The Section “Molecular Genetics and Genetic Diseases” covers the basic and translational aspects of human genetic diseases and genomics research, from fundamental molecular investigation to preclinical animal models. In particular, this Section aims to facilitate the rapid publication of innovative research encompassing the genetic basis of human health and disease, as well as the treatment of genetic disorders, and heritable or acquired cancers. We welcome submissions that apply new and emerging technologies in the fields of genomics, transcriptomics and bioinformatic tools to advance knowledge in human genetic diseases. In this context, we are pleased to feature some recently published papers on molecular genetics and genetic diseases in Biomedicines (ISSN: 2227-9059), which provide valuable insights into this exciting field.

Read freely the following papers:

1. “Perspectives in Sports Genomics”
by Valentina Ginevičienė, Algirdas Utkus, Erinija Pranckevičienė, Ekaterina A. Semenova, Elliott C. R. Hall and Ildus I. Ahmetov
Biomedicines 2022, 10(2), 298; https://doi.org/10.3390/biomedicines10020298
Available online: https://www.mdpi.com/2227-9059/10/2/298

2. “Bilateral Adrenal Hyperplasia: Pathogenesis and Treatment”
by Benjamin Chevalier, Marie-Christine Vantyghem and Stéphanie Espiard
Biomedicines 2021, 9(10), 1397; https://doi.org/10.3390/biomedicines9101397
Available online: https://www.mdpi.com/2227-9059/9/10/1397

3. “Nonsense-Mediated mRNA Decay, a Finely Regulated Mechanism”
by Fabrice Lejeune
Biomedicines 2022, 10(1), 141; https://doi.org/10.3390/biomedicines10010141
Available online: https://www.mdpi.com/2227-9059/10/1/141

4. “UPF1: From mRNA Surveillance to Protein Quality Control”
by Hyun Jung Hwang, Yeonkyoung Park and Yoon Ki Kim
Biomedicines 2021, 9(8), 995; https://doi.org/10.3390/biomedicines9080995
Available online: https://www.mdpi.com/2227-9059/9/8/995

5. “Implication of Sphingolipid Metabolism Gene Dysregulation and Cardiac Sphingosine-1-Phosphate Accumulation in Heart Failure”
by Lorena Pérez-Carrillo, Isaac Giménez-Escamilla, Luis Martínez-Dolz, Ignacio José Sánchez-Lázaro, Manuel Portolés, Esther Roselló-Lletí and Estefanía Tarazón
Biomedicines 2022, 10(1), 135; https://doi.org/10.3390/biomedicines10010135
Available online: https://www.mdpi.com/2227-9059/10/1/135

6. “Estrogen-Like Effect of Mitotane Explained by Its Agonist Activity on Estrogen Receptor-α”
by Elisa Rossini, Edoardo Giacopuzzi, Fabrizio Gangemi, Mariangela Tamburello, Deborah Cosentini, Andrea Abate, Marta Laganà, Alfredo Berruti, Salvatore Grisanti and Sandra Sigala
Biomedicines 2021, 9(6), 681; https://doi.org/10.3390/biomedicines9060681
Available online: https://www.mdpi.com/2227-9059/9/6/681

7. “Diagnostic Accuracy of Dehydroepiandrosterone Sulfate and Corticotropin in Autonomous Cortisol Secretion”
by Lindsay E. Carafone, Catherine D. Zhang, Dingfeng Li, Natalia Lazik, Oksana Hamidi, Maria Daniela Hurtado, William F. Young, Jr., Melinda A. Thomas, Benzon M. Dy, Melanie L. Lyden et al.
Biomedicines 2021, 9(7), 741; https://doi.org/10.3390/biomedicines9070741
Available online: https://www.mdpi.com/2227-9059/9/7/741

8. “Novel Translational Read-through–Inducing Drugs as a Therapeutic Option for Shwachman-Diamond Syndrome”
by Valentino Bezzerri, Laura Lentini, Martina Api, Elena Marinelli Busilacchi, Vincenzo Cavalieri, Antonella Pomilio, Francesca Diomede, Anna Pegoraro, Simone Cesaro, Antonella Poloni et al.
Biomedicines 2022, 10(4), 886; https://doi.org/10.3390/biomedicines10040886
Available online: https://www.mdpi.com/2227-9059/10/4/886

9. “Genetic Alterations in Benign Adrenal Tumors”
by Georgia Pitsava and Constantine A. Stratakis
Biomedicines 2022, 10(5), 1041; https://doi.org/10.3390/biomedicines10051041
Available online: https://www.mdpi.com/2227-9059/10/5/1041

10. “Cochlear Implantation Outcomes in Patients with Auditory Neuropathy Spectrum Disorder of Genetic and Non-Genetic Etiologies: A Multicenter Study”
by Pei-Hsuan Lin, Hung-Pin Wu, Che-Ming Wu, Yu-Ting Chiang, Jacob Shujui Hsu, Cheng-Yu Tsai, Han Wang, Li-Hui Tseng, Pey-Yu Chen, Ting-Hua Yang et al.
Biomedicines 2022, 10(7), 1523; https://doi.org/10.3390/biomedicines10071523
Available online: https://www.mdpi.com/2227-9059/10/7/1523

We would like to take this opportunity to thank all the research groups that submitted manuscripts to Biomedicines. We would appreciate it if you would circulate this document among your colleagues and network. Furthermore, the following opportunities for collaboration may be of interest:

Submitting a manuscript:
This Section is currently open for submissions. Papers may be submitted via the following link: https://susy.mdpi.com/user/manuscripts/upload/f17a01dbff7541081d1092edf09cd870?form%5Bjournal_id%5D=158.

Launching a Special Issue:
You have the opportunity to propose hot topics and edit a Special Issue together with experts in the field. Proposals may be submitted via the following link: https://www.mdpi.com/journalproposal/sendproposalspecialissue/biomedicines.

Joining the Editorial Board:
We are looking for active scholars who are interested in helping with the selection of submissions. Please do not hesitate to get in touch if you are interested in joining the Editorial Board (biomedicines@mdpi.com).

Biomedicines Editorial Office