scholarly journals Corrigendum to “Genotype-Phenotype Characterization of Novel Variants in Six Italian Patients with Familial Exudative Vitreoretinopathy”

2017 ◽  
Vol 2017 ◽  
pp. 1-2
Author(s):  
Giancarlo Iarossi ◽  
Matteo Bertelli ◽  
Paolo Enrico Maltese ◽  
Elena Gusson ◽  
Giorgio Marchini ◽  
...  
Keyword(s):  
Familial Exudative Vitreoretinopathy ◽  
Novel Variants ◽  
Phenotype Characterization

scholarly journals Genotype-Phenotype Characterization of Novel Variants in Six Italian Patients with Familial Exudative Vitreoretinopathy

2017 ◽  
Vol 2017 ◽  
pp. 1-10 ◽  
Author(s):  
Giancarlo Iarossi ◽  
Matteo Bertelli ◽  
Paolo Enrico Maltese ◽  
Elena Gusson ◽  
Giorgio Marchini ◽  
...  
Keyword(s):  
Genetic Testing ◽  
Autosomal Dominant ◽  
Pedigree Analysis ◽  
Familial Exudative Vitreoretinopathy ◽  
Complex Disorder ◽  
Novel Variants ◽  
Age Appropriate ◽  
Genetic Evaluations ◽  
Age Range

Familial exudative vitreoretinopathy (FEVR) is a complex disorder characterized by incomplete development of the retinal vasculature. Here, we report the results obtained on the spectrum of genetic variations and correlated phenotypes found in a cohort of Italian FEVR patients. Eight probands (age range 7–19 years) were assessed by genetic analysis and comprehensive age-appropriate ophthalmic examination. Genetic testing investigated the genes most widely associated in literature with FEVR: FZD4, LRP5, TSPAN12, and NDP. Clinical and genetic evaluations were extended to relatives of probands positive to genetic testing. Six out of eight probands (75%) showed a genetic variation probably related to the phenotype. We identified four novel genetic variants, one variant already described in association with Norrie disease and one previously described linked to autosomal dominant FEVR. Pedigree analysis of patients led to the classification of four autosomal dominant cases of FEVR (caused by FZD4 and TSPAN12 variants) and two X-linked FEVR probands (NDP variants). None of the patients showed variants in the LRP5 gene. This study represents the largest cohort study in Italian FEVR patients. Our findings are in agreement with the previous literature confirming that FEVR is a clinically and genetically heterogeneous retinal disorder, even when it manifests in the same family.

Molecular and phenotype characterization of an elongated β‐globin variant produced by HBB:C.313delA

2021 ◽  
Author(s):  
Wanying Lin ◽  
Qianqian Zhang ◽  
Zongrui Shen ◽  
Xiang Qu ◽  
Qi Wang ◽  
...  
Keyword(s):  
Phenotype Characterization

Characterization of novel ybjG and dacC variants in Escherichia coli

2013 ◽  
Vol 62 (11) ◽  
pp. 1728-1734 ◽  
Author(s):  
Dongguo Wang ◽  
Enping Hu ◽  
Jiayu Chen ◽  
Xiulin Tao ◽  
Katelyn Gutierrez ◽  
...  
Keyword(s):  
Escherichia Coli ◽  
Multiple Drug Resistance ◽  
Multiple Drug ◽  
The Novel ◽  
Conventional Pcr ◽  
E Coli ◽  
Novel Variants ◽  
Restriction Sites ◽  
Genetic Structures

A total of 69 strains of Escherichia coli from patients in the Taizhou Municipal Hospital, China, were isolated, and 11 strains were identified that were resistant to bacitracin, chloramphenicol, tetracycline and erythromycin. These strains were PCR positive for at least two out of three genes, ybjG, dacC and mdfA, by gene mapping with conventional PCR detection. Conjugation experiments demonstrated that these genes existed in plasmids that conferred resistance. Novel ybjG and dacC variants were isolated from E. coli strains EC2163 and EC2347, which were obtained from the sputum of intensive care unit patients. Genetic mapping showed that the genes were located on 8200 kb plasmid regions flanked by EcoRI restriction sites. Three distinct genetic structures were identified among the 11 PCR-positive strains of E. coli, and two contained the novel ybjG and dacC variants. The putative amino acid differences in the ybjG and dacC gene variants were characterized. These results provide evidence for novel variants of ybjG and dacC, and suggest that multiple drug resistance in hospital strains of E. coli depends on the synergistic function of ybjG, dacC and mdfA within three distinct genetic structures in conjugative plasmids.

Genetic Characterization of Hereditary Cancer Syndromes Based on Targeted Next-Generation Sequencing

2021 ◽  
pp. 1-9
Author(s):  
Pelin Ercoskun ◽  
Cigdem Yuce Kahraman ◽  
Guller Ozkan ◽  
Abdulgani Tatar
Keyword(s):  
Hereditary Cancer ◽  
Hereditary Cancer Syndrome ◽  
Cancer Syndrome ◽  
Targeted Next Generation Sequencing ◽  
Pathogenic Variants ◽  
Novel Variants ◽  
Genetics And Genomics ◽  
Cancer Syndromes ◽  
Generation Sequencing

A hereditary cancer syndrome is a genetic predisposition to cancer caused by a germline mutation in cancer-related genes. Identifying the disease-causing variant is important for both the patient and relatives at risk in cancer families because this could be a guide in treatment and secondary cancer prevention. In this study, hereditary cancer panel harboring cancer-related genes was performed on MiSeq Illumina NGS system from peripheral blood samples. Sequencing files were fed into a cloud-based data analysis pipeline. Reportable variants were classified according to the American College of Medical Genetics and Genomics guidelines. Three hundred five individuals were included in the study. Different pathogenic/likely pathogenic variants were detected in 75 individuals. The majority of these variants were in the <i>MUTYH</i>, <i>BRCA2</i>, and <i>CHEK2</i> genes. Nine novel pathogenic/likely pathogenic variants were identified in <i>BRCA1</i>, <i>BRCA2</i>, <i>GALNT12</i>, <i>ATM</i>, <i>MLH1</i>, <i>MSH2</i>, <i>APC</i>, and <i>KIT</i> genes. We obtained interesting and novel variants which could be related to hereditary cancer, and this study confirmed that NGS is an indispensable method for the risk assessment in cancer families.

Detection of binding sites for spiroperidol on leukemic cells: Its value for the phenotype characterization of lymphoid leukemias

1983 ◽  
Vol 7 (3) ◽  
pp. 349-355 ◽  
Author(s):  
J.Y. Perrot ◽  
C. Boucheix ◽  
G. Lefur ◽  
T. Phan ◽  
A. Flamier ◽  
...  
Keyword(s):  
Binding Sites ◽  
Leukemic Cells ◽  
Phenotype Characterization

scholarly journals Phenotype characterization of human melanoma cells resistant to dabrafenib

2017 ◽  
Vol 38 (5) ◽  
pp. 2741-2751 ◽  
Author(s):  
Fabiola Gilda Cordaro ◽  
Anna Lisa De Presbiteris ◽  
Rosa Camerlingo ◽  
Nicola Mozzillo ◽  
Giuseppe Pirozzi ◽  
...  
Keyword(s):  
Melanoma Cells ◽  
Human Melanoma ◽  
Human Melanoma Cells ◽  
Phenotype Characterization

ABSTRACTS: 9
Phenotype characterization of the anti-inflammatory behavior of decidual endothelial cells

2008 ◽  
Vol 60 (1) ◽  
pp. 88-88
Author(s):  
C Agostinis ◽  
E Masat ◽  
F Bossi ◽  
L Lombardelli ◽  
C Tripodo ◽  
...  
Keyword(s):  
Endothelial Cells ◽  
Phenotype Characterization ◽  
Anti Inflammatory

scholarly journals Phenotype characterization of interspecific hybrid abalone Haliotis asinina and Haliotis squamata seed

2014 ◽  
Vol 12 (1) ◽  
pp. 25
Author(s):  
Dinar Tri Soelistyowati ◽  
Aldilla Kusumawardhani ◽  
Muhammad Zairin Junior
Keyword(s):  
Sea Water ◽  
Mass Scale ◽  
Hatching Rate ◽  
Growth And Survival ◽  
Haliotis Asinina ◽  
Phenotype Characterization ◽  
Hybrid Seeds ◽  
Early Veliger ◽  
Female Brood

<p class="NoParagraphStyle" align="center"><strong>ABSTRACT</strong></p><p class="NoParagraphStyle" align="center"><strong> </strong></p><p class="NoParagraphStyle">Abalone is one of sea-water aquaculture commodity that having relatively low in growth and survival. Interspesific hybridization between abalone <em>Haliotis asinina</em> and <em>Haliotis squamata</em> is required to produce hybrid seeds having a better phenotype inherited from their parents. Crossbreeding of abalone was done in the reciprocal procedure with a natural spawning technique on mass scale. The hybrid seeds showed higher similarity with female brood (98,69%), while  the larvae from <em>H. squamata </em>× <em>H. asinina</em> were abnormal on trocophore until early veliger phase then dead occurred the next phase. The results showed that hybridization between male <em>H. asinina</em> and female <em>H. squamata</em> had higher fertilization and hatching rate than its reciprocal i.e. 76.01±6.15% and 60.14±4.80%.</p><p class="NoParagraphStyle"> </p><p class="NoParagraphStyle">Keywords: interspesific hybridization, phenotype, <em>Haliotis asinina</em>, <em>Haliotis squamata</em>, abalone</p><p class="NoParagraphStyle"> </p><p class="NoParagraphStyle"> </p><p class="NoParagraphStyle" align="center"><strong>ABSTRAK</strong></p><p class="NoParagraphStyle" align="center"><strong> </strong></p><p class="NoParagraphStyle">Abalon merupakan komoditas budidaya laut dengan pertumbuhan yang relatif lambat dan kelangsungan hidupnya rendah. Rekayasa persilangan interspesifik antara abalon <em>Haliotis asinina</em> dan <em>Haliotis squamata</em> diharapkan mampu mengatasi permasalahan benih dan memiliki fenotipe unggul yang diwariskan dari tetuanya. Persilangan abalon dilakukan secara resiprok dengan teknik pemijahan alami skala massal. Hasil penelitian menunjukkan bahwa benih hibrida menunjukkan kemiripan dengan induknya sebesar 98,69%, sedangkan larva hibrida antara jantan <em>H. squamata </em>× <em>H. asinina</em> menunjukkan bentuk abnormal pada fase trokofor hingga veliger awal dan kematian pada fase lanjut. Hibridisasi antara jantan <em>H. asinina</em> dan betina <em>H. squamata</em> memiliki derajat pembuahan dan derajat penetasan yang lebih tinggi dibandingkan resiprokalnya, yaitu berturut-turut 76,01±6,15% dan 60,14±4,80%.</p><p class="NoParagraphStyle"> </p><p class="NoParagraphStyle">Kata kunci: hibridisasi interspesifik, fenotipe, <em>Haliotis asinina</em>, <em>Haliotis squamata</em>, abalon</p><p> </p><p class="NoParagraphStyle" align="center"> </p>

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