed, Nesreen R. Alkhofash, Anne John, Amanat Ali and Bassam R. Ali
    Citation: Human Genomics 2022 16:35
  26. Over the past few decades, global maternal obesity prevalence has rapidly increased. This condition may induce long-lasting pathophysiological effects on either fetal or infant health that could be attributabl...

    Authors: Zhuoyao Ma, Yingjin Wang, Yanmei Quan, Zhijie Wang, Yue Liu and Zhide Ding
    Citation: Human Genomics 2022 16:34
  27. The tripartite motif containing (TRIM)-22 participates in innate immune responses and exhibits antiviral activities. The present study aimed to assess of the relationship between TRIM22 single-nucleotide polymorp...

    Authors: Nidhal Raheem Juhi Al-Kaabi, Sepideh Chodari Khameneh, Mohadeseh Montazeri, Mahsa Mardasi, Jalal Mosayebi Amroabadi, Fatemeh Sakhaee and Abolfazl Fateh
    Citation: Human Genomics 2022 16:33
  28. The detoxification of very long-chain and branched-chain fatty acids and the metabolism of cholesterol to form bile acids occur largely through a process called peroxisomal β-oxidation. Mutations in several pe...

    Authors: Melanie Galano, Shereen Ezzat and Vassilios Papadopoulos
    Citation: Human Genomics 2022 16:32
  29. The American College of Medical Genetics and Genomics (ACMG)-recommended five variant classification categories (pathogenic, likely pathogenic, uncertain significance, likely benign, and benign) have been wide...

    Authors: Emmanuelle Masson, Wen-Bin Zou, Emmanuelle Génin, David N. Cooper, Gerald Le Gac, Yann Fichou, Na Pu, Vinciane Rebours, Claude Férec, Zhuan Liao and Jian-Min Chen
    Citation: Human Genomics 2022 16:31
  30. The prevalence and genetic spectrum of cardiac channelopathies exhibit population-specific differences. We aimed to understand the spectrum of cardiac channelopathy-associated variations in India, which is cha...

    Authors: Anjali Bajaj, Vigneshwar Senthivel, Rahul Bhoyar, Abhinav Jain, Mohamed Imran, Mercy Rophina, Mohit Kumar Divakar, Bani Jolly, Ankit Verma, Anushree Mishra, Disha Sharma, Siddharthan Deepti, Gautam Sharma, Raghav Bansal, Rakesh Yadav, Vinod Scaria…
    Citation: Human Genomics 2022 16:30
  31. High-cost, time-consuming and complex processes of several current approaches limit the use of noninvasive prenatal diagnosis (NIPD) for monogenic disorders in clinical application. Thus, a more cost-effective...

    Authors: Wenman Wu, Xuanyou Zhou, Zhengwen Jiang, Dazhi Zhang, Feng Yu, Lanlan Zhang, Xuefeng Wang, Songchang Chen and Chenming Xu
    Citation: Human Genomics 2022 16:28
  32. RT-PCR is the foremost clinical test for diagnosis of COVID-19. Unfortunately, PCR-based testing has limitations and may not result in a positive test early in the course of infection before symptoms develop. ...

    Authors: Cosby G. Arnold, Iain Konigsberg, Jason Y. Adams, Sunita Sharma, Neil Aggarwal, Andrew Hopkinson, Alexis Vest, Monica Campbell, Meher Boorgula, Ivana Yang, Christopher Gignoux, Kathleen C. Barnes and Andrew A. Monte
    Citation: Human Genomics 2022 16:27
  33. Genome-wide association studies (GWASs) have identified hundreds of loci for body mass index (BMI), but functional variants in these loci are less known. The purpose of this study was to identify RNA modificat...

    Authors: Jingyun Wu, Mimi Wang, Limin Han, Huan Zhang, Shufeng Lei, Yonghong Zhang and Xingbo Mo
    Citation: Human Genomics 2022 16:25
  34. More than half of human protein-coding genes have an alternative transcription start site (TSS). We aimed to investigate the contribution of alternative TSSs to the acute-stress-induced transcriptome response ...

    Authors: Pavel A. Makhnovskii, Oleg A. Gusev, Roman O. Bokov, Guzel R. Gazizova, Tatiana F. Vepkhvadze, Evgeny A. Lysenko, Olga L. Vinogradova, Fedor A. Kolpakov and Daniil V. Popov
    Citation: Human Genomics 2022 16:24
  35. Phenylketonuria (PKU) is a common, autosomal recessive inborn error of metabolism caused by PAH gene variants. After routine genetic analysis methods were applied, approximately 5% of PKU patients were still not ...

    Authors: Jinshuang Gao, Xiaole Li, Yaqing Guo, Haiyang Yu, Liying Song, Yang Fang, Erfeng Yuan, Qianqian Shi, Dehua Zhao, Enwu Yuan and Linlin Zhang
    Citation: Human Genomics 2022 16:23
  36. This review discusses the epidemiology, pathophysiology, genetic etiology, and management of phenylketonuria (PKU). PKU, an autosomal recessive disease, is an inborn error of phenylalanine (Phe) metabolism cau...

    Authors: Nasser A. Elhawary, Imad A. AlJahdali, Iman S. Abumansour, Ezzeldin N. Elhawary, Nagwa Gaboon, Mohammed Dandini, Abdulelah Madkhali, Wafaa Alosaimi, Abdulmajeed Alzahrani, Fawzia Aljohani, Ehab M. Melibary and Osama A. Kensara
    Citation: Human Genomics 2022 16:22
  37. COVID-19, which is caused by the SARS-CoV-2, has ravaged the world for the past 2 years. Here, we review the current state of research into the disease with focus on its history, human genetics and genomics an...

    Authors: Michela Biancolella, Vito Luigi Colona, Ruty Mehrian-Shai, Jessica Lee Watt, Lucio Luzzatto, Giuseppe Novelli and Juergen K. V. Reichardt
    Citation: Human Genomics 2022 16:19
  38. A number of countries are leading the way in creating regulatory frameworks for preimplantation genetic testing (PGT). Among these countries, a point of consensus is that PGT may be used to avoid the birth of ...

    Authors: Kate Nakasato, Beverley Anne Yamamoto and Kazuto Kato
    Citation: Human Genomics 2022 16:16
  39. Obesity is a complex, multifactorial condition in which genetic play an important role. Most of the systematic studies currently focuses on individual omics aspect and provide insightful yet limited knowledge ...

    Authors: Qiang Zhang, Xiang-He Meng, Chuan Qiu, Hui Shen, Qi Zhao, Lan-Juan Zhao, Qing Tian, Chang-Qing Sun and Hong-Wen Deng
    Citation: Human Genomics 2022 16:15
  40. Gastric cancer (GC) shows high metastasis and low survival. RNA modification writers play critical roles in tumor development. This study examined the clinical significance of RNA modification writers in GC pr...

    Authors: Shi Zhang, Guanghao Kuang, Yao Huang, Xinxin Huang, Weiyu Wang and Guoqiang Wang
    Citation: Human Genomics 2022 16:14

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