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Genes, Volume 15, Issue 2

2024 February - 120 articles

Cover Story: Spitz melanocytic tumors are a diverse group of neoplasms, ranging from totally benign to overtly malignant. Although morphology remains the cornerstone of surgical pathology practice, incorporating immunohistochemical and molecular genetic findings has been reaching grounds to achieve a timely and accurate diagnosis. This applies particularly in the case of Spitz tumors, since most of them are driven by oncogenic fusions. The cover composite depicts a melanocytic neoplasm with typical morphologic features of Spitz nevus in the central area. On the left, immunohistochemical expression of ROS1 protein can be detected in Spitz neoplasms with ROS1 fusions. On the right, break apart FISH with probes for ROS1 demonstrate breakage of red and green signal, confirming a ROS1 gene rearrangement. View this paper
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Articles (120)

  • Feature Paper
  • Article
  • Open Access
2 Citations
4,559 Views
11 Pages

Optimization of HIV Sequencing Method Using Vela Sentosa Library on Miseq Ilumina Platform

  • Nasserdine Papa Mze,
  • Cécile Fernand-Laurent,
  • Solen Daugabel,
  • Olfa Zanzouri and
  • Stéphanie Marque Juillet

19 February 2024

Genotypic testing is often recommended to improve the management of patients infected with human immunodeficiency virus (HIV). To help combat this major pandemic, next-generation sequencing (NGS) techniques are widely used to analyse resistance to an...

(This article belongs to the Section Technologies and Resources for Genetics)
  • Article
  • Open Access
12 Citations
3,439 Views
12 Pages

Satellitome Analysis in the Southern Lapwing (Vanellus chilensis) Genome: Implications for SatDNA Evolution in Charadriiform Birds

  • Rafael Kretschmer,
  • Gustavo A. Toma,
  • Geize Aparecida Deon,
  • Natalia dos Santos,
  • Rodrigo Zeni dos Santos,
  • Ricardo Utsunomia,
  • Fabio Porto-Foresti,
  • Ricardo José Gunski,
  • Analía Del Valle Garnero and
  • Marcelo de Bello Cioffi
  • + 3 authors

19 February 2024

Vanellus (Charadriidae; Charadriiformes) comprises around 20 species commonly referred to as lapwings. In this study, by integrating cytogenetic and genomic approaches, we assessed the satellite DNA (satDNA) composition of one typical species, Vanell...

(This article belongs to the Section Animal Genetics and Genomics)
  • Article
  • Open Access
4 Citations
3,067 Views
15 Pages

Identification of Novel QTL for Mercury Accumulation in Maize Using an Enlarged SNP Panel

  • Jionghao Gao,
  • Jianxin Li,
  • Jihong Zhang,
  • Yan Sun,
  • Xiaolong Ju,
  • Wenlong Li,
  • Haiyang Duan,
  • Zhengjie Xue,
  • Li Sun and
  • Jihua Tang
  • + 3 authors

19 February 2024

Mercury (Hg) pollution not only poses a threat to the environment but also adversely affects the growth and development of plants, with potential repercussions for animals and humans through bioaccumulation in the food chain. Maize, a crucial source...

(This article belongs to the Special Issue Molecular Biology of Crop Abiotic Stress Resistance)
  • Article
  • Open Access
5 Citations
5,674 Views
14 Pages

Further Delineation of Clinical Phenotype of ZMYND11 Variants in Patients with Neurodevelopmental Dysmorphic Syndrome

  • Aleksandra Bodetko,
  • Joanna Chrzanowska,
  • Malgorzata Rydzanicz,
  • Agnieszka Borys-Iwanicka,
  • Pawel Karpinski,
  • Joanna Bladowska,
  • Rafal Ploski and
  • Robert Smigiel

19 February 2024

Intellectual disability with speech delay and behavioural abnormalities, as well as hypotonia, seizures, feeding difficulties and craniofacial dysmorphism, are the main symptoms associated with pathogenic variants of the ZMYND11 gene. The range of cl...

(This article belongs to the Section Human Genomics and Genetic Diseases)
  • Article
  • Open Access
1 Citations
3,351 Views
11 Pages

GiOPARK Project: The Genetic Study of Parkinson’s Disease in the Croatian Population

  • Valentino Rački,
  • Gaber Bergant,
  • Eliša Papić,
  • Anja Kovanda,
  • Mario Hero,
  • Gloria Rožmarić,
  • Nada Starčević Čizmarević,
  • Smiljana Ristić,
  • Saša Ostojić and
  • Vladimira Vuletić
  • + 3 authors

19 February 2024

Parkinson’s disease is a neurological disorder that affects motor function, autonomic functions, and cognitive abilities. It is likely that both genetic and environmental factors, along with age, contribute to the cause. However, there is no co...

(This article belongs to the Section Neurogenomics)
  • Article
  • Open Access
6 Citations
3,071 Views
16 Pages

18 February 2024

This study presents the complete mitochondrial genome (mitogenome) of Litostrophus scaber, which is the first mitogenome of the genus Litostrophus. The mitogenome is a circular molecule with a length of 15,081 bp. The proportion of adenine and thymin...

(This article belongs to the Section Animal Genetics and Genomics)
  • Article
  • Open Access
17 Citations
5,047 Views
12 Pages

Improving Genomic Predictions in Multi-Breed Cattle Populations: A Comparative Analysis of BayesR and GBLUP Models

  • Haoran Ma,
  • Hongwei Li,
  • Fei Ge,
  • Huqiong Zhao,
  • Bo Zhu,
  • Lupei Zhang,
  • Huijiang Gao,
  • Lingyang Xu,
  • Junya Li and
  • Zezhao Wang

18 February 2024

Numerous studies have shown that combining populations from similar or closely related genetic breeds improves the accuracy of genomic predictions (GP). Extensive experimentation with diverse Bayesian and genomic best linear unbiased prediction (GBLU...

(This article belongs to the Section Animal Genetics and Genomics)
  • Review
  • Open Access
2 Citations
3,463 Views
12 Pages

18 February 2024

An abundance of antisense promoters in the vicinity of the transcriptional start site of coding genes suggests that they play an important role in gene regulation. The divergent transcription of housekeeping genes by a common central promoter region...

(This article belongs to the Section Molecular Genetics and Genomics)
  • Review
  • Open Access
9 Citations
6,262 Views
18 Pages

Allelic Variations in Vernalization (Vrn) Genes in Triticum spp.

  • Sanaz Afshari-Behbahanizadeh,
  • Damiano Puglisi,
  • Salvatore Esposito and
  • Pasquale De Vita

17 February 2024

Rapid climate changes, with higher warming rates during winter and spring seasons, dramatically affect the vernalization requirements, one of the most critical processes for the induction of wheat reproductive growth, with severe consequences on flow...

(This article belongs to the Special Issue Genetics and Genomics of Polyploid Plants)
  • Article
  • Open Access
5 Citations
2,754 Views
10 Pages

The Identification of Goat KCNJ15 Gene Copy Number Variation and Its Association with Growth Traits

  • Jiahao Zhao,
  • Zhe Liu,
  • Xianwei Wang,
  • Xiaoling Xin,
  • Lei Du,
  • Huangqing Zhao,
  • Qingming An,
  • Xiaoting Ding,
  • Zijing Zhang and
  • Yongzhen Huang
  • + 2 authors

17 February 2024

(1) Background: Copy number variation (CNV) is a critical component of genome structural variation and has garnered significant attention. High-throughput screening of the KCNJ15 gene has revealed a correlation between the CNV region and the growth t...

(This article belongs to the Section Animal Genetics and Genomics)
  • Article
  • Open Access
3 Citations
3,306 Views
21 Pages

De Novo Genome Assembly of the Whitespot Parrotfish (Scarus forsteni): A Valuable Scaridae Genomic Resource

  • Yu Liang,
  • Lin Xian,
  • Jinmin Pan,
  • Kecheng Zhu,
  • Huayang Guo,
  • Baosuo Liu,
  • Nan Zhang,
  • Yan Ou-Yang,
  • Qin Zhang and
  • Dianchang Zhang

17 February 2024

Scarus forsteni, a whitespot parrotfish from the Scaridae family, is a herbivorous fish inhabiting coral reef ecosystems. The deterioration of coral reefs has highly affected the habitats of the parrotfish. The decline in genetic diversity of parrotf...

(This article belongs to the Section Animal Genetics and Genomics)
  • Article
  • Open Access
10 Citations
2,408 Views
13 Pages

Spatiotemporal Expression and Haplotypes Identification of KRT84 Gene and Their Association with Wool Traits in Gansu Alpine Fine-Wool Sheep

  • Xueqin Yu,
  • Shaobin Li,
  • Huitong Zhou,
  • Fangfang Zhao,
  • Jiang Hu,
  • Jiqing Wang,
  • Xiu Liu,
  • Mingna Li,
  • Zhidong Zhao and
  • Jon G. H. Hickford
  • + 2 authors

16 February 2024

Keratin (K) is a major protein component of hair and is involved in hair growth and development. In this study, we analysed the expression, localization, and polymorphism of the K84 gene (KRT84) in Gansu Alpine Fine-wool sheep using immunofluorescenc...

(This article belongs to the Section Animal Genetics and Genomics)
  • Article
  • Open Access
5 Citations
2,196 Views
11 Pages

15 February 2024

RNA polymerase I (Pol I) is responsible for synthesizing the three largest eukaryotic ribosomal RNAs (rRNAs), which form the backbone of the ribosome. Transcription by Pol I is required for cell growth and, therefore, is subject to complex and intric...

(This article belongs to the Section RNA)
  • Feature Paper
  • Article
  • Open Access
5 Citations
5,010 Views
27 Pages

Homozygous CNP Mutation and Neurodegeneration in Weimaraners: Myelin Abnormalities and Accumulation of Lipofuscin-like Inclusions

  • Stefan H. Keller,
  • Gary S. Johnson,
  • Garrett Bullock,
  • Tendai Mhlanga-Mutangadura,
  • Malte Schwartz,
  • Savannah G. Pattridge,
  • Juyuan Guo,
  • Gregg D. Kortz and
  • Martin L. Katz

15 February 2024

A progressive neurological disorder was observed in a male neutered Weimaraner. Clinical signs included fecal incontinence, lethargy, moderate paraparesis, proprioceptive pelvic limb ataxia, falling, cognitive decline, incoordination, decreased inter...

(This article belongs to the Section Human Genomics and Genetic Diseases)
  • Review
  • Open Access
11 Citations
5,062 Views
16 Pages

When Livestock Genomes Meet Third-Generation Sequencing Technology: From Opportunities to Applications

  • Xinyue Liu,
  • Junyuan Zheng,
  • Jialan Ding,
  • Jiaxin Wu,
  • Fuyuan Zuo and
  • Gongwei Zhang

15 February 2024

Third-generation sequencing technology has found widespread application in the genomic, transcriptomic, and epigenetic research of both human and livestock genetics. This technology offers significant advantages in the sequencing of complex genomic r...

(This article belongs to the Special Issue Genetic Regulation of Animal Reproduction)
  • Article
  • Open Access
2 Citations
2,676 Views
17 Pages

miR-665-Mediated Regulation of AHCYL2 and BVES Genes in Recurrent Implantation Failure

  • Sung Hwan Cho,
  • Young Myeong Kim,
  • Hui Jeong An,
  • Ji Hyang Kim and
  • Nam Keun Kim

15 February 2024

The primary goal of this investigation was to identify mRNA targets affected by dysregulated miRNAs in RIF. This was accomplished by comprehensively analyzing mRNA and miRNA expression profiles in two groups: female subjects with normal reproductive...

(This article belongs to the Special Issue Non-coding RNAs in Human Health and Disease)
  • Communication
  • Open Access
2 Citations
2,585 Views
11 Pages

Xenopus Sox11 Partner Proteins and Functional Domains in Neurogenesis

  • Kaela S. Singleton,
  • Pablo Silva-Rodriguez,
  • Doreen D. Cunningham and
  • Elena M. Silva

15 February 2024

Sox11, a member of the SoxC family of transcription factors, has distinct functions at different times in neural development. Studies in mouse, frog, chick, and zebrafish show that Sox11 promotes neural fate, neural differentiation, and neuron matura...

(This article belongs to the Section Molecular Genetics and Genomics)
  • Article
  • Open Access
2 Citations
2,868 Views
13 Pages

FGF23 Expression Is a Promising Immunohistochemical Diagnostic Marker for Undifferentiated Pleomorphic Sarcoma of Bone (UPSb)

  • Hafid O. Al-Hassi,
  • Naser M. Ali,
  • Hannah Cooke,
  • Shamini De Silva,
  • Anna T. Brini,
  • Pavithra Babu,
  • Vaiyapuri Sumathi,
  • Mark R. Morris and
  • Stefania Niada

14 February 2024

Background: Undifferentiated pleomorphic sarcoma of bone (UPSb) is a rare primary bone sarcoma that lacks a specific line of differentiation. Distinguishing between UPSb and other malignant bone sarcomas, including dedifferentiated chondrosarcoma and...

(This article belongs to the Section Molecular Genetics and Genomics)
  • Article
  • Open Access
16 Citations
5,506 Views
15 Pages

STAT4 Gene Variant rs7574865 Is Associated with Rheumatoid Arthritis Activity and Anti-CCP Levels in the Western but Not in the Southern Population of Mexico

  • Karla Mayela Bravo-Villagra,
  • José Francisco Muñoz-Valle,
  • Christian Johana Baños-Hernández,
  • Sergio Cerpa-Cruz,
  • José Eduardo Navarro-Zarza,
  • Isela Parra-Rojas,
  • José Alonso Aguilar-Velázquez,
  • Samuel García-Arellano and
  • Andres López-Quintero

14 February 2024

Rheumatoid Arthritis (RA) is a multifactorial autoimmune disease. Currently, several genes play an important role in the development of the disease. The objective was to evaluate the association of the STAT4 rs7574865 and rs897200 gene variants...

(This article belongs to the Special Issue Autoimmune Disease Genetics Volume II)
  • Article
  • Open Access
8 Citations
5,397 Views
18 Pages

BDNF, DRD4, and HTR2A Gene Allele Frequency Distribution and Association with Mental Illnesses in the European Part of Russia

  • Anna Morozova,
  • Valeriya Ushakova,
  • Olga Pavlova,
  • Sakeena Bairamova,
  • Nika Andryshenko,
  • Aleksandra Ochneva,
  • Olga Abramova,
  • Yana Zorkina,
  • Valery A. Spektor and
  • Konstantin Pavlov
  • + 13 authors

14 February 2024

The prevalence of mental disorders and how they are diagnosed represent some of the major problems in psychiatry. Modern genetic tools offer the potential to reduce the complications concerning diagnosis. However, the vast genetic diversity in the wo...

(This article belongs to the Section Human Genomics and Genetic Diseases)
  • Article
  • Open Access
17 Citations
4,080 Views
15 Pages

14 February 2024

Paeonia lactiflora (P. lactiflora), a perennial plant renowned for its medicinal roots, provides a unique case for studying the phylogenetic relationships of species based on organelle genomes, as well as the transference of DNA across organelle geno...

(This article belongs to the Special Issue Advances in Evolution of Plant Organelle Genome—2nd Edition)
  • Article
  • Open Access
3 Citations
3,553 Views
17 Pages

Frameshift Variant in AMPD2 in Cirneco dell’Etna Dogs with Retinopathy and Tremors

  • Leonardo Murgiano,
  • Jessica K. Niggel,
  • Leontine Benedicenti,
  • Matteo Cortellari,
  • Arianna Bionda,
  • Paola Crepaldi,
  • Luigi Liotta,
  • Geoffrey K. Aguirre,
  • William A. Beltran and
  • Gustavo D. Aguirre

13 February 2024

While the manifestations of many inherited retinal disorders are limited to loss of vision, others are part of a syndrome that affects multiple tissues, particularly the nervous system. Most syndromic retinal disorders are thought to be recessively i...

(This article belongs to the Topic Animal Models of Human Disease 2.0)
  • Article
  • Open Access
8 Citations
3,167 Views
23 Pages

Genome-Wide Analysis of the Lateral Organ Boundaries Domain (LBD) Gene Family in Sweet Potato (Ipomoea batatas)

  • Lei Shi,
  • Xiongjian Lin,
  • Binquan Tang,
  • Rong Zhao,
  • Yichi Wang,
  • Yingyi Lin,
  • Liangliang Wu,
  • Chao Zheng and
  • Hongbo Zhu

13 February 2024

The LBD family is a plant-specific transcription factor family that plays an important role in a variety of biological processes. However, the function of IbLBD genes in sweet potato remains unclear. In this study, we identified a total of 53 IbLBD g...

(This article belongs to the Section Bioinformatics)
  • Article
  • Open Access
1 Citations
6,322 Views
12 Pages

13 February 2024

The bacterial genome contains numerous repeated sequences that greatly affect its genomic plasticity. The Escherichia coli K-12 genome contains three copies of the TRIP1 repeat sequence (TRIP1a, TRIP1b, and TRIP1c). However, the diversity, distributi...

(This article belongs to the Special Issue Genomics of Microbial Diversity, Evolution and Function)
  • Article
  • Open Access
1 Citations
2,286 Views
11 Pages

13 February 2024

In a past study, the team used specific-locus amplified fragment sequencing (SLAF sequencing) to detect single-nucleotide polymorphisms (SNPs) contributing to the differences in lambing numbers in Xinjiang sheep. This study verified the correlation b...

(This article belongs to the Section Animal Genetics and Genomics)
  • Article
  • Open Access
5 Citations
3,187 Views
10 Pages

The rs11568820 Variant in the Promoter Region of Vitamin D Receptor Gene Is Associated with Clinical Remission in Rheumatoid Arthritis Patients Receiving Tumor Necrosis Factor Inhibitors

  • Andrea Latini,
  • Giada De Benedittis,
  • Paola Conigliaro,
  • Chiara Bonini,
  • Chiara Morgante,
  • Maria Iacovantuono,
  • Arianna D’Antonio,
  • Alberto Bergamini,
  • Giuseppe Novelli and
  • Paola Borgiani
  • + 2 authors

12 February 2024

The vitamin D receptor (VDR), binding to the active form of the vitamin, promotes the transcription of numerous genes involved in the proliferation of immune cells, cytokine production and lymphocyte activation. It is known that vitamin D deficiency...

(This article belongs to the Special Issue Autoimmune Disease Genetics Volume II)
  • Article
  • Open Access
5 Citations
2,957 Views
13 Pages

Genome-Wide Detection for Runs of Homozygosity in Baoshan Pigs Using Whole Genome Resequencing

  • Wenjun Li,
  • Xudong Wu,
  • Decai Xiang,
  • Wei Zhang,
  • Lingxiang Wu,
  • Xintong Meng,
  • Jinlong Huo,
  • Zongjun Yin,
  • Guowen Fu and
  • Guiying Zhao

12 February 2024

Baoshan pigs (BS) are a local breed in Yunnan Province that may face inbreeding owing to its limited population size. To accurately evaluate the inbreeding level of the BS pig population, we used whole-genome resequencing to identify runs of homozygo...

(This article belongs to the Section Animal Genetics and Genomics)
  • Article
  • Open Access
6 Citations
5,460 Views
13 Pages

Frequencies of BCR::ABL1 Transcripts in Patients with Chronic Myeloid Leukemia: A Meta-Analysis

  • Pablo Romero-Morelos,
  • Ana Lilia González-Yebra,
  • Daniela Muñoz-López,
  • Elia Lara-Lona and
  • Beatriz González-Yebra

12 February 2024

Chronic myeloid leukemia (CML) is associated with the Philadelphia chromosome and distinct BCR::ABL1 gene transcripts. We assessed the frequencies of these transcripts in Mexico, Latin America, and worldwide. We determined the prevalence of BCR::ABL1...

(This article belongs to the Special Issue Genomic Diagnosis of Human Cancers)
  • Article
  • Open Access
4 Citations
2,673 Views
11 Pages

11 February 2024

Apocynum venetum L. is an economically valuable plant with tolerance to drought and salinity. Its leaves are utilized in tea production and pharmaceuticals, while the stem bark serves as a high-quality fiber material. To gain insights into the gene e...

(This article belongs to the Section Technologies and Resources for Genetics)
  • Article
  • Open Access
9 Citations
3,557 Views
18 Pages

11 February 2024

Quercus is a valuable genus ecologically, economically, and culturally. They are keystone species in many ecosystems. Species delimitation and phylogenetic studies of this genus are difficult owing to frequent hybridization. With an increasing number...

(This article belongs to the Special Issue Plant Plastid Genome)
  • Article
  • Open Access
12 Citations
3,680 Views
15 Pages

Identification of Candidate Genes and Pathways Linked to the Temperament Trait in Sheep

  • Estefanía Romaniuk,
  • Brenda Vera,
  • Pablo Peraza,
  • Gabriel Ciappesoni,
  • Juan Pablo Damián and
  • Elize Van Lier

11 February 2024

Temperament can be defined as the emotional variability among animals of the same species in response to the same stimulus, grouping animals by their reactivity as nervous, intermediate, or calm. Our goal was to identify genomic regions with the temp...

(This article belongs to the Section Animal Genetics and Genomics)
  • Article
  • Open Access
5 Citations
3,666 Views
28 Pages

10 February 2024

Different species of toothed whales (Odontoceti) exhibit a variety of tooth forms and enamel types. Some odontocetes have highly prismatic enamel with Hunter-Schreger bands, whereas enamel is vestigial or entirely lacking in other species. Different...

(This article belongs to the Section Population and Evolutionary Genetics and Genomics)
  • Feature Paper
  • Article
  • Open Access
5 Citations
4,102 Views
15 Pages

Male Pedigree Toolbox: A Versatile Software for Y-STR Data Analyses

  • Arwin Ralf,
  • Bram van Wersch,
  • Diego Montiel González and
  • Manfred Kayser

10 February 2024

Y-chromosomal short tandem repeats (Y-STRs) are widely used in forensic, genealogical, and population genetics. With the recent increase in the number of rapidly mutating (RM) Y-STRs, an unprecedented level of male differentiation can be achieved, wi...

(This article belongs to the Section Bioinformatics)
  • Article
  • Open Access
3 Citations
2,689 Views
14 Pages

10 February 2024

The present study provides a detailed analysis of the chloroplast genome of Microula sikkimensis. The genome consisted of a total of 149,428 bp and four distinct regions, including a large single-copy region (81,329 bp), a small single-copy region (1...

(This article belongs to the Topic Plant Chloroplast Genome and Evolution)
  • Case Report
  • Open Access
2 Citations
5,369 Views
10 Pages

Relevance of Extending FGFR3 Gene Analysis in Osteochondrodysplasia to Non-Coding Sequences: A Case Report

  • Zangbéwendé Guy Ouedraogo,
  • Caroline Janel,
  • Alexandre Janin,
  • Gilles Millat,
  • Sarah Langlais,
  • Bénédicte Pontier,
  • Marie Biard,
  • Mathis Lepage,
  • Christine Francannet and
  • Isabelle Creveaux
  • + 1 author

10 February 2024

Skeletal dysplasia, also called osteochondrodysplasia, is a category of disorders affecting bone development and children’s growth. Up to 552 genes, including fibroblast growth factor receptor 3 (FGFR3), have been implicated by pathogenic varia...

(This article belongs to the Special Issue Molecular and Genetic Diagnosis of Rare Diseases)
  • Feature Paper
  • Article
  • Open Access
18 Citations
4,114 Views
11 Pages

Performance of a 74-Microhaplotype Assay in Kinship Analyses

  • Carmen Tomas,
  • Pedro Rodrigues,
  • Carina G. Jønck,
  • Zohal Barekzay,
  • Halimureti Simayijiang,
  • Vania Pereira and
  • Claus Børsting

10 February 2024

Microhaplotypes (MHs) consisting of multiple SNPs and indels on short stretches of DNA are new and interesting loci for forensic genetic investigations. In this study, we analysed 74 previously defined MHs in two of the populations that our laborator...

(This article belongs to the Special Issue Strategies and Techniques in DNA Forensic Investigations)
  • Article
  • Open Access
4 Citations
2,388 Views
13 Pages

9 February 2024

Nitrogen (N) application significantly increases tiller numbers and is accompanied by changes in endogenous hormone content. We treated seedlings of Festuca kirilowii—a perennial forage grass—with nitrogen, determined the endogenous hormo...

(This article belongs to the Section Plant Genetics and Genomics)
  • Feature Paper
  • Article
  • Open Access
3 Citations
2,805 Views
20 Pages

Local Genomic Instability of the SpTransformer Gene Family in the Purple Sea Urchin Inferred from BAC Insert Deletions

  • Megan A. Barela Hudgell,
  • Farhana Momtaz,
  • Abiha Jafri,
  • Max A. Alekseyev and
  • L. Courtney Smith

9 February 2024

The SpTransformer (SpTrf) gene family in the purple sea urchin, Strongylocentrotus purpuratus, encodes immune response proteins. The genes are clustered, surrounded by short tandem repeats, and some are present in genomic segmental duplications. The...

(This article belongs to the Section Population and Evolutionary Genetics and Genomics)
  • Article
  • Open Access
11 Citations
3,566 Views
15 Pages

9 February 2024

Utilizing salt-tolerant plants is a cost-effective strategy for agricultural production on salinized land. However, little is known about the mechanism of dandelion (Taraxacum mongolicum Hand.-Mazz.) in response to saline stress and caffeic acid bios...

(This article belongs to the Special Issue Genomics and Genetics of Medicinal Plants)
  • Review
  • Open Access
39 Citations
14,715 Views
31 Pages

Genetic Basis of Breast and Ovarian Cancer: Approaches and Lessons Learnt from Three Decades of Inherited Predisposition Testing

  • Valeria Barili,
  • Enrico Ambrosini,
  • Beatrice Bortesi,
  • Roberta Minari,
  • Erika De Sensi,
  • Ilenia Rita Cannizzaro,
  • Antonietta Taiani,
  • Maria Michiara,
  • Angelica Sikokis and
  • Benedetta Pellegrino
  • + 11 authors

8 February 2024

Germline variants occurring in BRCA1 and BRCA2 give rise to hereditary breast and ovarian cancer (HBOC) syndrome, predisposing to breast, ovarian, fallopian tube, and peritoneal cancers marked by elevated incidences of genomic aberrations that corres...

(This article belongs to the Section Genetic Diagnosis)
  • Brief Report
  • Open Access
2,086 Views
6 Pages

A Breast Cancer Candidate Locus at 6q Narrowed to 6q15-q21

  • Dorottya Csuka,
  • Edda S. Freysteinsdottir,
  • Gudrun Johannesdottir,
  • Bjarni A. Agnarsson,
  • Oskar Th. Johannsson,
  • Rosa B. Barkardottir and
  • Adalgeir Arason

8 February 2024

Although a number of high-risk breast cancer genes have been identified, including BRCA1 and BRCA2, the risk profile of many high-risk families cannot be explained using known breast cancer genes. Previously, we have shown strong indications of new b...

(This article belongs to the Section Molecular Genetics and Genomics)
  • Brief Report
  • Open Access
6 Citations
2,939 Views
12 Pages

8 February 2024

Exosomes have the ability to transport RNA/miRNAs and possess immune modulatory functions. Heat stress, a significant limiting factor in the poultry industry, can induce oxidative stress and suppress the immune responses of laying hens. In this study...

(This article belongs to the Topic MicroRNA: Mechanisms of Action, Physio-Pathological Implications, and Disease Biomarkers, 2nd Volume)
  • Article
  • Open Access
2,047 Views
14 Pages

Genetic Parameters for Limousine Interbeef Genetic Evaluation of Calving Traits

  • Zdeňka Veselá,
  • Michaela Brzáková,
  • Alexandra Novotná and
  • Luboš Vostrý

7 February 2024

The aim of this study was to estimate across-country genetic correlations for calving traits (birth weight, calving ease) in the Limousine breed. Correlations were estimated for eight populations (Czech Republic, joint population of Denmark, Finland,...

(This article belongs to the Special Issue Research on Genetics and Genomics of Cattle)
  • Article
  • Open Access
29 Citations
8,865 Views
12 Pages

Exploring the Impact of Primer–Template Mismatches on PCR Performance of DNA Polymerases Varying in Proofreading Activity

  • Ke Huang,
  • Jilei Zhang,
  • Jing Li,
  • Haixiang Qiu,
  • Lanjing Wei,
  • Yi Yang and
  • Chengming Wang

7 February 2024

Polymerase chain reaction (PCR) is a widely used technique in gene expression analysis, diagnostics, and various molecular biology applications. However, the accuracy and sensitivity of PCR can be compromised by primer–template mismatches, pote...

(This article belongs to the Section Animal Genetics and Genomics)
  • Article
  • Open Access
4 Citations
3,986 Views
14 Pages

Optimized Pepper Target SNP-Seq Applied in Population Structure and Genetic Diversity Analysis of 496 Pepper (Capsicum spp.) Lines

  • Yihao Wang,
  • Xiaofen Zhang,
  • Jingjing Yang,
  • Bin Chen,
  • Jian Zhang,
  • Wenyue Li,
  • Heshan Du and
  • Sansheng Geng

7 February 2024

Peppers are a major vegetable crop worldwide. With the completion of additional genome assemblies, a multitude of single-nucleotide polymorphisms (SNPs) can be utilized for population structure and genetic diversity analysis. In this study, we used t...

(This article belongs to the Section Plant Genetics and Genomics)
  • Article
  • Open Access
1 Citations
2,980 Views
12 Pages

Transcription Factor Regulation of Gene Expression Network by ZNF385D and HAND2 in Carotid Atherosclerosis

  • Ming Tan,
  • Lars Juel Andersen,
  • Niels Eske Bruun,
  • Matias Greve Lindholm,
  • Qihua Tan and
  • Martin Snoer

7 February 2024

Carotid intima-media thickness (CIMT) is a surrogate indicator for atherosclerosis and has been shown to predict cardiovascular risk in multiple large studies. Identification of molecular markers for carotid atheroma plaque formation can be critical...

(This article belongs to the Collection Feature Papers in Bioinformatics)
  • Article
  • Open Access
8 Citations
2,347 Views
14 Pages

Identification of Candidate Expansin Genes Associated with Seed Weight in Pomegranate (Punica granatum L.)

  • Chunyan Liu,
  • Haoyu Zhao,
  • Jiyu Li,
  • Zhen Cao,
  • Bo Deng,
  • Xin Liu and
  • Gaihua Qin

6 February 2024

Seed weight is an important target trait in pomegranate breeding and culture. Expansins act by loosening plant cell walls and cellulosic materials, permitting turgor-driven cell enlargement. However, the role of expansin genes (EXPs) in pomegranate s...

(This article belongs to the Section Plant Genetics and Genomics)
  • Article
  • Open Access
5 Citations
3,065 Views
10 Pages

Variants in KMT2A in Three Individuals with Previous Suspicion of 22q11.2 Deletion Syndrome

  • Henrique Garcia Silveira,
  • Carlos Eduardo Steiner,
  • Giovana Toccoli,
  • Luise Longo Angeloni,
  • Júlia Lôndero Heleno,
  • Samira Spineli-Silva,
  • Ana Mondadori dos Santos,
  • Társis Paiva Vieira,
  • Maria Isabel Melaragno and
  • Vera Lúcia Gil-da-Silva-Lopes

6 February 2024

The condition known as 22q11.2 deletion syndrome (MIM #188400) is a rare disease with a highly variable clinical presentation including more than 180 features; specific guidelines for screening individuals have been used to support clinical suspicion...

(This article belongs to the Special Issue Phenotype and Pathogenetic Mechanisms in 22q11.2 Deletion/DiGeorge Syndrome)
  • Article
  • Open Access
7 Citations
2,518 Views
12 Pages

6 February 2024

Quantitative reverse transcription PCR (qRT-PCR) can screen applicable reference genes of species, and reference genes can be used to reduce experimental errors. Sudan grass (Sorghum sudanense (Piper) Stapf) is a high-yield, abiotic-tolerant annual h...

(This article belongs to the Section Plant Genetics and Genomics)

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