Genes, Vol. 15, Pages 508: Spectrum of ERCC6-Related Cockayne Syndrome (Type B): From Mild to Severe Forms Genes doi: 10.3390/genes15040508 Authors: Jacopo Sartorelli Lorena Travaglini Marina Macchiaiolo Giacomo Garone Michaela Veronika Gonfiantini Davide Vecchio Lorenzo Sinibaldi Flaminia Frascarelli Viola Ceccatelli Sara Petrillo Fiorella Piemonte Gabriele Piccolo Antonio Novelli Daniela Longo Stefano Pro Adele D’Amico Enrico Silvio Bertini Francesco Nicita (1) Background: Cockayne syndrome (CS) is an ultra-rare multisystem disorder, classically subdivided into three forms and characterized ..read more

Genes, Vol. 15, Pages 506: Complete Mitochondrial Genome for Lucilia cuprina dorsalis (Diptera: Calliphoridae) from the Northern Territory, Australia Genes doi: 10.3390/genes15040506 Authors: Shilpa Kapoor Ying Ting Yang Robyn N. Hall Robin B. Gasser Vernon M. Bowles Trent Perry Clare A. Anstead The Australian sheep blowfly, Lucilia cuprina dorsalis, is a major sheep ectoparasite causing subcutaneous myiasis (flystrike), which can lead to reduced livestock productivity and, in severe instances, death of the affected animals. It is also a primary colonizer of carrion, an efficient pollinator, a ..read more

Genes, Vol. 15, Pages 505: Clinical Decision Analysis of Genetic Evaluation and Testing in 1013 Intensive Care Unit Infants with Congenital Heart Defects Supports Universal Genetic Testing Genes doi: 10.3390/genes15040505 Authors: Benjamin M. Helm Stephanie M. Ware Extracardiac anomalies (ECAs) are strong predictors of genetic disorders in infants with congenital heart disease (CHD), but there are no prior studies assessing performance of ECA status as a screen for genetic diagnoses in CHD patients. This retrospective cohort study assessed this in our comprehensive inpatient CHD genetics servi ..read more

Genes, Vol. 15, Pages 507: Assessment of the Effect of Leonurine Hydrochloride in a Mouse Model of PCOS by Gene Expression Profiling Genes doi: 10.3390/genes15040507 Authors: Mengmeng Wang Li Yang Guojie Sun Yongbin Shao Yuran Liu Huiying Yang Yan Wang Mengyuan Zhang Yunxia Shang Xinli Gu Polycystic ovary syndrome (PCOS) is an endocrine disease commonly associated with metabolic disorders in females. Leonurine hydrochloride (Leo) plays an important role in regulating immunity, tumours, uterine smooth muscle, and ovarian function. However, the effect of Leo on PCOS has not been reported. Here ..read more

Genes, Vol. 15, Pages 511: An R2R3-MYB Transcriptional Factor LuMYB314 Associated with the Loss of Petal Pigmentation in Flax (Linum usitatissimum L.) Genes doi: 10.3390/genes15040511 Authors: Dongliang Guo Haixia Jiang Liqiong Xie The loss of anthocyanin pigments is one of the most common evolutionary transitions in petal color, yet the genetic basis for these changes in flax remains largely unknown. In this study, we used crossing studies, a bulk segregant analysis, genome-wide association studies, a phylogenetic analysis, and transgenic testing to identify genes responsible for the transiti ..read more

Genes, Vol. 15, Pages 509: Research Progress and Applications of Bovine Genome in the Tribe Bovini Genes doi: 10.3390/genes15040509 Authors: Xingjie Du Yu Sun Tong Fu Tengyun Gao Tianliu Zhang Various bovine species have been domesticated and bred for thousands of years, and they provide adequate animal-derived products, including meat, milk, and leather, to meet human requirements. Despite the review studies on economic traits in cattle, the genetic basis of traits has only been partially explained by phenotype and pedigree breeding methods, due to the complexity of genomic regulation during ..read more

Genes, Vol. 15, Pages 510: Biogeographical Ancestry Analyses Using the ForenSeqTM DNA Signature Prep Kit and Multiple Prediction Tools Genes doi: 10.3390/genes15040510 Authors: Nina Mjølsnes Salvo Gunn-Hege Olsen Thomas Berg Kirstin Janssen The inference of biogeographical ancestry (BGA) can assist in police investigations of serious crime cases and help to identify missing people and victims of mass disasters. In this study, we evaluated the typing performance of 56 ancestry-informative SNPs in 177 samples using the ForenSeq™ DNA Signature Prep Kit on the MiSeq FGx system. Furth ..read more

Genes, Vol. 15, Pages 501: Principles in the Management of Glioblastoma Genes doi: 10.3390/genes15040501 Authors: Domingos Roda Pedro Veiga Joana Barbosa Melo Isabel Marques Carreira Ilda Patrícia Ribeiro Glioblastoma, the most aggressive and common malignant primary brain tumour, is characterized by infiltrative growth, abundant vascularization, and aggressive clinical evolution. Patients with glioblastoma often face poor prognoses, with a median survival of approximately 15 months. Technological progress and the subsequent improvement in understanding the pathophysiology of these tumours hav ..read more

Genes, Vol. 15, Pages 502: The Impact of Blood Sample Processing on Ribonucleic Acid (RNA) Sequencing Genes doi: 10.3390/genes15040502 Authors: Zhiyu Liu Tinglan Ouyang Yuwei Yang Yuqi Sheng Huajuan Shi Quanjun Liu Yunfei Bai Qinyu Ge In gene quantification and expression analysis, issues with sample selection and processing can be serious, as they can easily introduce irrelevant variables and lead to ambiguous results. This study aims to investigate the extent and mechanism of the impact of sample selection and processing on ribonucleic acid (RNA) sequencing. RNA from PBMCs and blood samples ..read more

Genes, Vol. 15, Pages 503: Genetic and Epigenetic Associations with Post-Transplant Diabetes Mellitus Genes doi: 10.3390/genes15040503 Authors: Zeinab Abdelrahman Alexander Peter Maxwell Amy Jayne McKnight Post-transplant diabetes mellitus (PTDM) is a common complication of solid organ transplantation. PTDM prevalence varies due to different diabetes definitions. Consensus guidelines for the diagnosis of PTDM have been published based on random blood glucose levels, glycated hemoglobin (HbA1c), and oral glucose tolerance test (OGTT). The task of diagnosing PTDM continues to pose challenges, gi ..read more