Clinical and molecular characterization of de novo loss of function variants inHNRNPU

2017 ◽  
Vol 173 (10) ◽  
pp. 2680-2689 ◽  
Author(s):  
Magalie S. Leduc ◽  
Hsiao-Tuan Chao ◽  
Chunjing Qu ◽  
Magdalena Walkiewicz ◽  
Rui Xiao ◽  
...  
Keyword(s):  
Molecular Characterization ◽  
De Novo ◽  
Loss Of Function

scholarly journals Identification and molecular characterization of de novo translocation t(8;14)(q22.3;q13) associated with a vascular and tissue overgrowth syndrome

2001 ◽  
Vol 95 (3-4) ◽  
pp. 183-188 ◽  
Author(s):  
Q. Wang ◽  
A.A. Timur ◽  
P. Szafranski ◽  
A. Sadgephour ◽  
V. Jurecic ◽  
...  
Keyword(s):  
Molecular Characterization ◽  
De Novo ◽  
Overgrowth Syndrome ◽  
De Novo Translocation

Cytogenetic and molecular characterization of a de-novo cryptic deletion of 7p21 associated with an apparently balanced translocation and complex craniosynostosis

2007 ◽  
Vol 16 (4) ◽  
pp. 253-256 ◽  
Author(s):  
Shashirekha Shetty ◽  
Kym M. Boycott ◽  
Tanya L. Gillan ◽  
Kathy Bowser ◽  
Jillian S. Parboosingh ◽  
...  
Keyword(s):  
Molecular Characterization ◽  
De Novo ◽  
Balanced Translocation

scholarly journals Recent Advances in the Molecular Biology of Systemic Mastocytosis: Implications for Diagnosis, Prognosis, and Therapy

2020 ◽  
Vol 21 (11) ◽  
pp. 3987 ◽  
Author(s):  
Margherita Martelli ◽  
Cecilia Monaldi ◽  
Sara De Santis ◽  
Samantha Bruno ◽  
Manuela Mancini ◽  
...  
Keyword(s):  
Molecular Characterization ◽  
Systemic Mastocytosis ◽  
Gene Mutations ◽  
Scoring Systems ◽  
Molecular Data ◽  
Loss Of Function ◽  
Prognostic Information ◽  
Genetic Profiling ◽  
Kit D816v

In recent years, molecular characterization and management of patients with systemic mastocytosis (SM) have greatly benefited from the application of advanced technologies. Highly sensitive and accurate assays for KIT D816V mutation detection and quantification have allowed the switch to non-invasive peripheral blood testing for patient screening; allele burden has prognostic implications and may be used to monitor therapeutic efficacy. Progress in genetic profiling of KIT, together with the use of next-generation sequencing panels for the characterization of associated gene mutations, have allowed the stratification of patients into three subgroups differing in terms of pathogenesis and prognosis: (i) patients with mast cell-restricted KIT D816V; (ii) patients with multilineage KIT D816V-involvement; (iii) patients with “multi-mutated disease”. Thanks to these findings, new prognostic scoring systems combining clinical and molecular data have been developed. Finally, non-genetic SETD2 histone methyltransferase loss of function has recently been identified in advanced SM. Assessment of SETD2 protein levels and activity might provide prognostic information and has opened new research avenues exploring alternative targeted therapeutic strategies. This review discusses how progress in recent years has rapidly complemented previous knowledge improving the molecular characterization of SM, and how this has the potential to impact on patient diagnosis and management.

Molecular Characterization of Younger Indian Patients with De Novo Myelodysplastic Syndromes: AIIMS Experience

2017 ◽  
Vol 55 ◽  
pp. S138
Author(s):  
R. Chaubey ◽  
S. Sazawal ◽  
M. Mahapatra ◽  
S. Chhikara ◽  
R. Saxena
Keyword(s):  
Molecular Characterization ◽  
Myelodysplastic Syndromes ◽  
De Novo ◽  
Indian Patients

scholarly journals Interstitial de novo 18q22.3q23 deletion: clinical, neuroradiological and molecular characterization of a new case and review of the literature

2016 ◽  
Vol 9 (1) ◽  
Author(s):  
Elisa Tassano ◽  
Mariasavina Severino ◽  
Silvia Rosina ◽  
Riccardo Papa ◽  
Domenico Tortora ◽  
...  
Keyword(s):  
Molecular Characterization ◽  
De Novo ◽  
Review Of The Literature

scholarly journals Molecular Characterization of eutF Mutants ofSalmonella typhimurium LT2 Identifies eutFLesions as Partial-Loss-of-Function tonB Alleles

1999 ◽  
Vol 181 (2) ◽  
pp. 368-374 ◽  
Author(s):  
Michael G. Thomas ◽  
George A. O’Toole ◽  
Jorge C. Escalante-Semerena
Keyword(s):  
Amino Acid ◽  
Molecular Characterization ◽  
Immunoblot Analysis ◽  
Phenotypic Characterization ◽  
Loss Of Function ◽  
Wild Type ◽  
Partial Loss ◽  
Acid Addition ◽  
Fusion Site

ABSTRACT The eutF locus of Salmonella typhimuriumLT2 was identified as a locus necessary for the utilization of ethanolamine as a sole carbon source. Initial models suggested that EutF was involved in either ethanolamine transport or was a transcriptional regulator of an ethanolamine transporter. Phenotypic characterization of eutF mutants suggested EutF was somehow involved in 1,2-propanediol, propionate, and succinate utilization. Here we provide evidence that two alleles defining the eutFlocus, Δ903 and eutF1115, are partial-loss-of-function tonB alleles. Both mutations were complemented by plasmids containing a wild-type allele of theEscherichia coli tonB gene. Immunoblot analysis using TonB monoclonal antibodies detected a TonB fusion protein in strains carrying eutF alleles. Molecular analysis of the Δ903 allele identified a deletion that resulted in the fusion of the 3′ end of tonB with the 3′ end oftrpA. In-frame translation of the tonB-trpAfusion resulted in the final 9 amino acids of TonB being replaced by a 45-amino-acid addition. We isolated a derivative of a strain carrying allele Δ903 that regained the ability to grow on ethanolamine as a carbon and energy source. The molecular characterization of the mutation that corrected the Eut−phenotype caused by allele Δ903 showed that the new mutation was a deletion of two nucleotides at the tonB-trpAfusion site. This deletion resulted in a frameshift that replaced the 45-amino-acid addition with a 5-amino-acid addition. This change resulted in a TonB protein with sufficient activity to restore growth on ethanolamine and eut operon expression to nearly wild-type levels. It was concluded that the observed EutF phenotypes were due to the partial loss of TonB function, which is proposed to result in reduced cobalamin and ferric siderophore transport in an aerobic environment; thus, the eutF locus does not exist.

Identification and molecular characterization of a small 11q23.3 de novo duplication in a patient with Rett syndrome manifestations

1998 ◽  
Vol 80 (3) ◽  
pp. 273-280 ◽  
Author(s):  
Bruno Delobel ◽  
Val�rie Delannoy ◽  
Giorgio Pini ◽  
Michele Zapella ◽  
Marc Tardieu ◽  
...  
Keyword(s):  
Molecular Characterization ◽  
Rett Syndrome ◽  
De Novo
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