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

FBXO22 deficiency defines a pleiotropic syndrome of growth restriction and multi-system anomalies associated with a unique epigenetic signature

FBXO22 缺陷是一种多效性综合征,表现为生长受限和多系统异常,并伴有独特的表观遗传特征。

Ramakrishna, Navin B; Mohamad Sahari, Umar Bin; Johmura, Yoshikazu; Ali, Nur Ain; Alghamdi, Malak; Bauer, Peter; Khan, Suliman; Ordoñez, Natalia; Ferreira, Mariana; Pinto Basto, Jorge; Alkuraya, Fowzan S; Faqeih, Eissa Ali; Mori, Mari; Almontashiri, Naif A M; Al Shamsi, Aisha; ElGhazali, Gehad; Abu Subieh, Hala; Al Ojaimi, Mode; El-Hattab, Ayman W; Said Al-Kindi, Said Ahmed; Alhashmi, Nadia; Alhabshan, Fahad; Al Saman, Abdulaziz; Tfayli, Hala; Arabi, Mariam; Khalifeh, Simone; Taylor, Alan; Alfadhel, Majid; Jain, Ruchi; Sinha, Shruti; Shenbagam, Shruti; Ramachandran, Revathy; Altunoğlu, Umut; Jacob, Anju; Thalange, Nandu; El Bejjani, Mireille; Perrin, Arnaud; Shin, Jay W; Al-Maawali, Almundher; Al-Shidhani, Azza; Al-Futaisi, Amna; Rabea, Fatma; Chekroun, Ikram; Almarri, Mohamed A; Ohta, Tomohiko; Nakanishi, Makoto; Alsheikh-Ali, Alawi; Ali, Fahad R; Bertoli-Avella, Aida M; Reversade, Bruno; Abou Tayoun, Ahmad

CIROZ is dispensable in ancestral vertebrates but essential for left-right patterning in humans

CIROZ在脊椎动物祖先中并非必需,但对人类的左右模式形成至关重要。

Emmanuelle Szenker-Ravi ,Tim Ott ,Amirah Yusof ,Maya Chopra ,Muznah Khatoo ,Beatrice Pak ,Wei Xuan Goh ,Anja Beckers ,Angela F Brady ,Lisa J Ewans ,Nabila Djaziri ,Naif A M Almontashiri ,Malak Ali Alghamdi ,Essa Alharby ,Majed Dasouki ,Lindsay Romo ,Wen-Hann Tan ,Sateesh Maddirevula ,Fowzan S Alkuraya ,Jessica L Giordano ,Anna Alkelai ,Ronald J Wapner ,Karen Stals ,Majid Alfadhel ,Abdulrahman Faiz Alswaid ,Susanne Bogusch ,Anna Schafer-Kosulya ,Sebastian Vogel ,Philipp Vick ,Axel Schweickert ,Matthew Wakeling ,Anne Moreau de Bellaing ,Aisha M Alshamsi ,Damien Sanlaville ,Hamdi Mbarek ,Chadi Saad ,Sian Ellard ,Frank Eisenhaber ,Kornelia Tripolszki ,Christian Beetz ,Peter Bauer ,Achim Gossler ,Birgit Eisenhaber ,Martin Blum ,Patrice Bouvagnet ,Aida Bertoli-Avella ,Jeanne Amiel ,Christopher T Gordon ,Bruno Reversade

Federated analysis of autosomal recessive coding variants in 29,745 developmental disorder patients from diverse populations

对来自不同人群的 29,745 名发育障碍患者的常染色体隐性编码变异进行联合分析

Chundru, V Kartik; Zhang, Zhancheng; Walter, Klaudia; Lindsay, Sarah J; Danecek, Petr; Eberhardt, Ruth Y; Gardner, Eugene J; Malawsky, Daniel S; Wigdor, Emilie M; Torene, Rebecca; Retterer, Kyle; Wright, Caroline F; Ólafsdóttir, Hildur; Guillen Sacoto, Maria J; Ayaz, Akif; Akbeyaz, Ismail Hakki; Türkdoğan, Dilşad; Al Balushi, Aaisha Ibrahim; Bertoli-Avella, Aida; Bauer, Peter; Szenker-Ravi, Emmanuelle; Reversade, Bruno; McWalter, Kirsty; Sheridan, Eamonn; Firth, Helen V; Hurles, Matthew E; Samocha, Kaitlin E; Ustach, Vincent D; Martin, Hilary C

Novel CYCLIN-O pathogenic variants in a patient presenting with bronchiectasis secondary to reduced generation of multiple motile cilia

一名患者因多纤毛运动减少而继发支气管扩张,该患者携带新型细胞周期蛋白O致病变异。

Yap, Kim Hoong; Lim, Albert Yick Hou; Thomas, Biju; Bonnard, Carine; Szenker-Ravi, Emmanuelle; Chong, Yan Ling; Roy, Sudipto; Reversade, Bruno

Genome-wide association study meta-analysis of dizygotic twinning illuminates genetic regulation of female fecundity

全基因组关联研究荟萃分析揭示了异卵双胞胎中女性生育力的遗传调控机制

Mbarek, Hamdi; Gordon, Scott D; Duffy, David L; Hubers, Nikki; Mortlock, Sally; Beck, Jeffrey J; Hottenga, Jouke-Jan; Pool, René; Dolan, Conor V; Actkins, Ky'Era V; Gerring, Zachary F; Van Dongen, Jenny; Ehli, Erik A; Iacono, William G; Mcgue, Matt; Chasman, Daniel I; Gallagher, C Scott; Schilit, Samantha L P; Morton, Cynthia C; Paré, Guillaume; Willemsen, Gonneke; Whiteman, David C; Olsen, Catherine M; Derom, Catherine; Vlietinck, Robert; Gudbjartsson, Daniel; Cannon-Albright, Lisa; Krapohl, Eva; Plomin, Robert; Magnusson, Patrik K E; Pedersen, Nancy L; Hysi, Pirro; Mangino, Massimo; Spector, Timothy D; Palviainen, Teemu; Milaneschi, Yuri; Penninnx, Brenda W; Campos, Adrian I; Ong, Ken K; Perry, John R B; Lambalk, Cornelis B; Kaprio, Jaakko; Ólafsson, Ísleifur; Duroure, Karine; Revenu, Céline; Rentería, Miguel E; Yengo, Loic; Davis, Lea; Derks, Eske M; Medland, Sarah E; Stefansson, Hreinn; Stefansson, Kari; Del Bene, Filippo; Reversade, Bruno; Montgomery, Grant W; Boomsma, Dorret I; Martin, Nicholas G

In skeletal muscle and neural crest cells, SMCHD1 regulates biological pathways relevant for Bosma syndrome and facioscapulohumeral dystrophy phenotype

在骨骼肌和神经嵴细胞中,SMCHD1 调控与博斯马综合征和面肩肱型肌营养不良表型相关的生物学通路

Camille Laberthonnière ,Mégane Delourme ,Raphaël Chevalier ,Camille Dion ,Benjamin Ganne ,David Hirst ,Leslie Caron ,Pierre Perrin ,José Adélaïde ,Max Chaffanet ,Shifeng Xue ,Karine Nguyen ,Bruno Reversade ,Jérôme Déjardin ,Anaïs Baudot ,Jérôme D Robin ,Frédérique Magdinier

RAF1 deficiency causes a lethal syndrome that underscores RTK signaling during embryogenesis

RAF1 缺乏会导致致命综合征,强调胚胎发生过程中的 RTK 信号传导

Samantha Wong #, Yu Xuan Tan #, Abigail Yi Ting Loh, Kiat Yi Tan, Hane Lee, Zainab Aziz, Stanley F Nelson, Engin Özkan, Hülya Kayserili, Nathalie Escande-Beillard #, Bruno Reversade #

The Opto-inflammasome in zebrafish as a tool to study cell and tissue responses to speck formation and cell death

斑马鱼的光炎症小体作为研究细胞和组织对斑点形成和细胞死亡的反应的工具

Eva Hasel de Carvalho, Shivani S Dharmadhikari, Kateryna Shkarina, Jingwei Rachel Xiong, Bruno Reversade, Petr Broz, Maria Leptin

Deep transcriptome profiling reveals limited conservation of A-to-I RNA editing in Xenopus

深度转录组分析揭示爪蟾中A-to-I RNA编辑的保守性有限

Nguyen, Tram Anh; Heng, Jia Wei Joel; Ng, Yan Ting; Sun, Rui; Fisher, Shira; Oguz, Gokce; Kaewsapsak, Pornchai; Xue, Shifeng; Reversade, Bruno; Ramasamy, Adaikalavan; Eisenberg, Eli; Tan, Meng How

Loss of FOCAD, operating via the SKI messenger RNA surveillance pathway, causes a pediatric syndrome with liver cirrhosis

FOCAD 的缺失(通过 SKI 信使 RNA 监视通路发挥作用)会导致一种伴有肝硬化的儿童综合征。

Ricardo Moreno Traspas,Tze Shin Teoh,Pui-Mun Wong,Michael Maier,Crystal Y Chia,Kenneth Lay,Nur Ain Ali,Austin Larson,Fuad Al Mutairi,Nouriya Abbas Al-Sannaa,Eissa Ali Faqeih,Majid Alfadhel,Huma Arshad Cheema,Juliette Dupont,Stéphane Bézieau,Bertrand Isidor,Dorrain Yanwen Low,Yulan Wang,Grace Tan,Poh San Lai,Hugues Piloquet,Madeleine Joubert,Hulya Kayserili,Kimberly A Kripps,Shareef A Nahas,Eric P Wartchow,Mikako Warren,Gandham SriLakshmi Bhavani,Majed Dasouki,Renata Sandoval,Elisa Carvalho,Luiza Ramos,Gilda Porta,Bin Wu,Harsha Prasada Lashkari,Badr AlSaleem,Raeda M BaAbbad,Anabela Natália Abreu Ferrão,Vasiliki Karageorgou,Natalia Ordonez-Herrera,Suliman Khan,Peter Bauer,Benjamin Cogne,Aida M Bertoli-Avella,Marie Vincent,Katta Mohan Girisha,Bruno Reversade