A null variant in PUS3 confirms its involvement in intellectual disability and further delineates the associated neurodevelopmental disease

被引：24

作者：

Abdelrahman, Hanadi A. ^{[1
]}

Al-Shamsi, Aisha M. ^{[2
]}

Ali, Bassam R. ^{[1
,3
]}

Al-Gazali, Lihadh ^{[1
]}

机构：

[1] United Arab Emirates Univ, Coll Med & Heath Sci, Al Ain, U Arab Emirates

[2] Tawam Hosp, Paediat Dept, Al Ain, U Arab Emirates

[3] United Arab Emirates Univ, Zayed Ctr Hlth Sci, Al Ain, U Arab Emirates

来源：

CLINICAL GENETICS | 2018年 / 94卷 / 06期

关键词：

D O I：

10.1111/cge.13443

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

引用

页码：586 / 587

页数：2

共 4 条

[1] A multicenter clinical exome study in unselected cohorts from a consanguineous population of Saudi Arabia demonstrated a high diagnostic yield [J].

Alfares, Ahmed ;

Alfadhel, Majid ;

Wani, Tariq ;

Alsahli, Saud ;

Alluhaydan, Iram ;

Al Mutairi, Fuad ;

Alothaim, Ali ;

Albalwi, Mohammed ;

Al Subaie, Lamia ;

Alturki, Saeed ;

Al-Twaijri, Waleed ;

Alrifai, Muhammad ;

Al-Rumayya, Ahmed ;

Alameer, Seham ;

Faqeeh, Eissa ;

Alasmari, Ali ;

Alsamman, Abdulaziz ;

Tashkandia, Soha ;

Alghamdi, Abdulaziz ;

Alhashem, Amal ;

Tabarki, Brahim ;

AlShahwan, Saad ;

Hundallah, Khalid ;

Wali, Sami ;

Al-Hebbi, Homoud ;

Babiker, Amir ;

Mohamed, Sarar ;

Eyaid, Wafaa ;

Zada, Abdul Ali Peer .

MOLECULAR GENETICS AND METABOLISM, 2017, 121 (02) :91-95

[2] Role of Pseudouridine Formation by Deg1 for Functionality of Two Glutamine Isoacceptor tRNAs [J].

Klassen, Roland ;

Schaffrath, Raffael .

BIOMOLECULES, 2017, 7 (01)

[3] Optimization of Codon Translation Rates via tRNA Modifications Maintains Proteome Integrity [J].

Nedialkova, Danny D. ;

Leidel, Sebastian A. .

CELL, 2015, 161 (07) :1606-1618

[4] A homozygous truncating mutation in PUS3 expands the role of tRNA modification in normal cognition [J].

Shaheen, Ranad ;

Han, Lu ;

Faqeih, Eissa ;

Ewida, Nour ;

Alobeid, Eman ;

Phizicky, Eric M. ;

Alkuraya, Fowzan S. .

HUMAN GENETICS, 2016, 135 (07) :707-713

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