نتایج جستجو برای: mutated dtxa chain

تعداد نتایج: 320291  

2014
Boram Lee Boin Lee Gangmin Han Mi Jung Kwon Joungho Han Yoon-La Choi

BACKGROUND KRAS is one of commonly mutated genetic "drivers" in non-small cell lung cancers (NSCLCs). Recent studies indicate that patients with KRAS-mutated tumors do not benefit from adjuvant chemotherapy, so there is now a focus on targeting KRAS-mutated NSCLCs. A feasible mutation detection method is required in order to accurately test for KRAS status. METHODS We compared direct Sanger s...

Journal: :Haematologica 2015
Hanna L M Rajala Thomas Olson Michael J Clemente Sonja Lagström Pekka Ellonen Tuija Lundan David E Hamm Syed Arshi Uz Zaman Jesus M Lopez Marti Emma I Andersson Andres Jerez Kimmo Porkka Jaroslaw P Maciejewski Thomas P Loughran Satu Mustjoki

T-cell large granular lymphocytic leukemia and chronic lymphoproliferative disorder of natural killer cells are intriguing entities between benign and malignant lymphoproliferation. The molecular pathogenesis has partly been uncovered by the recent discovery of somatic activating STAT3 and STAT5b mutations. Here we show that 43% (75/174) of patients with T-cell large granular lymphocytic leukem...

Journal: :Journal of medical genetics 2007
Angela Pyle Robert W Taylor Steve E Durham Marcus Deschauer Andrew M Schaefer David C Samuels Patrick F Chinnery

BACKGROUND The 3243A-->G MTTL1 mutation is the most common heteroplasmic mitochondrial DNA (mtDNA) mutation associated with disease. Previous studies have shown that the percentage of mutated mtDNA decreases in blood as patients get older, but the mechanisms behind this remain unclear. OBJECTIVES AND METHOD To understand the dynamics of the process and the underlying mechanisms, an accurate f...

Journal: :Genetics and molecular research : GMR 2015
C G Gonçalves B C Almeida C M Camargo-Kosugi A M M Costa I D C G Silva M A Haidar

In this study, we evaluated genetic factors related to the mineral density during post-menopause. We evaluated 110 women in the first 5 years post-menopause, without previous hormone replacement therapy. Cytochrome P450 17 (CYP17) (rs743572), catechol-O-methyl transferase (COMT) (rs4680), and estrogen receptor 1 (ESR1) (rs9322331) were examined for the presence of polymorphisms. Clinical data w...

2013
Robbert Hoogeboom Kok P.M. van Kessel Frans Hochstenbach Thera A. Wormhoudt Roy J.A. Reinten Koen Wagner Arnon P. Kater Jeroen E.J. Guikema Richard J. Bende Carel J.M. van Noesel

B cell chronic lymphocytic leukemia (CLL), the most common leukemia in adults, is a clonal expansion of CD5(+)CD19(+) B lymphocytes. Two types of CLLs are being distinguished as carrying either unmutated or somatically mutated immunoglobulins (Igs), which are associated with unfavorable and favorable prognoses, respectively. More than 30% of CLLs can be grouped based on their expression of ster...

Journal: :Cancer research 2000
L Pasqualucci A Neri L Baldini R Dalla-Favera A Migliazza

The cell of origin of B-cell chronic lymphocytic leukemia (B-CLL) is still uncertain. Recent studies have indicated that a fraction of B-CLL displays somatically mutated immunoglobulin variable heavy chain (IgV(H)) genes, which suggests an origin from a post-germinal center (GC) B cell. It has been shown that the 5' noncoding region of the BCL-6 proto-oncogene is affected by mutations in normal...

Journal: :Blood 2015
David Rodríguez Gabriel Bretones Víctor Quesada Neus Villamor Javier R Arango Armando López-Guillermo Andrew J Ramsay Tycho Baumann Pedro M Quirós Alba Navarro Cristina Royo José I Martín-Subero Elías Campo Carlos López-Otín

Great progress has recently been achieved in the understanding of the genomic alterations driving chronic lymphocytic leukemia (CLL). Nevertheless, the specific molecular mechanisms governing chromatin remodeling in CLL are unknown. Here we report the genetic and functional characterization of somatic mutations affecting the chromatin remodeler CHD2, one of the most frequently mutated genes in ...

Journal: :acta medica iranica 0
mana oloomi department of molecular biology, pasteur institute of iran, tehran, iran. najmeh yardehnavi department of molecular biology, pasteur institute of iran, tehran, iran. saeid bouzari department of molecular biology, pasteur institute of iran, tehran, iran. neda moazzezy department of molecular biology, pasteur institute of iran, tehran, iran.

breast carcinoma is the major cause of cancer-related death in women. the incidence of this carcinoma is rising and there are many attempts to decrease this problem. the aim of this study was detection of full-length cytokeratin 19 (ck19) mrna, in peripheral blood and tissue of breast cancer patients in early stage of cancer. in this study, rt-pcr (reverse transcriptase-polymerase chain reactio...

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