نتایج جستجو برای: relative mutation dosage

تعداد نتایج: 763656  

2012
Chung-Ping Yu Chi-Sheng Shia Shang-Yuan Tsai Yu-Chi Hou

Gegen-Qinlian-Tang (GQT), a popular Chinese medicine prescription, consists of Puerariae Radix, Scutellariae Radix, Coptidis Rhizoma, and Glycyrrhizae Radix. This study investigated the pharmacokinetics of GQT in rats and compared the bioavailability between two dosage forms, that is, traditional decoction (TD) and concentrated powder (CP). Rats were given TD and CP of GQT in a crossover design...

2017
Liuqi Gu James R. Walters Douglas C. Knipple

Where previously described, patterns of sex chromosome dosage compensation in the Lepidoptera (moths and butterflies) have several unusual characteristics. Other female-heterogametic (ZW/ZZ) species exhibit female Z-linked expression that is reduced compared with autosomal expression and male Z expression. In the Lepidoptera, however, Z expression typically appears balanced between sexes but ov...

Journal: :American journal of neurodegenerative disease 2012
Roberta Ghidoni Anna Paterlini Luisa Benussi

Progranulin is a growth factor involved in the regulation of multiple processes including tumorigenesis, wound repair, development, and inflammation. The recent discovery that mutations in the gene encoding for progranulin (GRN) cause frontotemporal lobar degeneration (FTLD), and other neurodegenerative diseases leading to dementia, has brought renewed interest in progranulin and its functions ...

Journal: :Human molecular genetics 1999
H Hao L E Morrison C T Moraes

We previously have characterized a pathogenic mtDNA mutation in the tRNAAsn gene. This mutation (G5703A) was associated with a severe mitochondrial protein synthesis defect and a reduction in steady-state levels of tRNAAsn. We now show that, although transmitochondrial cybrids harboring homoplasmic levels of the mutation do not survive in galactose medium, several galactose-resistant clones cou...

Journal: :Genetics 1987
R K Herman

The mutation mec-4(e 1611), identified by M. Chalfie, leads to the degeneration and death of the six neurons, called the microtubule cells, that mediate the response of wild-type animals to light touch. The fates of two of these cells, PLML and PLMR, which are responsible for response to light touch in the tail of the animal, have been monitored in animals mosaic for the mec-4(e 1611) mutation....

2016
Bayly S Wheeler Erika Anderson Christian Frøkjær-Jensen Qian Bian Erik Jorgensen Barbara J Meyer

Changes in chromosome number impair fitness by disrupting the balance of gene expression. Here we analyze mechanisms to compensate for changes in gene dose that accompanied the evolution of sex chromosomes from autosomes. Using single-copy transgenes integrated throughout the Caenorhabditis elegans genome, we show that expression of all X-linked transgenes is balanced between XX hermaphrodites ...

Journal: :iranian journal of neurology 0
hossein ali ebrahimi professor, neurology research center, kerman university of medical sciences, kerman, iran. faridadin ebrahimi resident of surgery, neurology research center, kerman university of medical sciences, kerman, iran

#no abstract#

Journal: :Human mutation 2016
Thomas Smith Gladys Ho John Christodoulou Elizabeth Ann Price Zerrin Onadim Marion Gauthier-Villars Catherine Dehainault Claude Houdayer Beatrice Parfait Rick van Minkelen Dietmar Lohman Adam Eyre-Walker

We have investigated whether the mutation rate varies between genes and sites using de novo mutations (DNMs) from three genes associated with Mendelian diseases (RB1, NF1, and MECP2). We show that the relative frequency of mutations at CpG dinucleotides relative to non-CpG sites varies between genes and relative to the genomic average. In particular we show that the rate of transition mutation ...

2000
Harry L. A. Janssen Johan R. Meinardi Frank P. Vleggaar Stan H. M. van Uum Elizabeth B. Haagsma Felix J. M. van der Meer Jan van Hattum Robert A. F. M. Chamuleau Rob P. Adang Jan P. Vandenbroucke Bart van Hoek Frits R. Rosendaal

In a collaborative multicenter case-control study, we investigated the effect of factor V Leiden mutation, prothrombin gene mutation, and inherited deficiencies of protein C, protein S, and antithrombin on the risk of Budd-Chiari syndrome (BCS) and portal vein thrombosis (PVT). We compared 43 BCS patients and 92 PVT patients with 474 population-based controls. The relative risk of BCS was 11.3 ...

نمودار تعداد نتایج جستجو در هر سال

با کلیک روی نمودار نتایج را به سال انتشار فیلتر کنید