نتایج جستجو برای: somatic mutation

تعداد نتایج: 325275  

Journal: :Journal of immunology 2001
S Bergthorsdottir A Gallagher S Jainandunsing D Cockayne J Sutton T Leanderson D Gray

Somatic hypermutation is initiated as B lymphocytes proliferate in germinal centers. The signals that switch on the mutation process are unknown. We have derived an in vitro system to define signals that will initiate mutation in normal, naive splenic B cells. We find that three signals are required to allow detection of somatic mutation in vitro; these are anti-Ig, anti-CD40, and anti-CD38. If...

2012

Cancer research samples often contain rare amounts of somatic mutations within a high background of normal wild type DNA. Many mutation detection methods compatible with tumor specimens, including gene sequencing and real-time PCR, have been reported in the literature and are commercially available. However, commercially available kits have various limitations in terms of sensitivity, specifici...

Journal: :Genetics and molecular research : GMR 2009
P L Reddy R P Grewal

Spontaneous mutations are a common phenomenon, occurring in both germ-line and somatic genomes. They may have deleterious consequences including the development of genetic disorders or, when occurring in somatic tissues, may participate in the process of carcinogenesis. Similar to many mutational hotspots, the G1138A mutation in the fibroblast growth factor receptor 3 (FGFR3) gene occurs at a C...

Journal: :Clinical cancer research : an official journal of the American Association for Cancer Research 2006
Ian G Campbell Wayne A Phillips David Y H Choong

PURPOSE A very high frequency of somatic mutations in the transforming growth factor-beta signaling component km23 has been reported in a small series of ovarian cancers (8 of 19, 42%). Functional studies showed that some mutations disrupt km23 function, resulting in aberrant transforming growth factor-beta signaling and presumably enhanced tumorigenicity. If verified, this would elevate mutati...

Journal: :Hypertension 2014
Fabio Luiz Fernandes-Rosa Tracy Ann Williams Anna Riester Olivier Steichen Felix Beuschlein Sheerazed Boulkroun Tim M Strom Silvia Monticone Laurence Amar Tchao Meatchi Franco Mantero Maria-Verena Cicala Marcus Quinkler Francesco Fallo Bruno Allolio Giampaolo Bernini Mauro Maccario Gilberta Giacchetti Xavier Jeunemaitre Paolo Mulatero Martin Reincke Maria-Christina Zennaro

Primary aldosteronism is the most common form of secondary hypertension. Somatic mutations in KCNJ5, ATP1A1, ATP2B3, and CACNA1D have been described in aldosterone-producing adenomas (APAs). Our aim was to investigate the prevalence of somatic mutations in these genes in unselected patients with APA (n=474), collected through the European Network for the Study of Adrenal Tumors. Correlations wi...

2002
M. Culligan John Hays

In contrast to multicellular animals, plants lack a reserved germ line; their gametes are formed late in their growth cycles by differentiation of somatic meristematic cells. Typically, the somatic precursors of gametophytes have divided many times, potentially subjecting their genomes to multiple rounds of spontaneous or environmentally induced mutagenesis (Walbot, 1985). However, plants do no...

Journal: :The Journal of heredity 2015
Sonali Sachin Ranade Laura-Stefana Ganea Abdur M Razzak M R García Gil

Somatic mutations are transmitted during mitosis in developing somatic tissue. Somatic cells bearing the mutations can develop into reproductive (germ) cells and the somatic mutations are then passed on to the next generation of plants. Somatic mutations are a source of variation essential to evolve new defense strategies and adapt to the environment. Stem rust disease in Scots pine has a negat...

2016
Ming-Ching Shen Ming Chen Gwo-Chin Ma Shun-Ping Chang Ching-Yeh Lin Bo-Do Lin Han-Ni Hsieh

BACKGROUND Von Willebrand disease (VWD) is not uncommon in Taiwan. In type 2 or type 3 VWD hemorrhagic symptoms are severer and laboratory data relatively more distinctive. De novo mutation and somatic mosaicism of type 2 VWD gene were rarely reported. Therefore clinical, laboratory and genetic studies of only type 2A, 2B and 2M VWD will be presented and issues of de novo mutation and somatic m...

Journal: :cell journal 0

objective: colorectal cancer (crc) is one of the most common and aggressive cancers worldwide. the majority of crc cases are sporadic that caused by somatic mutations. the adenomatous polyposis coli (apc; omim 611731) is a tumor suppressor gene of wnt pathway and is frequently mutated in crc cases. this study was designed to investigate the spectrum of apc gene mutations in iranian patients wit...

Journal: :Neuro-oncology 2022

Abstract Glioma accounts for 80% of all malignant brain tumours and is the most common adult primary tumour. Age an important factor affecting development cancer, as somatic mutations accumulate with age. Here, we aimed to analyse significance age-dependent non-silent in glioma prognosis. Histological tumour grade depends on age at diagnosis patients IDH1, TP53, ATRX, EGFR mutations. wild-type ...

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