Clinical insights and molecular study of three foetuses with DYNC2H1 gene mutation causing short rib thoracic dystrophy

2021 ◽  
Author(s):  
Seema Thakur ◽  
Rachna Gupta ◽  
Deepak Bansal ◽  
Chanchal Singh ◽  
Divya Agarwal ◽  
...  
Keyword(s):  
Gene Mutation ◽  
Molecular Study ◽  
Thoracic Dystrophy

scholarly journals Molecular study of Nucleophosmin 1(NPM1) gene in acute myeloid leukemia in Kurdish population

2021 ◽  
Vol 21 (2) ◽  
pp. 687-692
Author(s):  
Galawezh Obaid Othman ◽  
Nawsherwan Sadiq Mohammad ◽  
Chiman Hameed Saeed
Keyword(s):  
Acute Myeloid Leukemia ◽  
Gene Mutation ◽  
Myeloid Leukemia ◽  
Gene Mutations ◽  
Treatment Decision ◽  
Molecular Study ◽  
Prognostic Indicators ◽  
Base Substitution ◽  
Molecular Abnormalities ◽  
Acute Myeloid

Background: In patients with Acute Myeloid Leukemia (AML) the most frequent acquired molecular abnormalities and important prognostic indicators is nucleophosmin-1 (NPM1) mutations. Our study aims was molecular study of Nucleop- hosmin -1 gene in Acute Myeloid Leukemia in Kurdish population. Patients &Methods: A total of 50 patients with AML, (36) of them attended Nanakaly Hospital and (14) attended Hiwa Hospital and 30 healthy subjects as control were selected randomly, all were matched of age and gender. Polymerase chain reaction (PCR) was used for detection of NPM1 gene mutation. Three samples of PCR product for NPM1 gene mutations were sequenced, and mutations were determined by comparison with the normal NPM1 sequence NCBI (GenBank acces- sion number NM_002520). Results: Out of 50 patients with AML, 5 (10%) of them were NPM1 gene mutation positive, and 45 (90%) were negative. The mutation were a base substitution (C to A), (G to C), (G to T), transversion mutation in addition of frame shift mutation and all mutated cases were heterozygous and retained a wild type allele. Conclusion: Identification of NPM1 mutations in AML are important for prognostication, treatment decision and optimi- zation of patient care. Keywords: Acute myeloid leukemia; Nucleophosmin-1 (NPM-1) gene mutation; PCR.

Abstract #703: An Adult Patient with Severe Hypocalciuric Hypercalcemia with Negative Casr Gene Mutation

2015 ◽  
Vol 21 ◽  
pp. 124-125
Author(s):  
Grace Kim ◽  
Michael Marchese ◽  
Hassan Shawa ◽  
Matthew Leinung ◽  
Sara Clark
Keyword(s):  
Adult Patient ◽  
Gene Mutation ◽  
Casr Gene

SCREENING OF FSH RECEPTOR GENE MUTATION (C566T) IN AZOOSPERMIC MEN IN JAPAN

2006 ◽  
Vol 52 (1) ◽  
pp. 15-19 ◽  
Author(s):  
T. Ishikawa ◽  
M. Fujisawa ◽  
J. Tapanainen
Keyword(s):  
Gene Mutation ◽  
Receptor Gene ◽  
Fsh Receptor ◽  
Fsh Receptor Gene

A frequent gene mutation associated with autosomal dominant Parkinson's disease

The Lancet ◽  
2005 ◽  
Vol 365 (9457) ◽  
pp. 412-415 ◽  
Author(s):  
A DIFONZO ◽  
C ROHE ◽  
J FERREIRA ◽  
H CHIEN ◽  
L VACCA ◽  
...  
Keyword(s):  
Parkinson’S Disease ◽  
Parkinson's Disease ◽  
Gene Mutation ◽  
Autosomal Dominant
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