Investigating the role of rare missense variants in RAB11B in Autism Spectrum Disorder

被引：0

作者：

Viggiano, Marta ^{[1
]}

Sandoni, Laura ^{[1
]}

Ceroni, Fabiola ^{[1
,2
]}

Visconti, Paola ^{[3
]}

Posar, Annio ^{[3
,4
]}

Scaduto, Maria Cristina ^{[3
]}

Vaisfeld, Alessandro ^{[5
]}

Bacchelli, Elena ^{[1
]}

Maestrini, Elena ^{[1
]}

机构：

[1] Univ Bologna, Dept Pharm & Biotechnol, Bologna, Italy

[2] Oxford Brookes Univ, Fac Hlth & Life Sci, Oxford, England

[3] IRCCS Ist Sci Neurol Bologna, UOSI Disturbi Spettro Autist, Bologna, Italy

[4] Univ Bologna, Dept Biomed & Neuromotor Sci, Bologna, Italy

[5] Univ Bologna, Dept Med & Surg Sci, Bologna, Italy

来源：

EUROPEAN JOURNAL OF HUMAN GENETICS | 2024年 / 32卷

关键词：

D O I：

暂无

中图分类号：

Q5 [生物化学]; Q7 [分子生物学];

学科分类号：

071010 ; 081704 ;

摘要：

P11.011.C

引用

页码：1467 / 1467

页数：1

共 50 条

[21] Rab11A and Rab11B distinctly regulate protease-activated receptor-1 recycling and constitutive degradation [J].

Coronel, Luisa ;

Grimsey, Neil ;

Canto, Isabel ;

Stephens, Bryan ;

Phan, Cattien ;

Handel, Tracy ;

Trejo, Joann .

FASEB JOURNAL, 2014, 28 (01)

[22] Rab11b resides in a vesicular compartment distinct from Rab11a in parietal cells and other epithelial cells [J].

Lapierre, LA ;

Dorn, MC ;

Zimmerman, CF ;

Navarre, J ;

Burnette, JO ;

Goldenring, JR .

EXPERIMENTAL CELL RESEARCH, 2003, 290 (02) :322-331

[23] Rab11b marks a membrane compartment distinct from Rab11a in Parietal Cells and other epithelial cells [J].

Lapierre, LA ;

Dorn, MC ;

Griner, JD ;

Zimmerman, CF ;

Goldenring, JR .

MOLECULAR BIOLOGY OF THE CELL, 2001, 12 :344A-344A

[24] CNTNAP2 Heterozygous Missense Variants: Risk Factors for Autism Spectrum Disorder and/or Other Pathologies? [J].

Canali, Giorgia ;

Goutebroze, Laurence .

JOURNAL OF EXPERIMENTAL NEUROSCIENCE, 2018, 12

[25] De novo heterozygous variant in the RAB11B gene presenting with combined cardiac defect and neurodevelopmental disorder: A case report [J].

Tung, Moon Ley ;

Romoser, Shelby ;

Kotlarek, Jaclyn ;

Warner, Taylor ;

Calhoun, Amy ;

Safina, Nicole .

GENETICS IN MEDICINE, 2022, 24 (03) :S166-S166

[26] RAB11B基因突变导致癫痫1例报告 [J].

柴莹莹 ;

林文鑫 ;

皇庭庭 ;

郑帼 ;

黄艳军 .

中国实用儿科杂志, 2024, 39 (10) :792-795

[27] Rab11b, the third member of the Rab11 family, exhibits both similarities and differences from the other members. [J].

Lapierre, LA ;

Navarre, J ;

Burnette, JO ;

Goldenring, JR .

MOLECULAR BIOLOGY OF THE CELL, 2000, 11 :214A-214A

[28] A comparison of polygenic contribution to Autism Spectrum Disorder for Common, Rare and Copy Number Variants [J].

Benke, Kelly S. ;

Sheppard, Brooke ;

Bakulski, Kelly ;

Singer, Alison ;

Shu, April ;

Ladd-Acosta, Christine ;

Fallin, Danielle M. .

GENETIC EPIDEMIOLOGY, 2015, 39 (07) :533-533

[29] AUTISM SPECTRUM DISORDER TRIOS FROM CONSANGUINEOUS POPULATIONS ARE ENRICHED FOR RARE BIALLELIC VARIANTS [J].

Harripaul, Ricardo ;

Rabia, Ansa ;

Vasli, Nasim ;

Mikhailov, Anna ;

Rodrigues, Ashlyn ;

Muhammad, Tahir ;

Madanogopal, Thulasi ;

Hashmi, Aisha ;

Tran, Clinton ;

Mahmood, Saqib ;

Heidari, Abolfazl ;

Bozorgmehr, Bita ;

Agha, Zehra ;

Ayub, Muhammad ;

Vincent, John .

EUROPEAN NEUROPSYCHOPHARMACOLOGY, 2021, 51 :E200-E200

[30] Identifying Rare Genetic Variants of Immune Mediators as Risk Factors for Autism Spectrum Disorder [J].

Cai, Chunquan ;

Yin, Zhaoqing ;

Liu, Aiping ;

Wang, Hui ;

Zeng, Shujuan ;

Wang, Zhangxing ;

Qiu, Huixian ;

Li, Shijun ;

Zhou, Jiaxiu ;

Wang, Mingbang .

GENES, 2022, 13 (06)

← 1 2 3 4 5 →