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

HOX epimutations driven by maternal SMCHD1/LRIF1 haploinsufficiency trigger homeotic transformations in genetically wildtype offspring

由母体 SMCHD1/LRIF1 单倍体不足驱动的 HOX 表观突变引发了遗传野生型后代的同源异型转变

Shifeng Xue, Thanh Thao Nguyen Ly, Raunak S Vijayakar, Jingyi Chen, Joel Ng, Ajay S Mathuru, Frederique Magdinier, Bruno Reversade

Loss of C2orf69 defines a fatal autoinflammatory syndrome in humans and zebrafish that evokes a glycogen-storage-associated mitochondriopathy

C2orf69 的缺失会导致人类和斑马鱼发生致命的自身炎症综合征,并引发与糖原储存相关的线粒体病。

Hui Hui Wong,Sze Hwee Seet,Michael Maier,Ayse Gurel,Ricardo Moreno Traspas,Cheryl Lee,Shan Zhang,Beril Talim,Abigail Y T Loh,Crystal Y Chia,Tze Shin Teoh,Danielle Sng,Jarred Rensvold,Sule Unal,Evgenia Shishkova,Ece Cepni,Fatima M Nathan,Fernanda L Sirota,Chao Liang,Nese Yarali,Pelin O Simsek-Kiper,Tadahiro Mitani,Serdar Ceylaner,Ozlem Arman-Bilir,Hamdi Mbarek,Fatma Gumruk,Stephanie Efthymiou,Deniz Uğurlu Çi Men,Danai Georgiadou,Kortessa Sotiropoulou,Henry Houlden,Franziska Paul,Davut Pehlivan,Candice Lainé,Guoliang Chai,Nur Ain Ali,Siew Chin Choo,Soh Sok Keng,Bertrand Boisson,Elanur Yılmaz,Shifeng Xue,Joshua J Coon,Thanh Thao Nguyen Ly,Naser Gilani,Dana Hasbini,Hulya Kayserili,Maha S Zaki,Robert J Isfort,Natalia Ordonez,Kornelia Tripolszki,Peter Bauer,Nima Rezaei,Simin Seyedpour,Ghamar Taj Khotaei,Charles C Bascom,Reza Maroofian,Myriam Chaabouni,Afaf Alsubhi,Wafaa Eyaid,Sedat Işıkay,Joseph G Gleeson,James R Lupski,Jean-Laurent Casanova,David J Pagliarini,Nurten A Akarsu,Sebastian Maurer-Stroh,Arda Cetinkaya,Aida Bertoli-Avella,Ajay S Mathuru,Lena Ho,Frederic A Bard,Bruno Reversade

Loss-of-function mutations in UDP-Glucose 6-Dehydrogenase cause recessive developmental epileptic encephalopathy

UDP-葡萄糖6-脱氢酶功能缺失突变会导致隐性遗传性发育性癫痫性脑病

Holger Hengel # ,Célia Bosso-Lefèvre # ,George Grady ,Emmanuelle Szenker-Ravi ,Hankun Li ,Sarah Pierce ,Élise Lebigot ,Thong-Teck Tan ,Michelle Y Eio ,Gunaseelan Narayanan ,Kagistia Hana Utami ,Monica Yau ,Nader Handal ,Werner Deigendesch ,Reinhard Keimer ,Hiyam M Marzouqa ,Meral Gunay-Aygun ,Michael J Muriello ,Helene Verhelst ,Sarah Weckhuysen ,Sonal Mahida ,Sakkubai Naidu ,Terrence G Thomas ,Jiin Ying Lim ,Ee Shien Tan ,Damien Haye ,Michèl A A P Willemsen ,Renske Oegema ,Wendy G Mitchell ,Tyler Mark Pierson ,Marisa V Andrews ,Marcia C Willing ,Lance H Rodan ,Tahsin Stefan Barakat ,Marjon van Slegtenhorst ,Ralitza H Gavrilova ,Diego Martinelli ,Tal Gilboa ,Abdullah M Tamim ,Mais O Hashem ,Moeenaldeen D AlSayed ,Maha M Abdulrahim ,Mohammed Al-Owain ,Ali Awaji ,Adel A H Mahmoud ,Eissa A Faqeih ,Ali Al Asmari ,Sulwan M Algain ,Lamyaa A Jad ,Hesham M Aldhalaan ,Ingo Helbig ,David A Koolen ,Angelika Riess ,Ingeborg Kraegeloh-Mann ,Peter Bauer ,Suleyman Gulsuner ,Hannah Stamberger ,Alvin Yu Jin Ng ,Sha Tang ,Sumanty Tohari ,Boris Keren ,Laura E Schultz-Rogers ,Eric W Klee ,Sabina Barresi ,Marco Tartaglia ,Hagar Mor-Shaked ,Sateesh Maddirevula ,Amber Begtrup ,Aida Telegrafi ,Rolph Pfundt ,Rebecca Schüle ,Brian Ciruna ,Carine Bonnard ,Mahmoud A Pouladi ,James C Stewart ,Adam Claridge-Chang ,Dirk J Lefeber ,Fowzan S Alkuraya ,Ajay S Mathuru ,Byrappa Venkatesh ,Joseph J Barycki ,Melanie A Simpson ,Saumya S Jamuar ,Ludger Schöls ,Bruno Reversade

Conspecific injury raises an alarm in medaka

同种伤害给青鳉鱼敲响警钟

Ajay S Mathuru

Tactile stimulation reduces fear in fish

触觉刺激减少鱼的恐惧

Annett Schirmer, Suresh Jesuthasan, Ajay S Mathuru