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

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

A pleiotropic recurrent dominant ITPR3 variant causes a complex multisystemic disease

一种具有多效性的复发性显性ITPR3变异体导致一种复杂的多系统疾病。

Anne Molitor,Alexandre Lederle,Mirjana Radosavljevic ,Vinay Sapuru,Megan E Zavorka Thomas,Jianying Yang,Mahsa Shirin,Virginie Collin-Bund,Katerina Jerabkova-Roda,Zhichao Miao,Alice Bernard ,Véronique Rolli ,Pierre Grenot,Carla Noemi Castro,Michelle Rosenzwajg,Elyssa G Lewis,Richard Person,Uxía-Saraiva Esperón-Moldes,Milja Kaare,Pekka T Nokelainen,Nurit Assia Batzir,Gal Zaks Hoffer,Nicodème Paul,Tristan Stemmelen ,Lydie Naegely,Antoine Hanauer,Sabrina Bibi-Triki,Sarah Grün,Sophie Jung,Ignacio Busnelli,Kornelia Tripolszki,Ruslan Al-Ali,Natalia Ordonez,Peter Bauer,Eunkyung Song,Kristin Zajo,Santiago Partida-Sanchez,Frank Robledo-Avila,Attila Kumanovics,Yoram Louzoun,Aurélie Hirschler,Angélique Pichot,Ori Toker,Cesar Andrés Muñoz Mejía,Nima Parvaneh,Esther Knapp,Joseph H Hersh,Heather Kenney,Ottavia M Delmonte,Luigi D Notarangelo,Jacky G Goetz,Samir B Kahwash,Christine Carapito,Rajinder P S Bajwa,Caroline Thomas,Stephan Ehl,Bertrand Isidor,Raphael Carapito ,Roshini S Abraham,Richard K Hite,Nufar Marcus ,Aida Bertoli-Avella,Seiamak Bahram

AXIN1 bi-allelic variants disrupting the C-terminal DIX domain cause craniometadiaphyseal osteosclerosis with hip dysplasia

AXIN1 双等位基因变异破坏 C 端 DIX 结构域,导致颅骨干骨硬化和髋关节发育不良

Paulien Terhal, Anton J Venhuizen, Davor Lessel, Wen-Hann Tan, Abdulrahman Alswaid, Regina Grün, Hamad I Alzaidan, Simon von Kroge, Nada Ragab, Maja Hempel, Christian Kubisch, Eduardo Novais, Alba Cristobal, Kornelia Tripolszki, Peter Bauer, Björn Fischer-Zirnsak, Rutger A J Nievelstein, Atty van Di

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