RISS 학술연구정보서비스

검색
자동완성 버튼
다국어입력
다국어 입력
あ ぁ か が さ ざ た だ な は ば ぱ ま や ゃ ら わ ゎ ん い ぃ き ぎ し じ ち ぢ に ひ び ぴ み り う ぅ く ぐ す ず つ づ っ ぬ ふ ぶ ぷ む ゆ ゅ る え ぇ け げ せ ぜ て で ね へ べ ぺ め れ お ぉ こ ご そ ぞ と ど の ほ ぼ ぽ も よ ょ ろ を
ア ァ カ サ ザ タ ダ ナ ハ バ パ マ ヤ ャ ラ ワ ヮ ン イ ィ キ ギ シ ジ チ ヂ ニ ヒ ビ ピ ミ リ ウ ゥ ク グ ス ズ ツ ヅ ッ ヌ フ ブ プ ム ユ ュ ル エ ェ ケ ゲ セ ゼ テ デ ヘ ベ ペ メ レ オ ォ コ ゴ ソ ゾ ト ド ノ ホ ボ ポ モ ヨ ョ ロ ヲ ―

http://chineseinput.net/에서 pinyin(병음)방식으로 중국어를 변환할 수 있습니다.

변환된 중국어를 복사하여 사용하시면 됩니다.

예시)
  • 中文 을 입력하시려면 zhongwen을 입력하시고 space를누르시면됩니다.
  • 北京 을 입력하시려면 beijing을 입력하시고 space를 누르시면 됩니다.
ㅥ ㅦ ㅧ ㅨ ㅩ ㅪ ㅫ ㅬ ㅭ ㅮ ㅯ ㅰ ㅱ ㅲ ㅳ ㅴ ㅵ ㅶ ㅷ ㅸ ㅹ ㅺ ㅻ ㅼ ㅽ ㅾ ㅿ ㆀ ㆁ ㆂ ㆃ ㆄ ㆅ ㆆ ㆇ ㆈ ㆉ ㆊ ㆋ ㆌ ㆍ ㆎ
Α Β Γ Δ Ε Ζ Η Θ Ι Κ Λ Μ Ν Ξ Ο Π Ρ Σ Τ Υ Φ Χ Ψ Ω α β γ δ ε ζ η θ ι κ λ μ ν ξ ο π ρ σ τ υ φ χ ψ ω
á à Á À é è É È ç Ç ê
Ä Ö Ü ä ö ü ß
ְ ֳ ֲ ֱ ָ ַ ֵ ֶ ִ ֹ ּ ֻ ׂ ׁ ּ פ ם ן ו ט א ר ק ף ך ל ח י ע כ ג ד ש ץ ת צ מ נ ה ב
‘ ’ “ ” 〔 〕 〈 〉 「 」 『 』 【 】 ＂ （ ） ［ ］ ｛ ｝
± × ÷ ≠ ≤ ≥ ∞ ∴ ♂ ♀ ∠ ⊥ ⌒ ∂ ∇ ≡ ≒ ≪ ≫ √ ∽ ∝ ∵ ∫ ∬ ∈ ∋ ⊆ ⊇ ⊂ ⊃ ∪ ∩ ∧ ∨ ￢ ⇒ ⇔ ∀ ∃ ∮ ∑ ∏ ＋ － ＜ ＝ ＞
、 。 · ‥ … ¨ 〃 ― ∥ ＼ ∼ ´ ～ ˇ ˘ ˝ ˚ ˙ ¸ ˛ ¡ ¿ ː ！ ＇ ， ． ／ ： ； ？ ＾ ＿ ｀ ｜
½ ⅓ ⅔ ¼ ¾ ⅛ ⅜ ⅝ ⅞ ¹ ² ³ ⁴ ⁿ ₁ ₂ ₃ ₄
Æ Ð Ħ IJ Ł Ø Œ Þ Ŧ Ŋ æ đ ð ħ ı ij ĸ ŀ ł ø œ ß þ ŧ ŋ ʼn
А Б В Г Д Е Ё Ж З И Й К Л М Н О П Р С Т У Ф Х Ц Ч Ш Щ Ъ Ы Ь Э Ю Я а б в г д е ё ж з и й к л м н о п р с т у ф х ц ч ш щ ъ ы ь э ю я
′ ″ ℃ Å ￠ ￡ ￥ ¤ ℉ ‰ ＄ ％ Ｆ ￦ ㎕ ㎖ ㎗ ℓ ㎘ ㏄ ㎣ ㎤ ㎥ ㎦ ㎙ ㎚ ㎛ ㎜ ㎝ ㎞ ㎟ ㎠ ㎡ ㎢ ㏊ ㎍ ㎎ ㎏ ㏏ ㎈ ㎉ ㏈ ㎧ ㎨ ㎰ ㎱ ㎲ ㎳ ㎴ ㎵ ㎶ ㎷ ㎸ ㎹ ㎀ ㎁ ㎂ ㎃ ㎄ ㎺ ㎻ ㎽ ㎾ ㎿ ㎐ ㎑ ㎒ ㎓ ㎔ Ω ㏀ ㏁ ㎊ ㎋ ㎌ ㏖ ㏅ ㎭ ㎮ ㎯ ㏛ ㎩ ㎪ ㎫ ㎬ ㏝ ㏐ ㏓ ㏃ ㏉ ㏜ ㏆
§ ※ ☆ ★ ○ ● ◎ ◇ ◆ □ ■ △ ▽ → ← ↑ ↓ ↔ 〓 ◁ ◀ ▷ ▶ ♤ ♠ ♡ ♥ ♧ ♣ ⊙ ◈ ▣ ◐ ◑ ▒ ▤ ▥ ▨ ▧ ▦ ▩ ♨ ☏ ☎ ☜ ☞ † ‡ ↕ ↗ ↙ ↖ ↘ ♭ ♩ ♪ ♬ ㉿ ㈜ № ㏇ ™ ㏂ ㏘ ℡ ＃ ＆ ＊ ＠ ª º
ⅰ ⅱ ⅲ ⅳ ⅴ ⅵ ⅶ ⅷ ⅸ ⅹ Ⅰ Ⅱ Ⅲ Ⅳ Ⅴ Ⅵ Ⅶ Ⅷ Ⅸ Ⅹ
ا ب ت ث ج ح خ د ذ ر ز س ش ص ض ط ظ ع غ ف ق ک ل م ن ه و ی
닫기
    인기검색어 순위 펼치기

    RISS 인기검색어

      검색결과 좁혀 보기

      선택해제

      오늘 본 자료

      • 오늘 본 자료가 없습니다.
      더보기
      검색키워드
      저자 : Jian Wenyang (검색결과 1 건)
      • 무료
      • 기관 내 무료
      • 유료
      • KCI등재

        A novel pathogenic deletion in ISPD causes Walker-Warburg syndrome in a Chinese family

        Shi Yuting,Fu Yimei,Tao Zhouteng,Yong Wenjing,Peng Huirong,Jian Wenyang,Chen Gang,Guo Manhui,Zhao Yanhua,Yao Ruojin,Guo Dewei 한국유전학회 2023 Genes & Genomics Vol.45 No.3

        Background Walker-Warburg syndrome (WWS) is a genetically heterogeneous disease that often presents with complex brain and eye malformations and congenital muscular dystrophy. Mutations of the ISPD gene have been identified as one of the most frequent causes of WWS. Objective The current study aimed to identify the cause of severe congenital hydrocephalus and brain dysplasia in our subject. Methods Genomic DNA was extracted from the fetus's umbilical cord blood and peripheral venous blood of the parents. The genetic analysis included whole-exome sequencing and qPCR. Additionally, in silico analysis and cellular experiments were performed. Results We identified a novel homozygous deletion of exons 7 to 9 in the ISPD gene of the fetus with WWS. In silico analysis revealed a defective domain structure in the C-terminus domain of the ISPD. Analysis of the electrostatic potential energy showed the formation of a new binding pocket formation on the surface of the mutant ISPD gene (ISPD-del ex7-9). Cellular study of the mutant ISPD revealed a significant change in its cellular localization, with the ISPD-del ex7-9 protein translocating from the cytoplasm to the nucleus compared to wild-type ISPD, which is mostly present in the cytoplasm. Conclusion The present study expands the mutational spectrum of WWS caused by ISPD mutations. Importantly, our work suggests that whole-exome sequencing could be considered as a diagnostic option for fetuses with congenital hydrocephalus and brain malformations when karyotype or chromosomal microarray analysis fails to provide a definitive diagnosis.

      맨처음 페이지로1맨끝 페이지로

      연관 검색어 추천

      이 검색어로 많이 본 자료

      활용도 높은 자료

      해외이동버튼