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  1. We previously identified a genetic subtype (C4) of type 2 diabetes (T2D), benefitting from intensive glycemia treatment in the Action to Control Cardiovascular Risk in Diabetes (ACCORD) trial. Here, we charact...

    Authors: Courtney Hershberger, Arshiya Mariam, Kevin M. Pantalone, John B. Buse, Alison A. Motsinger-Reif and Daniel M. Rotroff
    Citation: Human Genomics 2024 18:70
  2. In Colombia and worldwide, breast cancer (BC) is the most frequently diagnosed neoplasia and the leading cause of death from cancer among women. Studies predominantly involve hereditary and familial cases, dem...

    Authors: Diana Carolina Sierra-Díaz, Adrien Morel, Dora Janeth Fonseca-Mendoza, Nora Contreras Bravo, Nicolas Molano-Gonzalez, Mariana Borras, Isabel Munevar, Mauricio Lema, Henry Idrobo, Daniela Trujillo, Norma Serrano, Ana Isabel Orduz, Diego Lopera, Jaime González, Gustavo Rojas, Paula Londono-De Los Ríos…
    Citation: Human Genomics 2024 18:68
  3. Sex-related differences in colorectal (CRC) incidence and mortality are well-documented. However, the impact of sex on metabolic pathways that drive cancer growth is not well understood. High expression of asp...

    Authors: Oladimeji Aladelokun, Lingeng Lu, Jie Zheng, Hong Yan, Abhishek Jain, Joanna Gibson, Sajid A. Khan and Caroline H. Johnson
    Citation: Human Genomics 2024 18:67
  4. Human cytomegalovirus (HCMV) is a herpesvirus that can infect various cell types and modulate host gene expression and immune response. It has been associated with the pathogenesis of various cancers, but its ...

    Authors: Tengyue Yan, Xianwu Pang, Boying Liang, Qiuxia Meng, Huilin Wei, Wen Li, Dahai Liu and Yanling Hu
    Citation: Human Genomics 2024 18:65
  5. The 22q11.2 deletion syndrome (22q11.2DS) is a microdeletion syndrome with highly variable phenotypic manifestations, even though most patients present the typical 3 Mb microdeletion, usually affecting the sam...

    Authors: Anelisa Gollo Dantas, Beatriz Carvalho Nunes, Natália Nunes, Pedro Galante, Paula Fontes Asprino, Vanessa Kiyomi Ota and Maria Isabel Melaragno
    Citation: Human Genomics 2024 18:64
  6. Diabetic foot ulcers (DFU) is the most serious complication of diabetes mellitus, which has become a global health problem due to its high morbidity and disability rates and the poor efficacy of conventional t...

    Authors: Longhai Tan, Junjun Qu and Junxia Wang
    Citation: Human Genomics 2024 18:62
  7. Trace Amine Associated Receptor 1 (TAAR1) is a novel pharmaceutical target under investigation for the treatment of several neuropsychiatric conditions. TAAR1 single nucleotide variants (SNV) have been found i...

    Authors: Britto Shajan, Shashikanth Marri, Tarun Bastiampillai, Karen J. Gregory, Shane D. Hellyer and Pramod C. Nair
    Citation: Human Genomics 2024 18:61
  8. Epidemiological studies have revealed a significant association between impaired kidney function and certain mental disorders, particularly bipolar disorder (BIP) and major depressive disorder (MDD). However, ...

    Authors: Simin Yu, Yifei Lin, Yong Yang, Xi Jin, Banghua Liao, Donghao Lu and Jin Huang
    Citation: Human Genomics 2024 18:60
  9. Liver transplantation (LT) is offered as a cure for Hepatocellular carcinoma (HCC), however 15–20% develop recurrence post-transplant which tends to be aggressive. In this study, we examined the transcriptome ...

    Authors: Jeffrey To, Soumita Ghosh, Xun Zhao, Elisa Pasini, Sandra Fischer, Gonzalo Sapisochin, Anand Ghanekar, Elmar Jaeckel and Mamatha Bhat
    Citation: Human Genomics 2024 18:58
  10. The prevalence of infertility among couples is estimated to range from 8 to 12%. A paradigm shift has occurred in understanding of infertility, challenging the notion that it predominantly affects women. It is...

    Authors: Maryam Hosseini, Anis Khalafiyan, Mohammadreza Zare, Haniye Karimzadeh, Basireh Bahrami, Behnaz Hammami and Mohammad Kazemi
    Citation: Human Genomics 2024 18:57
  11. Although CDKN2A alteration has been explored as a favorable factor for tumorigenesis in pan-cancers, the association between CDKN2A point mutation (MUT) and intragenic deletion (DEL) and response to immune che...

    Authors: Chao Deng, Zi-xi Li, Chen-jun Xie, Qing-lin Zhang, Ben-shun Hu, Mei-dan Wang, Jie Mei, Chen Yang, Zhangfeng Zhong and Ke-wei Wang
    Citation: Human Genomics 2024 18:55
  12. This study evaluated ten nucleic acid extraction protocols (EP1 to EP10) for measuring five endogenous antibiotic resistance genes (ARGs) in four aircraft wastewater samples (AWW1 to AWW4). The targeted ARGs, ...

    Authors: Wendy J. M. Smith, Yawen Liu, Stuart L. Simpson, Aaron Bivins and Warish Ahmed
    Citation: Human Genomics 2024 18:54
  13. The human lineage has undergone a postcranial skeleton gracilization (i.e. lower bone mass and strength relative to body size) compared to other primates and archaic populations such as the Neanderthals. This ...

    Authors: Neus Roca-Ayats, Iago Maceda, Carlos David Bruque, Núria Martínez-Gil, Natàlia Garcia-Giralt, Mónica Cozar, Leonardo Mellibovsky, Wim Van Hul, Oscar Lao, Daniel Grinberg and Susanna Balcells
    Citation: Human Genomics 2024 18:53
  14. The recent article by Harit et al. in Human Genomics reported a novel association of the C allele of rs479200 in the human EGLN1 gene with severe COVID-19 in Indian patients. The gene in context is an oxygen-s...

    Authors: Nimita Deora, Priya Agrohi, Prashant K Mallick and Abhinav Sinha
    Citation: Human Genomics 2024 18:52
  15. This study aimed to identify candidate loci and genes related to sleep disturbances in depressed individuals and clarify the co-occurrence of sleep disturbances and depression from the genetic perspective.

    Authors: Xuena Yang, Bolun Cheng, Shiqiang Cheng, Li Liu, Chuyu Pan, Peilin Meng, Chun’e Li, Yujing Chen, Jingxi Zhang, Huijie Zhang, Zhen Zhang, Yan Wen, Yumeng Jia, Huan Liu and Feng Zhang
    Citation: Human Genomics 2024 18:51
  16. Friedreich ataxia (FRDA) is a life-threatening hereditary ataxia; its incidence is 1:50,000 individuals in the Caucasian population. A unique therapeutic drug for FRDA, the antioxidant Omaveloxolone, has been ...

    Authors: Chiara Vancheri, Andrea Quatrana, Elena Morini, Caterina Mariotti, Alessia Mongelli, Mario Fichera, Alessandra Rufini, Ivano Condò, Roberto Testi, Giuseppe Novelli, Florence Malisan and Francesca Amati
    Citation: Human Genomics 2024 18:50
  17. Given the high prevalence of BPH among elderly men, pinpointing those at elevated risk can aid in early intervention and effective management. This study aimed to explore that polygenic risk score (PRS) is eff...

    Authors: Sheng-Chun Hung, Li-Wen Chang, Tzu-Hung Hsiao, Guan-Cheng Lin, Shian-Shiang Wang, Jian-Ri Li and I-Chieh Chen
    Citation: Human Genomics 2024 18:49
  18. After the occurrence of the COVID-19 pandemic, detection of other disseminated respiratory viruses using highly sensitive molecular methods was declared essential for monitoring the spread of health-threatenin...

    Authors: Anastasia Zafeiriadou, Lazaros Kaltsis, Nikolaos S. Thomaidis and Athina Markou
    Citation: Human Genomics 2024 18:48
  19. Association between genomic variants and athletic performance has seen a high degree of controversy, as there is often conflicting data as far as the association of genomic variants with endurance, speed and s...

    Authors: Aikaterini Psatha, Zeina N. Al-Mahayri, Christina Mitropoulou and George P. Patrinos
    Citation: Human Genomics 2024 18:47
  20. Current clinical diagnosis pathway for lysosomal storage disorders (LSDs) involves sequential biochemical enzymatic tests followed by DNA sequencing, which is iterative, has low diagnostic yield and is costly ...

    Authors: Harsh Sheth, Aadhira Nair, Riddhi Bhavsar, Mahesh Kamate, Vykuntaraju K. Gowda, Ashish Bavdekar, Sandeep Kadam, Sheela Nampoothiri, Inusha Panigrahi, Anupriya Kaur, Siddharth Shah, Sanjeev Mehta, Sujatha Jagadeesan, Indrani Suresh, Seema Kapoor, Shruti Bajaj…
    Citation: Human Genomics 2024 18:46
  21. Implementing genomic sequencing into newborn screening programs allows for significant expansion in the number and scope of conditions detected. We sought to explore public preferences and perspectives on whic...

    Authors: Fiona Lynch, Stephanie Best, Clara Gaff, Lilian Downie, Alison D. Archibald, Christopher Gyngell, Ilias Goranitis, Riccarda Peters, Julian Savulescu, Sebastian Lunke, Zornitza Stark and Danya F. Vears
    Citation: Human Genomics 2024 18:45
  22. A major obstacle faced by families with rare diseases is obtaining a genetic diagnosis. The average "diagnostic odyssey" lasts over five years and causal variants are identified in under 50%, even when capturi...

    Authors: Sarah L. Stenton, Melanie C. O’Leary, Gabrielle Lemire, Grace E. VanNoy, Stephanie DiTroia, Vijay S. Ganesh, Emily Groopman, Emily O’Heir, Brian Mangilog, Ikeoluwa Osei-Owusu, Lynn S. Pais, Jillian Serrano, Moriel Singer-Berk, Ben Weisburd, Michael W. Wilson, Christina Austin-Tse…
    Citation: Human Genomics 2024 18:44
  23. Myasthenia gravis (MG) is a complex autoimmune disease affecting the neuromuscular junction with limited drug options, but the field of MG treatment recently benefits from novel biological agents. We performed...

    Authors: Yuzhen Ouyang, Yu Chen, Kangzhi Chen, Zhenwei Tang, Guanzhong Shi, Chunrun Qu, Kaiyue Zhang and Huan Yang
    Citation: Human Genomics 2024 18:43
  24. The integration of transcriptomic, proteomic, druggable genetic and metabolomic association studies facilitated a comprehensive investigation of molecular features and shared pathways for cancers’ development ...

    Authors: Xin Jin, Yunyun Mei, Puyu Yang, Runze Huang, Haifeng Zhang, Yibin Wu, Miao Wang, Xigan He, Ziting Jiang, Weiping Zhu and Lu Wang
    Citation: Human Genomics 2024 18:42
  25. Congenital anomalies of the kidney and urinary tract (CAKUT) are prevalent birth defects. Although pathogenic CAKUT genes are known, they are insufficient to reveal the causes for all patients. Our previous st...

    Authors: Xuanjin Du, Chunyan Wang, Jialu Liu, Minghui Yu, Haixin Ju, Shanshan Xue, Yaxin Li, Jiaojiao Liu, Rufeng Dai, Jing Chen, Yihui Zhai, Jia Rao, Xiang Wang, Yubo Sun, Lei Sun, Xiaohui Wu…
    Citation: Human Genomics 2024 18:41
  26. CYP2C8 is responsible for the metabolism of 5% of clinically prescribed drugs, including antimalarials, anti-cancer and anti-inflammatory drugs. Genetic variability is an important factor that influences CYP2C...

    Authors: Mahamadou D. Camara, Yitian Zhou, Taís Nóbrega De Sousa, José P. Gil, Abdoulaye A. Djimde and Volker M. Lauschke
    Citation: Human Genomics 2024 18:40
  27. Age-related cataract and hearing difficulties are major sensory disorders that often co-exist in the global-wide elderly and have a tangible influence on the quality of life. However, the epidemiologic associa...

    Authors: Xiayin Zhang, Shan Wang, Shunming Liu, Zijing Du, Guanrong Wu, Yingying Liang, Yu Huang, Xianwen Shang, Yijun Hu, Zhuoting Zhu, Wei Sun, Xueli Zhang and Honghua Yu
    Citation: Human Genomics 2024 18:39
  28. Congenital ichthyosis (CI) is a collective group of rare hereditary skin disorders. Patients present with epidermal scaling, fissuring, chronic inflammation, and increased susceptibility to infections. Recentl...

    Authors: Minh Ho, Huynh-Nga Nguyen, Minh Van Hoang, Tien Thuy Thi Bui, Bao-Quoc Vu, Truc Huong Thi Dinh, Hoa Thi My Vo, Diana C. Blaydon, Sherif A. Eldirany, Christopher G. Bunick and Chi-Bao Bui
    Citation: Human Genomics 2024 18:38
  29. The causal associations of circulating lipids with Barrett’s Esophagus (BE) and Esophageal Cancer (EC) has been a topic of debate. This study sought to elucidate the causality between circulating lipids and th...

    Authors: Baofeng Li, Meng Li, Xiao Qi, Ti Tong and Guangxin zhang
    Citation: Human Genomics 2024 18:37
  30. Systematically predicting the effects of mutations on protein fitness is essential for the understanding of genetic diseases. Indeed, predictions complement experimental efforts in analyzing how variants lead ...

    Authors: Matsvei Tsishyn, Gabriel Cia, Pauline Hermans, Jean Kwasigroch, Marianne Rooman and Fabrizio Pucci
    Citation: Human Genomics 2024 18:36
  31. To investigate the genetics of early-onset progressive cerebellar ataxia in Iran, we conducted a study at the Children’s Medical Center (CMC), the primary referral center for pediatric disorders in the country...

    Authors: Nejat Mahdieh, Morteza Heidari, Zahra Rezaei, Ali Reza Tavasoli, Sareh Hosseinpour, Maryam Rasulinejad, Ali Zare Dehnavi, Masoud Ghahvechi Akbari, Reza Shervin Badv, Elahe Vafaei, Ali Mohebbi, Pouria Mohammadi, Seyyed Mohammad Mahdi Hosseiny, Reza Azizimalamiri, Ali Nikkhah, Elham Pourbakhtyaran…
    Citation: Human Genomics 2024 18:35
  32. Male-pattern baldness (MPB) is the most common cause of hair loss in men. It can be categorized into three types: type 2 (T2), type 3 (T3), and type 4 (T4), with type 1 (T1) being considered normal. Although v...

    Authors: Eunyoung Choi, Jaeseung Song, Yubin Lee, Yeonbin Jeong and Wonhee Jang
    Citation: Human Genomics 2024 18:34
  33. The N6-methyladenosine (m6A) RNA modification plays essential roles in multiple biological processes, including stem cell fate determination. To explore the role of the m6A modification in pluripotent reprogrammi...

    Authors: Wenjun Wang, Lei Zhou, Hui Li, Tingge Sun, Xue Wen, Wei Li, Miguel A. Esteban, Andrew R. Hoffman, Ji-Fan Hu and Jiuwei Cui
    Citation: Human Genomics 2024 18:33
  34. Advanced paternal age (APA) is associated with adverse outcomes to offspring health, including increased risk for neurodevelopmental disorders. The aim of this study was to investigate the methylome and transc...

    Authors: Michelle M. Denomme, Blair R. McCallie, Mary E. Haywood, Jason C. Parks, William B. Schoolcraft and Mandy G. Katz-Jaffe
    Citation: Human Genomics 2024 18:32
  35. Coding mutations in the Transthyretin (TTR) gene cause a hereditary form of amyloidosis characterized by a complex genotype-phenotype correlation with limited information regarding differences among worldwide pop...

    Authors: Antonella De Lillo, Gita A. Pathak, Aislinn Low, Flavio De Angelis, Sarah Abou Alaiwi, Edward J. Miller, Maria Fuciarelli and Renato Polimanti
    Citation: Human Genomics 2024 18:31
  36. SLCO1B1 plays an important role in mediating hepatic clearance of many different drugs including statins, angiotensin-converting enzyme inhibitors, chemotherapeutic agents and antibiotics. Several variants in SLC...

    Authors: Ewa Goljan, Mohammed Abouelhoda, Asma Tahir, Mohamed ElKalioby, Brian Meyer and Dorota Monies
    Citation: Human Genomics 2024 18:30
  37. Chromosomal structural rearrangements consist of anomalies in genomic architecture that may or may not be associated with genetic material gain and loss. Evaluating the precise breakpoint is crucial from a dia...

    Authors: V. Alesi, S. Genovese, M. C. Roberti, E. Sallicandro, S. Di Tommaso, S. Loddo, V. Orlando, D. Pompili, C. Calacci, V. Mei, E. Pisaneschi, M. V. Faggiano, A. Morgia, C. Mammì, G. Astrea, R. Battini…
    Citation: Human Genomics 2024 18:29
  38. In the process of finding the causative variant of rare diseases, accurate assessment and prioritization of genetic variants is essential. Previous variant prioritization tools mainly depend on the in-silico p...

    Authors: Ho Heon Kim, Dong-Wook Kim, Junwoo Woo and Kyoungyeul Lee
    Citation: Human Genomics 2024 18:28
  39. Hemorrhoids and psychiatric disorders exhibit high prevalence rates and a tendency for relapse in epidemiological studies. Despite this, limited research has explored their correlation, and these studies are o...

    Authors: Zhiguang Huang, Jian Huang, Chun Kai Leung, Casper JP Zhang, Babatunde Akinwunmi and Wai-Kit Ming
    Citation: Human Genomics 2024 18:27
  40. 'Benign ethnic neutropenia' (BEN) is a heritable condition characterized by lower neutrophil counts, predominantly observed in individuals of African ancestry, and the genetic basis of BEN remains a subject of...

    Authors: Andrei-Emil Constantinescu, David A. Hughes, Caroline J. Bull, Kathryn Fleming, Ruth E. Mitchell, Jie Zheng, Siddhartha Kar, Nicholas J. Timpson, Borko Amulic and Emma E. Vincent
    Citation: Human Genomics 2024 18:26
  41. Protein Phosphatase Enzymes (PPE) and protein kinases simultaneously control phosphorylation mechanisms that tightly regulate intracellular signalling pathways and stimulate cellular responses. In human malign...

    Authors: Edward Wiltshire, Manuel Castro de Moura, David Piñeyro and Ricky S. Joshi
    Citation: Human Genomics 2024 18:24
  42. Rare genetic disorders causing specific congenital developmental abnormalities often manifest in single families. Investigation of disease-causing molecular features are most times lacking, although these inve...

    Authors: Asuman Koparir, Caroline Lekszas, Kemal Keseroglu, Thalia Rose, Lena Rappl, Aboulfazl Rad, Reza Maroofian, Nakul Narendran, Atefeh Hasanzadeh, Ehsan Ghayoor Karimiani, Felix Boschann, Uwe Kornak, Eva Klopocki, Ertuğrul M. Özbudak, Barbara Vona, Thomas Haaf…
    Citation: Human Genomics 2024 18:23
  43. Single-nucleotide variants (SNVs) within gene coding sequences can significantly impact pre-mRNA splicing, bearing profound implications for pathogenic mechanisms and precision medicine. In this study, we aim ...

    Authors: Hao Wu, Jin-Huan Lin, Xin-Ying Tang, Gaëlle Marenne, Wen-Bin Zou, Sacha Schutz, Emmanuelle Masson, Emmanuelle Génin, Yann Fichou, Gerald Le Gac, Claude Férec, Zhuan Liao and Jian-Min Chen
    Citation: Human Genomics 2024 18:21

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