نتایج جستجو برای: g in exon 2

تعداد نتایج: 17477484  

Journal: :Clinical cancer research : an official journal of the American Association for Cancer Research 2003
Rui Yang Rebecca Sowers BethAnne Mazza John H Healey Andrew Huvos Holcombe Grier Mark Bernstein G Peter Beardsley Mark D Krailo Meenakshi Devidas Joseph R Bertino Paul A Meyers Richard Gorlick

High-dose methotrexate is a standard component of therapy for high-grade osteosarcoma. Its effectiveness may be limited by intrinsic and acquired resistance. Decreased reduced folate carrier (RFC) expression has been shown in approximately half of osteosarcomas at diagnosis. Mutations and polymorphisms in the RFC gene have been reported in various cell lines. The purpose of this study was to in...

2017
Erik van der Wal Atze J. Bergsma Tom J.M. van Gestel Stijn L.M. in ‘t Groen Holm Zaehres Marcos J. Araúzo-Bravo Hans R. Schöler Ans T. van der Ploeg W.W.M. Pim Pijnappel

Pompe disease is a metabolic myopathy caused by deficiency of the acid α-glucosidase (GAA) enzyme and results in progressive wasting of skeletal muscle cells. The c.-32-13T>G (IVS1) GAA variant promotes exon 2 skipping during pre-mRNA splicing and is the most common variant for the childhood/adult disease form. We previously identified antisense oligonucleotides (AONs) that promoted GAA exon 2 ...

Journal: :The Turkish journal of pediatrics 2003
Anil Apak Göknur Haliloğlu Gülşen Köse Engin Yilmaz Banu Anlar Sabiha Aysun

Tuberous sclerosis is an autosomal dominant multisystem disorder characterized by hamartomatous growths in different organs. Disease determining genes are localized to 9q34 (TSC1) and 16p13.3 (TSC2). Two-thirds of the cases are sporadic and result from new mutations. The aim of this study was to determine TSC2 gene mutations by Single Stranded Conformation Polymorphism (SSCP) analysis and direc...

Journal: :Blood 2000
J Rae D Noack P G Heyworth B A Ellis J T Curnutte A R Cross

Chronic granulomatous disease is a rare inherited disorder caused by nonexistent or severely decreased phagocyte superoxide production that results in a severe defect in host defense and consequent predisposition to microbial infection. The enzyme responsible for generating the superoxide, NADPH oxidase, involves at least 5 protein components. The absence of, or a defect in, any 1 of 4 of these...

پایان نامه :وزارت علوم، تحقیقات و فناوری - دانشگاه اراک - دانشکده علوم 1393

فرض کنیم ‎ x ‎ و ‎ ‎y‎ ‎ فضاهای فشرده ی هاوسدورف باشند‏، ‎ ‎a‎ ‎ و ‎ ‎b‎ ‎ به ترتیب جبرهای یکنواخت بر ‎ ‎x‎ ‎ و ‎ ‎y‎ ‎ باشند‏‎a‎_{1}‎‎ ‎ یک زیر مجموعه ی ‎a‎ ‎ باشد و ‎ ‎ ho :‎ ‎a‎_{1} ‎ ightarrow ‎a‎ ‎‏،‎‏‎ ‎‎‎‎‎‏‎‎‎‎‎‎ au :‎ ‎a‎_{1}‎‎ ‎ ightarrow ‎a‎‎ ‎‎‎‏‏، ‎‎‎‎ s‎ :‎ ‎‎a‎_{1}‎‎ ‎ ightarrow ‎b‎‎ ‎ ‎ ‏و ‎ t‎ :‎ ‎‎a‎_{1} ‎ ightarrow b‎‎ ‎ ‎ نگاشت های باشند به طوری که‎$ ho(a‎_{1}‎)‎ ‎ ‎‎ و ‎ a...

Journal: :Journal of biochemistry 2010
Kazuyo Ohe Takuo Watanabe Shin-ichi Harada Seiichi Munesue Yasuhiko Yamamoto Hideto Yonekura Hiroshi Yamamoto

Receptor for advanced glycation endproducts (RAGE) is a cell-surface receptor. The binding of ligands to membrane-bound RAGE (mRAGE) evokes cellular responses involved in various pathological processes. Previously, we identified a novel soluble form, endogenous secretory RAGE (esRAGE) generated by alternative 5' splice site selection in intron 9 that leads to extension of exon 9 (exon 9B). Beca...

Journal: :Asian Pacific journal of cancer prevention : APJCP 2015
Mohammad Forat-Yazdi Hossein Neamatzadeh Mohammad Hasan Sheikhha Masoud Zare-Shehneh Mortaza Fattahi

BACKGROUND To date several common mutations in BRCA1 and BRCA2 associated with breast cancer have been reported in different populations. However, the common BRCA1 and BRCA2 mutations among breast cancer patients in Iran have not been described in detail. MATERIALS AND METHODS To comprehensively assess the frequency and distribution of the most common BRCA1 and BRCA2 mutations in Iranian brea...

Journal: :Diabetes 2005
Kristi Silver Magdalena Tolea Jian Wang Toni I Pollin Flora Yao Braxton D Mitchell

In vitro and in vivo studies suggest a role for betacellulin in islet neogenesis and regeneration. Since abnormalities in beta-cell function play a role in the development of type 2 diabetes, a mutation in the betacellulin gene could potentially contribute to the development of type 2 diabetes. Using RT-PCR, we initially determined that betacellulin was expressed in 9- to 24-week-old human feta...

Journal: :Tumori 2013
Rong-xin Zhang Jin-hai Zhu Jiang Fan Xiao-qi Ji

PURPOSE In a previous study, we found a hyaluronidase 3 (HYAL3) gene mutation in exon 2 at position 188 by genome sequencing in a lung squamous cell carcinoma patient. The mutation results in substitution of serine for alanine. The aim of the study was to screen the HYAL3 gene mutation in Chinese lung squamous cell carcinoma patients and explore the correlation between mutation of HYAL3 with cl...

2017
Kehu Li Jinsong Bao Harold Corke Mei Sun

Rice eating and cooking quality is largely determined by starch physicochemical properties. The diverse accessions in the USDA rice mini-core collection (URMC) facilitate extensive association analysis of starch physicochemical properties with molecular markers specific to starch biosynthesis related genes. To identify significant trait-marker associations that can be utilized in rice breeding ...

نمودار تعداد نتایج جستجو در هر سال

با کلیک روی نمودار نتایج را به سال انتشار فیلتر کنید