Opitz-Frias syndrome

オピッツ症候群

WordNet

1. a pattern of symptoms indicative of some disease
2. a complex of concurrent things; "every word has a syndrome of meanings"

PrepTutorEJDIC

1. (疾患の徴候となる一群の)症徴候,症候群 / (事件・社会的状態などのパターンを示す)徴候形態

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• 1. ダウン症の母体血清スクリーニングに関する臨床検査の問題 laboratory issues related to maternal serum screening for down syndrome
• 2. 非免疫性胎児水腫 nonimmune hydrops fetalis
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English Journal

• Protein phosphatase 2A (PP2A)-specific ubiquitin ligase MID1 is a sequence-dependent regulator of translation efficiency controlling 3-phosphoinositide-dependent protein kinase-1 (PDPK-1).

• Aranda-Orgillés B, Rutschow D, Zeller R, Karagiannidis AI, Köhler A, Chen C, Wilson T, Krause S, Roepcke S, Lilley D, Schneider R, Schweiger S.SourceMax-Planck Institute for Molecular Genetics, Ihnestrasse 73, 14195 Berlin, Germany.
• The Journal of biological chemistry.J Biol Chem.2011 Nov 18;286(46):39945-57. Epub 2011 Sep 19.
• We have shown previously that the ubiquitin ligase MID1, mutations of which cause the midline malformation Opitz BBB/G syndrome (OS), serves as scaffold for a microtubule-associated protein complex that regulates protein phosphatase 2A (PP2A) activity in a ubiquitin-dependent manner. Here, we show t
• PMID 21930711

• Control of mTORC1 signaling by the Opitz syndrome protein MID1.

• Liu E, Knutzen CA, Krauss S, Schweiger S, Chiang GG.SourceSignal Transduction Program, Sanford-Burnham Medical Research Institute, La Jolla, CA 92037, USA.
• Proceedings of the National Academy of Sciences of the United States of America.Proc Natl Acad Sci U S A.2011 May 24;108(21):8680-5. Epub 2011 May 9.
• Mutations in the MID1 gene are causally linked to X-linked Opitz BBB/G syndrome (OS), a congenital disorder that primarily affects the formation of diverse ventral midline structures. The MID1 protein has been shown to function as an E3 ligase targeting the catalytic subunit of protein phosphatase 2
• PMID 21555591

Japanese Journal

• The G Syndrome/Opitz oculo-genital-laryngeal syndrome/Opitz BBB/G syndrome/Opitz-Frias syndrome.

• CONLON BJ
• J Laryngol Otol 109, 244-246, 1995
• NAID 30030750213

Related Links

• Opitz-Frias syndrome - Conditions - GTR - NCBI

X-linked Opitz G/BBB syndrome (XLOS) is a multiple congenital anomaly disorder characterized by facial anomalies (ocular hypertelorism, prominent forehead, widow's peak, broad nasal bridge, anteverted nares ...

• Opitz Frias Syndrome? - Ask.com

Opitz Frias syndrome affects a wide number of areas within the human body, but are mostly found in the gastrointestinal region. Males may also experience issues ... What does Smith-Lemli-Opitz syndrome affect in the body? smith ...

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★リンクテーブル★

リンク元	「オピッツ症候群」
関連記事	「syndrome」

「オピッツ症候群」

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英

Opitz syndrome

同

オピッツ・フリアス症候群 Opitz-Frias syndrome、両眼開離尿道下裂症 telecanthus hypospadias、Opitz oculo-genito-laryngeal syndrome

• Opitz syndrome , Opitz-Frias syndrome a familial syndrome consisting of hypertelorism and hernias, and in males also characterized by hypospadias, cryptorchidism, and bifid scrotum. Cardiac, laryngotracheal, pulmonary, anal, and renal abnormalities may also be present.

「syndrome」

　　[★]

• n.

• 症候群