Search for Articles:
Title / Keyword
Author / Affiliation / Email
Journal
Article Type
 
 
Advanced Search
 
Section
Special Issue
Volume
Issue
Number
Page
 
5.2
2.8
Journals
Genes
Special Issues
Feature Papers in Human Genomics and Genetic Diseases 2024
share announcement

Feature Papers in Human Genomics and Genetic Diseases 2024

A special issue of Genes (ISSN 2073-4425). This special issue belongs to the section "Human Genomics and Genetic Diseases".

Deadline for manuscript submissions: 25 December 2024 | Viewed by 7471

Special Issue Editor

Prof. Dr. Mariarosa Anna Beatrice Melone

E-Mail Website
Guest Editor
1. Department of Medical and Surgical Advanced Sciences Second Division of Neurology, Center for Rare Neurological and Neuromuscular Diseases & Inter University Center for Research in Neurosciences, University of Campania Luigi Vanvitelli, Naples, Italy
2. Sbarro Institute for Cancer Research and Molecular Medicine, Department of Biology, Center for Biotechnology, College of Science and Technology, Temple University, Philadelphia, PA, USA
Interests: genetics of rare neurologic and neuromuscular diseases; translational neurogenetics; clinical & molecular neurogenetics; applied stem cell biology; systems neuroscience; neuropathology and experimental neurobiology; nanotechnology in nutraceuticals and functional fods; roles of autophagy in neurodegenerative diseases; clinical neurology of adults and children
Special Issues, Collections and Topics in MDPI journals

Special Issue Information

Dear Colleagues,

This Special Issue, entitled “Feature Papers in Human Genomics and Genetic Diseases 2024”, aims to collect high-quality review articles or research articles on all aspects of human health and disease, as well as the diagnosis, treatment, and prognosis of genetic disorders, and heritable or acquired cancers. It is dedicated to recent advances in the research area of genomics and genetics and comprises a selection of exclusive papers from the Editorial Board Members (EBMs) of the Human Genomics and Genetic Section, as well as invited papers from relevant experts. We also welcome senior experts in the field to contribute to this Special Issue. We aim to represent our Section as an attractive open access publishing platform for genomics and genetic research.

Prof. Dr. Mariarosa Anna Beatrice Melone
Guest Editor

Manuscript Submission Information

Manuscripts should be submitted online at www.mdpi.com by registering and logging in to this website. Once you are registered, click here to go to the submission form. Manuscripts can be submitted until the deadline. All submissions that pass pre-check are peer-reviewed. Accepted papers will be published continuously in the journal (as soon as accepted) and will be listed together on the special issue website. Research articles, review articles as well as short communications are invited. For planned papers, a title and short abstract (about 100 words) can be sent to the Editorial Office for announcement on this website.

Submitted manuscripts should not have been published previously, nor be under consideration for publication elsewhere (except conference proceedings papers). All manuscripts are thoroughly refereed through a single-blind peer-review process. A guide for authors and other relevant information for submission of manuscripts is available on the Instructions for Authors page. Genes is an international peer-reviewed open access monthly journal published by MDPI.

Please visit the Instructions for Authors page before submitting a manuscript. The Article Processing Charge (APC) for publication in this open access journal is 2600 CHF (Swiss Francs). Submitted papers should be well formatted and use good English. Authors may use MDPI's English editing service prior to publication or during author revisions.

Keywords

  • genetics of monogenic diseases and complex diseases
  • genotype–phenotype relationships
  • population genomics and genetic epidemiology
  • precision medicine
  • pharmacogenetics and pharmacogenomics
  • targeted genome editing
  • gene therapy and delivery systems
  • genetically engineered cell therapy
  • RNA- and small nucleic acid-based therapeutics
  • genetic testing and molecular diagnostics, biomarker development and application
  • genome-wide association studies
  • epigenetic therapy
  • developmental genetics, epigenetics, and epigenomics

Benefits of Publishing in a Special Issue

  • Ease of navigation: Grouping papers by topic helps scholars navigate broad scope journals more efficiently.
  • Greater discoverability: Special Issues support the reach and impact of scientific research. Articles in Special Issues are more discoverable and cited more frequently.
  • Expansion of research network: Special Issues facilitate connections among authors, fostering scientific collaborations.
  • External promotion: Articles in Special Issues are often promoted through the journal's social media, increasing their visibility.
  • e-Book format: Special Issues with more than 10 articles can be published as dedicated e-books, ensuring wide and rapid dissemination.

Further information on MDPI's Special Issue polices can be found here.

Published Papers (6 papers)

Download All Papers
Order results
Result details
Show export options expand_more Show export options expand_less
Select all
Export citation of selected articles as:

Research

Jump to: Review

12 pages, 1785 KiB  
Article
Sleep Abnormalities in SLC13A5 Citrate Transporter Disorder
by Raegan M. Adams, Can Ozlu, Lauren E. Bailey, Rayann M. Solidum, Sydney Cooper, Carrie R. Best, Jennifer Elacio, Brian C. Kavanaugh, Tanya L. Brown, Kimberly Nye, Judy Liu, Brenda E. Porter, Kimberly Goodspeed and Rachel M. Bailey
Genes 2024, 15(10), 1338; https://doi.org/10.3390/genes15101338 - 18 Oct 2024
Viewed by 771
Abstract
Background: SLC13A5 Citrate Transporter Disorder is a rare pediatric neurodevelopmental disorder. Patients have epilepsy, developmental disability, and impaired mobility. While sleep disorders are common in children with neurodevelopmental disorders, sleep abnormalities have not been reported in SLC13A5 patients. Methods: Here, we assessed sleep [...] Read more.
Background: SLC13A5 Citrate Transporter Disorder is a rare pediatric neurodevelopmental disorder. Patients have epilepsy, developmental disability, and impaired mobility. While sleep disorders are common in children with neurodevelopmental disorders, sleep abnormalities have not been reported in SLC13A5 patients. Methods: Here, we assessed sleep disturbances in patients through caregiver reported surveys and in a transgenic mouse model of SLC13A5 deficiency. A total of 26 patients were evaluated with the Sleep Disturbance Scale for Children three times over a one-year span. Sleep and wake activities were assessed in the SLC13A5 knock-out (KO) mice using wireless telemetry devices. Results: A high burden of clinically significant sleep disturbances were reported in the patients, with heterogeneous symptoms that remained stable across time. While sleep disturbances were common, less than 30% of patients were prescribed medications for sleep. Comparatively, in SLC13A5 KO mice using EEG recordings, significant alterations were found during light cycles, when rodents typically sleep. During the sleep period, SLC13A5 mice had increased activity, decreased paradoxical sleep, and changes in absolute power spectral density, indicating altered sleep architecture in the mouse model. Conclusions: Our results demonstrate a significant component of sleep disturbances in SLC13A5 patients and mice, highlighting a potential gap in patient care. Further investigation of sleep dysfunction and the underlying etiologies of sleep disturbances in SLC13A5 citrate transporter disorder is warranted. Full article
(This article belongs to the Special Issue Feature Papers in Human Genomics and Genetic Diseases 2024)
►▼ Show Figures

Graphical abstract

11 pages, 824 KiB  
Article
APOBR Is Downregulated in EBV+ Tonsils of Children with Obstructive Sleep-Disordered Breathing
by Regie Lyn P. Santos-Cortez, Helen Z. Gomez, Christina L. Elling, Landen Mayher, Obinna R. Diala, Colin Gardner, Kiera Willford, Valerie C. Zamora, Ashley Agyepong, Nam K. Lee, Katherine K. Green, Owen A. Darr, Todd M. Wine, Christian R. Francom, Eric D. Larson, Sarah A. Gitomer, Amy E. Schell, Daniel N. Frank, Norman R. Friedman and Brian W. Herrmann
Genes 2024, 15(10), 1324; https://doi.org/10.3390/genes15101324 - 14 Oct 2024
Viewed by 887
Abstract
Background: Obstructive sleep-disordered breathing (oSDB) is a heterogeneous phenotype that is increasing in prevalence worldwide and has many potential comorbidities that could severely affect quality of life. There is a need to identify biomarkers for oSDB and its comorbidities to improve clinical management, [...] Read more.
Background: Obstructive sleep-disordered breathing (oSDB) is a heterogeneous phenotype that is increasing in prevalence worldwide and has many potential comorbidities that could severely affect quality of life. There is a need to identify biomarkers for oSDB and its comorbidities to improve clinical management, particularly in children. Methods: We performed bulk mRNA-sequencing, differential expression analysis, and qPCR replication of selected differentially expressed genes (DEGs) using RNA samples extracted from tonsils of children with oSDB. Two variables were used as classifier, namely, detection of Epstein–Barr virus (EBV) in tonsils and need for continuous positive airway pressure (CPAP) treatment. Standard statistical tests were used to determine associations across clinical, EBV, and DEG variables. Results: Nineteen genes were dysregulated in tonsils that are EBV+ or from children needing CPAP. Of these genes, APOBR was downregulated in both EBV+ and CPAP+ tonsils, and this downregulation was replicated by qPCR in an independent set of pediatric samples. In the tonsils of adult patients with oSDB, APOBR was positively correlated with age, and potentially with diastolic blood pressure. Conclusions: Taken together, APOBR and DEGs in tonsillar tissues may be useful as potential biomarkers of oSDB severity and comorbidity across the lifespan, with APOBR levels being dependent on latent EBV infection. Full article
(This article belongs to the Special Issue Feature Papers in Human Genomics and Genetic Diseases 2024)
►▼ Show Figures

Figure 1

21 pages, 2018 KiB  
Article
Activation of the CDK7 Gene, Coding for the Catalytic Subunit of the Cyclin-Dependent Kinase (CDK)-Activating Kinase (CAK) and General Transcription Factor II H, by the Trans-Activator Protein Tax of Human T-Cell Leukemia Virus Type-1
by Mashiro Shirasawa, Rinka Nakajima, Yaxuan Zhou, Lin Zhao, Mariana Fikriyanti, Ritsuko Iwanaga, Andrew P. Bradford, Kenta Kurayoshi, Keigo Araki and Kiyoshi Ohtani
Genes 2024, 15(8), 1080; https://doi.org/10.3390/genes15081080 - 15 Aug 2024
Viewed by 816
Abstract
Human T-cell leukemia virus type-1 (HTLV-1) is the etiological agent of adult T-cell leukemia (ATL). The trans-activator protein Tax of HTLV-1 plays crucial roles in leukemogenesis by promoting proliferation of virus-infected cells through activation of growth-promoting genes. However, critical target genes are yet [...] Read more.
Human T-cell leukemia virus type-1 (HTLV-1) is the etiological agent of adult T-cell leukemia (ATL). The trans-activator protein Tax of HTLV-1 plays crucial roles in leukemogenesis by promoting proliferation of virus-infected cells through activation of growth-promoting genes. However, critical target genes are yet to be elucidated. We show here that Tax activates the gene coding for cyclin-dependent kinase 7 (CDK7), the essential component of both CDK-activating kinase (CAK) and general transcription factor TFIIH. CAK and TFIIH play essential roles in cell cycle progression and transcription by activating CDKs and facilitating transcriptional initiation, respectively. Tax induced CDK7 gene expression not only in human T-cell lines but also in normal peripheral blood lymphocytes (PHA-PBLs) along with increased protein expression. Tax stimulated phosphorylation of CDK2 and RNA polymerase II at sites reported to be mediated by CDK7. Tax activated the CDK7 promoter through the NF-κB pathway, which mainly mediates cell growth promotion by Tax. Knockdown of CDK7 expression reduced Tax-mediated induction of target gene expression and cell cycle progression. These results suggest that the CDK7 gene is a crucial target of Tax-mediated trans-activation to promote cell proliferation by activating CDKs and transcription. Full article
(This article belongs to the Special Issue Feature Papers in Human Genomics and Genetic Diseases 2024)
►▼ Show Figures

Figure 1

10 pages, 3509 KiB  
Article
Simultaneous Detection of Common Founder Mutations Using a Cost-Effective Deep Sequencing Panel
by Sapir Shalom, Mor Hanany, Avital Eilat, Itay Chowers, Tamar Ben-Yosef, Samer Khateb, Eyal Banin and Dror Sharon
Genes 2024, 15(5), 646; https://doi.org/10.3390/genes15050646 - 20 May 2024
Cited by 1 | Viewed by 1145
Abstract
Inherited retinal diseases (IRDs) are a clinically and genetically heterogeneous group of diseases which cause visual loss due to Mendelian mutations in over 250 genes, making genetic diagnosis challenging and time-consuming. Here, we developed a new tool, CDIP (Cost-effective Deep-sequencing IRD Panel) in [...] Read more.
Inherited retinal diseases (IRDs) are a clinically and genetically heterogeneous group of diseases which cause visual loss due to Mendelian mutations in over 250 genes, making genetic diagnosis challenging and time-consuming. Here, we developed a new tool, CDIP (Cost-effective Deep-sequencing IRD Panel) in which a simultaneous sequencing of common mutations is performed. CDIP is based on simultaneous amplification of 47 amplicons harboring common mutations followed by next-generation sequencing (NGS). Following five rounds of calibration of NGS-based steps, CDIP was used in 740 IRD samples. The analysis revealed 151 mutations in 131 index cases. In 54 (7%) of these cases, CDIP identified the genetic cause of disease (the remaining were single-heterozygous recessive mutations). These include a patient that was clinically diagnosed with retinoschisis and found to be homozygous for NR2E3-c.932G>A (p.R311Q), and a patient with RP who is hemizygous for an RPGR variant, c.292C>A (p.H98N), which was not included in the analysis but is located in proximity to one of these mutations. CDIP is a cost-effective deep sequencing panel for simultaneous detection of common founder mutations. This protocol can be implemented for additional populations as well as additional inherited diseases, and mainly in populations with strong founder effects. Full article
(This article belongs to the Special Issue Feature Papers in Human Genomics and Genetic Diseases 2024)
►▼ Show Figures

Figure 1

20 pages, 4800 KiB  
Article
Single-Cell Transcriptomic Profiling Identifies Molecular Phenotypes of Newborn Human Lung Cells
by Soumyaroop Bhattacharya, Jacquelyn A. Myers, Cameron Baker, Minzhe Guo, Soula Danopoulos, Jason R. Myers, Gautam Bandyopadhyay, Stephen T. Romas, Heidie L. Huyck, Ravi S. Misra, Jennifer Dutra, Jeanne Holden-Wiltse, Andrew N. McDavid, John M. Ashton, Denise Al Alam, S. Steven Potter, Jeffrey A. Whitsett, Yan Xu, Gloria S. Pryhuber and Thomas J. Mariani
Genes 2024, 15(3), 298; https://doi.org/10.3390/genes15030298 - 26 Feb 2024
Cited by 4 | Viewed by 2805
Abstract
While animal model studies have extensively defined the mechanisms controlling cell diversity in the developing mammalian lung, there exists a significant knowledge gap with regards to late-stage human lung development. The NHLBI Molecular Atlas of Lung Development Program (LungMAP) seeks to fill this [...] Read more.
While animal model studies have extensively defined the mechanisms controlling cell diversity in the developing mammalian lung, there exists a significant knowledge gap with regards to late-stage human lung development. The NHLBI Molecular Atlas of Lung Development Program (LungMAP) seeks to fill this gap by creating a structural, cellular and molecular atlas of the human and mouse lung. Transcriptomic profiling at the single-cell level created a cellular atlas of newborn human lungs. Frozen single-cell isolates obtained from two newborn human lungs from the LungMAP Human Tissue Core Biorepository, were captured, and library preparation was completed on the Chromium 10X system. Data was analyzed in Seurat, and cellular annotation was performed using the ToppGene functional analysis tool. Transcriptional interrogation of 5500 newborn human lung cells identified distinct clusters representing multiple populations of epithelial, endothelial, fibroblasts, pericytes, smooth muscle, immune cells and their gene signatures. Computational integration of data from newborn human cells and with 32,000 cells from postnatal days 1 through 10 mouse lungs generated by the LungMAP Cincinnati Research Center facilitated the identification of distinct cellular lineages among all the major cell types. Integration of the newborn human and mouse cellular transcriptomes also demonstrated cell type-specific differences in maturation states of newborn human lung cells. Specifically, newborn human lung matrix fibroblasts could be separated into those representative of younger cells (n = 393), or older cells (n = 158). Cells with each molecular profile were spatially resolved within newborn human lung tissue. This is the first comprehensive molecular map of the cellular landscape of neonatal human lung, including biomarkers for cells at distinct states of maturity. Full article
(This article belongs to the Special Issue Feature Papers in Human Genomics and Genetic Diseases 2024)
►▼ Show Figures

Figure 1

Review

Jump to: Research

33 pages, 462 KiB  
Review
Hereditary Neuromuscular Disorders in Reproductive Medicine
by Agnese Luglio, Elena Maggi, Francesco Nicola Riviello, Alessandro Conforti, Ugo Sorrentino and Daniela Zuccarello
Genes 2024, 15(11), 1409; https://doi.org/10.3390/genes15111409 - 30 Oct 2024
Viewed by 444
Abstract
Neuromuscular disorders (NMDs) encompass a broad range of hereditary and acquired conditions that affect motor units, significantly impacting patients’ quality of life and reproductive health. This narrative review aims to explore in detail the reproductive challenges associated with major hereditary NMDs, including Charcot–Marie–Tooth [...] Read more.
Neuromuscular disorders (NMDs) encompass a broad range of hereditary and acquired conditions that affect motor units, significantly impacting patients’ quality of life and reproductive health. This narrative review aims to explore in detail the reproductive challenges associated with major hereditary NMDs, including Charcot–Marie–Tooth disease (CMT), dystrophinopathies, Myotonic Dystrophy (DM), Facioscapulohumeral Muscular Dystrophy (FSHD), Spinal Muscular Atrophy (SMA), Limb–Girdle Muscular Dystrophy (LGMD), and Amyotrophic Lateral Sclerosis (ALS). Specifically, it discusses the stages of diagnosis and genetic testing, recurrence risk estimation, options for preimplantation genetic testing (PGT) and prenatal diagnosis (PND), the reciprocal influence between pregnancy and disease, potential obstetric complications, and risks to the newborn. Full article
(This article belongs to the Special Issue Feature Papers in Human Genomics and Genetic Diseases 2024)
Show export options expand_more Show export options expand_less
Select all
Export citation of selected articles as:
 
Displaying articles 1-6
Back to TopTop