نتایج جستجو برای: ژن stk11

تعداد نتایج: 16599  

2017
Yanli Zhang Yao Ke Xueni Zheng Qing Liu Xiaohong Duan

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 ...

Journal: :Clinical cancer research : an official journal of the American Association for Cancer Research 2006
Nicholas Hearle Valérie Schumacher Fred H Menko Sylviane Olschwang Lisa A Boardman Johan J P Gille Josbert J Keller Anne Marie Westerman Rodney J Scott Wendy Lim Jill D Trimbath Francis M Giardiello Stephen B Gruber G Johan A Offerhaus Felix W M de Rooij J H Paul Wilson Anika Hansmann Gabriela Möslein Brigitte Royer-Pokora Tilman Vogel Robin K S Phillips Allan D Spigelman Richard S Houlston

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...

ژورنال: :پژوهش های آسیب شناسی زیستی 0
mojgan ataei-kachouei department of medical genetics, faculty of medical sciences, tarbiat modares university, tehran, iran javad nadaf department of human genetics, mcgill university, montreal, canada mohammad taghi akbari department of medical genetics, faculty of medical sciences, tarbiat modares university, tehran, iran morteza atri cancer research institute, tehran university of medical sciences, tehran, iran jacek majewski mcgill university and genome quebec innovation center, montreal, canada yasser riazalhosseini mcgill university and genome quebec innovation center, montreal, canada masoud garshasbi

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...

2014
Hyun-Dong Chae Chang-Ho Jeon

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...

2011
Josiane Souza Fábio Faucz Vanessa Sotomaior Aguinaldo Bonalumi Filho Jill Rosenfeld Salmo Raskin

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...

Journal: :Atlas of Genetics and Cytogenetics in Oncology and Haematology 2011

Journal: :Journal of clinical pathology 2001
M M Entius J J Keller A M Westerman B P van Rees M L van Velthuysen A F de Goeij J H Wilson F M Giardiello G J Offerhaus

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...

Journal: :The Journal of clinical endocrinology and metabolism 2013
Seungmin Ham Sarah J Meachem Catherine S Choong Adrian K Charles Gareth S Baynam Timothy W Jones Nirukshi U Samarajeewa Evan R Simpson Kristy A Brown

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...

2012
Paweł Boruń Andrzej Plawski Anna Bartkowiak Wojciech Cichy

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...

Journal: :Annals of Oncology 2022

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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