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original-paper | 03-September-2019

Evaluation of the pol/S Gene Overlapping Mutations in Chronic Hepatitis B Patients in Northern Cyprus

countries for the treatment of chronic HBV, however, there is a big concern of long term use of these agents as they are associated with the development of antiviral resistance mutations (Sun et al. 2016; Ozguler and Sayan 2016; Zhao et al. 2016; Ozguler and Sayan 2018). These mutations are associated with the amino acid substitutions in the reverse transcriptase (RT) domain and are classified as primary or secondary compensatory resistance mutations (Rugieri Pacheco et al. 2017). Mutations at the amino


Polish Journal of Microbiology, Volume 68 , ISSUE 3, 317–322

Original Paper | 10-June-2013

Detection of SCN1A mutations in patients with severe myoclonic epilepsy in infancy by custom resequence array

genetic diagnosis of epilepsies in which 14 epilepsy – related genes (SCN1A, SCN1B, CHRNA4, CHRNA7, CHRNB2, GABRA1, GABRD, GABRG2, CACNB4, CLCN2, KCNQ2, KCNQ3, CACNA1A, and CACNA1H) have been mounted. Aim. The aim of the present study is to evaluate the performance of our custom array in detecting the SCN1A mutations in patients with severe myoclonic epilepsy in infancy. Material and methods. We compared mutation data generated by DNA array sequencing of DNA samples from patients with severe

Takayuki Sugawara, Shuichi Yoshida, Naoko Onodera, Kazumaru Wada, Shinichi Hirose, Sunao Kaneko

Journal of Epileptology, Volume 21 , ISSUE 1, 5–13

case-report | 25-November-2020

Pharmacoresistant epilepsy associated with mutations in the KCNB1 and RELN genes. A case report

), (Figure 2) and the second one, c.6770C> G, p. (Ser-2257Trp) in the RELN gene, in heterozygous state (NM_005045.3) (Figure 3). Figure 2. Molecular testing with Next Generation Sequencing technique revealed mutations at KCNB1 gene. Figure 3. Molecular testing with Next Generation Sequencing technique revealed mutations a tRELN gene. Nucleotide change c.1234A> G to KCNB1 gene leads to replacement of the amino acid isoleucine by valine at 412 position of amino acid chain and the c.6770C> G change in

Adamantios Katerelos, Nikolaos Zagkos, Dimitra Alexopoulou, Stella Mouskou, Anastasia Korona, Emmanouil Manolakos

Journal of Epileptology, Volume 28 , 73–77

Article | 18-October-2020

Fyx is associated with two missense point mutations in its gene and can be detected by PCR–SSP

;) samples of Tanzanian origin were correctly typed and of 300 random donors of Caucasian origin with known Fy phenotype, only four out of 59 Fy(a+b–) donors showed the discrepant DNA-type Fy(a+b+). Serologic reinvestigation by adsorption and elution techniques confirmed weakly expressed Fyb antigen in these cases and DNA sequencing of the entire Duffy gene revealed identical point mutations in all of them. Specific PCR reactions were used to reinvestigate the C265T (Arg89Cys) and G298A (Ala100Thr

Christoph Gassner, Richard L. Kraus, Tadeja Dovc, Susanne Kilga-Nogler, Irene Utz, Thomas Mueller, Friedrich Schunter, Diether Schoenitzer

Immunohematology, Volume 16 , ISSUE 2, 61–67

original-paper | 22-October-2019

Molecular Epidemiology of Hepatitis B Virus in Turkish Cypriot

) are observed, and HBV is characterized by a significant degree of genetic heterogeneity (Kostaki et al. 2018). The HBV genome encloses four partially overlapping open reading frames, which are PreS1/S2/S, PreC/C, P, and X encoding seven different proteins. Most significantly, Reverse Transcriptase (RT) and HBsAg frames overlap at RT amino acid 8–236, with HBsAg frameshift downstream by one nucleotide. Therefore, it indicates that mutations in these specific areas might result in drug resistance


Polish Journal of Microbiology, Volume 68 , ISSUE 4, 449–456

mini-review | 16-October-2021

Silent Genes: Antimicrobial Resistance and Antibiotic Production

et al. (2012) claimed that silent antimicrobial resistance genes could be a real threat, and strains harboring these genes, for example, metallo-beta-lactamase (MBL) producing Pseudomonas aeruginosa susceptible to meropenem, can carry the risk of therapeutic mistakes and failure. Several mechanisms associated with the lack of gene expression have been identified. In general, genes are silent because of three main reasons: (1) mutations, (2) adverse side effects of normal gene regulation


Polish Journal of Microbiology, Volume 70 , ISSUE 4, 421–429

Report | 01-December-2019

A novel JK null allele associated with typing discrepancies among African Americans

The Jknull (Jk-3) phenotype, attributable to null or silenced alleles, has predominantly been found in persons of Polynesian descent. With the increased use of molecular genotyping, many new silencing mutations have been identified in persons of other ethnic backgrounds. To date, only two JK null alleles have been reported in African Americans, JK*01N.04 and JK*01N.05. A comparative study was undertaken to determine whether JK mutations were present in the regional African American population

Katrina L. Billingsley, Jeff B. Posadas, Joann M. Moulds, Lakshmi K. Gaur

Immunohematology, Volume 29 , ISSUE 4, 145–148

original-paper | 20-December-2021

Identification of Genetic Variants of Human Papillomavirus in a Group of Mexican HIV/AIDS Patients and Their Possible Association with Cervical Cancer

reports of crystallized structures in the L1 region of different HPV types such as 16 and 18, but they had not been reported for HPV51. The L1 monomer of HPV51 was used to check whether the mutations found in patient samples in the present study corresponded to previously reported mutations (Bishop et al. 2007) in HPV16. The results showed that the mutations found in the present work did not correspond to previously reported mutations. Fig. 5 shows the I21L, E26R, I52L, V71G, and F72I mutations. Fig


Polish Journal of Microbiology, Volume 70 , ISSUE 4, 501–509

Research Article | 23-May-2019


. Mutations in chromosomal genes encoding gyrase and topoisomerase IV are the most common mechanisms responsible for high-level fluoroquinolone resistance. Mutations can occur also in regulatory genes which control the expression of native efflux pumps located in bacterial membrane. Furthermore, three mechanisms of plasmid-mediated quinolone resistance (PMQR) have been discovered so far, including Qnr proteins, the aminoglycoside acetylotransferase variant – AAC(6’)-Ib-cr, and plasmid-mediated

Katarzyna Piekarska

Postępy Mikrobiologii - Advancements of Microbiology, Volume 57 , ISSUE 1, 47–57

Review | 18-May-2018

A role for the GDAP1 gene in the molecular pathogenesis of Charcot-Marie-Tooth disease

In 2002 a series of mutations in the GDAP1 gene were reported in patients suffering from Charcot-Marie-Tooth disease manifesting as early–onset, progressive distal-muscle wasting and weakness. The molecular etiology of Charcot-Marie-Tooth -GDAP1 disease has been elucidated but its pathogenesis remains unclear, especially given the seemingly contradictory function of the GDAP1 protein. Expression of GDAP1 is observed almost exclusively in neuronal cells, however, the GDAP1 protein is present in

Weronika Rzepnikowska, Andrzej Kochański

Acta Neurobiologiae Experimentalis, Volume 78 , ISSUE 1, 1–13

Review | 20-March-2020


phenotype arises from homozygosity for inactivating mutations in the LU gene. The dominantly inherited Lumod phenotype, In(Lu), results from heterozygosity for inactivating mutations in KLF1, the gene for the erythroid transcription binding factor EKLF. Clinically, antibodies of the Lutheran system are relatively benign. When hemolytic, they generally cause only mild, delayed hemolytic transfusion reactions or hemolytic disease of the fetus and newborn that can be treated by phototherapy. The Lutheran

Geoff Daniels

Immunohematology, Volume 25 , ISSUE 4, 152–159

Article | 15-February-2021

An update on the Lutheran blood group system

LU27 LUYA c.1184G>A 9 p.Arg395His 4 7 *LU22 expression requires the presence of both Arg77 (Lub) and Arg75 on the same molecule. IgSF = immunoglobulin superfamily. Lumod Since the discovery that the Lumod In(Lu) phenotype resulted from heterozygosity for mutations in the KLF1 gene, many more mutations responsible for that phenotype have been identified and are listed in Daniels,8 Singleton et al.,9 and Fraser et al.10 Flow cytometric analyses revealed reduced expression of OK (CD147) and

G. Daniels

Immunohematology, Volume 35 , ISSUE 1, 23–24

Review | 01-December-2019

Cartwright blood group system review

The Cartwright (Yt) blood group system consists of two antigens, Yta and Ytb, that result from point mutations in the acetylcholinesterase gene on chromosome 7q. Yta is a highincidence antigen, whereas its antithetical antigen, Ytb, shows much lower incidence. Anti-Yta and anti-Ytb are relatively rare. Anti-Yta is more commonly found in individuals of Jewish descent. Cartwright antibodies are rarely clinically significant; however, cases of in vivo hemolysis have been reported, suggesting that

Melissa R. George

Immunohematology, Volume 28 , ISSUE 2, 49–54

Review | 18-May-2018

MeCP2 in central nervous system glial cells: current updates

Methyl-CpG binding protein 2 (MeCP2) is an epigenetic regulator, which preferentially binds to methylated CpG dinucleotides in DNA. MeCP2 mutations have been linked to Rett syndrome, a neurodevelopmental disorder characterized by severe intellectual disability in females. Earlier studies indicated that loss of MeCP2 function in neuronal cells was the sole cause of Rett syndrome. Subsequent studies have linked MeCP2 expression in CNS glial cells to Rett syndrome pathogenesis. In this review, we

Kedarlal Sharma, Juhi Singh, Emma E. Frost, Prakash P. Pillai

Acta Neurobiologiae Experimentalis, Volume 78 , ISSUE 1, 30–40

Review | 01-December-2019

An update on the GLOB blood group system and collection

outcomes of pregnancy. The molecular genetic basis of globoside deficiency is absence of functional P synthase as a result of mutations at the B3GALNT1 locus. Other related glycolipid structures, the LKE and PX2 antigens, remain in the GLOB blood group collection pending further evidence about the genes and gene products responsible for their synthesis.

Åsa Hellberg, Julia S. Westman, Martin L. Olsson

Immunohematology, Volume 29 , ISSUE 1, 19–24

Research Article | 01-September-2017


Protein sequence alignment to find correlation between different species, or genetic mutations etc. is the most computational intensive task when performing protein comparison. To speed-up the alignment, Systolic Arrays (SAs) have been used. In order to avoid the internal-loop problem which reduces the performance, pipeline interleaving strategy has been presented. This strategy is applied to an SA for Smith Waterman (SW) algorithm which is an alignment algorithm to locally align two proteins

M.Anto Bennet, S. Sankaranarayanan, M. Deepika, N. Nanthini, S. Bhuvaneshwari, M. Priyanka

International Journal on Smart Sensing and Intelligent Systems, Volume 10 , ISSUE 5, 101–122

Review | 06-August-2019


Vincenzo BAGNOLO, Andrea MANCA

Architecture, Civil Engineering, Environment, Volume 12 , ISSUE 2, 7–16

Article | 16-February-2021

An update on the I blood group system

discussing GCNT2 structure and transcription (for example, exon E1A is exon 3).2–4 GCNT2 Mutations Several new mutant GCNT2 alleles have been identified, including two new missense mutations: one in E2 (G312D) and the other in E3 (Y349C) associated with congenital cataracts (Table 1).1–3,5–7 In China, GCNT2 mutations have been identified in 4–6 percent of children with cataracts.8 Three previously identified iadult alleles have been reclassified as Iweak (Table 1).9 Table 1. GCNT2 mutations associated

L. Cooling

Immunohematology, Volume 35 , ISSUE 3, 85–90

Article | 16-February-2021

An update on the Cartwright (Yt) blood group system

M.R. George

Immunohematology, Volume 35 , ISSUE 4, 154–155

Report | 11-March-2020

The Indian blood group system

glycoprotein that is encoded by the CD44 gene on chromosome 11 at position p13. The biologic function of CD44 is as a leukocyte homing receptor and cellular adhesion molecule. The Ina and Inb polymorphism represents a 252G>C substitution of CD44, encoding R46P, and lack of IN3 and IN4 results from homozygosity for mutations encoding H85Q and T163R in the CD44 gene. The high-frequency antigen AnWj (901009) has not been assigned to the Indian system, but either is located on an isoform of CD44 or is

Qun Xu

Immunohematology, Volume 27 , ISSUE 3, 89–93

Article | 14-October-2020

DNA analysis for donor screening of Dombrock blood group antigens

Due to the scarcity of reliable antibodies, RBC typing for Doa and Dob is notoriously difficult. Inaccurate typing can place patients at risk for hemolytic transfusion reactions. The molecular basis of the DOA/DOB polymorphism is associated with three nucleotide changes:378 C>T,624 T>C, and 793 A>G of DO. While the 378 C>T and 624 T>C are silent mutations, the 793A>G polymorphism in codon 265 encodes asparagine for Doa and aspartic acid for Dob . We describe here the use of a

Jill R. Storry, Connie M. Westhoff, Dalisay Charles-Pierre, Maria Rios, Kim Hue-Roye, Sunitha Vege, Sandra Nance, Marion E. Reid

Immunohematology, Volume 19 , ISSUE 3, 73–76

Review | 26-October-2019

Kell and Kx blood group systems

The Kell and Kx blood group systems are expressed as covalently linked molecules on red blood cells (RBCs). The Kell blood group system is very polymorphic, with 35 antigens assigned to the system. The expression of Kell glycoprotein on RBCs is not critical to the erythrocyte function. However, the expression of Kx is critical to normal morphology, and null mutations are associated with the McLeod neuroacanthocytosis syndrome. The immunogenicity of the K antigen is second only to the D antigen

Gregory A. Denomme

Immunohematology, Volume 31 , ISSUE 1, 14–19

research-article | 30-November-2018

Active and inactive forms of biotin synthase occur in Heterodera glycines

Khee Man Kwon, Sadia Bekal, Leslie L. Domier, Kris N. Lambert

Journal of Nematology, Volume 51 , 1–12

Review | 16-October-2019

An update on the GLOB blood group system (and former GLOB collection)

from the GLOB collection to the GLOB system. The presence of naturallyoccurring anti-PX2 was noted in P1k and P2k individuals exhibiting nonfunctional P synthase. Although the clinical significance of this specificity remains unclear, a recommendation to avoid transfusing Pk patients with p phenotype blood has been made. Currently, 13 mutations at the highly conserved B3GALNT1 locus have been found to abolish P synthase function and are recognized as null alleles by the International Society of

Jennifer Ricci Hagman, Julia S. Westman, Åsa Hellberg, Martin L. Olsson

Immunohematology, Volume 34 , ISSUE 4, 161–163

Research paper | 10-October-2018

Effects of PINK1 mutation on synapses and behavior in the brain of Drosophila melanogaster

Mutations in the PINK1 gene are responsible for typical symptoms of Parkinson’s disease. Using Drosophila melanogaster mutant PINK1B9 and after PINK1 silencing with RNAi using transgenic lines, we observed defects in synapses and behavior. The lack or reduced expression of PINK1 prolonged sleep during the day (nap) and decreased the total locomotor activity during 24 h, in addition to a decrease in climbing ability and a reduced lifespan. In the brain, PINK1 mutants had a lower level of

Bartosz Doktór, Milena Damulewicz, Wojciech Krzeptowski, Barbara Bednarczyk, Elżbieta Pyza

Acta Neurobiologiae Experimentalis, Volume 78 , ISSUE 3, 231–241

Report | 20-March-2020

A simple screening assay for the most common JK*0 alleles revealed compound heterozygosity in Jk(a–b–) probands from Guam

screening assay was cost-efficient when compared with DNA sequencing costs. Furthermore, selection of the more common JK*0 mutations was a practical approach that resulted in rapid identification of the genetic bases behind the Jk(a–b–) phenotypes in this unusual family. Although an obvious target for eventual inclusion into high-throughput genotyping platforms for clinical diagnostic services, current systems are very limited. Our approach provides a simple and inexpensive method for the

Elisabet Sjöberg Wester, Julia Gustafsson, Beverly Snell, Peggy Spruell, Åsa Hellberg, Martin L. Olsson, Jill R. Storry

Immunohematology, Volume 25 , ISSUE 4, 165–169

Case report | 08-August-2017

Clinical report: a rare co-occurrence of tuberous sclerosis complex and Rett syndrome in a girl with mental retardation, epilepsy and autism

were unexplained until at age of 4.5 years RS was diagnosed by finding a heterozygous missense mutation in exon 4 of the MECP2 gene c.455C>T, resulting in a P152R substitution in the methyl-binding domain of the protein. At age of 5 the patient is not able to walk independently and has no expressive speech, she is autistic, has ataxia, limb rigidity, hyperreflexia, lack of purposeful hand movements, verbal and motor stereotypies. Discussion. The presence of two mutations (one characteristic for

Elena Belousova, Vladimir Sukhorukov, Marina Dorofeeva, Lev Shagam, Dmitrii V. Vlodavetz

Journal of Epileptology, Volume 25 , ISSUE 1-2, 47–51

Article | 30-November-2018


Marian Binek, Magdalena Kizerwetter-Świda, Magdalena Rzewuska, Dorota Chrobak-Chmiel, Agnieszka Sałamaszyńska-Guz

Postępy Mikrobiologii - Advancements of Microbiology, Volume 58 , ISSUE 3, 259–270

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