PDS gene mutation

PDS遺伝子変異

WordNet

1. (genetics) any event that changes genetic structure; any alteration in the inherited nucleic acid sequence of the genotype of an organism (同)genetic mutation, chromosomal_mutation
2. a change or alteration in form or qualities
3. (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
4. the 16th letter of the Roman alphabet (同)p
5. informal term for information; "give me the gen on your new line of computers"

PrepTutorEJDIC

1. 変化,俸転 / (生物の)突然変異;その変種
2. 遺伝子
3. parking
4. phosphorusの化学記号

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English Journal

• A novel de novo mutation of SCN8A (Nav1.6) with enhanced channel activation in a child with epileptic encephalopathy.

• Estacion M1, O'Brien JE2, Conravey A3, Hammer MF4, Waxman SG1, Dib-Hajj SD5, Meisler MH6.
• Neurobiology of disease.Neurobiol Dis.2014 May 27;69C:117-123. doi: 10.1016/j.nbd.2014.05.017. [Epub ahead of print]
• Rare de novo mutations of sodium channels are thought to be an important cause of sporadic epilepsy. The well established role of de novo mutations of sodium channel SCN1A in Dravet Syndrome supports this view, but the etiology of many cases of epileptic encephalopathy remains unknown. We sought to
• PMID 24874546

• PRRT2 mutations: exploring the phenotypical boundaries.

• Djémié T1, Weckhuysen S, Holmgren P, Hardies K, Van Dyck T, Hendrickx R, Schoonjans AS, Van Paesschen W, Jansen AC, De Meirleir L, Selim LA, Girgis MY, Buyse G, Lagae L, Smets K, Smouts I, Claeys KG, Van den Bergh V, Grisar T, Blatt I, Shorer Z, Roelens F, Afawi Z, Helbig I, Ceulemans B, De Jonghe P, Suls A.
• Journal of neurology, neurosurgery, and psychiatry.J Neurol Neurosurg Psychiatry.2014 Apr;85(4):462-5. doi: 10.1136/jnnp-2013-305122. Epub 2013 Oct 7.
• BACKGROUND: Mutations in the proline-rich transmembrane protein 2 (PRRT2) gene have been identified in patients with benign (familial) infantile convulsions (B(F)IC), infantile convulsions with choreoathetosis (ICCA) and paroxysmal dyskinesias (PDs). However it remains unknown whether PRRT2 mutation
• PMID 24101679

• Analysis of the thyroid phenotype in 42 patients with Pendred syndrome and nonsyndromic enlargement of the vestibular aqueduct.

• Ladsous M1, Vlaeminck-Guillem V, Dumur V, Vincent C, Dubrulle F, Dhaenens CM, Wémeau JL.
• Thyroid : official journal of the American Thyroid Association.Thyroid.2014 Apr;24(4):639-48. doi: 10.1089/thy.2013.0164. Epub 2014 Jan 20.
• BACKGROUND: Pendred syndrome (PS), a recessive disorder caused by mutations in the SLC26A4 (PDS) gene, is associated with deafness and goiter. SLC26A4 mutations have also been identified in patients exhibiting isolated sensorineural hearing loss without apparent thyroid abnormality (nonsyndromic enl
• PMID 24224479

Japanese Journal

• 長期にわたり聴力経過観察をした前庭水管拡大症の2症例

• 石橋 康子,山岨 達也,宇佐美 真一,阿部 聡子,加我 君孝
• Otology Japan 13(1), 57-61, 2003-02-25
• … He was found to have a mutation in the chromosome 7q31.<BR>The second case was a 21-year-old women and she had been observed for 14 years. …
• NAID 10026920363

• 前庭水管拡大を伴った小児難聴症例 : 遺伝的背景から新たなPDS遺伝子変異が確認された1家系

• 清水 謙祐,坪井 康浩,東野 哲也,小宗 静男,阿部 聡子,新川 秀一,塚本 耕二,宇佐美 真一
• 日本耳鼻咽喉科學會會報 105(2), 174-177, 2002-02-20
• … 前庭水管拡大症 (EVA) は感音難聴とめまいをきたす内耳奇形の一種であり, 近年その原因として<I>PDS</I>遺伝子の関与が注目されている. … 遺伝的な背景を考慮してこの家系の<I>PDS</I>遺伝子変異を検索したところ, 2種類の新たな<I>PDS</I>遺伝子変異 (S610X, S657N) が確認された. …
• NAID 10008382527

• Ｐｅｎｄｒｅｄ症候群における難聴の長期経過

• 工藤 睦男,野村 恭也,小林 一女,洲崎 春海
• AUDIOLOGY JAPAN 45(3), 258-264, 2002
• … これらの症例は全て女性で, 解析のできた3症例全てにPDS遺伝子変異がみとめられ, 画像により4症例全例に両側の前庭水管拡大がみとめられた。 …
• NAID 130003713221

Related Links

• Mutations of the PDS Gene, Encoding Pendrin, Are ...

The syndrome is caused by mutations in the PDS (SLC26A4) gene, encoding an anion transporter pendrin, which localizes to the apical membrane of thyroid follicular cells. PDS is thought to enable efflux iodide into the follicle lumen. More than 50 diseases causing mutations of PDS have been reported.

• Identification of two different mutations in the PDS gene in an ...

Recently the gene responsible for Pendred syndrome (PDS) was isolated and several mutations in the PDS gene have been identified in Pendred patients. Here we report the occurrence of two different PDS mutations in an extended inbred Turkish family.

• Identification of two different mutations in the PDS gene in an ...

The latter mutation has been found previously in two Pendred families originating from The Netherlands, indicating that the 1558T→G mutation may be a common mutation. Keywords: PDS gene; Pendred syndrome

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★リンクテーブル★

リンク元	「PDS遺伝子変異」
関連記事	「PD」「PDS」「P」

「PDS遺伝子変異」

　　[★]

英

PDS gene mutation

関

PDS遺伝子

「PD」

　　[★]

• disease progression
• 腹膜透析 peritoneal dialysis
• 膵頭十二指腸切除術 pancreaticoduodenectomy
• peritoneal dialysis catheters
• 経皮的椎間板切除術 percutaneous discectomy percutaneous diskectomy
• プリズムジオプトリー prism diopter
• パーキンソン病 Parkinson disease

「PDS」

　　[★]

• 発作性脱分極変位 paroxysmal depolarizing shift
• 食後愁訴症候群 postprandial distress syndrome

「P」

　　[★]

• プロリン proline
• P波 P wave
• リン phosphorus