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Genes, Volume 14, Issue 5

2023 May - 172 articles

Cover Story: This study assessed the usefulness of DNA quantification to predict the success of historical samples when analyzing SNPs, mtDNA, and STR targets. Thirty burials from six historical contexts were utilized, ranging in age from 80 to 800 years postmortem. Samples underwent library preparation and hybridization capture with two bait panels (FORCE and mitogenome), and STR typing (autosomal STR and Y-STR). All 30 samples generated small (~80 bp) autosomal DNA target qPCR results, despite the mean mappable fragments ranging from 55 to 125 bp. The qPCR results were positively correlated with DNA profiling success. The results also indicate that the human DNA quantity is a better predictor of success than the ratio of human to exogenous DNA. Accurate quantification with qPCR is feasible for historical bone samples, allowing for the screening of extracts to predict the success of DNA profiling. View this paper
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Articles (172)

  • Article
  • Open Access
8 Citations
2,902 Views
14 Pages

Association between IL-17F, IL-17RA Gene Polymorphisms and Response to Biological Drugs in Psoriasis and Beyond

  • Alexandra Dana Pușcaș,
  • Iulia Ioana Morar,
  • Ștefan Cristian Vesa,
  • Andreea Cătană,
  • Cristian Pușcaș,
  • Roxana Flavia Ilieș and
  • Remus-Ioan Orasan

22 May 2023

Psoriasis is a systemic inflammatory disease that associates with multiple comorbidities. It involves complex interactions between environmental factors and polygenic predisposition. The IL-17 family is one of the main actors in the pathogenesis of p...

  • Article
  • Open Access
2 Citations
2,893 Views
16 Pages

22 May 2023

A variety of prokaryotes produce a bacteriophage-like gene transfer agent (GTA), and the alphaproteobacterial Rhodobacter capsulatus RcGTA is a model GTA. Some environmental isolates of R. capsulatus lack the ability to acquire genes transferred by t...

  • Communication
  • Open Access
21 Citations
4,418 Views
10 Pages

22 May 2023

As an important genotyping platform, SNP chips are essential for implementing genomic selection. In this article, we introduced the development of a liquid SNP chip panel for dairy goats. This panel contains 54,188 SNPs based on genotyping by targete...

  • Article
  • Open Access
5 Citations
13,286 Views
12 Pages

Accuracy of Eye and Hair Color Prediction in Mexican Mestizos from Monterrey City Based on ForenSeqTM DNA Signature Prep

  • José Alonso Aguilar-Velázquez,
  • Blanca Jeannete Llamas-de-Dios,
  • Miranda Fabiola Córdova-Mercado,
  • Carolina Elena Coronado-Ávila,
  • Orlando Salas-Salas,
  • Andrés López-Quintero,
  • Benito Ramos-González and
  • Héctor Rangel-Villalobos

22 May 2023

Forensic genomic systems allow simultaneously analyzing identity informative (iiSNPs), ancestry informative (aiSNPs), and phenotype informative (piSNPs) genetic markers. Among these kits, the ForenSeq DNA Signature prep (Verogen) analyzes identity ST...

  • Article
  • Open Access
2,703 Views
15 Pages

22 May 2023

Recurrent aphthous stomatitis (RAS) is a benign ulcerative condition, defined by the recurrent formation of non-contagious mucosal ulcers. Surfactant protein D (SP-D) is secreted frequently at surfaces exposed directly to body fluids. This study aims...

  • Article
  • Open Access
3,233 Views
13 Pages

Whole Exome Sequencing Reveals Clustering of Variants of Known Vitiligo Genes in Multiplex Consanguineous Pakistani Families

  • Rafaqat Ishaq,
  • Muhammad Ilyas,
  • Umme Habiba,
  • Muhammad Noor ul Amin,
  • Sadia Saeed,
  • Ghazala Kaukab Raja,
  • Pakeeza Arzoo Shaiq and
  • Zubair M. Ahmed

22 May 2023

Vitiligo is an autoimmune complex pigmentation disease characterized by non-pigmented patches on the surface of the skin that affect approximately 0.5–2% population worldwide. The exact etiology is still unknown; however, vitiligo is hypothesiz...

  • Article
  • Open Access
3 Citations
2,879 Views
11 Pages

22 May 2023

Oil-tea (Camellia oleifera) is a woody oil crop whose nectar includes galactose derivatives that are toxic to honey bees. Interestingly, some mining bees of the genus Andrena can entirely live on the nectar (and pollen) of oil-tea and are able to met...

  • Article
  • Open Access
2 Citations
4,059 Views
14 Pages

New Insights in 9q21.13 Microdeletion Syndrome: Genotype–Phenotype Correlation of 28 Patients

  • Alessandro De Falco,
  • Achille Iolascon,
  • Flora Ascione and
  • Carmelo Piscopo

21 May 2023

The implementation of array comparative genomic hybridisation (array-CGH) allows us to describe new microdeletion/microduplication syndromes which were previously not identified. 9q21.13 microdeletion syndrome is a genetic condition due to the loss o...

  • Article
  • Open Access
5 Citations
3,427 Views
14 Pages

20 May 2023

Alternaria black spot disease on pecan is caused by the opportunistic pathogen Alternaria alternata and poses a serious threat to the local South African and global pecan industry. Several diagnostic molecular marker applications have been establishe...

  • Article
  • Open Access
10 Citations
4,563 Views
18 Pages

Biallelic Variants in Seven Different Genes Associated with Clinically Suspected Bardet–Biedl Syndrome

  • Hamed Nawaz,
  • Mujahid,
  • Sher Alam Khan,
  • Farhana Bibi,
  • Ahmed Waqas,
  • Abdul Bari,
  • Fardous,
  • Niamatullah Khan,
  • Nazif Muhammad and
  • Muhammad Umair
  • + 10 authors

19 May 2023

Bardet–Biedl syndrome (BBS) is a rare clinically and genetically heterogeneous autosomal recessive multi-systemic disorder with 22 known genes. The primary clinical and diagnostic features include six different hallmarks, such as rod–cone...

  • Article
  • Open Access
2,429 Views
18 Pages

Small RNA Profiling of Aster Yellows Phytoplasma-Infected Catharanthus roseus Plants Showing Different Symptoms

  • Nicoletta Contaldo,
  • Yuri Zambon,
  • Zsuszanna Nagyne Galbacs,
  • Fabio Miloro,
  • Zoltan Havelda,
  • Assunta Bertaccini and
  • Eva Varallyay

19 May 2023

Micropropagated Catharantus roseus plants infected with ‘Candidatus Phytoplasma asteris’ showed virescence symptoms, witches’ broom symptoms, or became asymptomatic after their planting in pots. Nine plants were grouped into three c...

  • Article
  • Open Access
2 Citations
2,456 Views
13 Pages

19 May 2023

Leaf color mutants (LCMs) are important resources for studying diverse metabolic processes such as chloroplast biogenesis and differentiation, pigments’ biosynthesis and accumulation, and photosynthesis. However, in Dendrobium officinale, LCMs...

  • Article
  • Open Access
2 Citations
2,994 Views
21 Pages

Differential Regulation of POC5 by ERα in Human Normal and Scoliotic Cells

  • Amani Hassan,
  • Edward T. Bagu,
  • Shunmoogum A. Patten,
  • Sirinart Molidperee,
  • Stefan Parent,
  • Soraya Barchi,
  • Isabelle Villemure,
  • André Tremblay and
  • Florina Moldovan

19 May 2023

Adolescent idiopathic scoliosis (AIS) is a complex three-dimensional spinal deformity. The incidence of AIS in females is 8.4 times higher than in males. Several hypotheses on the role of estrogen have been postulated for the progression of AIS. Rece...

  • Article
  • Open Access
10 Citations
3,227 Views
17 Pages

Comparative Analysis of Codon Usage Patterns in Nuclear and Chloroplast Genome of Dalbergia (Fabaceae)

  • Zu-Kai Wang,
  • Yi Liu,
  • Hao-Yue Zheng,
  • Min-Qiang Tang and
  • Shang-Qian Xie

19 May 2023

The Dalbergia plants are widely distributed across more than 130 tropical and subtropical countries and have significant economic and medicinal value. Codon usage bias (CUB) is a critical feature for studying gene function and evolution, which can pr...

  • Brief Report
  • Open Access
5 Citations
2,731 Views
7 Pages

18 May 2023

Examination of STR markers using the MPS technology is becoming more common in forensic genetics, but scientists still have insufficient experience in dealing with ambiguous results. However, it is always essential to resolve discordant data if we wa...

  • Article
  • Open Access
4 Citations
4,131 Views
16 Pages

18 May 2023

Amyotrophic lateral sclerosis (ALS) is a progressive neurodegenerative disease affecting the upper and lower motor neurons, causing patients to lose control over voluntary movement, and leading to gradual paralysis and death. There is no cure for ALS...

  • Article
  • Open Access
8 Citations
2,612 Views
16 Pages

Regulatory Effects of FGF9 on Dermal Papilla Cell Proliferation in Small-Tailed Han Sheep

  • Qi Jia,
  • Shuangshuang Zhang,
  • Dan Wang,
  • Jianqiang Liu,
  • Xinhui Luo,
  • Yu Liu,
  • Xin Li,
  • Fuliang Sun,
  • Guangjun Xia and
  • Lichun Zhang

18 May 2023

Fibroblast growth factor 9 (FGF9) is crucial for the growth and development of hair follicles (HFs); however, its role in sheep wool growth is unknown. Here, we clarified the role of FGF9 in HF growth in the small-tailed Han sheep by quantifying FGF9...

  • Article
  • Open Access
5 Citations
2,553 Views
15 Pages

Molecular Survey of Rodent-Borne Infectious Agents in the Ferlo Region, Senegal

  • Joa Braïthe Mangombi-Pambou,
  • Laurent Granjon,
  • Fabien Flirden,
  • Mamadou Kane,
  • Youssoupha Niang,
  • Bernard Davoust,
  • Florence Fenollar and
  • Oleg Mediannikov

18 May 2023

Zoonotic pathogens are responsible for most infectious diseases in humans, with rodents being important reservoir hosts for many of these microorganisms. Rodents, thus, pose a significant threat to public health. Previous studies in Senegal have show...

  • Brief Report
  • Open Access
3 Citations
3,041 Views
8 Pages

ITGAM rs1143679 Variant in Systemic Lupus Erythematosus Is Associated with Increased Serum Calcification Propensity

  • Matthieu Halfon,
  • Li Zhang,
  • Driss Ehirchiou,
  • Vishnuprabu Durairaj Pandian,
  • Suzan Dahdal,
  • Uyen Huynh-Do,
  • Andreas Pasch,
  • Camillo Ribi and
  • Nathalie Busso

18 May 2023

Objectives: CD11B/ITGAM (Integrin Subunit α M) mediates the adhesion of monocytes, macrophages, and granulocytes and promotes the phagocytosis of complement-coated particles. Variants of the ITGAM gene are candidates for genetic susceptibility...

  • Article
  • Open Access
10 Citations
3,467 Views
20 Pages

EDLM: Ensemble Deep Learning Model to Detect Mutation for the Early Detection of Cholangiocarcinoma

  • Asghar Ali Shah,
  • Fahad Alturise,
  • Tamim Alkhalifah,
  • Amna Faisal and
  • Yaser Daanial Khan

18 May 2023

The most common cause of mortality and disability globally right now is cholangiocarcinoma, one of the worst forms of cancer that may affect people. When cholangiocarcinoma develops, the DNA of the bile duct cells is altered. Cholangiocarcinoma claim...

  • Review
  • Open Access
23 Citations
3,979 Views
24 Pages

Genomic Dynamics and Functional Insights under Salt Stress in Gossypium hirsutum L.

  • Zunaira Anwar,
  • Aqsa Ijaz,
  • Allah Ditta,
  • Baohua Wang,
  • Fang Liu,
  • Sana Muhy-Ud-Din Khan,
  • Sajjad Haidar,
  • Hafiz Mumtaz Hassan and
  • Muhammad Kashif Riaz Khan

18 May 2023

The changing climate is intensifying salt stress globally. Salt stress is a menace to cotton crop quality and yield. The seedling, germination, and emergence phases are more prone to the effects of salt stress than other stages. Higher levels of salt...

  • Article
  • Open Access
10 Citations
3,140 Views
11 Pages

Polymorphisms Analysis of BMP15, GDF9 and BMPR1B in Tibetan Cashmere Goat (Capra hircus)

  • Tianzeng Song,
  • Yacheng Liu,
  • Renqing Cuomu,
  • Yao Tan,
  • Cuoji A. Wang,
  • Ji De,
  • Xiaohan Cao and
  • Xianyin Zeng

18 May 2023

The Tibetan cashmere goat is a prolific goat breed in China. In sheep breeds, natural mutations have demonstrated that the transforming growth factor beta (TGF-β) super family ligands, such as growth differentiation factor 9 (GDF9), bone morphog...

  • Article
  • Open Access
3 Citations
2,644 Views
12 Pages

Molecular Profiling of Inflammatory Mediators in Human Respiratory Syncytial Virus and Human Bocavirus Infection

  • Noorah A. Alkubaisi,
  • Ibrahim M. Aziz,
  • Asma N. Alsaleh,
  • Abdulkarim F. Alhetheel and
  • Fahad N. Almajhdi

17 May 2023

Infections due to human respiratory syncytial virus (HRSV) and human bocavirus (HBoV) can mediate the release of several pro-inflammatory cytokines such as IL-6, IL-8, and TNF-α, which are usually associated with disease severity in children. I...

  • Article
  • Open Access
2 Citations
3,388 Views
19 Pages

ACE-I/D Allele Modulates Improvements of Cardiorespiratory Function and Muscle Performance with Interval-Type Exercise

  • Benedikt Gasser,
  • David Niederseer,
  • Walter O. Frey,
  • Silvio Catuogno and
  • Martin Flück

17 May 2023

Background: The prominent insertion/deletion polymorphism in the gene for the major modulator of tissue perfusion, angiotensin-converting enzyme (ACE-I/D) is associated with variability in adjustments in cardiac and skeletal muscle performance with s...

  • Article
  • Open Access
4 Citations
2,231 Views
13 Pages

17 May 2023

The reference gene expression is not always stable under different experimental conditions, and screening of suitable reference genes is a prerequisite in quantitative real-time polymerase chain reaction (qRT-PCR). In this study, we investigated gene...

  • Article
  • Open Access
8 Citations
3,570 Views
15 Pages

17 May 2023

The magnitude of the childhood obesity epidemic and its effects on public health has accelerated the pursuit of practical preventative measures. Epigenetics is one subject that holds a lot of promise, despite being relatively new. The study of potent...

  • Article
  • Open Access
1 Citations
2,493 Views
12 Pages

Transcription of WNT Genes in Hematopoietic Niche’s Mesenchymal Stem Cells in Multiple Myeloma Patients with Different Responses to Treatment

  • Natella I. Enukashvily,
  • Liubov. A. Belik,
  • Natalia Yu. Semenova,
  • Ivan I. Kostroma,
  • Ekaterina V. Motyko,
  • Sergey V. Gritsaev,
  • Stanislav S. Bessmeltsev,
  • Sergey V. Sidorkevich and
  • Irina S. Martynkevich

17 May 2023

Mesenchymal stromal cells (MSCs) are involved in bone tissue remodeling due to their ability to differentiate into osteoblasts and to influence osteoclasts’ activity. Multiple myeloma (MM) is associated with bone resorption. During disease prog...

  • Article
  • Open Access
10 Citations
3,339 Views
17 Pages

Appressoria Formation in Phytopathogenic Fungi Suppressed by Antimicrobial Peptides and Hybrid Peptides from Black Soldier Flies

  • Qianlong Sun,
  • Xin Zhang,
  • Ying Ouyang,
  • Pingzhong Yu,
  • Yilong Man,
  • Sheng Guo,
  • Sizhen Liu,
  • Yue Chen,
  • Yunsheng Wang and
  • Xinqiu Tan

17 May 2023

Antimicrobial peptides (AMPs) from black solider flies (Hermetia illucens, BSF) exhibiting broad-spectrum antimicrobial activity are the most promising green substitutes for preventing the infection of phytopathogenic fungi; therefore, AMPs have been...

  • Review
  • Open Access
40 Citations
13,648 Views
23 Pages

The Role of Pharmacogenetics in Personalizing the Antidepressant and Anxiolytic Therapy

  • Milica Radosavljevic,
  • Dubravka Svob Strac,
  • Jasna Jancic and
  • Janko Samardzic

16 May 2023

Pharmacotherapy for neuropsychiatric disorders, such as anxiety and depression, has been characterized by significant inter-individual variability in drug response and the development of side effects. Pharmacogenetics, as a key part of personalized m...

  • Communication
  • Open Access
2,458 Views
7 Pages

Male Gonads Transplantation from Kadaknath Chicken to Chicken and Duck Surrogates

  • Adnan Naim,
  • Surya Kanta Mishra,
  • Anjan Sahoo and
  • Indra mani Nath

16 May 2023

Transplantation of the gonadal tissue of male and female avian species, such as chicken, onto suitable surrogates and production of live offspring has been successfully demonstrated as a strategy for the conservation and re-constitution of valuable c...

  • Article
  • Open Access
9 Citations
2,522 Views
22 Pages

Integration of Non-Coding RNA and mRNA Profiles Reveals the Mechanisms of Rumen Development Induced by Different Types of Diet in Calves

  • Jie Wang,
  • Huimei Fan,
  • Mianying Li,
  • Kaisen Zhao,
  • Siqi Xia,
  • Yang Chen,
  • Jiahao Shao,
  • Tao Tang,
  • Xue Bai and
  • Songjia Lai
  • + 5 authors

16 May 2023

Selecting suitable feed types and understanding the gastrointestinal digestive mechanism are helpful for the growth and health of calves in intensive dairy farming. However, the effects on rumen development of changing the molecular genetic basis and...

  • Article
  • Open Access
10 Citations
3,269 Views
13 Pages

Social, Genetics and Histopathological Factors Related to Titin (TTN) Gene Mutation and Survival in Women with Ovarian Serous Cystadenocarcinoma: Bioinformatics Analysis

  • Fabiana de Campos Gomes,
  • Eric Renato Lima Figueiredo,
  • Ediane Nunes De Araújo,
  • Edila Monteiro De Andrade,
  • Carlos Diego Lisbôa Carneiro,
  • Gabriel Mácola De Almeida,
  • Helana Augusta Andrade Leal Dias,
  • Lucélia Inoue Bispo Teixeira,
  • Manuela Trindade Almeida and
  • João Simão de Melo-Neto
  • + 4 authors

16 May 2023

Several factors may increase the risk of development of ovarian cancer. In this study, we investigated the relationship between social, genetic, and histopathologic factors in women with ovarian serous cystadenocarcinoma and titin (TTN) mutations, wh...

  • Article
  • Open Access
3 Citations
2,403 Views
12 Pages

Systematic Large Fragment Deletions in the Genome of Synechococcus elongatus and the Consequent Changes in Transcriptomic Profiles

  • Feifei Hou,
  • Zhufang Ke,
  • Yi Xu,
  • Yali Wang,
  • Geqian Zhu,
  • Hong Gao,
  • Shuiling Ji and
  • Xudong Xu

16 May 2023

Genome streamlining, as a natural process in the evolution of microbes, has become a common approach for generating ideal chassis cells for synthetic biology studies and industrial applications. However, systematic genome reduction remains a bottlene...

  • Article
  • Open Access
6 Citations
3,078 Views
13 Pages

Expression of Chitinase and shRNA Gene Exhibits Resistance to Fungi and Virus

  • Samia Parveen,
  • Anwar Khan,
  • Nusrat Jahan,
  • Khadija Aaliya,
  • Adnan Muzaffar,
  • Bushra Tabassum,
  • Syed Inayatullah,
  • Syed Moeezullah,
  • Muhammad Tariq and
  • Abrar Hussain
  • + 2 authors

15 May 2023

With the increasing global population, saving crops from diseases caused by different kinds of bacteria, fungi, viruses, and nematodes is essential. Potato is affected by various diseases, destroying many crops in the field and storage. In this study...

  • Article
  • Open Access
12 Citations
3,993 Views
18 Pages

Genome-Wide Association Mapping for Yield and Yield-Related Traits in Rice (Oryza Sativa L.) Using SNPs Markers

  • Muhammad Ashfaq,
  • Abdul Rasheed,
  • Renshan Zhu,
  • Muhammad Ali,
  • Muhammad Arshad Javed,
  • Alia Anwar,
  • Javaria Tabassum,
  • Shabnum Shaheen and
  • Xianting Wu

15 May 2023

Rice (Oryza sativa L.) is a staple food for more than 50% of the world’s population. Rice cultivar improvement is critical in order to feed the world’s growing population. Improving yield is one of the main aims of rice breeders. However,...

  • Article
  • Open Access
6 Citations
3,979 Views
11 Pages

The Complete Mitochondrial Genome and Phylogenetic Analyses of To Chicken in Vietnam

  • Lan Doan Pham,
  • Thi Thanh Nhan Giang,
  • Van Ba Nguyen,
  • Thi Phuong Mai Pham,
  • Thi Thu Thuy Tran,
  • Thi Quynh Chau Nguyen,
  • Khanh Van Nguyen and
  • Duy Ngoc Do

15 May 2023

Indigenous chicken breeds have both cultural significance and economic value since they possess unique genetic characteristics that enable them to adapt to the local environment and contribute to biodiversity, food security, and sustainable agricultu...

  • Article
  • Open Access
1 Citations
2,745 Views
13 Pages

Combined MITOchondrial-NUCLEAR (MITO-NUCLEAR) Analysis for Mitochondrial Diseases Diagnosis: Validation and Implementation of a One-Step NGS Method

  • Ferdinando Barretta,
  • Fabiana Uomo,
  • Filomena Caldora,
  • Rossella Mocerino,
  • Daniela Adamo,
  • Francesco Testa,
  • Francesca Simonelli,
  • Olga Scudiero,
  • Nadia Tinto and
  • Cristina Mazzaccara
  • + 1 author

15 May 2023

Background: Next-generation sequencing (NGS) technology is revolutionizing diagnostic screening for mitochondrial diseases (MDs). Moreover, an investigation by NGS still requires analyzing the mitochondrial genome and nuclear genes separately, with l...

  • Article
  • Open Access
2 Citations
2,510 Views
11 Pages

phox2ba: The Potential Genetic Link behind the Overlap in the Symptomatology between CHARGE and Central Congenital Hypoventilation Syndromes

  • Jessica E. MacLean,
  • Jaime N. Wertman,
  • Sergey V. Prykhozhij,
  • Emily Chedrawe,
  • Stewart Langley,
  • Shelby L. Steele,
  • Kevin Ban,
  • Kim Blake and
  • Jason N. Berman

15 May 2023

CHARGE syndrome typically results from mutations in the gene encoding chromodomain helicase DNA-binding protein 7 (CHD7). CHD7 is involved in regulating neural crest development, which gives rise to tissues of the skull/face and the autonomic nervous...

  • Review
  • Open Access
14 Citations
3,897 Views
20 Pages

Genetic Predictors of Antipsychotic Efflux Impairment via Blood-Brain Barrier: Role of Transport Proteins

  • Regina F. Nasyrova,
  • Natalia A. Shnayder,
  • Sofia M. Osipova,
  • Aiperi K. Khasanova,
  • Ilya S. Efremov,
  • Mustafa Al-Zamil,
  • Marina M. Petrova,
  • Ekaterina A. Narodova,
  • Natalia P. Garganeeva and
  • German A. Shipulin

15 May 2023

Antipsychotic (AP)—induced adverse drug reactions (ADRs) are a current problem of biological and clinical psychiatry. Despite the development of new generations of APs, the problem of AP-induced ADRs has not been solved and continues to be acti...

  • Brief Report
  • Open Access
3 Citations
2,528 Views
10 Pages

The Genome of a Pigeonpea Compatible Rhizobial Strain ‘10ap3’ Appears to Lack Common Nodulation Genes

  • Francina L. Bopape,
  • Ahmed Idris Hassen,
  • Rogerio M. Chiulele,
  • Addmore Shonhai and
  • Eastonce T. Gwata

14 May 2023

The symbiotic fixation of atmospheric nitrogen (N) in root nodules of tropical legumes such as pigeonpea (Cajanus cajan) is a complex process, which is regulated by multiple genetic factors at the host plant genotype microsymbiont interface. The proc...

  • Article
  • Open Access
3 Citations
2,367 Views
21 Pages

14 May 2023

The differences in cpDNA SNPs and InDels of 13 samples from single trees of different species or populations of oil-tea camellia in South China were examined in this study, and phylogenetic trees were reconstructed based on CDSs and non-CDSs of cpDNA...

  • Article
  • Open Access
15 Citations
3,162 Views
20 Pages

An Improved Machine Learning-Based Approach to Assess the Microbial Diversity in Major North Indian River Ecosystems

  • Nalinikanta Choudhury,
  • Tanmaya Kumar Sahu,
  • Atmakuri Ramakrishna Rao,
  • Ajaya Kumar Rout and
  • Bijay Kumar Behera

14 May 2023

The rapidly evolving high-throughput sequencing (HTS) technologies generate voluminous genomic and metagenomic sequences, which can help classify the microbial communities with high accuracy in many ecosystems. Conventionally, the rule-based binning...

  • Article
  • Open Access
6 Citations
2,805 Views
14 Pages

14 May 2023

Animal genotyping by means of genome-wide association studies is important for connecting phenotypes of interest with their underlying genetics in livestock. However, the use of whole genome sequencing to investigate chest circumference (CC) in donke...

  • Case Report
  • Open Access
5 Citations
5,577 Views
10 Pages

Netherton Syndrome Caused by Heterozygous Frameshift Mutation Combined with Homozygous c.1258A>G Polymorphism in SPINK5 Gene

  • Chiara Moltrasio,
  • Maurizio Romagnuolo,
  • Davide Riva,
  • Davide Colavito,
  • Silvia Mariel Ferrucci,
  • Angelo Valerio Marzano,
  • Gianluca Tadini and
  • Michela Brena

14 May 2023

Netherton syndrome (NS) is a rare autosomal recessive disorder caused by SPINK5 mutations, resulting in a deficiency in its processed protein LEKTI. It is clinically characterized by the triad of congenital ichthyosis, atopic diathesis, and hair shaf...

  • Case Report
  • Open Access
4 Citations
3,535 Views
7 Pages

Detailed Courses and Pathological Findings of Colonic Perforation without Diverticula in Sisters with Musculocontractural Ehlers–Danlos Syndrome Caused by Pathogenic Variant in CHST14 (mcEDS-CHST14)

  • Tomoko Kobayashi,
  • Fumiyoshi Fujishima,
  • Kazuaki Tokodai,
  • Chiaki Sato,
  • Takashi Kamei,
  • Noriko Miyake,
  • Naomichi Matsumoto and
  • Tomoki Kosho

14 May 2023

Musculocontractural Ehlers–Danlos syndrome (mcEDS) is a heritable connective tissue disorder characterized by multiple congenital malformations and progressive connective-tissue-fragility-related manifestations in the cutaneous, skeletal, cardi...

  • Article
  • Open Access
7 Citations
3,225 Views
13 Pages

Hereditary Gastric Cancer: Single-Gene or Multigene Panel Testing? A Mono-Institutional Experience

  • Mariarosaria Calvello,
  • Monica Marabelli,
  • Sara Gandini,
  • Elena Marino,
  • Loris Bernard,
  • Matteo Dal Molin,
  • Giulia Di Cola,
  • Cristina Zanzottera,
  • Giovanni Corso and
  • Bernardo Bonanni
  • + 7 authors

13 May 2023

Gastric cancer (GC) has long been a ‘Cinderella’ among hereditary cancers. Until recently, single-gene testing (SGT) was the only approach to identify high-risk individuals. With the spread of multigene panel testing (MGPT), a debate aros...

  • Review
  • Open Access
19 Citations
4,635 Views
12 Pages

13 May 2023

Abscisic acid (ABA) is a plant hormone that regulates numerous plant processes, including plant growth, development, and stress physiology. ABA plays an important role in enhancing plant stress tolerance. This involves the ABA-mediated control of gen...

  • Review
  • Open Access
12 Citations
5,053 Views
16 Pages

G-Quadruplexes in Nuclear Biomolecular Condensates

  • Iuliia Pavlova,
  • Mikhail Iudin,
  • Anastasiya Surdina,
  • Vjacheslav Severov and
  • Anna Varizhuk

13 May 2023

G-quadruplexes (G4s) have long been implicated in the regulation of chromatin packaging and gene expression. These processes require or are accelerated by the separation of related proteins into liquid condensates on DNA/RNA matrices. While cytoplasm...

  • Review
  • Open Access
50 Citations
9,796 Views
31 Pages

Crosstalk between miRNAs and DNA Methylation in Cancer

  • Michela Saviana,
  • Patricia Le,
  • Lavender Micalo,
  • Daniel Del Valle-Morales,
  • Giulia Romano,
  • Mario Acunzo,
  • Howard Li and
  • Patrick Nana-Sinkam

12 May 2023

miRNAs are some of the most well-characterized regulators of gene expression. Integral to several physiological processes, their aberrant expression often drives the pathogenesis of both benign and malignant diseases. Similarly, DNA methylation repre...

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Genes - ISSN 2073-4425