You are currently viewing a new version of our website. To view the old version click .

51 Results Found

  • Article
  • Open Access
6 Citations
2,618 Views
9 Pages

Fitness Cost of Imazamox Resistance in Wild Poinsettia (Euphorbia heterophylla L.)

  • Saeid Hassanpour-bourkheili,
  • Mahtab Heravi,
  • Javid Gherekhloo,
  • Ricardo Alcántara-de la Cruz and
  • Rafael De Prado

26 November 2020

Wild poinsettia (Euphorbia heterophylla L.) is a difficult-to-control weed in soybean production in Brazil that has developed resistance to herbicides, including acetolactate synthase inhibitors. We investigated the potential fitness cost associated...

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

Evaluation of the Structure–Function Relationship of SGNH Lipase from Streptomyces rimosus by Site-Directed Mutagenesis and Computational Approach

  • Želimira Filić,
  • Ana Bielen,
  • Ela Šarić,
  • Mirsada Ćehić,
  • Ivo Crnolatac,
  • Sanja Tomić,
  • Dušica Vujaklija and
  • Marija Abramić

Streptomyces rimosus extracellular lipase (SrL) is a multifunctional hydrolase belonging to the SGNH family. Here site-directed mutagenesis (SDM) was used for the first time to investigate the functional significance of the conserved amino acid resid...

  • Article
  • Open Access
43 Citations
7,413 Views
13 Pages

Clinical and Molecular Characterization of Patients with Fructose 1,6-Bisphosphatase Deficiency

  • Niu Li,
  • Guoying Chang,
  • Yufei Xu,
  • Yu Ding,
  • Guoqiang Li,
  • Tingting Yu,
  • Yanrong Qing,
  • Juan Li,
  • Yiping Shen and
  • Jian Wang
  • + 1 author

Fructose-1,6-bisphosphatase (FBPase) deficiency is a rare, autosomal recessive inherited disease caused by the mutation of the FBP1 gene, the incidence is estimated to be between 1/350,000 and 1/900,000. The symptoms of affected individuals are non-s...

  • Article
  • Open Access
6 Citations
2,905 Views
13 Pages

Compound Heterozygous FKTN Variants in a Patient with Dilated Cardiomyopathy Led to an Aberrant α-Dystroglycan Pattern

  • Anna Gaertner,
  • Lidia Burr,
  • Baerbel Klauke,
  • Andreas Brodehl,
  • Kai Thorsten Laser,
  • Karin Klingel,
  • Jens Tiesmeier,
  • Uwe Schulz,
  • Edzard zu Knyphausen and
  • Jan Gummert
  • + 1 author

Fukutin encoded by FKTN is a ribitol 5-phosphate transferase involved in glycosylation of α-dystroglycan. It is known that mutations in FKTN affect the glycosylation of α-dystroglycan, leading to a dystroglycanopathy. Dystroglycanopathies...

  • Article
  • Open Access
4 Citations
2,479 Views
16 Pages

A Combination of M50I and V151I Polymorphic Mutations in HIV-1 Subtype B Integrase Results in Defects in Autoprocessing

  • Jun Yang,
  • Ming Hao,
  • Muhammad A. Khan,
  • Muhammad T. Rehman,
  • Helene C. Highbarger,
  • Qian Chen,
  • Suranjana Goswami,
  • Brad T. Sherman,
  • Catherine A. Rehm and
  • Robin L. Dewar
  • + 2 authors

22 November 2021

We have recently reported that a recombinant HIV-1NL4.3 containing Met-to-Ile change at codon 50 of integrase (IN) (IN:M50I) exhibits suppression of the virus release below 0.5% of WT HIV, and the released viral particles are replication-incompetent...

  • Article
  • Open Access
4 Citations
5,732 Views
13 Pages

Structural and Functional Impact of Seven Missense Variants of Phenylalanine Hydroxylase

  • Martina Pecimonova,
  • Daniela Kluckova,
  • Frantisek Csicsay,
  • Kamila Reblova,
  • Jan Krahulec,
  • Dagmar Procházkova,
  • Ludovit Skultety,
  • Ludevit Kadasi and
  • Andrea Soltysova

15 June 2019

The molecular genetics of well-characterized inherited diseases, such as phenylketonuria (PKU) and hyperphenylalaninemia (HPA) predominantly caused by mutations in the phenylalanine hydroxylase (PAH) gene, is often complicated by the identification o...

  • Article
  • Open Access
8 Citations
2,590 Views
9 Pages

Mycoplasma hyorhinis is ubiquitous in swine, and it is a common pathogen of swine that causes polyserositis, arthritis, and maybe pneumonia. Fluoroquinolones are effective antimicrobials used for the treatment of mycoplasmal infection. However, a dec...

  • Article
  • Open Access
5 Citations
4,654 Views
12 Pages

Dental Anomalies in Ciliopathies: Lessons from Patients with BBS2, BBS7, and EVC2 Mutations

  • Piranit Kantaputra,
  • Prapai Dejkhamron,
  • Rekwan Sittiwangkul,
  • Kamornwan Katanyuwong,
  • Chumpol Ngamphiw,
  • Nuntigar Sonsuwan,
  • Worrachet Intachai,
  • Sissades Tongsima,
  • Philip L. Beales and
  • Worakanya Buranaphatthana

27 December 2022

Objective: To investigate dental anomalies and the molecular etiology of a patient with Ellis–van Creveld syndrome and two patients with Bardet–Biedl syndrome, two examples of ciliopathies. Patients and Methods: Clinical examination, radi...

  • Article
  • Open Access
11 Citations
4,818 Views
19 Pages

Functional Characterization and Structure-Guided Mutational Analysis of the Transsulfuration Enzyme Cystathionine γ-Lyase from Toxoplasma gondii

  • Elena Maresi,
  • Giacomo Janson,
  • Silvia Fruncillo,
  • Alessandro Paiardini,
  • Rosario Vallone,
  • Paola Dominici and
  • Alessandra Astegno

Sulfur-containing amino acids play essential roles in many organisms. The protozoan parasite Toxoplasma gondii includes the genes for cystathionine β-synthase and cystathionine γ-lyase (TgCGL), as well as for cysteine synthase, which are c...

  • Case Report
  • Open Access
2 Citations
2,595 Views
11 Pages

Experience of Hereditary Amyloidosis with Rare Variant in Ecuador: Case Reports

  • Diana Elizabeth Luzuriaga Carpio,
  • Borys Roberto Abrigo Maldonado and
  • Humberto Villacorta

21 October 2024

More than approximately 120 transthyretin mutations are known. Their clinical presentation is heterogeneous, as the course of disease onset depends on genetic variation and level of penetrance. They are little known in Ecuador, and some of the report...

  • Case Report
  • Open Access
6 Citations
3,309 Views
7 Pages

Migalastat Treatment in a Kidney-Transplanted Patient with Fabry Disease and N215S Mutation: The First Case Report

  • Valeria Di Stefano,
  • Marta Mancarella,
  • Antonia Camporeale,
  • Anna Regalia,
  • Marta Ferraresi,
  • Marco Pisaniello,
  • Elena Cassinerio,
  • Federico Pieruzzi and
  • Irene Motta

14 December 2021

Fabry disease is a rare X-linked lysosomal storage disorder caused by mutations in the GLA gene, leading to deficient α-galactosidase A activity and, consequently, to glycosphingolipid accumulation in a wide variety of cells. Fabry disease due...

  • Article
  • Open Access
2 Citations
4,052 Views
14 Pages

Identification of Two Homozygous Variants in MYBPC3 and SMYD1 Genes Associated with Severe Infantile Cardiomyopathy

  • Marta W. Szulik,
  • Miguel Reyes-Múgica,
  • Daniel F. Marker,
  • Ana M. Gomez,
  • Matthew D. Zinn,
  • Leslie K. Walsh,
  • Juan Pablo Ochoa,
  • Sarah Franklin and
  • Lina Ghaloul-Gonzalez

6 March 2023

Mutations in cardiac genes are one of the primary causes of infantile cardiomyopathy. In this study, we report the genetic findings of two siblings carrying variations in the MYBPC3 and SMYD1 genes. The first patient is a female proband exhibiting hy...

  • Communication
  • Open Access
36 Citations
6,109 Views
15 Pages

30 April 2020

Canine parvovirus (CPV-2) is the causative agent of haemorrhagic gastroenteritis in canids. Three antigenic variants—CPV-2a, CPV-2b and CPV-2c—have been described, which are determined by variations at residue 426 of the VP2 capsid protei...

  • Article
  • Open Access
17 Citations
8,600 Views
14 Pages

Mutational Spectrum of the ABCA12 Gene and Genotype–Phenotype Correlation in a Cohort of 64 Patients with Autosomal Recessive Congenital Ichthyosis

  • Alrun Hotz,
  • Julia Kopp,
  • Emmanuelle Bourrat,
  • Vinzenz Oji,
  • Kira Süßmuth,
  • Katalin Komlosi,
  • Bakar Bouadjar,
  • Iliana Tantcheva-Poór,
  • Maritta Hellström Pigg and
  • Regina C. Betz
  • + 11 authors

15 March 2023

Autosomal recessive congenital ichthyosis (ARCI) is a non-syndromic congenital disorder of cornification characterized by abnormal scaling of the skin. The three major phenotypes are lamellar ichthyosis, congenital ichthyosiform erythroderma, and har...

  • Article
  • Open Access
26 Citations
5,552 Views
12 Pages

Different Mutations Providing Target Site Resistance to ALS- and ACCase-Inhibiting Herbicides in Echinochloa spp. from Rice Fields

  • Ignacio Amaro-Blanco,
  • Yolanda Romano,
  • Jose Antonio Palmerin,
  • Raquel Gordo,
  • Candelario Palma-Bautista,
  • Rafael De Prado and
  • María Dolores Osuna

Echinochloa spp. is one of the most invasive weeds in rice fields worldwide. Acetolactate synthase (ALS) and acetyl-CoA carboxylase (ACCase) inhibiting herbicides are two of the most widely used rice herbicides. However, overuse has led to the resist...

  • Article
  • Open Access
601 Views
17 Pages

7 November 2025

Background: Levofloxacin is a broad-spectrum third-generation fluoroquinolone with bactericidal activity against Streptococcus species. We aimed to investigate the susceptibility rates of levofloxacin, the genetic determinants contributing to resista...

  • Article
  • Open Access
3 Citations
2,519 Views
11 Pages

Description of Joint Alterations Observed in a Family Carrying p.Asn453Ser COMP Variant: Clinical Phenotypes, In Silico Prediction of Functional Impact on COMP Protein and Stability, and Review of the Literature

  • Quitterie Rochoux,
  • Jana Sopkova-de Oliveira Santos,
  • Christian Marcelli,
  • Anne Rovelet-Lecrux,
  • Virginie Chevallier,
  • Jean-Jacques Dutheil,
  • Sylvain Leclercq,
  • Karim Boumédiene,
  • Catherine Baugé and
  • Juliette Aury-Landas

5 October 2021

The role of genetics in the development of osteoarthritis is well established but the molecular bases are not fully understood. Here, we describe a family carrying a germline mutation in COMP (Cartilage Oligomeric Matrix Protein) associated with thre...

  • Article
  • Open Access
988 Views
13 Pages

Preliminary Investigation on Resistance of Beckmannia syzigachne to Clodinafop-Propargyl and Mesosulfuron-Methyl from China

  • Licun Peng,
  • Xiangju Li,
  • Shuai Zhang,
  • Xiaotong Guo,
  • Zheng Li,
  • Jingchao Chen,
  • Shouhui Wei and
  • Hailan Cui

26 January 2025

Beckmannia syzigachne is one of the most competitive weeds in winter wheat fields in China. In this study, 120 suspected resistant populations of Beckmannia syzigachne were collected from the Anhui, Hubei, Jiangsu, and Shandong Provinces from 2017 to...

  • Article
  • Open Access
24 Citations
4,604 Views
15 Pages

Synergistic Mutations of LRP6 and WNT10A in Familial Tooth Agenesis

  • Kuan-Yu Chu,
  • Yin-Lin Wang,
  • Yu-Ren Chou,
  • Jung-Tsu Chen,
  • Yi-Ping Wang,
  • James P. Simmer,
  • Jan C.-C. Hu and
  • Shih-Kai Wang

17 November 2021

Familial tooth agenesis (FTA), distinguished by developmental failure of selected teeth, is one of the most prevalent craniofacial anomalies in humans. Mutations in genes involved in WNT/β-catenin signaling, including AXIN2 WNT10A, WNT10B, LRP6,...

  • Article
  • Open Access
35 Citations
6,729 Views
15 Pages

5 October 2017

Abstract: Both X-linked hypohidrotic ectodermal dysplasia (XLHED) and non-syndromic tooth agenesis (NSTA) result in symptoms of congenital tooth loss. This study investigated genetic causes in two families with XLHED and four families with NSTA. We s...

  • Article
  • Open Access
5 Citations
2,942 Views
17 Pages

Specific Gibberellin 2-Oxidase 3 (SbGA2ox3) Mutants Promote Yield and Stress Tolerance in Sorghum bicolor

  • Wenfeng Weng,
  • Yong Tang,
  • Ruiqi Xiong,
  • Qing Bai,
  • Anjing Gao,
  • Xin Yao,
  • Weijiao Wu,
  • Chao Ma,
  • Jianping Cheng and
  • Jingjun Ruan

18 March 2023

Sorghum (Sorghum bicolor (L.) Moench) is a raw material that can be used as food, feed, bioenergy, and wine; it is also a gramineous crop with drought, salt, waterlogging, and high temperature resistance. However, liquor-making sorghum faces the disa...

  • Article
  • Open Access
3 Citations
3,686 Views
9 Pages

Genetic Aetiology of Nonsyndromic Hearing Loss in Moravia-Silesia

  • Pavlina Plevova,
  • Petra Tvrda,
  • Martina Paprskarova,
  • Petra Turska,
  • Barbara Kantorova,
  • Eva Mrazkova and
  • Jana Zapletalova

Background and Objective: Hearing loss is the most common sensory deficit in humans. The aim of this study was to clarify the genetic aetiology of nonsyndromic hearing loss in the Moravian-Silesian population of the Czech Republic. Patients and Metho...

  • Article
  • Open Access
17 Citations
6,733 Views
10 Pages

Identification of Mutations in Antimalarial Resistance Gene Kelch13 from Plasmodium falciparum Isolates in Kano, Nigeria

  • Umar F. Abubakar,
  • Ruqayya Adam,
  • Muhammad M. Mukhtar,
  • Abdullahi Muhammad,
  • Adamu A. Yahuza and
  • Sulaiman S. Ibrahim

Malaria control relies on first-line treatments that use artemisinin-combination therapies (ACT). Unfortunately, mutations in the plasmodium falciparum kelch13 gene result in delayed parasite clearance. Research on what is causing ACT failure is non-...

  • Article
  • Open Access
4 Citations
1,824 Views
11 Pages

Genetic Diversity and Recombination Analysis of Canine Parvoviruses Prevalent in Central and Eastern China, from 2020 to 2023

  • Shunshun Pan,
  • Yuanzhuo Man,
  • Xin Xu,
  • Jun Ji,
  • Shiyuan Zhang,
  • Honghui Huang,
  • Ying Li,
  • Yingzuo Bi and
  • Lunguang Yao

Canine parvovirus type-2 (CPV-2), the primary causative agent of serious canine enteric diseases, is highly contagious and associated with high fatality rates worldwide. To comprehend the current emergence of CPV-2 in central and eastern China, 130 r...

  • Case Report
  • Open Access
2 Citations
1,968 Views
10 Pages

An Unusual Presentation of Novel Missense Variant in PAX6 Gene: NM_000280.4:c.341A>G, p.(Asn114Ser)

  • Tatyana A. Vasilyeva,
  • Natella V. Sukhanova,
  • Olga V. Khalanskaya,
  • Andrey V. Marakhonov,
  • Nikolai S. Prokhorov,
  • Vitaly V. Kadyshev,
  • Nikolay A. Skryabin,
  • Sergey I. Kutsev and
  • Rena A. Zinchenko

This study investigates a unique and complex eye phenotype characterized by minimal iris defects, foveal hypoplasia, optic nerve coloboma, and severe posterior segment damage. Through genetic analysis and bioinformatic tools, a specific nonsynonymous...

  • Article
  • Open Access
2 Citations
3,763 Views
14 Pages

Rare among Rare: Phenotypes of Uncommon CMT Genotypes

  • Luca Gentile,
  • Massimo Russo,
  • Federica Taioli,
  • Moreno Ferrarini,
  • M’Hammed Aguennouz,
  • Carmelo Rodolico,
  • Antonio Toscano,
  • Gian Maria Fabrizi and
  • Anna Mazzeo

8 December 2021

(1) Background: Charcot–Marie–Tooth disease (CMT) is the most frequent form of inherited chronic motor and sensory polyneuropathy. Over 100 CMT causative genes have been identified. Previous reports found PMP22, GJB1, MPZ, and MFN2 as the...

  • Review
  • Open Access
33 Citations
7,371 Views
26 Pages

Connexin Mutations and Hereditary Diseases

  • Yue Qiu,
  • Jianglin Zheng,
  • Sen Chen and
  • Yu Sun

Inherited diseases caused by connexin mutations are found in multiple organs and include hereditary deafness, congenital cataract, congenital heart diseases, hereditary skin diseases, and X-linked Charcot–Marie–Tooth disease (CMT1X). A la...

  • Article
  • Open Access
3 Citations
3,268 Views
21 Pages

Structural Analysis of the Effect of Asn107Ser Mutation on Alg13 Activity and Alg13-Alg14 Complex Formation and Expanding the Phenotypic Variability of ALG13-CDG

  • Karolina Mitusińska,
  • Artur Góra,
  • Anna Bogdańska,
  • Agnieszka Rożdżyńska-Świątkowska,
  • Anna Tylki-Szymańska and
  • Aleksandra Jezela-Stanek

4 March 2022

Congenital Disorders of Glycosylation (CDG) are multisystemic metabolic disorders showing highly heterogeneous clinical presentation, molecular etiology, and laboratory results. Here, we present different transferrin isoform patterns (obtained by iso...

  • Article
  • Open Access
8 Citations
9,896 Views
28 Pages

Mutation of the Highly Conserved Ser-40 of the HIV-1 p6 Gag Protein to Phe Causes the Formation of a Hydrophobic Patch, Enhances Membrane Association, and Polyubiquitination of Gag

  • Friedrich Hahn,
  • Christian Setz,
  • Melanie Friedrich,
  • Pia Rauch,
  • Sara Marie Solbak,
  • Nils Åge Frøystein,
  • Petra Henklein,
  • Jörg Votteler,
  • Torgils Fossen and
  • Ulrich Schubert

2 October 2014

The HIV-1 p6 Gag protein contains two late assembly (l-) domains that recruit proteins of the endosomal sorting complex required for transport (ESCRT) pathway to mediate membrane fission between the nascent virion and the cell membrane. It was recent...

  • Article
  • Open Access
4 Citations
3,519 Views
11 Pages

Molecular Characterization of Rifampicin-Resistant Staphylococcus aureus Isolates from Retail Foods in China

  • Jiahui Huang,
  • Feng Zhang,
  • Jumei Zhang,
  • Jingsha Dai,
  • Dongli Rong,
  • Miao Zhao,
  • Juan Wang,
  • Yu Ding,
  • Moutong Chen and
  • Liang Xue
  • + 3 authors

4 December 2021

This study investigated the molecular characteristics of rifampin-resistant (RIF-R) Staphylococcus aureus isolates recovered from 4300 retail food samples covering most provincial capitals in China, from 2011 to 2016. Of the 1463 S. aureus enrolled,...

  • Case Report
  • Open Access
2 Citations
3,999 Views
11 Pages

The Pitfall of White Blood Cell Cystine Measurement to Diagnose Juvenile Cystinosis

  • Tjessa Bondue,
  • Anas Kouraich,
  • Sante Princiero Berlingerio,
  • Koenraad Veys,
  • Sandrine Marie,
  • Khaled O. Alsaad,
  • Essam Al-Sabban,
  • Elena Levtchenko and
  • Lambertus van den Heuvel

Cystinosis is an autosomal recessive lysosomal storage disease, caused by mutations in the CTNS gene, resulting in multi-organ cystine accumulation. Three forms of cystinosis are distinguished: infantile and juvenile nephropathic cystinosis affecting...

  • Article
  • Open Access
7 Citations
5,034 Views
10 Pages

Prevalent ALMS1 Pathogenic Variants in Spanish Alström Patients

  • Brais Bea-Mascato,
  • Carlos Solarat,
  • Irene Perea-Romero,
  • Teresa Jaijo,
  • Fiona Blanco-Kelly,
  • José M. Millán,
  • Carmen Ayuso and
  • Diana Valverde

16 February 2021

Alström syndrome (ALMS) is an ultrarare disease with an estimated prevalence lower than 1 in 1,000,000. It is associated with disease-causing mutations in the Alström syndrome 1 (ALMS1) gene, which codifies for a structural protein of the basal body...

  • Article
  • Open Access
8 Citations
3,171 Views
14 Pages

Investigation of In Vitro Susceptibility and Resistance Mechanisms in Skin Pathogens: Perspectives for Fluoroquinolone Therapy in Canine Pyoderma

  • Stefano Azzariti,
  • Ross Bond,
  • Anette Loeffler,
  • Flavia Zendri,
  • Dorina Timofte,
  • Yu-Mei Chang and
  • Ludovic Pelligand

6 September 2022

Fluoroquinolones (FQ) are commonly used in dogs with bacterial skin infections. Their use as first choice, along with the increased incidence of FQ-resistance, represents a risk to animal and public health. Our study determined minimum inhibitory (MI...

  • Article
  • Open Access
1 Citations
1,708 Views
11 Pages

Expanding the Genetic and Clinical Spectrum of Hereditary Transthyretin Amyloidosis: The Glu61Ala Variant

  • Christian Messina,
  • Salvatore Gulizia,
  • Federica Scalia,
  • Eugenia Borgione,
  • Francesco Cappello,
  • Filippo Brighina and
  • Vincenzo Di Stefano

6 February 2025

Introduction. Hereditary transthyretin amyloidosis (hATTR) is a rare disorder with a largely variable worldwide prevalence, and it is caused by autosomal dominant mutations in the transthyretin (TTR) gene, leading to cardiological, neurological, or m...

  • Article
  • Open Access
4 Citations
3,905 Views
12 Pages

A Biochemical Platform to Define the Relative Specific Activity of IDUA Variants Identified by Newborn Screening

  • Seok-Ho Yu,
  • Laura Pollard,
  • Tim Wood,
  • Heather Flanagan-Steet and
  • Richard Steet

The lysosomal storage disorder, mucopolysaccharidosis I (MPSI), results from mutations in IDUA, the gene that encodes the glycosaminoglycan-degrading enzyme α-L-iduronidase. Newborn screening efforts for MPSI have greatly increased the number o...

  • Article
  • Open Access
6 Citations
5,016 Views
21 Pages

A Mutation in Mouse MT-ATP6 Gene Induces Respiration Defects and Opposed Effects on the Cell Tumorigenic Phenotype

  • Raquel Moreno-Loshuertos,
  • Nieves Movilla,
  • Joaquín Marco-Brualla,
  • Ruth Soler-Agesta,
  • Patricia Ferreira,
  • José Antonio Enríquez and
  • Patricio Fernández-Silva

As the last step of the OXPHOS system, mitochondrial ATP synthase (or complex V) is responsible for ATP production by using the generated proton gradient, but also has an impact on other important functions linked to this system. Mutations either in...

  • Article
  • Open Access
15 Citations
3,880 Views
18 Pages

Clinical Heterogeneity in Autosomal Recessive Bestrophinopathy with Biallelic Mutations in the BEST1 Gene

  • Karsten Hufendiek,
  • Katerina Hufendiek,
  • Herbert Jägle,
  • Heidi Stöhr,
  • Marius Book,
  • Georg Spital,
  • Günay Rustambayova,
  • Carsten Framme,
  • Bernhard H. F. Weber and
  • Agnes B. Renner
  • + 1 author

8 December 2020

Autosomal recessive bestrophinopathy (ARB) has been reported as clinically heterogeneous. Eighteen patients (mean age: 22.5 years; 15 unrelated families) underwent ophthalmological examination, fundus photography, fundus autofluorescence, and optical...

  • Article
  • Open Access
2 Citations
2,022 Views
16 Pages

Identification of Functional Brassinosteroid Receptor Genes in Oaks and Functional Analysis of QmBRI1

  • Wanfeng Ai,
  • Hanzhang Liu,
  • Yutao Wang,
  • Yu Wang,
  • Jun Wei,
  • Xiaolin Zhang and
  • Xiujun Lu

16 November 2023

Brassinosteroids (BRs) play important regulatory roles in plant growth and development, with functional BR receptors being crucial for BR recognition or signaling. Although functional BR receptors have been extensively studied in herbaceous plants, t...

  • Article
  • Open Access
8 Citations
3,932 Views
17 Pages

Identification of Novel Influenza Polymerase PB2 Inhibitors Using a Cascade Docking Virtual Screening Approach

  • Lei Zhao,
  • Jinjing Che,
  • Qian Zhang,
  • Yiming Li,
  • Xiaojia Guo,
  • Lixia Chen,
  • Hua Li,
  • Ruiyuan Cao and
  • Xingzhou Li

13 November 2020

To discover novel inhibitors that target the influenza polymerase basic protein 2 (PB2) cap-binding domain (CBD), commercial ChemBridge compound libraries containing 384,796 compounds were screened using a cascade docking of LibDock–LigandFit&n...

  • Article
  • Open Access
12 Citations
5,207 Views
21 Pages

Impact of LS Mutation on Pharmacokinetics of Preventive HIV Broadly Neutralizing Monoclonal Antibodies: A Cross-Protocol Analysis of 16 Clinical Trials in People without HIV

  • Bryan T. Mayer,
  • Lily Zhang,
  • Allan C. deCamp,
  • Chenchen Yu,
  • Alicia Sato,
  • Heather Angier,
  • Kelly E. Seaton,
  • Nicole Yates,
  • Julie E. Ledgerwood and
  • Kenneth Mayer
  • + 20 authors

Monoclonal antibodies are commonly engineered with an introduction of Met428Leu and Asn434Ser, known as the LS mutation, in the fragment crystallizable region to improve pharmacokinetic profiles. The LS mutation delays antibody clearance by enhancing...

  • Article
  • Open Access
9 Citations
4,399 Views
20 Pages

Recognition Dynamics of Cancer Mutations on the ERp57-Tapasin Interface

  • Monikaben Padariya,
  • Umesh Kalathiya,
  • Douglas R. Houston and
  • Javier Antonio Alfaro

20 March 2020

Down regulation of the major histocompatibility class (MHC) I pathway plays an important role in tumour development, and can be achieved by suppression of HLA expression or mutations in the MHC peptide-binding pocket. The peptide-loading complex (PLC...

  • Article
  • Open Access
5 Citations
1,408 Views
10 Pages

Knockout of OsGAPDHC7 Gene Encoding Cytosolic Glyceraldehyde-3-Phosphate Dehydrogenase Affects Energy Metabolism in Rice Seeds

  • Jin-Young Kim,
  • Ye-Ji Lee,
  • Hyo-Ju Lee,
  • Ji-Yun Go,
  • Hye-Mi Lee,
  • Jin-Shil Park,
  • Yong-Gu Cho,
  • Yu-Jin Jung and
  • Kwon-Kyoo Kang

20 November 2024

Glyceraldehyde-3-phosphate dehydrogenase (GAPDH) is a major glycolytic enzyme that plays an important role in several cellular processes, including plant hormone signaling, plant development, and transcriptional regulation. In this study, we divided...

  • Article
  • Open Access
10 Citations
4,361 Views
9 Pages

Engineering Gain-of-Function Analogues of the Spider Venom Peptide HNTX-I, A Potent Blocker of the hNaV1.7 Sodium Channel

  • Yunxiao Zhang,
  • Qiuchu Yang,
  • Qingfeng Zhang,
  • Dezheng Peng,
  • Minzhi Chen,
  • Songping Liang,
  • Xi Zhou and
  • Zhonghua Liu

4 September 2018

Pain is a medical condition that interferes with normal human life and work and reduces human well-being worldwide. Human voltage-gated sodium channel NaV1.7 (hNaV1.7) is a compelling target that plays a key role in human pain signaling. The 33-resid...

  • Article
  • Open Access
27 Citations
5,080 Views
18 Pages

In Silico Screening of Bioactive Compounds of Representative Seaweeds to Inhibit SARS-CoV-2 ACE2-Bound Omicron B.1.1.529 Spike Protein Trimer

  • Muruganantham Bharathi,
  • Bhagavathi Sundaram Sivamaruthi,
  • Periyanaina Kesika,
  • Subramanian Thangaleela and
  • Chaiyavat Chaiyasut

17 February 2022

Omicron is an emerging SARS-CoV-2 variant, evolved from the Indian delta variant B.1.617.2, which is currently infecting worldwide. The spike glycoprotein, an important molecule in the pathogenesis and transmissions of SARS-CoV-2 variants, especially...

  • Article
  • Open Access
1,365 Views
15 Pages

Benchmarking Nanopore Sequencing for CLN2 (TPP1) Mutation Detection: Integrating Rapid Genomics and Orthogonal Validation for Precision Diagnostics

  • Betül Teker,
  • Gökce Akan,
  • Hasan Hüseyin Kazan,
  • Özge Özgen,
  • Suzin Tatonyan,
  • Mehmet Cihan Balci,
  • Meryem Karaca,
  • Fulya Kurekci,
  • Edibe Pembegül Yıldız and
  • Olcay Güngor
  • + 5 authors

CLN2 disease (neuronal ceroid lipofuscinosis type 2) is an ultra-rare lysosomal storage disorder caused by mutations in the TPP1/CLN2 gene, resulting in impaired tripeptidyl peptidase 1 (TPP1) activity. The timely initiation of enzyme replacement the...

  • Article
  • Open Access
9 Citations
4,829 Views
18 Pages

6 June 2021

To date, there is a dearth of information on canine parvovirus-2 (CPV-2) from the Caribbean region. During August–October 2020, the veterinary clinic on the Caribbean island of Nevis reported 64 household dogs with CPV-2-like clinical signs (hemorrha...

  • Article
  • Open Access
1,459 Views
18 Pages

Uncovering a Novel Pathogenic Mechanism of BCS1L in Mitochondrial Disorders: Insights from Functional Studies on the c.38A>G Variant

  • Valeria Capaci,
  • Luisa Zupin,
  • Martina Magistrati,
  • Maria Teresa Bonati,
  • Fulvio Celsi,
  • Irene Marrone,
  • Francesco Baldo,
  • Blendi Ura,
  • Beatrice Spedicati and
  • Anna Morgan
  • + 5 authors

The BCS1L gene encodes a mitochondrial chaperone which inserts the Fe2S2 iron–sulfur Rieske protein into the nascent electron transfer complex III. Variants in the BCS1L gene are associated with a spectrum of mitochondrial disorders, ranging fr...

  • Article
  • Open Access
34 Citations
4,894 Views
12 Pages

Molecular Epidemiological Survey of Canine Parvovirus Circulating in China from 2014 to 2019

  • Bixia Chen,
  • Xiaohui Zhang,
  • Jie Zhu,
  • Lijing Liao and
  • Endong Bao

The global distribution of canine parvovirus (CPV-2) derived from a closely related carnivore parvovirus poses a considerable threat to the dog population. The virus is continuously undergoing genetic evolution, giving rise to several variants. To in...

  • Article
  • Open Access
19 Citations
4,487 Views
21 Pages

Molecular Insights into the Role of Pathogenic nsSNPs in GRIN2B Gene Provoking Neurodevelopmental Disorders

  • Abid Ali Shah,
  • Marryam Amjad,
  • Jawad-Ul Hassan,
  • Asmat Ullah,
  • Arif Mahmood,
  • Huiyin Deng,
  • Yasir Ali,
  • Fouzia Gul and
  • Kun Xia

26 July 2022

The GluN2B subunit of N-methyl-D-aspartate receptors plays an important role in the physiology of different neurodevelopmental diseases. Genetic variations in the GluN2B coding gene (GRIN2B) have consistently been linked to West syndrome, intellectua...

  • Communication
  • Open Access
1 Citations
1,721 Views
9 Pages

Internal Overview of Prostatic Cancer Cases and Quality of BRCA1 and BRCA2 NGS Data from the FFPE Tissue

  • Enrica Antolini,
  • Alessandra Filosa,
  • Matteo Santoni,
  • Elena Antaldi,
  • Elisa Bartoli,
  • Lidia Sierchio,
  • Federica Giantomassi,
  • Alessandra Mandolesi and
  • Gaia Goteri

18 September 2024

Background: Comprehensive genomic profiling (CGP) has gained an important role in patients with advanced prostate cancer following the introduction of PARP inhibitors in daily clinical practice. Here, we report an overview of CGP results, specificall...

of 2