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  • Article
  • Open Access
11 Citations
6,986 Views
17 Pages

5′ Region Large Genomic Rearrangements in the BRCA1 Gene in French Families: Identification of a Tandem Triplication and Nine Distinct Deletions with Five Recurrent Breakpoints

  • Sandrine M. Caputo,
  • Dominique Telly,
  • Adrien Briaux,
  • Julie Sesen,
  • Maurizio Ceppi,
  • Françoise Bonnet,
  • Violaine Bourdon,
  • Florence Coulet,
  • Laurent Castera and
  • Capucine Delnatte
  • + 17 authors

25 June 2021

Background: Large genomic rearrangements (LGR) in BRCA1 consisting of deletions/duplications of one or several exons have been found throughout the gene with a large proportion occurring in the 5′ region from the promoter to exon 2. The aim of this s...

  • Article
  • Open Access
20 Citations
5,567 Views
14 Pages

18 September 2019

The SWEET family, which includes transcripts of a cohort of plant hexose and sucrose transporters, is considered key to improving crop stress tolerance and yield through its role in manipulating the carbohydrate partitioning process. The functions an...

  • Article
  • Open Access
3 Citations
2,062 Views
20 Pages

Divergent Retention of Sucrose Metabolism Genes after Whole Genome Triplication in the Tomato (Solanum lycopersicum)

  • Yang Xu,
  • Zhuping Yao,
  • Yuan Cheng,
  • Meiying Ruan,
  • Qingjing Ye,
  • Rongqing Wang,
  • Guozhi Zhou,
  • Jia Liu,
  • Chaochao Liu and
  • Hongjian Wan

13 December 2023

Sucrose, the primary carbon transport mode and vital carbohydrate for higher plants, significantly impacts plant growth, development, yield, and quality formation. Its metabolism involves three key steps: synthesis, transport, and degradation. Two ge...

  • Article
  • Open Access
2,309 Views
8 Pages

Triplication of the PCDH19 Gene as a Novel Disease Mechanism Leading to Epileptic Encephalopathy Resembling Loss-of-Function Pathogenic Variants

  • Alba Gabaldón-Albero,
  • Patricia Smeyers,
  • Sara Hernández-Muela,
  • Mónica Roselló,
  • Carmen Orellana,
  • Sandra Monfort,
  • Silvestre Oltra and
  • Francisco Martínez

12 October 2024

Background/Objectives: Developmental and epileptic encephalopathy 9 (DEE9) (MIM #300088) affects heterozygous females and males with somatic pathogenic variants, while male carriers with hemizygous PCDH19 pathogenic variants are clinically unaffected...

  • Case Report
  • Open Access
3 Citations
6,164 Views
18 Pages

A Case of Inherited t(4;10)(q26;q26.2) Chromosomal Translocation Elucidated by Multiple Chromosomal and Molecular Analyses. Case Report and Review of the Literature

  • Roxana Popescu,
  • Mihaela Grămescu,
  • Lavinia Caba,
  • Monica-Cristina Pânzaru,
  • Lăcrămioara Butnariu,
  • Elena Braha,
  • Setalia Popa,
  • Cristina Rusu,
  • Georgeta Cardos and
  • Monica Zeleniuc
  • + 6 authors

7 December 2021

We present a complex chromosomal anomaly identified using cytogenetic and molecular methods. The child was diagnosed during the neonatal period with a multiple congenital anomalies syndrome characterized by: flattened occipital region; slight turrice...

  • Article
  • Open Access
11 Citations
3,729 Views
19 Pages

Genome-Wide Identification and Characterization of Pectin Methylesterase Inhibitor Genes in Brassica oleracea

  • Tingting Liu,
  • Hui Yu,
  • Xingpeng Xiong,
  • Youjian Yu,
  • Xiaoyan Yue,
  • Jinlong Liu and
  • Jiashu Cao

26 October 2018

The activities of pectin methylesterases (PMEs) are regulated by pectin methylesterase inhibitors (PMEIs), which consequently control the pectin methylesterification status. However, the role of PMEI genes in Brassica oleracea, an economically import...

  • Article
  • Open Access
5 Citations
3,950 Views
29 Pages

Narrow-leafed lupin (Lupinus angustifolius L.) has recently been supplied with advanced genomic resources and, as such, has become a well-known model for molecular evolutionary studies within the legume family—a group of plants able to fix nitr...

  • Case Report
  • Open Access
1,637 Views
6 Pages

Triple Tooth in Primary Dentition: A Rare Case Report

  • Maria Teresa Xavier,
  • Sara Rosa,
  • Ana Daniela Soares,
  • Inês Nunes,
  • Bárbara Cunha and
  • Ana Luísa Costa

21 March 2025

The occurrence of triplication in the deciduous teeth is rare. However, it can cause several problems in primary dentition, alteration of development, and eruption of permanent successors. Case Presentation: A three-year-old boy presented with an exu...

  • Article
  • Open Access
3 Citations
2,684 Views
14 Pages

BrPARP1, a Poly (ADP-Ribose) Polymerase Gene, Is Involved in Root Development in Brassica rapa under Drought Stress

  • Gangqiang Cao,
  • Wenjing Jiang,
  • Gongyao Shi,
  • Zhaoran Tian,
  • Jingjing Shang,
  • Zhengqing Xie,
  • Weiwei Chen,
  • Baoming Tian,
  • Xiaochun Wei and
  • Fang Wei
  • + 1 author

PARP proteins are highly conserved homologs among the eukaryotic poly (ADP-ribose) polymerases. After activation, ADP-ribose polymers are synthesized on a series of ribozymes that use NAD+ as a substrate. PARPs participate in the regulation of variou...

  • Article
  • Open Access
1 Citations
2,323 Views
16 Pages

Genome-Wide Analysis of the NBS-LRR Gene Family and SSR Molecular Markers Development in Solanaceae

  • Xiaoming Song,
  • Chunjin Li,
  • Zhuo Liu,
  • Rong Zhou,
  • Shaoqin Shen,
  • Tong Yu,
  • Li Jia and
  • Nan Li

The Solanaceae family occupies a significant position, and the study of resistance genes within this family is extremely valuable. Therefore, our goal is to examine disease resistance genes based on the high-quality representative genomes of Solanace...

  • Communication
  • Open Access
3 Citations
3,575 Views
14 Pages

6 August 2021

Down syndrome (DS) is one of the most complex genetic disorders in humans and a leading genetic cause of developmental delays and intellectual disabilities. The mouse remains an essential model organism in DS research because human chromosome 21 (Hsa...

  • Article
  • Open Access
5 Citations
4,660 Views
15 Pages

7 July 2019

The pattern of micro-electricity production of simple two-chamber microbial fuel cells (MFC) was monitored in this study. Piggery wastewater and anaerobic sludge served as fuel and inocula for the MFC, respectively. The output power, including voltag...

  • Article
  • Open Access
6 Citations
2,434 Views
29 Pages

This study investigated the effects of dietary commercial feed (n = 50,025 in triplicate, named group PF for soil dike pond, sampling n = 7; n = 15,000 in triplicate, WF for water tank, n = 8), iced fish (n = 50,025 in triplicate, PI, n = 7), and a c...

  • Article
  • Open Access
7 Citations
3,762 Views
13 Pages

16 February 2022

Uniquely, oats contain avenanthramides (AVAs), a group of phenolic alkaloids, exhibiting many health benefits. AVA analysis involves extraction with alcohol-based solvents and HPLC separation with UV and/or mass spectrometer detectors. There are many...

  • Article
  • Open Access
2,314 Views
11 Pages

3 October 2023

The Ynbs (Yunnan branched-spike) mutant of naked barley with a branched spike displays some special traits, such as more degenerated multiple spikelets per spike and florets per multiple spikelets and a lower seed-setting rate. However, there is stil...

  • Article
  • Open Access
19 Citations
3,197 Views
20 Pages

Pentafuhalol-B, a Phlorotannin from Brown Algae, Strongly Inhibits the PLK-1 Overexpression in Cancer Cells as Revealed by Computational Analysis

  • Waseem Ahmad Ansari,
  • Safia Obaidur Rab,
  • Mohammad Saquib,
  • Aqib Sarfraz,
  • Mohd Kamil Hussain,
  • Mohd Sayeed Akhtar,
  • Irfan Ahmad and
  • Mohammad Faheem Khan

3 August 2023

Polo-like kinase-1 (PLK-1) is an essential mitotic serine/threonine (Ser/Thr) kinase that belongs to the Polo-like kinase (PLK) family and is overexpressed in non-small cell lung cancer (NSCLC) via promotion of cell division. Therefore, PLK-1 may act...

  • Brief Report
  • Open Access
1 Citations
1,152 Views
8 Pages

29 November 2024

Typically, root system architecture (RSA) is not visible, and realistically, high-throughput methods for RSA trait phenotyping should capture key features of developing root systems in solid substrates in 3D. In a published 2-D study using thin rhizo...

  • Article
  • Open Access
1 Citations
1,854 Views
14 Pages

27 December 2023

The aim of this study was to compare the viscoelastic properties of a decellularized mesh from the porcine esophagus, prepared by our group, with two commercial acellular tissues derived from porcine small intestine submucosa and bovine pericardium f...

  • Article
  • Open Access
1,269 Views
15 Pages

Adaptive Laboratory Evolution of Flavin Functionality Identifies Dihydrolipoyl Dehydrogenase as One of the Critical Points for the Activity of 7,8-Didemethyl-Riboflavin as a Surrogate for Riboflavin in Escherichia coli

  • Farshad La-Rostami,
  • Alexandra Scharf,
  • Chenyang Albert,
  • Nils Wax,
  • Marina Creydt,
  • Boris Illarionov,
  • Adelbert Bacher,
  • Stefan Weber and
  • Markus Fischer

13 December 2024

Riboflavin analogs lacking one methyl group (7α or 8α) can still serve as a surrogate for riboflavin in riboflavin-deficient microorganisms or animals. The absence of both methyl groups at once completely abolishes this substitution capab...

  • Article
  • Open Access
13 Citations
9,219 Views
26 Pages

29 January 2007

This contribution serves a dual purpose. The first purpose was to investigate the possibility of using a sensor array (an electronic tongue) for on-line identification and quantification of key odorants representing a variety of chemical groups at tw...

  • Article
  • Open Access
1 Citations
1 Views
3 Pages

Two Rare Hemoglobin Variants with α Thalassemia in Eastern Indian Population

  • Dipanwita Das,
  • Nandini Chattopadhyay,
  • Arghya Mukherjee,
  • Dhrubajyoti Chattopadhyay,
  • Prantar Chakrabarti,
  • Utpal Chaudhuri and
  • Sila Chakrabarti

The current work focuses on two rare hemoglobin (Hb) variants - Hb Grange-Blanche and Hb Hofu - found for the first time in association with α-thalassemia in Eastern India. The unusual case of Hb Grange-Blanche and FS 41/42(-CTTT) mutations in cis th...

  • Article
  • Open Access
13 Citations
2,491 Views
17 Pages

Computational Exploration of Licorice for Lead Compounds against Plasmodium vivax Duffy Binding Protein Utilizing Molecular Docking and Molecular Dynamic Simulation

  • Muhammad Yasir,
  • Jinyoung Park,
  • Eun-Taek Han,
  • Won Sun Park,
  • Jin-Hee Han,
  • Yong-Soo Kwon,
  • Hee-Jae Lee and
  • Wanjoo Chun

11 April 2023

Plasmodium vivax (P. vivax) is one of the human’s most common malaria parasites. P. vivax is exceedingly difficult to control and eliminate due to the existence of extravascular reservoirs and recurring infections from latent liver stages. Trad...

  • Review
  • Open Access
37 Citations
6,008 Views
14 Pages

The BACH1/Nrf2 Axis in Brain in Down Syndrome and Transition to Alzheimer Disease-Like Neuropathology and Dementia

  • Marzia Perluigi,
  • Antonella Tramutola,
  • Sara Pagnotta,
  • Eugenio Barone and
  • D. Allan Butterfield

21 August 2020

Down syndrome (DS) is the most common genetic cause of intellectual disability that is associated with an increased risk to develop early-onset Alzheimer-like dementia (AD). The brain neuropathological features include alteration of redox homeostasis...

  • Article
  • Open Access
10 Citations
3,997 Views
20 Pages

Nuclear Reorganization in Hippocampal Granule Cell Neurons from a Mouse Model of Down Syndrome: Changes in Chromatin Configuration, Nucleoli and Cajal Bodies

  • Alba Puente-Bedia,
  • María T. Berciano,
  • Olga Tapia,
  • Carmen Martínez-Cué,
  • Miguel Lafarga and
  • Noemí Rueda

27 January 2021

Down syndrome (DS) or trisomy of chromosome 21 (Hsa21) is characterized by impaired hippocampal-dependent learning and memory. These alterations are due to defective neurogenesis and to neuromorphological and functional anomalies of numerous neuronal...

  • Article
  • Open Access
3 Citations
2,077 Views
12 Pages

Comparison of Telomere Length in Age-Matched Primiparous and Multiparous Brahman Cows

  • Sydney E. O’Daniel,
  • Kelli J. Kochan,
  • Charles R. Long,
  • David G. Riley,
  • Ronald D. Randel and
  • Thomas H. Welsh

16 July 2023

Physiological and psychological stressors have been associated with the attrition of telomeres, which are the protective caps of chromosomes. This study compares the telomere length (TL) in 4-year-old Brahman cows grouped by the first parity (n = 8)...

  • Article
  • Open Access
11 Citations
3,360 Views
16 Pages

25 January 2023

The aim of this study was to investigate leachable components (monomers) in high and low viscosity dental bulk-fill resin composites and conventional resin composite materials after polymerization. Six bulk-fill and six conventional dental resin comp...

  • Article
  • Open Access
2 Citations
3,101 Views
18 Pages

24 September 2024

The logic structures implemented in Field Programmable Gate Arrays (FPGAs) are often critical and their correct operation is vital. FPGA devices are often used in areas where there is increased ionising radiation (space, medical diagnostics, aviation...

  • Article
  • Open Access
10 Citations
10,303 Views
10 Pages

28 October 2020

Dynamic mobilisation exercises (DME) are often used as part of a physiotherapy rehabilitation programme. Whilst immediate kinematic effects have been measured, the change in posture is anecdotally reported to have a longer duration. This study aimed...

  • Article
  • Open Access
2 Citations
2,325 Views
20 Pages

20 December 2022

We study the evolution of the energy of a harmonic oscillator when its frequency slowly varies with time and passes through a zero value. We consider both the classical and quantum descriptions of the system. We show that after a single frequency pas...

  • Article
  • Open Access
5 Citations
4,372 Views
17 Pages

Heat Capacity of Drained Peat Soils

  • Tomasz Gnatowski,
  • Ewa Ostrowska-Ligęza,
  • Cedric Kechavarzi,
  • Grzegorz Kurzawski and
  • Jan Szatyłowicz

1 February 2022

Soil-specific heat capacity (cp) and volumetric heat capacity (Cv) are recognized as a fundamental soil property essential for the accurate prediction of soil temperature and heat flow. This study presents the analysis of these thermal properties for...

  • Article
  • Open Access
48 Citations
3,767 Views
21 Pages

The native function of amyloid-β (Aβ) peptides is still unexplored. However, several recent reports suggest a prominent role of Aβ peptides in acetylcholine homeostasis. To clarify this role of Aβ, we have reported that Aβ pe...

  • Review
  • Open Access
2 Citations
2,087 Views
15 Pages

13 December 2024

Infantile spasms are common in Down Syndrome (DS), but the mechanisms by which DS predisposes to this devastating epilepsy syndrome are unclear. In general, neuronal excitability and therefore seizure predisposition results from an imbalance of excit...

  • Brief Report
  • Open Access
2 Citations
1,778 Views
12 Pages

Advanced Analysis and Validation of a microRNA Signature for Fanconi Anemia

  • Enrico Cappelli,
  • Silvia Ravera,
  • Nadia Bertola,
  • Federica Grilli,
  • Margherita Squillario,
  • Stefano Regis and
  • Paolo Degan

21 June 2024

Some years ago, we reported the generation of a Fanconi anemia (FA) microRNA signature. This study aims to develop an analytical strategy to select a smaller and more reliable set of molecules that could be tested for potential benefits for the FA ph...

  • Article
  • Open Access
41 Citations
7,218 Views
18 Pages

25 October 2019

A Plant Microbial Fuel Cell (Plant-MFCs) has been studied both in the lab and in a field. So far, field studies were limited to a more conventional Plant-MFC design, which submerges the anode in the soil and places the cathode above the soil surface....

  • Article
  • Open Access
552 Views
11 Pages

Haemoglobinopathies: Integrated Biochemical and Molecular Diagnosis in 5243 Patients

  • Domenico Dell’Edera,
  • Brunilde Persia,
  • Francesco La Rocca and
  • Carmela Centoducati

14 October 2025

Background: Haemoglobinopathies are among the most common monogenic disorders worldwide. Early identification of asymptomatic carriers through reliable screening and molecular diagnostics is crucial for prevention programmes, especially in high-preva...

  • Article
  • Open Access
357 Views
19 Pages

5 December 2025

Objective. To determine how bamboo loadings (2.5–5 wt%) and compatibilization with PBAT-g-MAH (BP-1, 10 wt%) affect melt flow and early-time mineralization of PLA biocomposites under near-ambient soil–compost conditions (ASTM D5988), whil...

  • Article
  • Open Access
1 Citations
2,352 Views
11 Pages

Sediment Bed Borehole Advection Method

  • Scott Augustine,
  • Jaehyun Cho,
  • Harald Klammler,
  • Kirk Hatfield and
  • Michael D. Annable

2 December 2020

This paper introduces and tests the Sediment Bed Borehole Advection Method (SBBAM), a low cost, point-measurement technique which utilizes a push-point probe to quantify the vertical direction and magnitude of Darcy flux at the surface water—gr...

  • Communication
  • Open Access
16 Citations
4,392 Views
10 Pages

Heterologous Expression of the Core Genes in the Complex Fusarubin Gene Cluster of Fusarium Solani

  • Tobias Bruun Pedersen,
  • Mikkel Rank Nielsen,
  • Sebastian Birkedal Kristensen,
  • Eva Mie Lang Spedtsberg,
  • Wafaa Yasmine,
  • Rikke Matthiesen,
  • Samba Evelyne Kabemba Kaniki,
  • Trine Sørensen,
  • Celine Petersen and
  • Jens Muff
  • + 4 authors

14 October 2020

Through stepwise recreation of the biosynthetic gene cluster containing PKS3 from Fusarium solani, it was possible to produce the core scaffold compound of bostrycoidin, a red aza-anthraquinone pigment in Saccharomyces cerevisiae. This was achieved t...

  • Proceeding Paper
  • Open Access
69 Views
7 Pages

Effect of Voltage and Ag Concentration on the Formation of Ag Nanostructures on TiO2 Nanotubes

  • Guadalupe Mata,
  • Alan Maytorena,
  • Oscar Velázquez,
  • Marbeyalit Tiburcio,
  • Luiz Zamora,
  • Julián Hernández,
  • Leandro García,
  • Teresita Olivares and
  • Leticia Pérez

Surface-enhanced Raman spectroscopy (SERS) is a highly sensitive technique for detecting heavy metals through the plasmonic effect of metallic nanoparticles. In this study, TiO2 nanotubes were used as substrates due to their stability, large surface...

  • Article
  • Open Access
5 Citations
2,578 Views
21 Pages

24 March 2024

Lard (LD) and Basa fish offal oil (BFO) have similar fatty acid profiles, both containing high contents of saturated fatty acids (SFA) and monounsaturated fatty acids (MUFA). The present study aimed to investigate the efficacy of partial or complete...

  • Article
  • Open Access
4 Citations
3,411 Views
13 Pages

Evaluation of Biofloc-Based Probiotic Isolates on Growth Performance and Physiological Responses in Litopenaeus vannamei

  • Meenakshisundaram Menaga,
  • Perepi Rajasulochana,
  • Sugantham Felix,
  • Shanmugam Sudarshan,
  • Ashish Kapoor,
  • Kumaraswamy Gandla,
  • Moustafa M. Saleh,
  • Adel Ehab Ibrahim and
  • Sami El Deeb

21 August 2023

A comparison of the growth performance of Penaeus vannamei was ascertained by supplementing the potential probiotics isolated from a biofloc system incorporated through feed. Post-larvae shrimp (0.045 ± 0.005 g) were stocked at a density of 50...

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

Computational Study on Selective PDE9 Inhibitors on PDE9-Mg/Mg, PDE9-Zn/Mg, and PDE9-Zn/Zn Systems

  • Dakshinamurthy Sivakumar,
  • Sathishkumar Mudedla,
  • Seonghun Jang,
  • Hyunjun Kim,
  • Hyunjin Park,
  • Yonwon Choi,
  • Joongyo Oh and
  • Sangwook Wu

PDE9 inhibitors have been studied to validate their potential to treat diabetes, neurodegenerative disorders, cardiovascular diseases, and erectile dysfunction. In this report, we have selected highly potent previously reported selective PDE9 inhibit...

  • Article
  • Open Access
12 Citations
6,834 Views
11 Pages

Far-Infrared Therapy Accelerates Diabetic Wound Healing via Recruitment of Tissue Angiogenesis in a Full-Thickness Wound Healing Model in Rats

  • Rong-Fu Chen,
  • Keng-Fan Liu,
  • Su-Shin Lee,
  • Shu-Hung Huang,
  • Yi-Chia Wu,
  • Yun-Nan Lin,
  • Chun-Ting Wang and
  • Yur-Ren Kuo

15 December 2021

Far-infrared ray (FIR) therapy has been applied in the tissue regeneration field. Studies have revealed that FIR could enhance wound healing. However, the biological effects of FIR on diabetic wounds remain unclear. Our study aims to investigate whet...

  • Article
  • Open Access
9 Citations
7,688 Views
18 Pages

Production of Fumaric Acid by Rhizopus arrhizus NRRL 1526: A Simple Production Medium and the Kinetic Modelling of the Bioprocess

  • Victor Martin-Dominguez,
  • Paula I. Aleman Cabrera,
  • Laslo Eidt,
  • Ulf Pruesse,
  • Anja Kuenz,
  • Miguel Ladero and
  • Victoria E. Santos

Fumaric acid is a promising monomer to obtain biomass-based polyesters and polyamides, and it is mainly produced by fungi of the Rhizopus genus in medium to high titters. The use of glucose, a main component of starchy and cellulosic food waste, as c...

  • Article
  • Open Access
14 Citations
10,266 Views
7 Pages

The acclimation possibilities to copper in Bufo arenarum embryos was evaluated by means of three different low level copper exposure conditions during 14 days. By the end of the acclimation period the copper content in control embryos was 1.04 ± 0.09...

  • Article
  • Open Access
40 Citations
4,937 Views
14 Pages

Impact of Temperature, Ethanol and Cell Wall Material Composition on Cell Wall-Anthocyanin Interactions

  • Cristina Medina-Plaza,
  • Jordan W. Beaver,
  • Larry Lerno,
  • Nick Dokoozlian,
  • Ravi Ponangi,
  • Tom Blair,
  • David E. Block and
  • Anita Oberholster

14 September 2019

The effects of temperature and ethanol concentration on the kinetics of anthocyanin adsorption and desorption interactions with five cell wall materials (CWM) of different composition were investigated. Using temperatures of 15 °C and 30 °C a...

  • Review
  • Open Access
17 Citations
18,990 Views
24 Pages

Anatomical Variations of the External Jugular Vein: A Pictorial and Critical Review

  • Mugurel Constantin Rusu,
  • Răzvan Costin Tudose,
  • Alexandra Diana Vrapciu,
  • Corneliu Toader and
  • Şerban Arghir Popescu

21 March 2023

(1) Background: The external jugular vein (EJV) descends on the sternocleidomastoid muscle to drain deep into the subclavian vein. Anatomical variations of the EJV are relevant for identification of the greater auricular nerve, flap design and prepar...

  • Article
  • Open Access
5 Citations
3,703 Views
19 Pages

Effects of the Bioturbating Marine Yabby Trypaea australiensis on Sediment Properties in Sandy Sediments Receiving Mangrove Leaf Litter

  • Ryan J. K. Dunn,
  • David T. Welsh,
  • Peter R. Teasdale,
  • Franck Gilbert,
  • Jean-Christophe Poggiale and
  • Nathan J. Waltham

25 November 2019

Laboratory mesocosm incubations were undertaken to investigate the influence of burrowing shrimp Trypaea australiensis (marine yabby) on sediment reworking, physical and chemical sediment characteristics and nutrients in sandy sediments receiving man...

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