- hereditary pattern
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- 1. 単一遺伝子性疾患の非メンデル遺伝のパターン non mendelian inheritance patterns of monogenic diseases
- 2. メンデル遺伝の概要 overview of mendelian inheritance
- 3. 先天異常の遺伝学的および環境的原因 genetic and environmental causes of birth defects
- 4. 複合形質の遺伝の原則 principles of complex trait genetics
- 5. 遺伝性疾患の基本原則 basic principles of genetic disease
- The human microbiome and autoimmunity.
- Proal AD, Albert PJ, Marshall TG.SourceaAutoimmunity Research Foundation, Sunnyside, New York bWeill Cornell Medical College, New York, USA cMurdoch University, Murdoch, Australia.
- Current opinion in rheumatology.Curr Opin Rheumatol.2013 Mar;25(2):234-240.
- PURPOSE OF REVIEW: To demonstrate how dysbiosis of the human microbiome can drive autoimmune disease.RECENT FINDINGS: Humans are superorganisms. The human body harbors an extensive microbiome, which has been shown to differ in patients with autoimmune diagnoses. Intracellular microbes slow innate im
- PMID 23370376
- Transgenerational epigenetic effects on brain functions.
- Bohacek J, Gapp K, Saab BJ, Mansuy IM.SourceBrain Research Institute, University of Zurich/Swiss Federal Institute of Technology, Zurich, Switzerland.
- Biological psychiatry.Biol Psychiatry.2013 Feb 15;73(4):313-20. doi: 10.1016/j.biopsych.2012.08.019. Epub 2012 Oct 9.
- Psychiatric diseases are multifaceted disorders with complex etiology, recognized to have strong heritable components. Despite intense research efforts, genetic loci that substantially account for disease heritability have not yet been identified. Over the last several years, epigenetic processes ha
- PMID 23062885
- Focal facial dermal dysplasia, type IV, is caused by mutations in CYP26C1.
- Slavotinek AM, Mehrotra P, Nazarenko I, Tang PL, Lao R, Cameron D, Li B, Chu C, Chou C, Marqueling AL, Yahyavi M, Cordoro K, Frieden I, Glaser T, Prescott T, Morren MA, Devriendt K, Kwok PY, Petkovich M, Desnick RJ.AbstractFocal facial dermal dysplasia (FFDD) Type IV is a rare syndrome characterized by facial lesions resembling aplasia cutis in a preauricular distribution along the line of fusion of the maxillary and mandibular prominences. To identify the causative gene(s), exome sequencing was performed in a family with two affected siblings. Assuming autosomal recessive inheritance, two novel sequence variants were identified in both siblings in CYP26C1-a duplication of seven base pairs, which was maternally inherited, c.844_851dupCCATGCA, predicting p.Glu284fsX128 and a missense mutation, c.1433G>A, predicting p.Arg478His, that was paternally inherited. The duplication predicted a frameshift mutation that led to a premature stop codon and premature chain termination, whereas the missense mutation was not functional based on its in vitro expression in mammalian cells. The FFDD skin lesions arise along the sites of fusion of the maxillary and mandibular prominences early in facial development, and Cyp26c1 was expressed exactly along the fusion line for these facial prominences in the first branchial arch in mice. Sequencing of four additional, unrelated Type IV FFDD patients and eight Type II or III TWIST2-negative FFDD patients revealed that three of the Type IV patients were homozygous for the duplication, whereas none of the Type II or III patients had CYP26C1 mutations. The seven base pairs duplication was present in 0.3% of healthy controls and 0.3% of patients with other birth defects. These findings suggest that the phenotypic manifestations of FFDD Type IV can be non-penetrant or underascertained. Thus, FFDD Type IV results from the loss of function mutations in CYP26C1.
- Human molecular genetics.Hum Mol Genet.2013 Feb 15;22(4):696-703. doi: 10.1093/hmg/dds477. Epub 2012 Nov 16.
- Focal facial dermal dysplasia (FFDD) Type IV is a rare syndrome characterized by facial lesions resembling aplasia cutis in a preauricular distribution along the line of fusion of the maxillary and mandibular prominences. To identify the causative gene(s), exome sequencing was performed in a family
- PMID 23161670
- Role of metabotropic glutamate receptor 7 in autism spectrum disorders: A pilot study.
- Yang Y, Pan C.SourceShanghai Children's Medical Center of Shanghai Jiao Tong University School of Medicine, Shanghai Key Laboratory of Children's Environmental Health, Shanghai, China. Electronic address: firstname.lastname@example.org.
- Life sciences.Life Sci.2013 Feb 7;92(2):149-53. doi: 10.1016/j.lfs.2012.11.010. Epub 2012 Nov 28.
- AIMS: The presence of genetic variants for autism spectrum disorders (ASDs) was investigated for the metabotropic glutamate receptor 7 (GRM7) gene in a case-control study.MAIN METHODS: Employing Affymetrix SNP microarrays, 297 single nucleotide polymorphisms (SNPs) covering the GRM7 gene were select
- PMID 23201551
- 菅野 悟
- 北海道教育大学紀要. 人文科学・社会科学編 64(1), 77-92, 2013-09-00
- NAID 120005317631
- 菅野 悟
- 北海道教育大学紀要. 人文科学・社会科学編 64(1), 77-92, 2013-09-00
- NAID 110009605370
- 伊藤 栄寿
- 名古屋大學法政論集 250, 155-181, 2013-07-18
- NAID 110009599019
- Production of androgenetic diploid loach by cold-shock of eggs fertilized with diploid sperm
- Hou Jilun,Fujimoto Takafumi,Yamaha Etsuro,Arai Katsutoshi
- Theriogenology 80(2), 125-130, 2013-07-15
- … Five independent microsatellite DNA markers were genotyped to confirm all-male inheritance of the resultant diploid larvae. …
- NAID 120005311813
- inheritanceとは。意味や和訳。[名]1 [U][C]相続[継承]物件，相続財産；（先祖・前代などから）受け継いだもの（ 文語的なheritageと比べて一般的な語）a quarrel over an inheritance遺産争いcome into one's inheritance相続する.2 [U ...
- The Quran introduced a number of different rights and restrictions on matters of inheritance, including general improvements to the treatment of women and family life compared to the pre-Islamic societies that existed in the Arabian ...
- 1. patrimony; bequest. Inheritance, heritage denote something inherited. Inheritance is the common term for property or any possession that comes to an heir: He received the farm as an inheritance from his parents. Heritage ...
|拡張検索||「disinheritance」「theory of inheritance」「extranuclear inheritance」「Mendelian inheritance」|
- genetic endowment