scholarly journals Integrated Strategy for Fast and Automated Molecular Characterization of Genes Involved in Craniosynostosis

2007 ◽  
Vol 53 (10) ◽  
pp. 1767-1774 ◽  
Author(s):  
Stefania Stenirri ◽  
Gabriella Restagno ◽  
Giovanni Battista Ferrero ◽  
Georgia Alaimo ◽  
Luca Sbaiz ◽  
...  
Keyword(s):  
Molecular Characterization ◽  
Correct Diagnosis ◽  
Apert Syndrome ◽  
Developmental Defect ◽  
Crouzon Syndrome ◽  
Coding Region ◽  
Fibroblast Growth Factor Receptors ◽  
Probe Hybridization ◽  
Dhplc Analysis

Abstract Background: Craniosynostosis, the premature fusion of 1 or more sutures of the skull, is a common congenital defect, with a prevalence of 1 in 2500 live births. Untreated progressive craniosynostosis leads to inhibition of brain growth and increased intracranial and intraorbital pressure. The heterogeneity of clinical phenotypes and the overlap of the various associated syndromes render the correct diagnosis of the different craniosynostoses particularly difficult. Methods: To identify 10 common mutations in the genes for fibroblast growth factor receptors 2 and 3 (FGFR2 and FGFR3), we developed a microelectronic microchip assay that exploited the PCR multiplexing format and coupled it with serial addressing and probe hybridization on the same pad. For the molecular characterization of patients who tested negative in the microchip screening, we also developed conditions for denaturing HPLC (DHPLC) analysis of the most mutated regions of FGFR2 and FGFR3 and the entire coding region of the TWIST1 gene. Results: In our cohort of 159 patients with various craniosynostosis syndromes, mutations were found in 100% of patients with Apert syndrome, 83.3% with Pfeiffer syndrome, 72.7% with Crouzon syndrome, 50.0% with Saethre-Chotzen syndrome, 27.7% with plagiocephaly, 31.8% with brachicephaly, 20% of complex cases, and 6.9% of mixed cases. No mutations were found in syndromic cases. Conclusions: The combined microchip-DHPLC strategy allows rapid and specific molecular diagnosis of craniosynostosis and is an effective tool for the medical and surgical management of these common congenital anomalies in a newborn or an infant with a developmental defect of the cranial vault.

scholarly journals Renal Tumors of Childhood—A Histopathologic Pattern-Based Diagnostic Approach

Cancers ◽  
2020 ◽  
Vol 12 (3) ◽  
pp. 729 ◽  
Author(s):  
Ariadne H.A.G. Ooms ◽  
Gordan M. Vujanić ◽  
Ellen D’Hooghe ◽  
Paola Collini ◽  
Aurore L’Herminé-Coulomb ◽  
...  
Keyword(s):  
Molecular Characterization ◽  
Molecular Analysis ◽  
Pediatric Oncology ◽  
Correct Diagnosis ◽  
Renal Tumors ◽  
Pediatric Tumors ◽  
Cell Type ◽  
Appropriate Treatment ◽  
Histologic Pattern

Renal tumors comprise approximately 7% of all malignant pediatric tumors. This is a highly heterogeneous group of tumors, each with its own therapeutic management, outcome, and association with germline predispositions. Histopathology is the key in establishing the correct diagnosis, and therefore pathologists with expertise in pediatric oncology are needed for dealing with these rare tumors. While each tumor shows different histologic features, they do have considerable overlap in cell type and histologic pattern, making the diagnosis difficult to establish, if based on routine histology alone. To this end, ancillary techniques, such as immunohistochemistry and molecular analysis, can be of great importance for the correct diagnosis, resulting in appropriate treatment. To use ancillary techniques cost-effectively, we propose a pattern-based approach and provide recommendations to aid in deciding which panel of antibodies, supplemented by molecular characterization of a subset of genes, are required.

scholarly journals Molecular characterization of novel mucosotropic papillomaviruses from a Florida manatee (Trichechus manatus latirostris)

2015 ◽  
Vol 96 (12) ◽  
pp. 3545-3553 ◽  
Author(s):  
Maryam Zahin ◽  
Shin-je Ghim ◽  
Sujita Khanal ◽  
Gregory D. Bossart ◽  
Alfred B. Jenson ◽  
...  
Keyword(s):  
Molecular Characterization ◽  
Genomic Organization ◽  
Pairwise Alignment ◽  
Full Genome ◽  
Coding Region ◽  
Florida Manatee ◽  
Trichechus Manatus ◽  
Trichechus Manatus Latirostris ◽  
Sequence Similarities

We isolated two new manatee papillomavirus (PV) types, TmPV3 and TmPV4, from a Florida manatee (Trichechus manatus latirostris). Two PV types were previously isolated from this species. TmPV1 is widely dispersed amongst manatees and a close-to-root PV; not much is known about TmPV2. The genomes of TmPV3 and TmPV4 were 7622 and 7771 bp in size, respectively. Both PVs had a genomic organization characteristic of all PVs, with one non-coding region and seven ORFs, including the E7 ORF that is absent in other cetacean PVs. Although these PVs were isolated from separate genital lesions of the same manatee, an enlarged E2/E4 ORF was found only in the TmPV4 genome. The full genome and L1 sequence similarities between TmPV3 and TmPV4 were 63.2 and 70.3 %, respectively. These genomes shared only 49.1 and 50.2 % similarity with TmPV1. The pairwise alignment of L1 nucleotide sequences indicated that the two new PVs nested in a monophyletic group of the genus Rhopapillomavirus, together with the cutaneotropic TmPV1 and TmPV2.

scholarly journals Rough eyeIs a Gain-of-Function Allele ofamosThat Disrupts Regulation of the Proneural GeneatonalDuring Drosophila Retinal Differentiation

Genetics ◽  
2002 ◽  
Vol 160 (2) ◽  
pp. 623-635 ◽  
Author(s):  
Françoise Chanut ◽  
Katherine Woo ◽  
Shalini Pereira ◽  
Terrence J Donohoe ◽  
Shang-Yu Chang ◽  
...  
Keyword(s):  
Molecular Characterization ◽  
Chromosomal Inversion ◽  
Developmental Defect ◽  
Proneural Gene ◽  
Bhlh Gene ◽  
Residual Function ◽  
Dominant Mutation ◽  
Gain Of Function ◽  
Irregular Distribution

AbstractThe regular organization of the ommatidial lattice in the Drosophila eye originates in the precise regulation of the proneural gene atonal (ato), which is responsible for the specification of the ommatidial founder cells R8. Here we show that Rough eye (Roi), a dominant mutation manifested by severe roughening of the adult eye surface, causes defects in ommatidial assembly and ommatidial spacing. The ommatidial spacing defect can be ascribed to the irregular distribution of R8 cells caused by a disruption of the patterning of ato expression. Disruptions in the recruitment of other photoreceptors and excess Hedgehog production in differentiating cells may further contribute to the defects in ommatidial assembly. Our molecular characterization of the Roi locus demonstrates that it is a gain-of-function mutation of the bHLH gene amos that results from a chromosomal inversion. We show that Roi can rescue the retinal developmental defect of ato1 mutants and speculate that amos substitutes for some of ato's function in the eye or activates a residual function of the ato1 allele.

scholarly journals Molecular Characterization and Phylogenetic Analysis of Orf Virus Isolated From Goats in Sokoto Metropolis, Nigeria

2020 ◽  
Author(s):  
Nafiu Lawal
Keyword(s):  
Molecular Characterization ◽  
Disease Outbreaks ◽  
Coding Region ◽  
Korean Strain ◽  
B2l Gene ◽  
Chicken Eggs ◽  
Unique Amino Acid ◽  
Close Genetic Relationship ◽  
Embryonated Chicken

Aim: Despite the endemic nature of contagious ecthyma in Nigeria, there is limited report on the molecular characterization of the isolates responsible for disease outbreaks. The aim of this study was to molecularly characterize ORFV isolated from clinical infections in goats in Sokoto metropolis. Materials and Methods: Seronegative embryonated chicken eggs were used to isolate ORFV via the chorio allantoic membrane (CAM) route according to the established protocol. Viral DNA was extracted from infected CAM and the full coding region of B2L gene was amplified by PCR and subsequently sequenced by Sanger’s method. The nucleotide sequence results were blasted for identification and phylogenetically analyzed using MEGA and Bioedit softwares. Results and Discussion: The results showed that B2L gene sequences of the ORFV UDUS/01/19/More strain showed slight variability (96- 98.7%) with the reference sequences. Our isolate clustered within the same clade with Korean strain signifying a close genetic relationship. Unique amino acid substitutions were noted in our isolate when compared with other references. This is arguably the first genetic characterisation of B2L gene of ORFV circulating in Nigeria. Conclusion: Our study has provided in sight into the genetic diversity of ORFV in the study area. This is crucial for the design of effective vaccines against the disease which are currently lacking in the country.

scholarly journals Molecular Characterization of Chicken Anemia Virus Circulating in Chicken Flocks in Egypt

2014 ◽  
Vol 2014 ◽  
pp. 1-6 ◽  
Author(s):  
Mohammed AboElkhair ◽  
Alaa G. Abd El-Razak ◽  
Abd Elnaby Y. Metwally
Keyword(s):  
Amino Acid ◽  
Molecular Characterization ◽  
Nucleotide Sequences ◽  
Amino Acid Sequences ◽  
Chicken Anemia Virus ◽  
Coding Region ◽  
Commercial Chicken ◽  
Amino Acids Profile ◽  
Anemia Virus

Introduction. Although many previous studies reported detection of chicken anemia virus (CAV) in Egypt since 1990, genomic characterization of this circulating CAV has not been published. In the present study, four nucleotide sequences of detected CAV were genetically characterized.Methods. These nucleotide sequences were obtained from commercial chicken flocks in two different locations of Egypt during 2010. The target region for sequencing was 675 bp nucleotide of partial coding region of VP1 protein. The nucleotide and deduced amino acid sequences of the detected CAV were aligned and compared to worldwide CAV isolates including commonly used vaccine strains. Phylogenetic analysis of these sequences was also carried out.Results. Our results showed that all the Egyptian CAV sequences were grouped in one group with viruses from diverse geographic regions. This group is characterized by amino acids profile75I,97L,139Q, and144Q in VP1. The phylogenetic and amino acid analyses of deduced amino acid indicated that the detected CAV sequences differ from CAV vaccine strains.Conclusion. This is the first report that describes molecular characterization of circulating CAV in Egypt. The study showed that the detected CAV, in Egypt are field viruses and unrelated to vaccine strains.

scholarly journals Molecular Characterization of Feline COX-2 and Expression in Feline Mammary Carcinomas

2009 ◽  
Vol 46 (3) ◽  
pp. 423-429 ◽  
Author(s):  
K. Sayasith ◽  
J. Sirois ◽  
M. DorÉ
Keyword(s):  
Amino Acid ◽  
Molecular Characterization ◽  
Mammary Cancer ◽  
Immunohistochemical Analysis ◽  
Coding Region ◽  
Mammary Carcinomas ◽  
Acid Protein ◽  
Cox 2 ◽  
Rate Limiting

Cyclooxygenase-2 (COX-2), the rate-limiting enzyme in the biosynthesis of prostaglandins, plays an important role in inflammation and tumorigenesis. COX-2 primary structure has been characterized in many species and its expression demonstrated in a variety of cancers in humans and dogs, including mammary cancer. In contrast, there is currently little information on the structure of feline COX-2. Also, information on COX-2 expression in feline mammary cancer is limited and conflicting. The objectives of this study were therefore to characterize the molecular structure of feline COX-2 and to evaluate by immunohistochemistry its expression in mammary carcinomas. Our results show that the predicted coding region of feline COX-2 encodes a 604-amino acid protein, which is identical in length to several COX-2 homologs. Feline COX-2 amino acid sequence is highly similar to other mammalian COX-2 homologs. Immunohistochemical analysis of 40 mammary carcinomas showed that the majority of tumors studied (35/40; 87%) expressed COX-2 at a level varying from low (20/40; 50%) to intermediate (13/40; 32%) and high (2/40; 5%). These results provide the first molecular characterization of feline COX-2 and demonstrate that COX-2 is expressed in the majority of feline mammary carcinomas.

1446: Molecular Characterization of Cyclooxygenase-2 in a Stimulated Prostate Stroma Cells

2006 ◽  
Vol 175 (4S) ◽  
pp. 467-467
Author(s):  
Victor K. Lin ◽  
Shih-Ya Wang ◽  
Claus G. Roehrbom
Keyword(s):  
Molecular Characterization ◽  
Cyclooxygenase 2 ◽  
Prostate Stroma
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