Displaying publications 61 - 80 of 581 in total

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  1. Kalle Kwaifa I, Lai MI, Md Noor S
    Orphanet J Rare Dis, 2020 06 29;15(1):166.
    PMID: 32600445 DOI: 10.1186/s13023-020-01429-1
    BACKGROUND: Defective synthesis of the α-globin chain due to mutations in the alpha-globin genes and/or its regulatory elements leads to alpha thalassaemia syndrome. Complete deletion of the 4 alpha-globin genes results in the most severe phenotype known as haemoglobin Bart's, which leads to intrauterine death. The presence of one functional alpha gene is associated with haemoglobin H disease, characterised by non-transfusion-dependent thalassaemia phenotype, while silent and carrier traits are mostly asymptomatic.

    MAIN BODY: Clinical manifestations of non-deletional in alpha thalassaemia are varied and have more severe phenotype compared to deletional forms of alpha thalassaemia. Literature for the molecular mechanisms of common non-deletional alpha thalassaemia including therapeutic measures that are necessarily needed for the understanding of these disorders is still in demand. This manuscript would contribute to the better knowledge of how defective production of the α-globin chains due to mutations on the alpha-globin genes and/or the regulatory elements leads to alpha thalassaemia syndrome.

    CONCLUSION: Since many molecular markers are associated with the globin gene expression and switching over during the developmental stages, there is a need for increased awareness, new-born and prenatal screening program, especially for countries with high migration impact, and for improving the monitoring of patients with α-thalassaemia.

    Matched MeSH terms: Phenotype
  2. Rodde C, Vandeputte M, Trinh TQ, Douchet V, Canonne M, Benzie JAH, et al.
    Front Genet, 2020;11:596521.
    PMID: 33519898 DOI: 10.3389/fgene.2020.596521
    Accurately measuring the phenotype at the individual level is critical to the success of selective breeding programs. Feed efficiency is a key sustainability trait and is typically approached through feed conversion ratio (FCR). This requires measurements of body weight gain (BWG) and feed intake (FI), the latter being technically challenging in fish. We assessed two of the principal methods for measuring feed intake in fish over consecutive days: (1) group rearing 10 fish per group and video recording the meals and (2) rearing fish individually on a restricted ration. Juvenile Nile tilapia (Oreochromis niloticus) from the Genetically Improved Farmed Tilapia (GIFT) strain and the Cirad strain were entered into the study (128 GIFT and 109 Cirad). The GIFT strain were reared over three consecutive periods of 7 days each under different feeding, recording, and rearing scenarios (i) in groups fed an optimal ration (g100) or (ii) fed a 50% restricted ration (g50) both with video records of all meals and (iii) reared in isolation and fed a 50% restrictive ration. The Cirad strain were tested similarly but only for scenarios (i) and (iii). All fish were fed twice daily with a calculated ration. Correlations showed the same trends for the GIFT and the Cirad strains. For the GIFT strain, correlations were positive and significant for BWG and FI measured in scenarios (i) and (ii), 0.49 and 0.63, respectively, and FI measured in scenarios (i) and (iii) (0.50) but not for BWG measured in scenarios (i) and (iii) (0.29, NS). The phenotypic correlation estimated for FCR between scenarios (i) and (ii) with fish fed an optimal or a 50% restricted ration was low and not significant (0.22). Feed Conversion Ratio for GIFT fish reared in groups or in isolation and fed with a restricted ration [scenarios (ii) and (iii)] were not significantly correlated either. Social interactions between fish, potentially impacting their efficiency, may explain the results. Therefore, selective breeding programs seeking to improve feed efficiency will need to carefully plan the feeding rate and the rearing system used to estimate FCR in order to optimize selection for the targeted production system.
    Matched MeSH terms: Phenotype
  3. Azizi A, Sthaneshwar P, Shanmugam H, Arumugam S
    Pathology, 2015 Aug;47(5):495-7.
    PMID: 26126045 DOI: 10.1097/PAT.0000000000000286
    Matched MeSH terms: Phenotype
  4. Nawawi HM, Chua YA, Watts GF
    Curr Opin Cardiol, 2020 05;35(3):226-233.
    PMID: 32097179 DOI: 10.1097/HCO.0000000000000721
    PURPOSE OF REVIEW: With the exception of familial hypercholesterolaemia, the value of genetic testing for managing dyslipidaemias is not established. We review the genetics of major dyslipidaemias in context of clinical practice.

    RECENT FINDINGS: Genetic testing for familial hypercholesterolaemia is valuable to enhance diagnostic precision, cascade testing, risk prediction and the use of new medications. Hypertriglyceridaemia may be caused by rare recessive monogenic, or by polygenic, gene variants; genetic testing may be useful in the former, for which antisense therapy targeting apoC-III has been approved. Familial high-density lipoprotein deficiency is caused by specific genetic mutations, but there is no effective therapy. Familial combined hyperlipidaemia (FCHL) is caused by polygenic variants for which there is no specific gene testing panel. Familial dysbetalipoproteinaemia is less frequent and commonly caused by APOE ε2ε2 homozygosity; as with FCHL, it is responsive to lifestyle modifications and statins or/and fibrates. Elevated lipoprotein(a) is a quantitative genetic trait whose value in risk prediction over-rides genetic testing; treatment relies on RNA therapeutics.

    SUMMARY: Genetic testing is not at present commonly available for managing dyslipidaemias. Rapidly advancing technology may presage wider use, but its worth will require demonstration of cost-effectiveness and a healthcare workforce trained in genomic medicine.

    Matched MeSH terms: Phenotype
  5. Catolos M, Sandhu N, Dixit S, Shamsudin NAA, Naredo MEB, McNally KL, et al.
    Front Plant Sci, 2017;8:1763.
    PMID: 29085383 DOI: 10.3389/fpls.2017.01763
    Drought is the major abiotic stress to rice grain yield under unpredictable changing climatic scenarios. The widely grown, high yielding but drought susceptible rice varieties need to be improved by unraveling the genomic regions controlling traits enhancing drought tolerance. The present study was conducted with the aim to identify quantitative trait loci (QTLs) for grain yield and root development traits under irrigated non-stress and reproductive-stage drought stress in both lowland and upland situations. A mapping population consisting of 480 lines derived from a cross between Dular (drought-tolerant) and IR64-21 (drought susceptible) was used. QTL analysis revealed three major consistent-effect QTLs for grain yield (qDTY1.1, qDTY1.3 , and qDTY8.1 ) under non-stress and reproductive-stage drought stress conditions, and 2 QTLs for root traits (qRT9.1 for root-growth angle and qRT5.1 for multiple root traits, i.e., seedling-stage root length, root dry weight and crown root number). The genetic locus qDTY1.1 was identified as hotspot for grain yield and yield-related agronomic and root traits. The study identified significant positive correlations among numbers of crown roots and mesocotyl length at the seedling stage and root length and root dry weight at depth at later stages with grain yield and yield-related traits. Under reproductive stage drought stress, the grain yield advantage of the lines with QTLs ranged from 24.1 to 108.9% under upland and 3.0-22.7% under lowland conditions over the lines without QTLs. The lines with QTL combinations qDTY1.3 +qDTY8.1 showed the highest mean grain yield advantage followed by lines having qDTY1.1 +qDTY8.1 and qDTY1.1 +qDTY8.1 +qDTY1.3 , across upland/lowland reproductive-stage drought stress. The identified QTLs for root traits, mesocotyl length, grain yield and yield-related traits can be immediately deployed in marker-assisted breeding to develop drought tolerant high yielding rice varieties.
    Matched MeSH terms: Phenotype
  6. Lau WC, Rafii MY, Ismail MR, Puteh A, Latif MA, Ramli A
    Front Plant Sci, 2015;6:832.
    PMID: 26528304 DOI: 10.3389/fpls.2015.00832
    After yield, quality is one of the most important aspects of rice breeding. Preference for rice quality varies among cultures and regions; therefore, rice breeders have to tailor the quality according to the preferences of local consumers. Rice quality assessment requires routine chemical analysis procedures. The advancement of molecular marker technology has revolutionized the strategy in breeding programs. The availability of rice genome sequences and the use of forward and reverse genetics approaches facilitate gene discovery and the deciphering of gene functions. A well-characterized gene is the basis for the development of functional markers, which play an important role in plant genotyping and, in particular, marker-assisted breeding. In addition, functional markers offer advantages that counteract the limitations of random DNA markers. Some functional markers have been applied in marker-assisted breeding programs and have successfully improved rice quality to meet local consumers' preferences. Although functional markers offer a plethora of advantages over random genetic markers, the development and application of functional markers should be conducted with care. The decreasing cost of sequencing will enable more functional markers for rice quality improvement to be developed, and application of these markers in rice quality breeding programs is highly anticipated.
    Matched MeSH terms: Phenotype
  7. Jiang DL, Gu XH, Li BJ, Zhu ZX, Qin H, Meng ZN, et al.
    Mar Biotechnol (NY), 2019 Apr;21(2):250-261.
    PMID: 30737627 DOI: 10.1007/s10126-019-09877-y
    Understanding the genetic mechanism of osmoregulation is important for the improvement of salt tolerance in tilapia. In our previous study, we have identified a major quantitative trait locus (QTL) region located at 23.0 Mb of chrLG18 in a Nile tilapia line by QTL-seq. However, the conservation of these QTLs in other tilapia populations or species is not clear. In this study, we successfully investigated the QTLs associated with salt tolerance in a mass cross population from the GIFT line of Nile tilapia (Oreochromis niloticus) using a ddRAD-seq-based genome-wide association study (GWAS) and in a full-sib family from the Malaysia red tilapia strain (Oreochromis spp) using QTL-seq. Our study confirmed the major QTL interval that is located at nearly 23.0 Mb of chrLG18 in Nile tilapia and revealed a long QTL cluster across chrLG18 controlling for the salt-tolerant trait in both red tilapia and Nile tilapia. This is the first GWAS analysis on salt tolerance in tilapia. Our finding provides important insights into the genetic architecture of salinity tolerance in tilapia and supplies a basis for fine mapping QTLs, marker-assisted selection, and further detailed functional analysis of the underlying genes for salt tolerance in tilapia.
    Matched MeSH terms: Phenotype
  8. Fadzly N, Burns KC, Zuharah WF
    Trop Life Sci Res, 2013 Dec;24(2):31-50.
    PMID: 24575247 MyJurnal
    Fruit phenotypes are often hypothesised to be affected by selection by frugivores. Here, we tested two hypotheses concerning frugivore-fruit interactions from the perspective of fruit colours. We measured the spectral properties of 26 fruits and the associated leaves of plants from 2 islands in New Zealand. Visual observations were also performed to record the birds that fed on the fruits. First, we tested the fruit-foliage hypothesis, where fruit colours are assumed to be evolutionarily constrained by their own leaf colour to maximise colour contrast and fruit conspicuousness. We ran a null model analysis comparing fruit colour contrast using an avian eye model. Second, we tested the frugivore specificity hypothesis, where specific fruit colours are thought to be connected with a specific bird frugivore. We performed a regression on the number of bird visits against the fruit colour in tetrahedral colour space based on an avian eye calculation using Mantel's test. The results show that fruit colours are not constrained by their own leaf colours. There is also no relationship or pattern suggesting a link between a specific fruit colour and specific bird visitors. We suggest that although fruit colour is one of the most highly discussed components, it is not the most important single deciding factor in frugivore fruit selection.
    Matched MeSH terms: Phenotype
  9. Muniandy, Kalaivani, Sankar, Prabu Siva, Lian, Benedict Shi Xiang, Khoo, Alan Soo-Beng, Balakrishnan, Venugopal, Mohana-Kumaran, Nethia
    Trop Life Sci Res, 2016;27(11):125-130.
    MyJurnal
    Spheroids have been shown to recapitulate the tumour in vivo with properties
    such as the tumour microenvironment, concentration gradients, and tumour phenotype. As
    such, it can serve as a platform for determining the growth and invasion behaviour pattern
    of the cancer cells as well as be utilised for drug sensitivity assays; capable of exhibiting
    results that are closer to what is observed in vivo compared to two-dimensional (2D) cell
    culture assays. This study focused on establishing a three-dimensional (3D) cell culture
    model using the Nasopharyngeal Carcinoma (NPC) cell line, HK1 and analysing its growth
    and invasion phenotypes. The spheroids will also serve as a model to elucidate their
    sensitivity to the chemotherapeutic drug, Flavopiridol. The liquid overlay method was
    employed to generate the spheroids which was embedded in bovine collagen I matrix for
    growth and invasion phenotypes observation. The HK1 cells formed compact spheroids
    within 72 hours. Our observation from the 3 days experiments revealed that the spheroids
    gradually grew and invaded into the collagen matrix, showing that the HK1 spheroids are
    capable of growth and invasion. Progressing from these experiments, the HK1 spheroids
    were employed to perform a drug sensitivity assay using the chemotherapeutic drug,
    Flavopiridol. The drug had a dose-dependent inhibition on spheroid growth and invasion.
    Matched MeSH terms: Phenotype
  10. Yusuf SNA, Rahman AMA, Zakaria Z, Subbiah VK, Masnan MJ, Wahab Z
    Trop Life Sci Res, 2020 Jul;31(2):107-143.
    PMID: 32922671 DOI: 10.21315/tlsr2020.31.2.6
    Harumanis is one of the main signatures of Perlis with regards to its delightful taste, pleasant aroma and expensive price. Harumanis authenticity and productivity had become the remarks among the farmers, entrepreneurs, consumers and plant breeders due to the existence of morphological characteristics variation among the fruits and high production cost. Assessment of Harumanis morphological characteristics of natural population and different tree ages may represent a possible source of important characteristics for development and breeding purposes of Harumanis. The aim of this study is to evaluate the morphological variation of Harumanis collected from different location in Perlis and tree age. A total of 150 Harumanis fruits from 50 trees with three different stages of development (young, middle-aged and old) were characterised using 11 traits; 10 quantitative and one qualitative morphological trait. The ANOVA analyses in combination with Dunn's pairwise and Kruskal-Wallis multiple comparison test able to point out the existence of environmental factor and age influence towards the significant different of identified morphological traits except for Total Soluble Solid (TSS) and pulp percentage. Five clusters of 50 Harumanis accessions reflect a grouping pattern which not according to neither geographical region nor age. The result of Principal Component Analysis (PCA) using the first two principal components (PCs) provided a good approximation of the data explaining 84.09% of the total variance which majorly contributed by parameters of weight, fruit dimensional characteristics, peel percentage and hue angle, h. Preliminary screening of important morphological characteristics which contribute to the phenotypic diversity of Harumanis is successfully achieved. The findings can be employed by the plant breeders and farmers for the establishment of standard grading of Harumanis and advancement of breeding crop of Harumanis in future.
    Matched MeSH terms: Phenotype
  11. Laffan M, Sathar J, Johnsen JM
    Haemophilia, 2021 Feb;27 Suppl 3:66-74.
    PMID: 32578345 DOI: 10.1111/hae.14050
    von Willebrand disease (VWD) is the most common inherited bleeding disorder. VWD is caused by deficiencies in von Willebrand factor (VWF), a critical adhesive haemostatic protein. This review provides an overview of VWD diagnosis and treatment, special considerations in treating women with VWD, and current genomic approaches to VWD. For diagnosis and treatment in VWD, an accurate diagnosis is critical to providing effective treatments, determining appropriate laboratory monitoring and for counselling the patient and family. Diagnosis of VWD begins with the clinical assessment for the bleeding phenotype, which is usually characterized by mucocutaneous and provoked bleeding. The diagnosis of VWD is then made by laboratory investigation. Multiple assays are used to assess VWF levels and functions. The mainstays of VWD treatment are tailored by VWD type and symptoms, and can include antifibrinolytic treatment, desmopressin and VWF replacement treatment. Women with VWD are also at risk for excessive uterine bleeding, such as with menses and childbirth. In addition to standard VWD treatments, heavy menstrual bleeding can be treated with hormones. Interdisciplinary management of childbirth and prophylaxis in the postpartum period are needed to reduce the risk of postpartum haemorrhage. Genomic approaches to VWD can inform VWD diagnosis, treatment, test assay selection, reproductive planning and family counselling. Most VWD patients have an identifiable VWF gene DNA variant. Next-generation sequencing is rapidly being adopted to provide more comprehensive VWF sequence information for patients with known or suspected VWD.
    Matched MeSH terms: Phenotype
  12. Fahisham Taib
    MyJurnal
    Asthma is considered as heterogeneous multidimensional disorder due to variable phenotypic presentation. Phenotype is defined as a cluster of either clinical or pathologic features, which tends to be associated with the understanding the mechanisms of the disease. Asthma is typically characterized by airway inflammation, variable airway obstruction, bronchial hyper-reactivity, smooth muscle hypertrophy and apparent reversible airflow obstruction by bronchodilators. ‘Asthma syndrome’ is a term to describe complex pathophysiology of the condition which is not exclusive to allergen triggered episodes. Diagnosing childhood asthma is difficult, due to the similarity of symptoms and overlapping with other wheezing conditions. The precise mechanism for asthma exacerbation, for each individual phenotype is not fully understood. However, it is influenced by genetic interaction with variety of external environmental stimuli. The current understanding on asthma phenotypes were interpreted based on age of onset, associated triggers, clinical aspects, physiologic parameters and type of inflammation (Table 1). Due to the illdefined of the current phenotypic definition and disagreement among the respirologists, it is becoming a challenge to label specific phenotype with certainty. Accurate definition of each phenotype should therefore be helpful to provide better understanding of different mechanistic pathways and focusing on targeted therapy for individual phenotype. (Copied from article).
    Matched MeSH terms: Phenotype
  13. Boon WH
    Med J Malaya, 1969 Jun;23(4):272-81.
    PMID: 4242175
    Matched MeSH terms: Phenotype
  14. Wong PF, Jong HL
    JUMMEC, 2014;17(2):1-6.
    MyJurnal
    MicroRNAs (miRNAs) are short, single-stranded non-coding RNAs that control gene expression by annealing to complementary sequences in mRNAs. They are estimated to regulate at least one third of human transcripts and hence, manipulation of these miRNAs can profoundly affect the proteome and ultimately cellular phenotypes. A substantial amount of work has shed light on the crucial roles of miRNAs in diseases. miRNA expression profiles between normal and diseased tissues have identified miRNA signature patterns that correlate to disease development and progression. This review discusses some of the important miRNAs that are involved in endothelial cell senescence and dysfunction that contribute to the development and progression of cardiovascular diseases.
    Matched MeSH terms: Phenotype
  15. Irni Mohd Yasin, Narazah Mohd Yusoff, Afifah Hassan, Muhammad Masrin Md. Zahrin
    MyJurnal
    Haemolytic Disease of Foetus and Newborn (HDFN) and Haemolytic Transfusion Reaction (HTR) may occur due to antibodies against Kidd antigen. In Malaysia, the prevalence of RBC alloimmunization due to Kidd antibody for cases of HDFN and HTR have been reported [1-2] however there is insufficient data in Hospital Umum Sarawak (HUS).The aim of this study is to determine whether Kidd alloimmunization causes HDFN and HTR. Indirectly categorize Kidd phenotype blood in regular blood donors.
    Matched MeSH terms: Phenotype
  16. Tsai MH, Chan CK, Chang YC, Lin CH, Liou CW, Chang WN, et al.
    Front Neurol, 2018;9:515.
    PMID: 30034362 DOI: 10.3389/fneur.2018.00515
    Objective: Focal epilepsy is the most common subtype of epilepsies in which the influence of underlying genetic factors is emerging but remains largely uncharacterized. The purpose of this study is to determine the contribution of currently known disease-causing genes in a large cohort (n = 593) of common focal non-lesional epilepsy patients. Methods: The customized focal epilepsy gene panel (21 genes) was based on multiplex polymerase chain reaction (PCR) and sequenced by Illumina MiSeq platform. Results: Eleven variants (1.85%) were considered as pathogenic or likely pathogenic, including seven novel mutations. There were three SCN1A (p.Leu890Pro, p.Arg1636Ter, and p.Met1714Val), three PRRT2 (two p.Arg217Profs*8 and p.Leu298Pro), two CHRNA4 (p.Ser284Leu, p.Ile321Asn), one DEPDC5 (p.Val516Ter), one PCDH19 (p.Asp233Asn), and one SLC2A1 (p.Ser414Ter) variants. Additionally, 16 other rare variants were classified as unknown significance due to inconsistent phenotype or lack of segregation data. Conclusion: Currently known focal epilepsy genes only explained a very small subset of focal epilepsy patients. This indicates that the underlying genetic architecture of focal epilepsies is very heterogeneous and more novel genes are likely to be discovered. Our study highlights the usefulness, challenges and limitations of using the multi-gene panel as a diagnostic test in routine clinical practice in patients with focal epilepsy.
    Matched MeSH terms: Phenotype
  17. Hussein, S., Halmi, M.I.E., Ling, A.P.K.
    MyJurnal
    Centella asiatica, a weakly aromatic plant that flourishes in wet tropical and sub-tropical areas as
    a medicinal species since ancient times. It contained important terpenoids that impart important
    medicinal values. Currently, studies on the terpenoid content of various Centella asiatica
    phenotypes have shown not only variable content but variable growth rates of different
    phenotypes that can affect future selection of phenotypes. The use of mathematical growth
    modelling can reveal important growth constants and discriminate between faster and slower
    growth phenotypes. Two Centella asiatica phenotypes from South Africa is modelled using the
    modified Gompertz model and the results showed that the C. asiatica Type-1 exhibited a faster
    growth rates and a shorter lag period at 0.152 day-1 and 2.313 day than another phenotype; C.
    asiatica Type 2 with a growth rate and a lag period of 0.067 day-1 and 3.363 day, respectively.
    The data indicates that different phenotypes of C. asiatica can have different growth rates and
    lag period and this can be important for selection of phenotypes to be used as the best bioactive
    peptides producer.
    Matched MeSH terms: Phenotype
  18. Oladosu Y, Rafii MY, Magaji U, Abdullah N, Miah G, Chukwu SC, et al.
    Biomed Res Int, 2018;2018:8936767.
    PMID: 30105259 DOI: 10.1155/2018/8936767
    The associations among yield-related traits and the pattern of influence on rice grain yield were investigated. This evaluation is important to determine the direct and indirect effects of various traits on yield to determine selection criteria for higher grain yield. Fifteen rice genotypes were evaluated under tropical condition at five locations in two planting seasons. The experiment was laid out in a randomized complete block design with three replications across the locations. Data were collected on vegetative and yield components traits. The pooled data based on the analysis of variance revealed that there were significant differences (p < 0.001) among the fifteen genotypes for all the characters studied except for panicle length and 100-grain weight. Highly significant and positive correlations at phenotypic level were observed in grain weight per hill (0.796), filled grains per panicle (0.702), panicles per hill (0.632), and tillers per hill (0.712) with yield per hectare, while moderate positive correlations were observed in flag leaf length to width ratio (0.348), days to flowering (0.412), and days to maturity (0.544). By contrast, unfilled grains per panicle (-0.225) and plant height (-0.342) had a negative significant association with yield per hectare. Filled grains per panicle (0.491) exhibited the maximum positive direct effect on yield followed by grain weight per hill (0.449), while unfilled grain per panicle (-0.144) had a negative direct effect. The maximum indirect effect on yield per hectare was recorded by the tillers per hill through the panicles per hill. Therefore, tillers per hill, filled grains per panicle, and grain weight per hill could be used as selection criteria for improving grain yield in rice.
    Matched MeSH terms: Phenotype
  19. Storey S, Ashaari MM, Clipson N, Doyle E, de Menezes AB
    Front Microbiol, 2018;9:2815.
    PMID: 30519226 DOI: 10.3389/fmicb.2018.02815
    Bioremediation offers a sustainable approach for removal of polycyclic aromatic hydrocarbons (PAHs) from the environment; however, information regarding the microbial communities involved remains limited. In this study, microbial community dynamics and the abundance of the key gene (PAH-RHDα) encoding a ring hydroxylating dioxygenase involved in PAH degradation were examined during degradation of phenanthrene in a podzolic soil from the site of a former timber treatment facility. The 10,000-fold greater abundance of this gene associated with Gram-positive bacteria found in phenanthrene-amended soil compared to unamended soil indicated the likely role of Gram-positive bacteria in PAH degradation. In contrast, the abundance of the Gram-negative PAHs-RHDα gene was very low throughout the experiment. While phenanthrene induced increases in the abundance of a small number of OTUs from the Actinomycetales and Sphingomonadale, most of the remainder of the community remained stable. A single unclassified OTU from the Micrococcaceae family increased ~20-fold in relative abundance, reaching 32% of the total sequences in amended microcosms on day 7 of the experiment. The relative abundance of this same OTU increased 4.5-fold in unamended soils, and a similar pattern was observed for the second most abundant PAH-responsive OTU, classified into the Sphingomonas genus. Furthermore, the relative abundance of both of these OTUs decreased substantially between days 7 and 17 in the phenanthrene-amended and control microcosms. This suggests that their opportunistic phenotype, in addition to likely PAH-degrading ability, was determinant in the vigorous growth of dominant PAH-responsive OTUs following phenanthrene amendment. This study provides new information on the temporal response of soil microbial communities to the presence and degradation of a significant environmental pollutant, and as such has the potential to inform the design of PAH bioremediation protocols.
    Matched MeSH terms: Phenotype
  20. Mat Ripen A, Ghani H, Chear CT, Chiow MY, Syed Yahya SNH, Kassim A, et al.
    SAGE Open Med, 2020;8:2050312120922652.
    PMID: 32547748 DOI: 10.1177/2050312120922652
    Objectives: A pair of female Malay monozygotic twins who presented with recurrent upper respiratory tract infections, hepatosplenomegaly, bronchiectasis and bicytopenia were recruited in this study. Both patients were suspected with primary immunodeficiency diseases. However, the definite diagnosis was not clear due to complex disease phenotypes. The objective of this study was to identify the causative gene mutation in these patients.

    Methods: Lymphocyte subset enumeration test and whole exome sequencing were performed.

    Results: We identified a compound heterozygous CR2 mutation (c.1916G>A and c.2012G>A) in both patients. These variants were then confirmed using Sanger sequencing.

    Conclusion: Whole exome sequencing analysis of the monozygotic twins revealed compound heterozygous missense mutations in CR2.

    Matched MeSH terms: Phenotype
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