نتایج جستجو برای: mutated dtxa chain

تعداد نتایج: 320291  

Journal: :Bioinformatics 2001
Kurt S. Thorn Andrew A. Bogan

The Alanine Scanning Energetics database (ASEdb) is a searchable database of single alanine mutations in protein-protein, protein-nucleic acid, and protein-small molecule interactions for which binding affinities have been experimentally determined. In cases where structures are available, it contains surface areas of the mutated side chain and links to the PDB entries. It is useful for studyin...

Journal: :Japanese journal of clinical oncology 2003
Genshu Tate Min Li Takao Suzuki Toshiyuki Mitsuya

We employed polymerase chain reaction and DNA sequencing analysis to characterize the PTCH gene in a Japanese nevoid basal cell carcinoma syndrome (NBCCS) patient suffering from meningioma, multiple basal cell carcinoma and epidermal cysts. Direct sequence analyses revealed a novel single base deletion at nucleotide 2613 in exon 16 (2613delC) in one PTCH allele, resulting in the frame shift and...

Journal: :The Journal of Experimental Medicine 2004
Ranjan Sen

Enhancers regulate lineage choice and the developmental timing of antigen receptor gene rearrangements. The transcription factor NF-kappaB has been implicated as a key component of the recombination and transcription activation potential of the immunoglobulin kappa chain gene intronic enhancer. Here, I discuss the implications of the new observation that an NF-kappaB binding site-mutated enhanc...

Journal: :The New England journal of medicine 2016
Adam Ivey Robert K Hills Michael A Simpson Jelena V Jovanovic Amanda Gilkes Angela Grech Yashma Patel Neesa Bhudia Hassan Farah Joanne Mason Kerry Wall Susanna Akiki Michael Griffiths Ellen Solomon Frank McCaughan David C Linch Rosemary E Gale Paresh Vyas Sylvie D Freeman Nigel Russell Alan K Burnett David Grimwade

BACKGROUND Despite the molecular heterogeneity of standard-risk acute myeloid leukemia (AML), treatment decisions are based on a limited number of molecular genetic markers and morphology-based assessment of remission. Sensitive detection of a leukemia-specific marker (e.g., a mutation in the gene encoding nucleophosmin [NPM1]) could improve prognostication by identifying submicroscopic disease...

2006
Stefan Kress Uli-Riidiger Jahn Albrecht Buchmann Peter Bannasch Michael Schwarz

Mutations in the p53 gene are frequent genetic alterations in human hepatocellular carcinomas. We have examined 13 cases of human hepatocellular carcinomas from Germany for the presence of p53 aberrations in exons 4 to 8 of the gene by single-strand conformation polymorphism and restriction fragment-length polymorphism analyses and by sequenc ing of polymerase chain reaction products. Single ba...

Journal: :Cell reports 2016
Nadine Assmann Katja Dettmer Johann M B Simbuerger Carsten Broeker Nadine Nuernberger Kathrin Renner Holly Courtneidge Enriko D Klootwijk Axel Duerkop Andrew Hall Robert Kleta Peter J Oefner Markus Reichold Joerg Reinders

We recently reported an autosomal dominant form of renal Fanconi syndrome caused by a missense mutation in the third codon of the peroxisomal protein EHHADH. The mutation mistargets EHHADH to mitochondria, thereby impairing mitochondrial energy production and, consequently, reabsorption of electrolytes and low-molecular-weight nutrients in the proximal tubule. Here, we further elucidate the mol...

Journal: :Journal of medical genetics 1995
T Kishida F Chen M I Lerman B Zbar

Von Hippel-Lindau disease (VHL) is an inherited disorder characterised by a predisposition to develop tumours in the eyes, central nervous system, kidneys, and adrenal glands. Recently the VHL gene was cloned and shown to be mutated in 75% of US and Canadian VHL families. To develop simple, rapid methods for the detection of mutations found in large numbers of affected people, we designed based...

2015
Atsushi Satomura Kouichi Kuroda Mitsuyoshi Ueda

Rhizopus oryzae lipase (ROL) has a propeptide at its N-terminus that functions as an intramolecular chaperone and facilitates the folding of mature ROL (mROL). In this study, we successfully generated a functionally distinct imprinted mROL (mROLimp) through protein folding memory using a mutated propeptide. The mutated propeptide left its structural memory on mROL and produced mROLimp that exhi...

2017

This is validated by the approval of Agas and Celgene’s enasidenib by the FDA. This drug modulates the metabolism and is used as a medication against acute myelogenous leukemia. Enasidenib is an inhibitor of the mutated isocitrate dehydrogenase (IDH2), one of the main enzymes of the citric acid cycle (also known as Krebs cycle), a central pathway which converts molecules coming from all 3 main ...

A. Mohamadi H. Askari S. Shahbazi, T. Naseripour,

Effects of induced mutation via gamma irradiated with 250 Gy dose (in Nuclear Agriculture Research School- Nuclear Science and Technology Research Institute) on Trichoderma harzianum conidiaon chitinase activity by STS molecular marker have been evaluated in this study. Among 20 irradiated mutants which selected via improved antagonistic capability against Rhizoctonia sola...

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