single-gene defects

WordNet

1. used of flowers having usually only one row or whorl of petals; "single chrysanthemums resemble daisies and may have more than one row of petals"
2. a base hit on which the batter stops safely at first base (同)bingle
3. not divided among or brought to bear on more than one object or objective; "judging a contest with a single eye"; "a single devotion to duty"; "undivided affection"; "gained their exclusive attention" (同)undivided, exclusive
4. existing alone or consisting of one entity or part or aspect or individual; "upon the hill stood a single tower"; "had but a single thought which was to escape"; "a single survivor"; "a single serving"; "a single lens"; "a single thickness"
5. having uniform application; "a single legal code for all"
6. hit a single; "the batter singled to left field"
7. desert (a cause, a country or an army), often in order to join the opposing cause, country, or army; "If soldiers deserted Hitlers army, they were shot" (同)desert
8. an imperfection in an object or machine; "a flaw caused the crystal to shatter"; "if there are any defects you should send it back to the manufacturer" (同)fault, flaw
9. an imperfection in a bodily system; "visual defects"; "this device permits detection of defects in the lungs"
10. a failing or deficiency; "that interpretation is an unfortunate defect of our lack of information" (同)shortcoming
11. to make melodious sounds; "The nightingale was singing"
12. deliver by singing; "Sing Christmas carols"
13. produce tones with the voice; "She was singing while she was cooking"; "My brother sings very well"
14. (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
15. badminton played with one person on each side
16. tennis played with one person on each side

PrepTutorEJDIC

1. 《名詞の前にのみ用いて》『たった一つ』(『一人』)『の』,単独の;《否定文で》ただ一つ(一人)(もない) / 《名詞の前にのみ用いて》『一人用の』・『独身の』・《名詞の前にのみ用いて》個々の,別々の / 単一の,単式の;(花が)一重咲きの,単弁の / 《英》(切符が)片道の / 〈C〉一人,1個;独身者 / 〈C〉《話》(ホテルの部屋,船室,列車寝台などの)一人用 / 〈C〉(野球で)シングルヒット,単打 / 《複数形で》(テニスなどの)シングルスの試合,単試合 / 《英》片道切符 / 《複数形で》《話》1ドル(ポンド)札 / …‘を'1人(1個)だけ選び出す《+『out』+『名,』+『名』+『out』》 / (野球で)シングルヒットを打つ
2. 〈C〉『欠点』,弱点,欠陥 / 〈U〉〈C〉《古》不足,欠乏 / (国・党・主義などから)離脱する,裏切って出る《+『from』+『名』》;離反して(…に)転向する《+『to』+『名』》
3. 『歌う』;(…に)歌って聞かせる《+『to』(『for』)+『名』》;(楽器に合わせて)歌う《+『to』+『名』》・〈小鳥・虫などが〉『鳴く』,さえずる / 《文》(…を)詩(歌)にする,(詩(歌)を詠んで)賛美する《+『of』+『名』》・〈小川・風・弾丸・湯沸かし・耳などが〉歌うように鳴る・《米語》自白する;密告する・〈歌〉‘を'歌う・《副詞[句]を伴って》歌って…‘を'(…に)する・…‘を'唱える,詠唱する・《文》…‘を'詩(歌)にする,(詩(歌)に詠んで)賛美する・合唱の集い
4. 遺伝子

UpToDate Contents

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• 1. 肥満の病因 pathogenesis of obesity
• 2. 先天異常の遺伝学的および環境的原因 genetic and environmental causes of birth defects
• 3. 先天性性腺刺激ホルモン放出ホルモン欠乏症（特発性低ゴナドトロピン性性腺機能低下） congenital gonadotropin releasing hormone deficiency idiopathic hypogonadotropic hypogonadism
• 4. 原発性免疫不全症に対する遺伝子治療 gene therapy for primary immunodeficiency
• 5. 大腸癌の分子遺伝学 molecular genetics of colorectal cancer

English Journal

• SLC45A2 mutation frequency in Oculocutaneous Albinism Italian patients doesn't differ from other European studies.

• Mauri L, Barone L, Al Oum M, Del Longo A, Piozzi E, Manfredini E, Stanzial F, Benedicenti F, Penco S, Patrosso MC.SourceMedical Genetics Unit, Niguarda Ca' Granda Hospital, Milan, Italy.
• Gene.Gene.2014 Jan 1;533(1):398-402. doi: 10.1016/j.gene.2013.09.053. Epub 2013 Oct 3.
• BACKGROUND: Oculocutaneous Albinism (OCA) is a heterogeneous group of inherited diseases involving hair, skin and eyes. To date, six forms are recognized on the effects of different melanogenesis genes. OCA4 is caused by mutations in SLC45A2 showing a heterogeneous phenotype ranging from white hair,
• PMID 24096233

• Chromosome 17p13.3 deletion syndrome: aCGH characterization, prenatal findings and diagnosis, and literature review.

• Chen CP, Chang TY, Guo WY, Wu PC, Wang LK, Chern SR, Wu PS, Su JW, Chen YT, Chen LF, Wang W.SourceDepartment of Obstetrics and Gynecology, Mackay Memorial Hospital, Taipei, Taiwan; Department of Medical Research, Mackay Memorial Hospital, Taipei, Taiwan; Department of Biotechnology, Asia University, Taichung, Taiwan; School of Chinese Medicine, College of Chinese Medicine, China Medical University, Taichung, Taiwan; Institute of Clinical and Community Health Nursing, National Yang-Ming University, Taipei, Taiwan; Department of Obstetrics and Gynecology, School of Medicine, National Yang-Ming University, Taipei, Taiwan. Electronic address: cpc_mmh@yahoo.com.
• Gene.Gene.2013 Dec 10;532(1):152-9. doi: 10.1016/j.gene.2013.09.044. Epub 2013 Sep 19.
• We report a molecular cytogenetic characterization of 17p13.3 deletion syndrome by array comparative genomic hybridization (aCGH), fluorescence in situ hybridization (FISH) and quantitative polymerase chain reaction (qPCR) in a fetus with lissencephaly, corpus callosum dysgenesis, ventriculomegaly,
• PMID 24055730

Japanese Journal

• Complementation of a Defect in the Asparagine-Linked Glycosylation of a Mouse FM3A Mutant G258 Cell Line by Spheroplast Fusion of a Human Mega YAC Clone 923f5

• Bioscience, biotechnology, and biochemistry 76(1), 108-114, 2012-01-23
• NAID 10030398673

• 繊毛病

• 日本小児腎臓病学会雑誌 25(2), 127-131, 2012
• NAID 130003346839

• Regulation of Complex Brain Wiring via Diverse Ig Receptor Arising from a Single Gene

• Journal of Oral Biosciences 52(4), 378-387, 2010
• NAID 130004475723

Related Links

• Single gene defect or mutation - Accueil/Home

Diseases exist, though, that are not inherited in accordance with Mendel's laws. To these belong defects of the mitochondrial genome as well as illnesses that are due to alterations of various genes (polygeny) or in which ...

• Single Gene Genetic Disorder - Health News and Information ...

... we refer to it as a single gene genetic disorder or a Mendelian disorder Types of single gene disorders The occurrence of a disease caused by a single gene mutation may occur in several main patterns or modes. These are ...

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関連記事	「defect」「single」「sing」

「defect」

　　[★]

• n.

• 欠損、欠損症、異常、欠陥、欠点

関

aberrant、aberrantly、aberration、abnormal、abnormality、abnormally、absence、agenesis、anomalous、anomalously、anomaly、defective、deficiency、deficient、deficit、deletion、deletional、deviant、drawback、extraordinarily、extraordinary、fault、flaw、inadequacy、miss、missing、morphological defect、shortcoming、unusual、unusually、weakness

　 　 　 　 　

「single」

　　[★]

• adj.

• 単一の、一回の、単、(薬物投与)単回の

• n.

• 個人、選抜する

関

individual、mono、private、select、simple、unity

　 　 　 　 　 　 　

「sing」

　　[★]

• v.

• 歌う

過去sang-過去分詞sung