Molecular Effects of Mutations in Human Genetic Diseases

Emanuela Leonardi^{1

2}, Castrense Savojardo³, Giovanni Minervini⁴

Affiliations

¹ Department of Woman and Child Health, University of Padova, 35128 Padova, Italy.
² Pediatric Research Institute, Città della Speranza, 35127 Padova, Italy.
³ Dipartimento di Farmacia e Biotecnologie, University of Bologna, 40126 Bologna, Italy.
⁴ Department of Biomedical Science, University of Padova, 35131 Padova, Italy.

Editorial

Emanuela Leonardi et al. Int J Mol Sci. 2022.

. 2022 Jun 8;23(12):6408.

doi: 10.3390/ijms23126408.

Emanuela Leonardi^{1

2}, Castrense Savojardo³, Giovanni Minervini⁴

¹ Department of Woman and Child Health, University of Padova, 35128 Padova, Italy.
² Pediatric Research Institute, Città della Speranza, 35127 Padova, Italy.
³ Dipartimento di Farmacia e Biotecnologie, University of Bologna, 40126 Bologna, Italy.
⁴ Department of Biomedical Science, University of Padova, 35131 Padova, Italy.

Abstract

Next-generation sequencing (NGS) has enormously improved the identification of disease-candidate genetic variants [...].

The authors declare no conflict of interest.

1. Diabasana Z., Perotin J.-M., Belgacemi R., Ancel J., Mulette P., Launois C., Delepine G., Dubernard X., Mérol J.-C., Ruaux C., et al. Chr15q25 Genetic Variant rs16969968 Alters Cell Differentiation in Respiratory Epithelia. Int. J. Mol. Sci. 2021;22:6657. doi: 10.3390/ijms22136657. - DOI - PMC - PubMed
1. Rocca M.S., Minervini G., di Nisio A., Merico M., Marinas M.B., de Toni L., Pilichou K., Garolla A., Foresta C., Ferlin A. Identification of Rare LRP5 Variants in a Cohort of Males with Impaired Bone Mass. Int. J. Mol. Sci. 2021;22:10834. doi: 10.3390/ijms221910834. - DOI - PMC - PubMed
1. Oertli A., Rinné S., Moss R., Kääb S., Seemann G., Beckmann B.-M., Decher N. Molecular Mechanism of Autosomal Recessive Long QT-Syndrome 1 without Deafness. Int. J. Mol. Sci. 2021;22:1112. doi: 10.3390/ijms22031112. - DOI - PMC - PubMed
1. Van Rijn J.M., Werner L., Aydemir Y., Spronck J., Pode-Shakked B., van Hoesel M., Shimshoni E., Polak-Charcon S., Talmi L., Eren M., et al. Enhanced Collagen Deposition in the Duodenum of Patients with Hyaline Fibromatosis Syndrome and Protein Losing Enteropathy. Int. J. Mol. Sci. 2020;21:8200. doi: 10.3390/ijms21218200. - DOI - PMC - PubMed
1. Beilin A.K., Evtushenko N.A., Lukyanov D.K., Murashkin N., Ambarchian E., Pushkov A., Savostyanov K., Fisenko A., Rogovaya O., Vasiliev A., et al. Signatures of Dermal Fibroblasts from RDEB Pediatric Patients. Int. J. Mol. Sci. 2021;22:1792. doi: 10.3390/ijms22041792. - DOI - PMC - PubMed