日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:

Testing the PEST hypothesis using relevant Rett mutations in MeCP2 E1 and E2 isoforms.

利用 MeCP2 E1 和 E2 同工型中的相关 Rett 突变来检验 PEST 假说

Kalani Ladan, Kim Bo-Hyun, de Chavez Alberto Ruiz, Roemer Anastasia, Mikhailov Anna, Merritt Jonathan K, Good Katrina V, Chow Robert L, Delaney Kerry R, Hendzel Michael J, Zhou Zhaolan, Neul Jeffrey L, Vincent John B, Ausió Juan

Biallelic Loss of Function Mutation in Sodium Channel Gene SCN10A in an Autism Spectrum Disorder Trio from Pakistan.

巴基斯坦自闭症谱系障碍三人组中钠通道基因 SCN10A 的双等位基因功能丧失突变。

Rabia Ansa, Harripaul Ricardo, Mikhailov Anna, Mahmood Saqib, Maqbool Shazia, Vincent John B, Ayub Muhammad

Mutations in DCPS and EDC3 in autosomal recessive intellectual disability indicate a crucial role for mRNA decapping in neurodevelopment

常染色体隐性遗传性智力障碍中DCPS和EDC3基因的突变表明mRNA脱帽在神经发育中起着至关重要的作用。

Ahmed, Iltaf; Buchert, Rebecca; Zhou, Mi; Jiao, Xinfu; Mittal, Kirti; Sheikh, Taimoor I; Scheller, Ute; Vasli, Nasim; Rafiq, Muhammad Arshad; Brohi, M Qasim; Mikhailov, Anna; Ayaz, Muhammad; Bhatti, Attya; Sticht, Heinrich; Nasr, Tanveer; Carter, Melissa T; Uebe, Steffen; Reis, André; Ayub, Muhammad; John, Peter; Kiledjian, Megerditch; Vincent, John B; Jamra, Rami Abou

Mutations in the histamine N-methyltransferase gene, HNMT, are associated with nonsyndromic autosomal recessive intellectual disability

组胺N-甲基转移酶基因(HNMT)的突变与非综合征型常染色体隐性遗传性智力障碍相关。

Heidari, Abolfazl; Tongsook, Chanakan; Najafipour, Reza; Musante, Luciana; Vasli, Nasim; Garshasbi, Masoud; Hu, Hao; Mittal, Kirti; McNaughton, Amy J M; Sritharan, Kumudesh; Hudson, Melissa; Stehr, Henning; Talebi, Saeid; Moradi, Mohammad; Darvish, Hossein; Arshad Rafiq, Muhammad; Mozhdehipanah, Hossein; Rashidinejad, Ali; Samiei, Shahram; Ghadami, Mohsen; Windpassinger, Christian; Gillessen-Kaesbach, Gabriele; Tzschach, Andreas; Ahmed, Iltaf; Mikhailov, Anna; Stavropoulos, D James; Carter, Melissa T; Keshavarz, Soraya; Ayub, Muhammad; Najmabadi, Hossein; Liu, Xudong; Ropers, Hans Hilger; Macheroux, Peter; Vincent, John B

Addendum. CC2D2A, encoding a coiled-coil and C2 domain protein, causes autosomal-recessive mental retardation with retinitis pigmentosa

附录。CC2D2A 基因编码一种卷曲螺旋和 C2 结构域蛋白,会导致常染色体隐性遗传的智力低下伴视网膜色素变性。

Noor, Abdul; Windpassinger, Christian; Patel, Megha; Stachowiak, Beata; Mikhailov, Anna; Azam, Matloob; Irfan, Muhammad; Paterson, Andrew D; Lutufullah, Muhammad; Doherty, Dan; Vincent, John B; Ayub, Muhammad

CC2D2A, encoding a coiled-coil and C2 domain protein, causes autosomal-recessive mental retardation with retinitis pigmentosa

CC2D2A基因编码一种卷曲螺旋和C2结构域蛋白,会导致常染色体隐性遗传的智力低下伴视网膜色素变性。

Noor, Abdul; Windpassinger, Christian; Patel, Megha; Stachowiak, Beata; Mikhailov, Anna; Azam, Matloob; Irfan, Muhammad; Siddiqui, Zahid Kamal; Naeem, Farooq; Paterson, Andrew D; Lutfullah, Muhammad; Vincent, John B; Ayub, Muhammad