نتایج جستجو برای: ژن stk11
تعداد نتایج: 16599 فیلتر نتایج به سال:
Peutz-Jeghers syndrome (PJS) is a hereditary disorder characterized by mucocutaneous pigmentations, gastrointestinal (GI) polyposis and an increased risk of certain malignancies. Little is known about the causative genes of PJS, or their association with the clinical phenotypes of PJS. The present study reports the results of clinical and genetic analysis of three Chinese families with PJS. In ...
BACKGROUND Although an increased cancer risk in Peutz-Jeghers syndrome is established, data on the spectrum of tumors associated with the disease and the influence of germ-line STK11/LKB1 (serine/threonine kinase) mutation status are limited. EXPERIMENTAL DESIGN We analyzed the incidence of cancer in 419 individuals with Peutz-Jeghers syndrome, and 297 had documented STK11/LKB1 mutations. R...
هدف: از زمان شناسایی دو ژن پرنفوذ brca1/2 با وراثت بارز در دهه 1990 تاکنون ژنهای مختلفی شناسایی شدهاست که در مجموع حدود 25 درصد اساس ژنتیکی سرطان پستان ارثی را توضیح میدهد و حداقل 75 درصد آن همچنان ناشناخته باقی مانده است. هدف از انجام این مطالعه بررسی وجود یا عدم وجود الگوی وراثتی مغلوب در این بیماری هتروژن است که احتمال وجود آن توسط برخی از محققین مطرح شده است. مواد و روشها: در این مطالعه...
Peutz-Jeghers syndrome (PJS), also known as periorificial lentiginosis, is a rare autosomal dominant inherited disease with an incidence of 1/200,000 live-borns. Mutations in the serine-threonine kinase 11 (STK11) gene are considered the major cause of PJS. The most frequent complication at young age is recurrent intussusception due to multiple hamartomatous polyps, primarily in the small intes...
The Peutz-Jeghers syndrome (PJS) is an autosomal-dominant hamartomatous polyposis syndrome characterized by mucocutaneous pigmentation, gastrointestinal polyps and the increased risk of multiple cancers. The causative point mutation in the STK11 gene of most patients accounts for about 30% of the cases of partial and complete gene deletion. This is a report on a girl with PJS features, learning...
AIM To investigate whether mutations in the STK11/LKB1 gene and genes implicated in the colorectal adenoma-carcinoma sequence are involved in Peutz-Jeghers syndrome (PJS) related tumorigenesis. METHODS Thirty nine polyps and five carcinomas from 17 patients (from 13 families) with PJS were analysed for loss of heterozygosity (LOH) at 19p13.3 (STK11/LKB1 gene locus), 5q21 (APC gene locus), 18q...
CONTEXT Peutz-Jeghers syndrome (PJS) is an autosomal-dominant disorder that arises as a consequence of mutations in the STK11 gene that encodes LKB1. PJS males often have estrogen excess manifesting as gynecomastia and advanced bone age. We and others have previously described an increase in testicular aromatase expression in PJS patients. However, the underlying mechanism has not yet been expl...
Peutz-Jeghers syndrome (PJS, MIM # 175200) is a rare, hereditary predisposition characterized by the occurrence of hamartomatous polyps in the gastrointestinal tract, mucocutaneous pigmentation, and increased risk of cancer in multiple internal organs. The incidence of the syndrome, depending on the studied population, has estimated range from 1:25,000 even up to 1:300,000 births. PJS is an aut...
Liquid biopsy (LB) is a feasible tool able to detect genomic alterations in cancer at baseline and also as longitudinal monitoring identify resistance mutations. In patients (pts) with mNSCLC, when tissue remains difficult procedure, LB might be crucial for therapeutical options, especially the immunotherapy (IO) target therapy era. The aim of this bicentric study assess prognostic value mNSCLC...
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