Explore tweets tagged as #ABCC9
New research strikes a high note, uncovering the genetic secrets behind voice pitch. Scientists at deCODE genetics found that variants in the ABCC9 gene influence pitch and are linked to cardiovascular health. #genetics 1/3
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H/o & examn raised the suspicion of "Cantú syndrome" & seq of ABCC9 gene detected a de novo c.3461G > A p.(Arg1154Gln) heterozygous pathogenic variant. Parents & sibs didnt have any CS-related clinical features nor ABCC9 gene alterations.
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Efthymiou et al. characterize nine individuals with ABCC9-related intellectual disability and myopathy syndrome (AIMS). All nine have homozygous loss-of-function variants in the ABCC9 gene, which encodes a regulatory subunit of ATP-sensitive K+ channels. https://t.co/HSIB8Fegch
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言語能力ではなく、男女問わず声の高低（ピッチ）を決定する遺伝子を同定したという、アイスランドdeCODE社によるSci. Adv.誌の論文の紹介記事。Nature。13000人の声を録音して分析、ABCC9遺伝子らしく、血圧の高さとも関連するとか。写真はビョーク。 https://t.co/DJY3Th4b6Q
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Novel loss-of-function variants expand ABCC9-related intellectual disability and myopathy syndrome https://t.co/ZrH7A7ILhy
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Para ello usaron bases genómicas y de voz de 12,901 personas residentes de Islandia. 🇮🇸 🧬 Descubrieron que las mutaciones del gen ABCC9 se correlacionan con hablar en un tono más alto.
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Among 12,901 Icelanders, common genetic variants near ABCC9 linked voice pitch https://t.co/ycEPWMqZCx
@ScienceAdvances
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Natureダイジェスト10月号 「声の高さを決める遺伝子を発見」 デコード・ジェネティクス社が実施した、約1万3000人のアイスランド人を対象とし���研究で、ABCC9という単一遺伝子に位置する共通の変異が、年齢や性別に関係なく高めの声に関連していることが分かった。 https://t.co/KIOPJ8rtNW
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Genvariante für die menschliche Stimmhöhe zeigt Herz-Kreislauf-Risiko an: Reykjavik – Eine Variante im Gen ABCC9, das in der Nebenniere vermutlich an der Produktion der Sexualhormone beteiligt ist,… #Genvariante #HerzKreislaufRisiko #Stimmfarbe
https://t.co/LZQhMAEoWg
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Identification of Marker genes for brain PDGFRβ+SM22α- #Pericyte (vs PDGFRβ+SM22α+ #SmoothMuscleCell) Bulk RNAseq Freshly isolated cells SM22α-Cre-Ai14🐭 PDGFRβ Ab 10-fold enriched genes in Pericyte Pla1a Ace2 Vtn Kcnj8 Abcc9 Yao Yao lab CNS Neurosci Ther 2025
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Using speech recordings from 13,000 individuals with genotypes, we discovered the first genetic locus for voice pitch; correlated common variants in ABCC9 that associate with higher voice pitch in men and women. https://t.co/u8hs6vCN4S 2/
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🎤 Da tenebrosa a squillante, il tono della #voce è deciso dai geni: lo rivela uno studio condotto da deCODE genetics, di Amgen. L'azienda ha scoperto mutazioni del gene ABCC9 che influenzano l'#intonazione della voce
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Study reveals first genetic locus for voice pitch The scientists found that ABCC9 variants associate with higher voice pitch in both men and women. The same sequence variants are also linked to higher pulse pressure, a cardiovascular risk factor,
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性別無関係に声の高さと関係する遺伝的要素としてABCC9の変異を見つけたらしいよ。 ABCC9つったらミノキシジルの結合先のSUR2Bのサブユニットを作るやつとして認識してたのでちょっと意外だったね。 メカニズムはまだよくわからないらしいね!!
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If you are looking for scRNAseq of LMCs, or other lymphatic collecting vessel cells, with over 900 LMCs (male + female) + 95% having Cacna1c (L-type calcium channel) + expression of known LMC ion channels Kcnh2, Ryr2, Kcnj8, Abcc9 please consider the below
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約13000人のアイスランド人のDNA配列と声質を分析した結果、声の高さを左右する遺伝子が初めて見つかる。ABCC9と呼ばれるこの遺伝子の変異をもつ人は、年齢や性別に関係なく通常より高い声に。声帯の振動に影響するたんぱく質に変異が関係しているらしい。これは気になる！🧐 https://t.co/Y1XCFoXwMh
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The icelandic group had published an association between variants near the ABCC9 gene and voice pitch last year and we wondered whether the association would be found in Mandarin Chinese speakers, where pitch conveys meaning https://t.co/SaK3c07aGj
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