A naturally occurring estrogen receptor mutation results in increased estrogenicity of a tamoxifen analog.
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Inhibition of estrogen receptor action by a naturally occurring variant in human breast tumors.
It is fairly well accepted that the presence of estrogen receptor (ER) and progesterone receptor (PgR) identifies breast cancer patients with a lower risk of relapse and better overall survival. But patients with discordant receptors, the ER+/PgR- phenotype, are often intermediate in clinical response. We focused upon this group of patients and have identified a truncated ER which is abundant i...
متن کاملLipoprotein lipase S447X: a naturally occurring gain-of-function mutation.
Lipoprotein lipase (LPL) hydrolyzes triglycerides in the circulation and promotes the hepatic uptake of remnant lipoproteins. Since the gene was cloned in 1989, more than 100 LPL gene mutations have been identified, the majority of which cause loss of enzymatic function. In contrast to this, the naturally occurring LPL(S447X) variant is associated with increased lipolytic function and an anti-a...
متن کاملBrief report A homologous naturally occurring mutation in Duffy and CCR5 leading to reduced receptor expression
Genetic variations in the CC chemokine receptor (CCR5) leading to reduced or absent expression are associated with resistance to human immunodeficiency virus infection and delayed onset of acquired immunodeficiency syndrome. Similarly, lack of the red-cell chemokine receptor Duffy confers protection against malarial infection by Plasmodium vivax. Investigators have previously described a missen...
متن کاملA homologous naturally occurring mutation in Duffy and CCR5 leading to reduced receptor expression.
Genetic variations in the CC chemokine receptor (CCR5) leading to reduced or absent expression are associated with resistance to human immunodeficiency virus infection and delayed onset of acquired immunodeficiency syndrome. Similarly, lack of the red-cell chemokine receptor Duffy confers protection against malarial infection by Plasmodium vivax. Investigators have previously described a missen...
متن کاملNaturally occurring ehrlichiosis in Egyptian dogs
Canine ehrlichiosis has emerged as one of the most clinically important tick-borne diseases affecting dogs. Eighty-five naturally infected dogs have been investigated, the most consistent clinical signs recorded were fever, emaciation and lymphoadenopathy, anemia, monocytosis, thrompocytopenia, hypoalbuminemia, elevation in liver enzymes and total bilirubin were the most remarkable changes asso...
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ژورنال
عنوان ژورنال: Molecular Endocrinology
سال: 1995
ISSN: 0888-8809,1944-9917
DOI: 10.1210/mend.9.8.7476979