疾患感受性遺伝子

WordNet

an impairment of health or a condition of abnormal functioning
the state of being susceptible; easily affected (同)susceptibleness
(genetics) a segment of DNA that is involved in producing a polypeptide chain; it can include regions preceding and following the coding DNA as well as introns between the exons; it is considered a unit of heredity; "genes were formerly called factors" (同)cistron, factor
caused by or altered by or manifesting disease or pathology; "diseased tonsils"; "a morbid growth"; "pathologic tissue"; "pathological bodily processes" (同)morbid, pathologic, pathological
informal term for information; "give me the gen on your new line of computers"

PrepTutorEJDIC

(体の)『病気』,疾患 / (精神・道徳などの)病気,病弊
女性の話術芸人 =diseur
〈U〉(…に)(感染し)やすいこと,敏感《+to+名》 / 《複数形で》(傷つきやすい)感情
遺伝子
病気にかかった / 病的な,不健全な(morbid)

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1. アミロイド疾患の遺伝的要因 genetic factors in the amyloid diseases
2. パーキンソン病の病因および発症機序 etiology and pathogenesis of parkinson disease
3. ペリツェウス・メルツバッハー病 pelizaeus merzbacher disease
4. 骨パジェット病の臨床症状および診断 clinical manifestations and diagnosis of paget disease of bone
5. 慢性閉塞性肺疾患：危険因子およびリスク低減 chronic obstructive pulmonary disease risk factors and risk reduction

English Journal

Genetics of dizziness: cerebellar and vestibular disorders.

Requena T, Espinosa-Sanchez JM, Lopez-Escamez JA.Author information aOtology and Neurotology Group CTS495, Human DNA Variability Department, GENYO. Centre for Genomics and Oncological Research (GENyO), Pfizer/University of Granada/Andalusian Regional Government, PTS Granada bDepartment of Otolaryngology, Hospital San Agustin, Linares, Jaen cDepartment of Otolaryngology, Hospital de Poniente, El Ejido, Almería, Spain.AbstractPURPOSE OF REVIEW: Recent advances in next generation sequencing techniques (NGS) are increasing the number of novel genes associated with cerebellar and vestibular disorders. We have summarized clinical and molecular genetics findings in neuro-otolology during the last 2 years.
Current opinion in neurology.Curr Opin Neurol.2014 Feb;27(1):98-104. doi: 10.1097/WCO.0000000000000053.
PURPOSE OF REVIEW: Recent advances in next generation sequencing techniques (NGS) are increasing the number of novel genes associated with cerebellar and vestibular disorders. We have summarized clinical and molecular genetics findings in neuro-otolology during the last 2 years.RECENT FINDINGS: Whol
PMID 24275721

Defining genes using "blueprint" versus "instruction" metaphors: effects for genetic determinism, response efficacy, and perceived control.

Parrott R, Smith RA.Author information a Department of Communication Arts & Sciences and Department of Health Policy & Administration Pennsylvania State University.AbstractEvidence supports mixed attributions aligned with personal and/or clinical control and gene expression for health in this era of genomic science and health care. We consider variance in these attributions and possible relationships to individual mind sets associated with essentialist beliefs that genes determine health versus threat beliefs that genes increase susceptibility for disease and severity linked to gene-environment interactions. Further, we contribute to theory and empirical research to evaluate the use of metaphors to define genes. Participants (N = 324) read a message that varied the introduction by providing a definition of genes that used either an "instruction" metaphor or a "blueprint" metaphor. The "instruction" metaphor compared to the "blueprint" metaphor promoted stronger threat perceptions, which aligned with both belief in the response efficacy of genetic research for health and perceived behavioral control linked to genes and health. The "blueprint" metaphor compared to the "instruction" metaphor promoted stronger essentialist beliefs, which aligned with more intense positive regard for the efficacy of genetic research and human health. Implications for health communicators include societal effects aligned with stigma and discrimination that such findings portend.
Health communication.Health Commun.2014 Feb;29(2):137-46. doi: 10.1080/10410236.2012.729181. Epub 2013 Feb 28.
Evidence supports mixed attributions aligned with personal and/or clinical control and gene expression for health in this era of genomic science and health care. We consider variance in these attributions and possible relationships to individual mind sets associated with essentialist beliefs that ge
PMID 23448621

Clinically Significant Missense Variants in Human GALNT3, GALNT8, GALNT12, and GALNT13 Genes: Intriguing In Silico Findings.

Hussain MR, Nasir J, Al-Aama JY.Author information Princess Al-Jawhara Al Brahim Center of Excellence in Research of Hereditary Disorders, Faculty of Medicine, King Abdulaziz University, Jeddah, Kingdom of Saudi Arabia.AbstractAberrant glycosylation by N-acetylgalactosaminyl transferases (GALNTs) is a well-described pathological alteration that is widespread in hereditary diseases, prominently including human cancers, familial tumoral calcinosis and hyperostosis-hyperphosphatemia. In this study, we integrated different computational tools to perform the in silico analysis of clinically significant mutations (nsSNPs/single amino acid change) at both functional and structural levels, found in human GALNT3, GALNT8, GALNT12, and GALNT13 genes. From function and structure based insights, mutations encoding R162Q, T359K, C574G, G359D, R297W, D303N, Y396C, and D313N substitutions were concordantly predicted highly deleterious for relevant GALNTs proteins. From intriguing findings, T359K-GALNT3 was simulated with high contribution for disease susceptibility (tumor calcinosis) as compared to its partner variant T272K (Ichikawa et al. [2006] J. Clin. Endocrinol. Metab. 91:4472-4475). Similarly, the prediction of high damaging behavior, evolutionary conservation and structural destabilization for C574G were proposed as major contributing factors to regulate metabolic disorder underlying tumor calcinosis and hyperostosis-hyperphosphatemia syndrome. In case of R297W-GALNT12, prediction of highly deleterious effect and disruption in ionic interactions were anticipated with reduction in enzymatic activity, associated with bilateral breast cancer and primary colorectal cancers. The second GALNT12 mutation (D303N)-known splice variant-was predicted with disease severity as a result of decrease in charge density and buried behavior neighboring the catalytic B domain. In the lack of adequate in silico data about systematic characterization of clinically significant mutations in GALNTs genes, current study can be used as a significant tool to interpret the role of GALNTs reaction chemistry in disease-association risks in body. J. Cell. Biochem. 115: 313-327, 2014. © 2013 Wiley Periodicals, Inc.
Journal of cellular biochemistry.J Cell Biochem.2014 Feb;115(2):313-27. doi: 10.1002/jcb.24666.
Aberrant glycosylation by N-acetylgalactosaminyl transferases (GALNTs) is a well-described pathological alteration that is widespread in hereditary diseases, prominently including human cancers, familial tumoral calcinosis and hyperostosis-hyperphosphatemia. In this study, we integrated different co
PMID 24038392

Japanese Journal

Distribution of Moyamoya Disease Susceptibility Polymorphism p.R4810K in RNF213 in East and Southeast Asian Populations

LIU Wanyang,HITOMI Toshiaki,KOBAYASHI Hatasu,HARADA Kouji H.,KOIZUMI Akio
Neurologia medico-chirurgica = 神経外科 52(5), 299-303, 2012-05-15
… Moyamoya disease is an idiopathic vascular disorder of the intracranial arteries. … Ring finger 213 (RNF213) was previously identified as the strongest susceptibility gene for moyamoya disease in East Asian people by a genome-wide linkage analysis and exome analysis. …
NAID 10030314485

Differential Association between HLA and Diffuse Panbronchiolitis in Northern and Southern Chinese

Chen Yu,Kang Jian,Wu Min,Azuma Arata,Zhao Li
Internal Medicine 51(3), 2012
… Background Diffuse panbronchiolitis (DPB) is a progressive inflammatory pulmonary disease that predominately affects East Asians. … Genetic susceptibility to DPB is correlated with the human leukocyte antigens HLA-B54 in Japanese and HLA-A11 in Koreans. … The aim of this study was to investigate the possible association between HLA and disease susceptibility in Chinese patients with DPB. …
NAID 130002061984

Replication of a microsatellite genome-wide association study of Behçet's disease in a Korean population

Horie Yukihiro,Meguro Akira,Kitaichi Nobuyoshi,Lee Eun Bong,Kanda Atsuhiro,Noda Kousuke,Song Yeong Wook,Park Kyung Sook,Namba Kenichi,Ota Masao,Inoko Hidetoshi,Mizuki Nobuhisa,Ishida Susumu,Ohno Shigeaki
Rheumatology 51(6), 983-986, 2012
… Objective: Behcet disease is one of the major etiologies of uveitis causing blindness in Asian countries. … A genome-wide association study identified 6 microsatellite markers as disease susceptibility loci for Japanese patients with Behcet disease. … Association between the 6 reported microsatellite markers (D3S0186i, D6S0014i, D6S0032i, 536G12A, D12S0645i, and D22S0104i) and Behcet disease was analysed. …
NAID 120005133291