WordNet

(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
the 1st letter of the Roman alphabet (同)a
the blood group whose red cells carry the A antigen (同)type_A, group A
informal term for information; "give me the gen on your new line of computers"

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1. ファブリー病：臨床的特徴および診断 fabry disease clinical features and diagnosis
2. ファブリー病：神経症状 fabry disease neurologic manifestations
3. 肥大型心筋症：遺伝子変異および臨床遺伝子検査 hypertrophic cardiomyopathy gene mutations and clinical genetic testing
4. ファブリー病：治療 fabry disease treatment
5. ファブリー病：臨床的特徴、診断、心疾患のマネージメント fabry disease clinical features diagnosis and management of cardiac disease

Functional analysis of bifidobacterial promoters in Bifidobacterium longum and Escherichia coli using the α-galactosidase gene as a reporter(GENETICS, MOLECULAR BIOLOGY, AND GENE ENGINEERING)

Sakanaka Mikiyasu,Tamai Saki,Hirayama Yosuke [他],Onodera Ai,Koguchi Hiroka,Kano Yasunobu,Yokota Atsushi,Fukiya Satoru
Journal of bioscience and bioengineering 118(5), 489-495, 2014-11
… Heterologous gene expression in bifidobacteria requires weak, strong, and inducible promoters depending on the objectives of different expression studies. … Weak promoters in Escherichia coli can also be desirable for stable heterologous gene cloning. … Here, we developed a reporter system using the Bifidobacterium longum α-galactosidase gene and investigated the activity and inducibility of seven bifidobacterial promoters in B. …
NAID 110009894830

高尚均,河野彬子,山野井貴彦,徳永惠子
臨床神経学 54(5), 440-443, 2014
… T2強調画像では信号変化を示さず，Fabry病を示唆するとされているT1-weighted imaging-pulvinar sign（T1 pulvinar sign）を呈していた．若年性脳梗塞の原因としてFabry病をうたがい遺伝子検査を実施したが，α-galactosidase A遺伝子の全エクソンおよびその近傍のイントロン配列に変異をみとめず，Fabry病は否定された．身体表現型異常には乏しかったものの，低身長や稀発月経の存在からTurner症候群を考え染色体検 …
NAID 130004505585

A Mutant mRNA Expression in an Endomyocardial Biopsy Sample Obtained from a Patient with a Cardiac Variant of Fabry Disease Caused by a Novel Acceptor Splice Site Mutation in the Invariant AG of Intron 5 of the α-Galactosidase A Gene

Watanabe Tohru,Hanawa Haruo,Suzuki Tomoyasu,Jiao Shuang,Yoshida Kaori,Ogura Minako,Ohno Yukako,Hayashi Yuka,Ito Masahiro,Kashimura Takeshi,Obata Hiroaki,Sato Akinori,Ozawa Takuya,Kodama Makoto,Sakuraba Hitoshi,Minamino Tohru
Internal Medicine 52(7), 777-780, 2013
… Subsequently, the patient was diagnosed with Fabry disease (FD), which was suspected based on the results of an endomyocardial biopsy and diagnosed following demonstration of deficient α-galactosidase A (GLA) activity. … Molecular studies showed a novel point mutation in the 3' splice site consensus sequence of intron 5 in the gene encoding GLA that created a new splicing site, resulting in the expression of mutant mRNA. …
NAID 130003365972