نتایج جستجو برای: genetic defect

تعداد نتایج: 700108  

Journal: :veterinary research forum 2014
reza kheirandish mehdi saberi dariush vosough nasrin askari

a one-month-old male terrier dog was referred in shock status with a history of anorexia, tachypnea, abdominal distention and progressive weight loss. auscultation of right side of the lungs found enhanced respiratory noises. the thorough auscultation of the opposite side of the chest revealed the presence of typical intestinal sounds. cardiac auscultation revealed muffled heart sounds and a di...

Anbiaee, Najme , Ebrahimi, Saeede , Sahebnasagh, Zoha , Ebrahimnejad, Hamed , Mohammadzade Rezaie, Maryam ,

Parotid Stafne bone defect is a very rare and infrequent variant, which is located on the buccal or lingual surface of the mandibular ascending ramus. In this paper, a case of parotid Stafne defect, which was incidentally discovered during dental radiographic examination, is reported. This bone defect was observed as a lucent oval-shaped defect on the lingual aspect of the right mandibu...

Journal: :journal of applied research in water and wastewater 2014
matthieu dufresne jose vazquez

venturi flumes are measurement structures commonly used in water systems to measure the flow discharge. some of them are not well installed or present some geometrical defects. the objective of this study is to investigate the hydraulic influence of a number of typical wrong installations and geometrical defects of long-throated venturi flumes: significant positive or adverse slopes, humps and ...

Journal: :physical chemistry research 2015
salimeh kimiagar ali rajabpour fatemeh tavazoee

graphene sheet including single vacancy, double vacancy and stone-wales with armchair and zigzag structure was simulated using molecular dynamics simulation. the effect of defects on shear’s modulus, shear strength and fracture  strain was investigated. results showed that these shear properties reduce when the degrees of all kinds of defects increase. the dangling bond in sv and dv defected gr...

2012
Erica A. Moehle Colm J. Ryan Nevan J. Krogan Tracy L. Kress Christine Guthrie

Eukaryotic gene expression involves tight coordination between transcription and pre-mRNA splicing; however, factors responsible for this coordination remain incompletely defined. Here, we explored the genetic, functional, and biochemical interactions of a likely coordinator, Npl3, an SR-like protein in Saccharomyces cerevisiae that we recently showed is required for efficient co-transcriptiona...

Journal: :Genetics and molecular research : GMR 2011
J Wang X Y Liu Y Q Yang

Congenital heart disease (CHD) is the most common birth defect and is the leading cause of infant morbidity and mortality resulting from birth defects. Increasing evidence demonstrates that genetic variation in the NKX2-5 gene, which encodes a homeobox-containing transcription factor crucial to cardiogenesis, is an important molecular determinant for CHD. Nevertheless, the genetic compone...

Journal: :The Journal of Experimental Medicine 1980
G Strassmann Z Eshhar E Mozes

The intercellular interactions and the site of the genetic defect in delayed-type hypersensitivity (DTH) response to poly(LTyr,LGlu)-poly(DLAla)--poly(LLys) [(T,G)-A--L] has been studied in a system where the T-cell education phase was separated from the efferent phase. In the cellular response, T-T-cell collaboration is required, because T cell-depleted mice were unable to manifest DTH respons...

Journal: :Proceedings of the National Academy of Sciences of the United States of America 1976
T J Goka R E Stevenson P M Hefferan R R Howell

Cultured skin fibroblasts from patients with Menkes disease, an X-linked disorder involving a defect in copper metabolism, were analyzed for copper concentration by means of atomic absorption spectrophotometry. These cultures consistently exhibited elevated copper concentrations (mean = 335.5 ng of copper per mg of protein) when compared to control fibroblast cultures (mean = 59.2 ng of copper ...

Journal: :Developmental biology 2016
Leslie A Lyons Carolyn A Erdman Robert A Grahn Michael J Hamilton Michael J Carter Christopher R Helps Hasan Alhaddad Barbara Gandolfi

Frontonasal dysplasia (FND) can have severe presentations that are medically and socially debilitating. Several genes are implicated in FND conditions, including Aristaless-Like Homeobox 1 (ALX1), which is associated with FND3. Breeds of cats are selected and bred for extremes in craniofacial morphologies. In particular, a lineage of Burmese cats with severe brachycephyla is extremely popular a...

Journal: :Social Science Research Network 2021

Analysis of large scale human genomic data has yielded unexplained mutations known to cause severe disease in healthy individuals. Here we report the unexpected recovery a rare dominant lethal mutation TPM1, sarcomeric actin-binding protein, 8 individuals with atrial septal defect (ASD) 5-generation pedigree. Mice TPM1 exhibited early embryonic lethality disrupted myofibril assembly and no hear...

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