نتایج جستجو برای: exon 10

تعداد نتایج: 1036812  

حسان منش, حسنا, شیخ‌الاسلامی, سارا, ظریف یگانه, مرجان, هدایتی, مهدی, کبیری, سمیرا,

Background: Thyroid carcinoma is the most common endocrine malignancy. Medullary thyroid carcinoma (MTC) approximately accounts for 5-10% of all thyroid carcinoma. Nowadays, it is obviously, the mutations in REarranged during transfection (RET) proto-oncogene, especially, mutations in exons 10, 11 and 16 are associated with MTC pathogenesis and occurrence. Thus, early diagnosis of MTC by mutati...

Journal: :گوارش 0
rahim golmohammadi mehdi nikbakhat mansour salehi

background: colorectal cancer (crc) is a common and lethal malignancy worldwide. the incident rate of crc is different in various geographica regions. crc is a multifactorial disease; the factors involved included dietary and genetic factors. p53 gene is the most important tumor suppressor gene which involved in many cancers. the mutation rate in exons 7 and 8 of p53 gene in crc was reported to...

2015
Qiang He Jie Yu Tae-Sung Kim Yoo-Hyun Cho Young-Sang Lee Yong-Jin Park Prasanta K. Subudhi

BADH1 and BADH2 are two homologous genes, encoding betaine aldehyde dehydrogenase in rice. In the present study, we scanned BADHs sequences of 295 rice cultivars, and 10 wild rice accessions to determine the polymorphisms, gene functions and domestication of these two genes. A total of 16 alleles for BADH1 and 10 alleles for BADH2 were detected in transcribed region of cultivars and wild specie...

Journal: :Proceedings of the National Academy of Sciences of the United States of America 2012
Yoshitsugu Aoki Toshifumi Yokota Tetsuya Nagata Akinori Nakamura Jun Tanihata Takashi Saito Stephanie M R Duguez Kanneboyina Nagaraju Eric P Hoffman Terence Partridge Shin'ichi Takeda

Duchenne muscular dystrophy (DMD), the commonest form of muscular dystrophy, is caused by lack of dystrophin. One of the most promising therapeutic approaches is antisense-mediated elimination of frame-disrupting mutations by exon skipping. However, this approach faces two major hurdles: limited applicability of each individual target exon and uncertain function and stability of each resulting ...

Journal: :Human molecular genetics 1998
R A Decker M L Peacock P Watson

The RET proto-oncogene encodes a transmembrane receptor with tyrosine kinase activity. Germline mutations in RET are responsible for a number of inherited diseases. These include the dominantly inherited cancer syndromes multiple endocrine neoplasia types 2A and 2B (MEN 2A and MEN 2B) and familial medullary thyroid carcinoma (FMTC), as well as some cases of familial Hirschsprung disease (HSCR1)...

2017
Lodewijk J.A. Toonen Frank Rigo Haico van Attikum Willeke M.C. van Roon-Mom

Spinocerebellar ataxia type 3 (SCA3) is a currently incurable neurodegenerative disorder caused by a CAG triplet expansion in exon 10 of the ATXN3 gene. The resultant expanded polyglutamine stretch in the mutant ataxin-3 protein causes a gain of toxic function, which eventually leads to neurodegeneration. One important function of ataxin-3 is its involvement in the proteasomal protein degradati...

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