Results 31 to 40 of about 1,866,513 (309)

Investigation of the SH3BP2 Gene Mutation in Cherubism [PDF]

open access: yes, 2008
Cherubism is a rare developmental lesion of the jaw that is generally inherited as an autosomal dominant trait. Recent studies have revealed point mutations in the SH3BP2 gene in cherubism patients.
Ahn, Sang-Gun   +5 more
core   +1 more source

The gene encoding flavonol synthase contributes to lesion mimic in wheat

open access: yesCrop Journal
Lesion mimic often exhibits leaf disease-like symptoms even in the absence of pathogen infection, and is characterized by a hypersensitive-response (HR) that closely linked to plant disease resistance.
Tingting Dong   +10 more
doaj   +1 more source

Analysis of EML4-ALK Gene Fusion Mutation in Patients 
with Non-small Cell Lung Cancer

open access: yesChinese Journal of Lung Cancer, 2015
Background and objective Non-small cell lung cancer (NSCLC) is the main type of lung cancer, and the related locus mutation detection research has become a hot direction of molecular targeted therapy, studying on gene mutation status of echinodem ...
Xuzhou WANG, Weisheng CHEN, Yinghao YU
doaj   +1 more source

A case report of congenital bullous ichthyosiform erythroderma caused by a mutation of KRT10 gene

open access: yesPifu-xingbing zhenliaoxue zazhi, 2022
Objective To identify KRT1 and KRT10 gene mutation in a patient with bullous ichthyosiform erythroderma (BCIE). Methods Peripheral bloods of the patient and her families were collected and DNAs were extracted.
Yichuan GAN   +6 more
doaj   +1 more source

Cloning and expression of porcine β1,4 N-acetylgalactosaminyl transferase encoding a new xenoreactive antigen [PDF]

open access: yes, 2014
Xenograft rejection of pigs organs with an engineered mutation in the GGTA-1 gene (GTKO) remains a predominantly antibody mediated process which is directed to a variety of non-Gal protein and carbohydrate antigens.
Byrne, GW   +4 more
core   +2 more sources

Genetic Analysis and Fine Mapping of QTL for the Erect Leaf in Mutant mths29 Induced through Fast Neutron in Wheat

open access: yesBiology
The erect leaf plays a crucial role in determining plant architecture, with its growth and development regulated by genetic factors. However, there has been a lack of comprehensive studies on the regulatory mechanisms governing wheat lamina joint ...
Zhixin Yang   +14 more
doaj   +1 more source

Monogenic signs of susceptibility to ischemic stroke: literature review

open access: yesUkrainian Neurosurgical Journal, 2016
Genetic factors are the important chain in the complex conditions determining the development of ischemic stroke. Mutations have different significance for the risk of its development.
Vitaliy Tsymbaliuk, Iryna Vasileva
doaj   +1 more source

Association between DIAPH1 variant and posterior circulation involvement with Moyamoya disease

open access: yesScientific Reports, 2023
Moyamoya disease (MMD) is a chronic and progressive cerebrovascular stenosis or occlusive disease that occurs near Willis blood vessels. The aim of this study was to investigate the mutation of DIAPH1 in Asian population, and to compare the angiographic ...
Shihao He   +8 more
doaj   +1 more source

European Standard Clinical Practice Guideline and EXPeRT Recommendations for the Diagnosis and Management of Gastroenteropancreatic Neuroendocrine Neoplasms in Children and Adolescents

open access: yesPediatric Blood &Cancer, EarlyView.
ABSTRACT Pediatric gastroenteropancreatic neuroendocrine neoplasms (GEP‐NENs) are extremely rare and clinically heterogeneous. Management has largely been extrapolated from adult practice. This European Standard Clinical Practice Guideline (ESCP), developed by the EXPeRT network in collaboration with adult NEN experts, provides (adult) evidence ...
Michaela Kuhlen   +23 more
wiley   +1 more source

The impact of carbon-ion beam irradiation on the phenotypic and molecular variation of wheat

open access: yesBMC Plant Biology
Background Heavy ion beam irradiation is a potent mutagenic technique for developing new germplasm resources and breeding novel plant varieties. However, the biological effects and molecular variations caused by different dosages of heavy ion beam ...
Huihui Fan   +11 more
doaj   +1 more source

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