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Genes, Volume 15, Issue 3

2024 March - 131 articles

Cover Story: Infantile epileptic spasms syndrome (IESS) is a devastating developmental epileptic encephalopathy (DEE) consisting of epileptic spasms, developmental regression/stagnation, and hypsarrhythmia on EEG. A myriad of aetiologies are associated with IESS; approximately 40% of cases are genetic. Over 28 copy number variants and 70 single-gene pathogenic variants related to IESS have been discovered. Understanding the genetic mechanisms of IESS may provide the opportunity to discern IESS pathophysiology better and improve treatments. This review presents an overview of our current understanding of IESS genetics, emphasizing animal models of IESS pathogenesis, the spectrum of genetic aetiologies of IESS, and available genetic testing methods and their diagnostic yields. Future opportunities for precision medicine and epilepsy genetics in IESS treatment are explored. View this paper
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Articles (131)

  • Article
  • Open Access
4 Citations
2,283 Views
10 Pages

Fitting of Growth Curves and Estimation of Genetic Relationship between Growth Parameters of Qianhua Mutton Merino

  • Jiarong Li,
  • Xuesong Shan,
  • Yang Chen,
  • Chongshun Xu,
  • Lin Tang and
  • Huaizhi Jiang

21 March 2024

Qianhua Mutton Merino is a dual-purpose (meat and wool) breed of sheep that has been newly developed in China. In this study, we assessed the growth and development of the Qianhua Mutton Merino sheep breed under house feeding conditions by measuring...

  • Article
  • Open Access
6 Citations
2,610 Views
17 Pages

Cyto-Histological Profile of MicroRNAs as Diagnostic Biomarkers in Differentiated Thyroid Carcinomas

  • Maria de Lurdes Matos,
  • Mafalda Pinto,
  • Marta Alves,
  • Sule Canberk,
  • Ana Gonçalves,
  • Maria João Bugalho,
  • Ana Luísa Papoila and
  • Paula Soares

21 March 2024

Introduction: The repertoire of microRNAs (miRNAs) in thyroid carcinomas starts to be elucidated. Among differentiated thyroid carcinomas (DTCs), papillary thyroid carcinoma (PTC) is the most frequent. The assessment of miRNAs expression may contribu...

  • Article
  • Open Access
2 Citations
2,168 Views
13 Pages

Wounding-Related Signaling Is Integrated within the Auxin-Response Framework to Induce Adventitious Rooting in Chestnut

  • Ricardo Castro-Camba,
  • Jesús Mª Vielba,
  • Saleta Rico,
  • Purificación Covelo,
  • Mª José Cernadas,
  • Nieves Vidal and
  • Conchi Sánchez

21 March 2024

Wounding and exogenous auxin are needed to induce adventitious roots in chestnut microshoots. However, the specific inductive role of wounding has not been characterized in this species. In the present work, two main goals were established: First, we...

  • Article
  • Open Access
3 Citations
2,224 Views
16 Pages

In Vitro Low-Bortezomib Doses Induce Apoptosis and Independently Decrease the Activities of Glutathione S-Transferase and Glutathione Peroxidase in Multiple Myeloma, Taking into Account the GSTT1 and GSTM1 Gene Variants

  • Szymon Zmorzynski,
  • Sylwia Popek-Marciniec,
  • Beata Biernacka,
  • Aneta Szudy-Szczyrek,
  • Sylwia Chocholska,
  • Wojciech Styk,
  • Joanna Czerwik-Marcinkowska and
  • Grazyna Swiderska-Kolacz

21 March 2024

Background: Multiple myeloma (MM) is a malignancy derived from plasma cells. Bortezomib affects the concentration of reduced glutathione (GSH) and the activity of glutathione enzymes. The aim of our study was to analyze deletion (null/present) varian...

  • Article
  • Open Access
9 Citations
8,356 Views
14 Pages

ACTN3 XX Genotype Negatively Affects Running Performance and Increases Muscle Injury Incidence in LaLiga Football Players

  • Juan Del Coso,
  • Gil Rodas,
  • Aitor Soler-Aguinaga,
  • Roberto López-Del Campo,
  • Ricardo Resta,
  • Joaquín González-Rodenas,
  • Jordi Ferrandis and
  • Víctor Moreno-Pérez

21 March 2024

The aim of this study was to investigate the association of the ACTN3 rs1815739 polymorphism with match running performance and injury incidence in top-level professional football players. A total of 315 top-level professional football players from t...

  • Brief Report
  • Open Access
2 Citations
3,304 Views
11 Pages

Olfactory Receptor OR2K2 Expression in Human Choroid Plexus as a Potential Marker in Early Sporadic Alzheimer’s Disease

  • Victoria Cunha Alves,
  • Joana Figueiro-Silva,
  • Ramon Trullas,
  • Isidre Ferrer and
  • Eva Carro

21 March 2024

Epithelial cells comprising the choroid plexus (CP) form a crucial barrier between the blood and the cerebrospinal fluid, thereby assuming a central position in brain homeostasis and signaling. Mounting evidence suggests that the impairment of CP fun...

  • Article
  • Open Access
2 Citations
2,921 Views
10 Pages

The Health History of First-Degree Relatives’ Dyslipidemia Can Affect Preferences and Intentions following the Return of Genomic Results for Monogenic Familial Hypercholesterolemia

  • Tomoharu Tokutomi,
  • Akiko Yoshida,
  • Akimune Fukushima,
  • Kayono Yamamoto,
  • Yasushi Ishigaki,
  • Hiroshi Kawame,
  • Nobuo Fuse,
  • Fuji Nagami,
  • Yoichi Suzuki and
  • Makoto Sasaki
  • + 7 authors

21 March 2024

Genetic testing is key in modern healthcare, particularly for monogenic disorders such as familial hypercholesterolemia. This Tohoku Medical Megabank Project study explored the impact of first-degree relatives’ dyslipidemia history on individua...

  • Article
  • Open Access
6 Citations
2,492 Views
17 Pages

Mining Heat-Resistant Key Genes of Peony Based on Weighted Gene Co-Expression Network Analysis

  • Xingyu Yang,
  • Yu Huang,
  • Yiping Yao,
  • Wenxuan Bu,
  • Minhuan Zhang,
  • Tangchun Zheng,
  • Xiaoning Luo,
  • Zheng Wang,
  • Weiqun Lei and
  • Liping Qin
  • + 2 authors

21 March 2024

The RNA-Seq and gene expression data of mature leaves under high temperature stress of Paeonia suffruticosa ‘Hu Hong’ were used to explore the key genes of heat tolerance of peony. The weighted gene co-expression network analysis (WGCNA)...

  • Article
  • Open Access
10 Citations
3,819 Views
12 Pages

Genome-Wide Association Analysis of Semen Characteristics in Piétrain Boars

  • Henry Reyer,
  • Ibrahim Abou-Soliman,
  • Martin Schulze,
  • Hubert Henne,
  • Norbert Reinsch,
  • Jennifer Schoen and
  • Klaus Wimmers

20 March 2024

Since artificial insemination is common practice in pig breeding, the quality and persistence of the semen are decisive for the usability of individual boars. In the current study, genome-wide association analyses were performed to investigate the ge...

  • Case Report
  • Open Access
1 Citations
2,515 Views
9 Pages

Novel MYH7 Variant in the Neonate of a Mother with Gestational Diabetes Mellitus Showing Left Ventricular Hypertrophy and Noncompaction

  • Sayaka W Ozawa,
  • Satomi Inomata,
  • Yukiko Hata,
  • Shinya Takarada,
  • Mako Okabe,
  • Hideyuki Nakaoka,
  • Keijiro Ibuki,
  • Naoki Nishida,
  • Fukiko Ichida and
  • Keiichi Hirono

20 March 2024

Background: Left ventricular hypertrophy (LVH) is a well-recognized cardiac dysfunction in infants of mothers with gestational diabetes mellitus (GDM). Left ventricular noncompaction (LVNC) is a cardiomyopathy that is morphologically characterized by...

  • Article
  • Open Access
2 Citations
2,511 Views
16 Pages

20 March 2024

Corylopsis Siebold & Zucc. (Hamamelidaceae) is widely used as a horticultural plant and comprises approximately 25 species in East Asia. Molecular research is essential to distinguish Corylopsis species, which are morphologically similar. Molecul...

  • Review
  • Open Access
6 Citations
7,449 Views
22 Pages

20 March 2024

Beta adrenergic receptor antagonists, known as beta blockers, are one of the most prescribed medications in both pediatric and adult cardiology. Unfortunately, most of these agents utilized in the pediatric clinical setting are prescribed off-label....

  • Article
  • Open Access
2,112 Views
15 Pages

Fingerprint Finder: Identifying Genomic Fingerprint Sites in Cotton Cohorts for Genetic Analysis and Breeding Advancement

  • Shang Liu,
  • Hailiang Cheng,
  • Youping Zhang,
  • Man He,
  • Dongyun Zuo,
  • Qiaolian Wang,
  • Limin Lv,
  • Zhongxv Lin and
  • Guoli Song

19 March 2024

Genomic data in Gossypium provide numerous data resources for the cotton genomics community. However, to fill the gap between genomic analysis and breeding field work, detecting the featured genomic items of a subset cohort is essential for geneticis...

  • Article
  • Open Access
8 Citations
5,701 Views
12 Pages

Genome and Epigenome Disorders and Male Infertility: Feedback from 15 Years of Clinical and Research Experience

  • Debbie Montjean,
  • Marion Beaumont,
  • Abdelhafid Natiq,
  • Noureddine Louanjli,
  • Andre Hazout,
  • Pierre Miron,
  • Thomas Liehr,
  • Rosalie Cabry,
  • Ilham Ratbi and
  • Moncef Benkhalifa

19 March 2024

Infertility affects around 20% of couples of reproductive age; however, in some societies, as many as one-third of couples are unable to conceive. Different factors contribute to the decline of male fertility, such us environmental and professional e...

  • Article
  • Open Access
6 Citations
4,486 Views
17 Pages

Transferability of Human and Environmental Microbiome on Clothes as a Tool for Forensic Investigations

  • Noemi Procopio,
  • Giulia Sguazzi,
  • Emma V. Eriksson,
  • Nengi Ogbanga,
  • Frazer C. McKell,
  • Eleanor P. Newton,
  • Paola A. Magni,
  • Andrea Bonicelli and
  • Sarah Gino

19 March 2024

Considering the growing importance of microbiome analyses in forensics for identifying individuals, this study explores the transfer of the skin microbiome onto clothing, its persistence on fabrics over time, and its transferability from the environm...

  • Article
  • Open Access
8 Citations
3,136 Views
13 Pages

Expression, Polymorphism, and Potential Functional Sites of the BMPR1A Gene in the Sheep Horn

  • Guoqing Zhang,
  • Mingxing Chu,
  • Hao Yang,
  • Hao Li,
  • Jianxin Shi,
  • Pingjie Feng,
  • Shoufeng Wang and
  • Zhangyuan Pan

19 March 2024

Sheep horns are composed of bone and sheaths, and the BMPR1A gene is required for cartilage and osteogenic differentiation. Therefore, the BMPR1A gene may have a function related to the sheep horn, but its relationship with the sheep horn remains unc...

  • Review
  • Open Access
29 Citations
11,034 Views
21 Pages

19 March 2024

Transfer RNAs (tRNAs) are heavily decorated with post-transcriptional chemical modifications. Approximately 100 different modifications have been identified in tRNAs, and each tRNA typically contains 5–15 modifications that are incorporated at...

  • Brief Report
  • Open Access
2,993 Views
12 Pages

Long-Term Tissue Preservation at Ambient Temperature for Post-Mass Fatality Incident DNA-Based Victim Identification

  • Xavier Liang Shun Chan,
  • Shumei Michelle Lai,
  • Danial Asyraaf bin Hamdan,
  • Yee Bin Ng,
  • Onn Siong Yim and
  • Christopher Kiu Choong Syn

19 March 2024

In a mass fatality incident (MFI), effective preservation of tissue samples is the cornerstone for downstream DNA-based identification of victims. This is commonly achieved through freezing of tissue samples excised from bodies/fragmented remains whi...

  • Review
  • Open Access
7 Citations
2,910 Views
15 Pages

18 March 2024

As more and more of the available genomic data have been published, several databases have been developed for deciphering early mammalian embryogenesis; however, less research has been conducted on the regulation of the expression of natural immunity...

  • Review
  • Open Access
10 Citations
4,217 Views
15 Pages

Karyotype Diversification and Chromosome Rearrangements in Squamate Reptiles

  • Marcello Mezzasalma,
  • Rachele Macirella,
  • Gaetano Odierna and
  • Elvira Brunelli

18 March 2024

Karyotype diversification represents an important, yet poorly understood, driver of evolution. Squamate reptiles are characterized by a high taxonomic diversity which is reflected at the karyotype level in terms of general structure, chromosome numbe...

  • Technical Note
  • Open Access
2,670 Views
11 Pages

Enhancing Variant Prioritization in VarFish through On-Premise Computational Facial Analysis

  • Meghna Ahuja Bhasin,
  • Alexej Knaus,
  • Pietro Incardona,
  • Alexander Schmid,
  • Manuel Holtgrewe,
  • Miriam Elbracht,
  • Peter M. Krawitz and
  • Tzung-Chien Hsieh

17 March 2024

Genomic variant prioritization is crucial for identifying disease-associated genetic variations. Integrating facial and clinical feature analyses into this process enhances performance. This study demonstrates the integration of facial analysis (Gest...

  • Article
  • Open Access
7 Citations
4,260 Views
15 Pages

PDE4 Gene Family Variants Are Associated with Response to Apremilast Treatment in Psoriasis

  • Kalliopi Liadaki,
  • Efterpi Zafiriou,
  • Themistoklis Giannoulis,
  • Sofia Alexouda,
  • Kleoniki Chaidaki,
  • Polyxeni Gidarokosta,
  • Angeliki-Viktoria Roussaki-Schulze,
  • Sotirios G. Tsiogkas,
  • Athina Daponte and
  • Theologia Sarafidou
  • + 3 authors

17 March 2024

Moderate-to-severe psoriasis (Ps) treatment includes systemic drugs and biological agents. Apremilast, a small molecule primarily metabolized by cytochrome CYP3A4, modulates the immune system by specifically inhibiting phosphodiesterase type 4 (PDE4)...

  • Article
  • Open Access
3 Citations
3,342 Views
14 Pages

Selection Signatures Reveal Candidate Genes for the Cornish Rex Breed-Specific Phenotype

  • Minja Zorc,
  • Tajda Horvat,
  • Anja Tanšek,
  • Tamara Ferme and
  • Peter Dovč

16 March 2024

Many coat color, behavioral and morphological traits are specific and fixed across cat breeds, with several variants influencing these traits being common among different breeds. In the domestic cat, rexoid mutations have been documented in several b...

  • Article
  • Open Access
9 Citations
5,423 Views
18 Pages

Dynamics of Mitochondrial DNA Copy Number and Membrane Potential in Mouse Pre-Implantation Embryos: Responses to Diverse Types of Oxidative Stress

  • Yasmyn E. Winstanley,
  • Jun Liu,
  • Deepak Adhikari,
  • Macarena B. Gonzalez,
  • Darryl L. Russell,
  • John Carroll and
  • Rebecca L. Robker

16 March 2024

Mitochondria undergo a myriad of changes during pre-implantation embryo development, including shifts in activity levels and mitochondrial DNA (mtDNA) replication. However, how these distinct aspects of mitochondrial function are linked and their res...

  • Article
  • Open Access
5 Citations
2,396 Views
19 Pages

Overexpression of NtGPX8a Improved Cadmium Accumulation and Tolerance in Tobacco (Nicotiana tabacum L.)

  • Xiang Peng,
  • Tengfei Ma,
  • Kejin Song,
  • Xue Ji,
  • Lien Xiang,
  • Nan Chen,
  • Ronglei Zu,
  • Wenyi Xu,
  • Shunqin Zhu and
  • Wanhong Liu

15 March 2024

Cadmium (Cd)-induced oxidative stress detrimentally affects hyperaccumulator growth, thereby diminishing the efficacy of phytoremediation technology aimed at Cd pollution abatement. In the domain of plant antioxidant mechanisms, the role of glutathio...

  • Article
  • Open Access
3 Citations
2,956 Views
13 Pages

Characterization and Functional Analysis of Fads Reveals Δ5 Desaturation Activity during Long-Chain Polyunsaturated Fatty Acid Biosynthesis in Dwarf Surf Clam Mulinia lateralis

  • Tianhao Teng,
  • Zhenghua Zheng,
  • Wenqian Jiao,
  • Na Liu,
  • Ao Wang,
  • Mengjiao Liu,
  • Le Xie,
  • Zujing Yang,
  • Jingjie Hu and
  • Zhenmin Bao

15 March 2024

Fatty acid desaturases (Fads), as key enzymes in the biosynthesis of long-chain polyunsaturated fatty acids (LC-PUFAs), catalyze the desaturation between defined carbons of fatty acyl chains and control the degree of unsaturation of fatty acids. In t...

  • Review
  • Open Access
13 Citations
9,023 Views
18 Pages

Advancements in Viral Gene Therapy for Gaucher Disease

  • Akhil Kulkarni,
  • Tiffany Chen,
  • Ellen Sidransky and
  • Tae-Un Han

15 March 2024

Gaucher disease, an autosomal recessively inherited lysosomal storage disorder, results from biallelic mutations in the GBA1 gene resulting in deficient activity of the enzyme glucocerebrosidase. In Gaucher disease, the reduced levels and activity of...

  • Brief Report
  • Open Access
3 Citations
3,643 Views
11 Pages

The Risk Genes for Neuropsychiatric Disorders negr1 and opcml Are Expressed throughout Zebrafish Brain Development

  • Judith Habicher,
  • Ilaria Sanvido,
  • Anja Bühler,
  • Samuele Sartori,
  • Giovanni Piccoli and
  • Matthias Carl

14 March 2024

The immunoglobulin LAMP/OBCAM/NTM (IgLON) family of cell adhesion molecules comprises five members known for their involvement in establishing neural circuit connectivity, fine-tuning, and maintenance. Mutations in IgLON genes result in alterations i...

  • Article
  • Open Access
6 Citations
3,007 Views
14 Pages

14 March 2024

Cowpea (Vigna unguiculata L. Walp) is an important grain legume crop of the subtropics, particularly in West Africa, where it contributes to the livelihoods of small-scale farmers. Despite being a drought-resilient crop, cowpea production is hampered...

  • Article
  • Open Access
1 Citations
4,796 Views
13 Pages

Genomic Characterization of SARS-CoV-2 Variants from Clinical Isolates during the COVID-19 Epidemic in Mauritania

  • Jemila Deida,
  • Nasserdine Papa Mze,
  • Mamadou Beye,
  • Sidi Mohamed Ahmed,
  • Ahmed El Bara,
  • Mohamed Abdallahi Bollahi,
  • Leonardo Basco,
  • Ali Ould Mohamed Salem Boukhary and
  • Pierre-Edouard Fournier

14 March 2024

The rapid genetic evolution of the severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) during the coronavirus disease 2019 (COVID-19) pandemic has greatly challenged public health authorities worldwide, including in Mauritania. Despite the p...

  • Review
  • Open Access
6 Citations
12,909 Views
19 Pages

14 March 2024

The initiation reactions of DNA synthesis are central processes during human chromosomal DNA replication. They are separated into two main processes: the initiation events at replication origins, the start of the leading strand synthesis for each rep...

  • Article
  • Open Access
3 Citations
2,487 Views
18 Pages

Transcriptome Analysis of miRNA and mRNA in Porcine Skeletal Muscle following Glaesserella parasuis Challenge

  • Huanhuan Zhou,
  • Xuexue Chen,
  • Xiangwei Deng,
  • Xiaoyu Zhang,
  • Xinqi Zeng,
  • Ke Xu and
  • Hongbo Chen

13 March 2024

Glaesserella parasuis (G. parasuis) causes systemic infection in pigs, but its effects on skeletal muscle and underlying mechanisms are poorly understood. We investigated G. parasuis infection in colostrum-deprived piglets, observing decreased daily...

  • Article
  • Open Access
1 Citations
2,325 Views
9 Pages

New Genetic Markers of Skin T-Cell Lymphoma Treatment

  • Vladimír Vašků,
  • Petra Fialová and
  • Anna Vašků

13 March 2024

Aim: Cutaneous T-cell lymphomas (CTCL) can be described as chronic skin inflammation lesions with the content of malignant T cells and they are considered to be T-cell-mediated skin diseases. CD147 is recognized as a 58-kDa cell surface glycoprotein...

  • Article
  • Open Access
4 Citations
3,327 Views
20 Pages

13 March 2024

Non-alcoholic steatohepatitis (NASH, also known as MASH) is a severe form of non-alcoholic fatty liver disease (NAFLD, also known as MASLD). Emerging data indicate that the progression of the disease to MASH is higher in postmenopausal women and that...

  • Article
  • Open Access
4 Citations
2,574 Views
22 Pages

Variation of FMRP Expression in Peripheral Blood Mononuclear Cells from Individuals with Fragile X Syndrome

  • Jamie L. Randol,
  • Kyoungmi Kim,
  • Matthew D. Ponzini,
  • Flora Tassone,
  • Alexandria K. Falcon,
  • Randi J. Hagerman and
  • Paul J. Hagerman

13 March 2024

Fragile X syndrome (FXS) is the most common heritable cause of intellectual disability and autism spectrum disorder. The syndrome is often caused by greatly reduced or absent protein expression from the fragile X messenger ribonucleoprotein 1 (FMR1)...

  • Article
  • Open Access
6 Citations
4,897 Views
10 Pages

A POT1 Founder Variant Associated with Early Onset Recurrent Melanoma and Various Solid Malignancies

  • Aasem Abu Shtaya,
  • Inbal Kedar,
  • Lily Bazak,
  • Lina Basel-Salmon,
  • Sarit Farage Barhom,
  • Michal Naftali,
  • Marina Eskin-Schwartz,
  • Ohad S. Birk,
  • Shirley Polager-Modan and
  • Yael Goldberg
  • + 9 authors

13 March 2024

POT1 (Protection of Telomeres 1) is a key component of the six-membered shelterin complex that plays a critical role in telomere protection and length regulation. Germline variants in the POT1 gene have been implicated in predisposition to cancer, pr...

  • Article
  • Open Access
6 Citations
3,162 Views
23 Pages

12 March 2024

Sweetpotato (Ipomoea batatas L.) is a strategic crop with both economic and energy value. However, improving sweetpotato varieties through traditional breeding approaches can be a time-consuming and labor-intensive process due to the complex genetic...

  • Article
  • Open Access
5 Citations
2,914 Views
15 Pages

Genome-Wide DNA Methylation Analysis and Functional Validation of Litter Size Traits in Jining Grey Goats

  • Cunming Yang,
  • Junmin He,
  • Jingyi Mao,
  • Yifan Ren,
  • Guifen Liu,
  • Chen Wei,
  • Guoping Zhang,
  • Kechuan Tian and
  • Xixia Huang

12 March 2024

DNA methylation (DNAm) is associated with the reproductive system. However, the genetic mechanism through which DNAm regulates gene expression and thus affects litter size in goats is unclear. Therefore, in the present work, genome-wide DNAm profiles...

  • Article
  • Open Access
4 Citations
4,160 Views
13 Pages

A New Cloud-Native Tool for Pharmacogenetic Analysis

  • David Yu Yuan,
  • Jun Hyuk Park,
  • Zhenyu Li,
  • Rohan Thomas,
  • David M. Hwang and
  • Lei Fu

11 March 2024

Background: The advancement of next-generation sequencing (NGS) technologies provides opportunities for large-scale Pharmacogenetic (PGx) studies and pre-emptive PGx testing to cover a wide range of genotypes present in diverse populations. However,...

  • Article
  • Open Access
14 Citations
3,624 Views
11 Pages

Population Structure and Selection Signal Analysis of Nanyang Cattle Based on Whole-Genome Sequencing Data

  • Yan Zhang,
  • Zhitong Wei,
  • Man Zhang,
  • Shiwei Wang,
  • Tengyun Gao,
  • Hetian Huang,
  • Tianliu Zhang,
  • Hanfang Cai,
  • Xian Liu and
  • Dong Liang
  • + 1 author

11 March 2024

With a rich breeding history, Nanyang cattle (NY cattle) have undergone extensive natural and artificial selection, resulting in distinctive traits such as high fertility, excellent meat quality, and disease resistance. This makes them an ideal model...

  • Case Report
  • Open Access
5 Citations
3,640 Views
9 Pages

Leukodystrophy with Macrocephaly, Refractory Epilepsy, and Severe Hyponatremia—The Neonatal Type of Alexander Disease

  • Justyna Paprocka,
  • Magdalena Nowak,
  • Magdalena Machnikowska-Sokołowska,
  • Karolina Rutkowska and
  • Rafał Płoski

11 March 2024

Introduction: Alexander disease (AxD) is a rare neurodegenerative condition that represents the group of leukodystrophies. The disease is caused by GFAP mutation. Symptoms usually occur in the infantile age with macrocephaly, developmental deteriorat...

  • Article
  • Open Access
14 Citations
6,053 Views
13 Pages

A Single-Cell Transcriptome of Bovine Milk Somatic Cells

  • Minja Zorc,
  • Mateja Dolinar and
  • Peter Dovč

10 March 2024

The production of milk by dairy cows far exceeds the nutritional needs of the calf and is vital for the economical use of dairy cattle. High milk yield is a unique production trait that can be effectively enhanced through traditional selection method...

  • Article
  • Open Access
4 Citations
2,585 Views
25 Pages

9 March 2024

Chromatin remodelers are essential for regulating plant growth, development, and responses to environmental stresses. HIT4 (HEAT-INTOLERANT 4) is a novel stress-induced chromatin remodeling factor that has been less studied in abiotic stress and stre...

  • Article
  • Open Access
5 Citations
2,916 Views
18 Pages

Unveiling the Impact of ApoF Deficiency on Liver and Lipid Metabolism: Insights from Transcriptome-Wide m6A Methylome Analysis in Mice

  • Xuebin Shen,
  • Mengting Chen,
  • Jian Zhang,
  • Yifan Lin,
  • Xinyue Gao,
  • Jionghong Tu,
  • Kunqi Chen,
  • An Zhu and
  • Shanghua Xu

9 March 2024

Lipid metabolism participates in various physiological processes and has been shown to be connected to the development and progression of multiple diseases, especially metabolic hepatopathy. Apolipoproteins (Apos) act as vectors that combine with lip...

  • Review
  • Open Access
4 Citations
9,382 Views
22 Pages

Trisomy 22 Mosaicism from Prenatal to Postnatal Findings: A Case Series and Systematic Review of the Literature

  • Valentina Trevisan,
  • Anna Meroni,
  • Chiara Leoni,
  • Fabio Sirchia,
  • Davide Politano,
  • Giacomo Fiandrino,
  • Valentina Giorgio,
  • Donato Rigante,
  • Domenico Limongelli and
  • Roberta Onesimo
  • + 8 authors

8 March 2024

Background: Among aneuploidies compatible with life, trisomy 22 mosaicism is extremely rare, and only about 25 postnatal and 18 prenatal cases have been described in the literature so far. The condition is mainly characterized by facial and body asym...

  • Article
  • Open Access
3 Citations
3,099 Views
13 Pages

Spectrum of Mutations in PTPN11 in Russian Cohort

  • Anna Orlova,
  • Daria Guseva,
  • Nina Demina,
  • Aleksander Polyakov and
  • Oksana Ryzhkova

7 March 2024

Noonan syndrome is a group of diseases with a similar clinical picture, consisting of 16 diseases caused by mutations in 15 genes. According to the literature, approximately half of all cases are attributed to Noonan syndrome type 1, NSML, caused by...

  • Article
  • Open Access
11 Citations
3,366 Views
14 Pages

Computing Power and Sample Size for the False Discovery Rate in Multiple Applications

  • Yonghui Ni,
  • Anna Eames Seffernick,
  • Arzu Onar-Thomas and
  • Stanley B. Pounds

7 March 2024

The false discovery rate (FDR) is a widely used metric of statistical significance for genomic data analyses that involve multiple hypothesis testing. Power and sample size considerations are important in planning studies that perform these types of...

  • Article
  • Open Access
1 Citations
2,549 Views
18 Pages

7 March 2024

Fenugreek (Trigonella foenum-graecum L.) is a traditional medicinal plant for treating human diseases that is widely cultivated in many countries. However, the component and related metabolic pathways are still unclear. To understand the changes in e...

  • Article
  • Open Access
8 Citations
4,262 Views
11 Pages

Optical Genome Mapping as a Potential Routine Clinical Diagnostic Method

  • Hayk Barseghyan,
  • Doris Eisenreich,
  • Evgenia Lindt,
  • Martin Wendlandt,
  • Florentine Scharf,
  • Anna Benet-Pages,
  • Kai Sendelbach,
  • Teresa Neuhann,
  • Angela Abicht and
  • Udo Koehler
  • + 1 author

7 March 2024

Chromosome analysis (CA) and chromosomal microarray analysis (CMA) have been successfully used to diagnose genetic disorders. However, many conditions remain undiagnosed due to limitations in resolution (CA) and detection of only unbalanced events (C...

  • Article
  • Open Access
1 Citations
2,692 Views
16 Pages

7 March 2024

Bioinformatics is a rapidly developing field enabling scientific experiments via computer models and simulations. In recent years, there has been an extraordinary growth in biological databases. Therefore, it is extremely important to propose effecti...

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Genes - ISSN 2073-4425