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

Recessive variants in WSB2 encoding a substrate receptor of E3 ubiquitin ligase underlie a neurodevelopmental syndrome

WSB2基因中编码E3泛素连接酶底物受体的隐性变异是神经发育综合征的病因。

Luo, Shiyu; Gailus-Durner, Valérie; McGivern, Bobbi; Li, Qifei; Kottmeier, Jessica; Ho, Mai-Lan; Mor-Shaked, Hagar; Elpeleg, Orly; Aref-Eshghi, Erfan; Brodeur, Amanda C; Schmitz-Abe, Klaus; Genetti, Casie A; Picker, Jonathan; Shi, Jiahai; Bux, Reem Ibrahim; Ben-Omran, Tawfeg; Fuchs, Helmut; Harel, Tamar; de Angelis, Martin Hrabě; Agrawal, Pankaj B

Clinical and genetic delineation of autosomal recessive and dominant ACTL6B-related developmental brain disorders

ACTL6B相关常染色体隐性和显性遗传性脑发育障碍的临床和遗传学特征

Cali, Elisa; Quirin, Tania; Rocca, Clarissa; Efthymiou, Stephanie; Riva, Antonella; Marafi, Dana; Zaki, Maha S; Suri, Mohnish; Dominguez, Roberto; Elbendary, Hasnaa M; Alavi, Shahryar; Abdel-Hamid, Mohamed S; Morsy, Heba; Mau-Them, Frederic Tran; Nizon, Mathilde; Tesner, Pavel; Ryba, Lukáš; Zafar, Faisal; Rana, Nuzhat; Saadi, Nebal W; Firoozfar, Zahra; Gencpinar, Pinar; Unay, Bulent; Ustun, Canan; Bruel, Ange-Line; Coubes, Christine; Stefanich, Jennifer; Sezer, Ozlem; Agolini, Emanuele; Novelli, Antonio; Vasco, Gessica; Lettori, Donatella; Milh, Mathieu; Villard, Laurent; Zeidler, Shimriet; Opperman, Henry; Strehlow, Vincent; Issa, Mahmoud Y; El Khassab, Hebatallah; Chand, Prem; Ibrahim, Shahnaz; Rashidi-Nezhad, Ali; Miryounesi, Mohammad; Larki, Pegah; Morrison, Jennifer; Cristian, Ingrid; Thiffault, Isabelle; Bertsch, Nicole L; Noh, Grace J; Pappas, John; Moran, Ellen; Marinakis, Nikolaos M; Traeger-Synodinos, Joanne; Hosseini, Susan; Abbaszadegan, Mohammad Reza; Caumes, Roseline; Vissers, Lisenka E L M; Neshatdoust, Maedeh; Montazer Zohour, Mostafa; El Fahime, Elmostafa; Canavati, Christina; Kamal, Lara; Kanaan, Moien; Askander, Omar; Voinova, Victoria; Levchenko, Olga; Haider, Shahzhad; Halbach, Sara S; Elias Maia, Rayana; Mansoor, Salehi; Jain, Vivek; Tawde, Sanjukta; Challa, Viveka Santhosh R; Gowda, Vykuntaraju K; Srinivasan, Varunvenkat M; Victor, Lucas Alves; Pinero-Banos, Benito; Hague, Jennifer; ElAwady, Heba Ahmed; Maria de Miranda Henriques-Souza, Adelia; Cheema, Huma Arshad; Anjum, Muhammad Nadeem; Idkaidak, Sara; Alqarajeh, Firas; Atawneh, Osama; Mor-Shaked, Hagar; Harel, Tamar; Zifarelli, Giovanni; Bauer, Peter; Kok, Fernando; Kitajima, Joao Paulo; Monteiro, Fabiola; Josahkian, Juliana; Lesca, Gaetan; Chatron, Nicolas; Ville, Dorothe; Murphy, David; Neul, Jeffrey L; Mullegama, Sureni V; Begtrup, Amber; Herman, Isabella; Mitani, Tadahiro; Posey, Jennifer E; Tay, Chee Geap; Javed, Iram; Carr, Lucinda; Kanani, Farah; Beecroft, Fiona; Hane, Lee; Abdelkreem, Elsayed; Macek, Milan; Bispo, Luciana; Elmaksoud, Marwa Abd; Hashemi-Gorji, Farzad; Pehlivan, Davut; Amor, David J; Jamra, Rami Abou; Chung, Wendy K; Ghayoor Karimiani, Eshan; Campeau, Philippe M; Alkuraya, Fowzan S; Pagnamenta, Alistair T; Gleeson, Joseph G; Lupski, James R; Striano, Pasquale; Moreno-De-Luca, Andres; Lafontaine, Denis L J; Houlden, Henry; Maroofian, Reza

NDUFS4, a mitochondrial complex I subunit, is essential for T-cell metabolic fitness and immune function.

NDUFS4 是线粒体复合物 I 的一个亚基,对 T 细胞的代谢适应性和免疫功能至关重要。

Shamriz Oded, Bar-On Zahala, Yosef Omri, Cohen-Daniel Leonor, Sheer Ayelet, Reuven Or, Salaymeh Wajeeh, Saragovi Amijai, Somech Raz, Lev Atar, Mor-Shaked Hagar, Tal Yuval, Fattal-Valevski Aviva, Edvardson Simon, Berger Michael

A neurodevelopmental disorder associated with a loss-of-function missense mutation in RAB35

与 RAB35 功能丧失错义突变相关的神经发育障碍

Adriana Aguila, Somaya Salah, Gopinath Kulasekaran, Moatasem Shweiki, Nava Shaul-Lotan, Hagar Mor-Shaked, Muhannad Daana, Tamar Harel, Peter S McPherson

USP27X variants underlying X-linked intellectual disability disrupt protein function via distinct mechanisms

导致X连锁智力障碍的USP27X变异体通过不同的机制破坏蛋白质功能。

Intisar Koch,Maya Slovik,Yuling Zhang,Bingyu Liu,Martin Rennie,Emily Konz,Benjamin Cogne,Muhannad Daana,Laura Davids,Illja J Diets,Nina B Gold,Alexander M Holtz,Bertrand Isidor,Hagar Mor-Shaked,Juanita Neira Fresneda,Karen Y Niederhoffer,Mathilde Nizon,Rolph Pfundt,Meh Simon,Apa Stegmann,Maria J Guillen Sacoto,Marijke Wevers,Tahsin Stefan Barakat,Shira Yanovsky-Dagan,Boyko S Atanassov,Rachel Toth,Chengjiang Gao,Francisco Bustos,Tamar Harel

SPTSSA variants alter sphingolipid synthesis and cause a complex hereditary spastic paraplegia

SPTSSA 变体会改变鞘脂合成并导致复杂的遗传性痉挛性截瘫

Siddharth Srivastava, Hagar Mor Shaked, Kenneth Gable, Sita D Gupta, Xueyang Pan, Niranjanakumari Somashekarappa, Gongshe Han, Payam Mohassel, Marc Gotkine, Elizabeth Doney, Paula Goldenberg, Queenie K G Tan, Yi Gong, Benjamin Kleinstiver, Brian Wishart, Heidi Cope, Claudia Brito Pires, Hannah Stutz

Bi-allelic loss-of-function variants in WBP4, encoding a spliceosome protein, result in a variable neurodevelopmental syndrome

编码剪接体蛋白的WBP4基因的双等位基因功能缺失变异会导致不同的神经发育综合征。

Engal, Eden; Oja, Kaisa Teele; Maroofian, Reza; Geminder, Ophir; Le, Thuy-Linh; Marzin, Pauline; Guimier, Anne; Mor, Evyatar; Zvi, Naama; Elefant, Naama; Zaki, Maha S; Gleeson, Joseph G; Muru, Kai; Pajusalu, Sander; Wojcik, Monica H; Pachat, Divya; Elmaksoud, Marwa Abd; Chan Jeong, Won; Lee, Hane; Bauer, Peter; Zifarelli, Giovanni; Houlden, Henry; Daana, Muhannad; Elpeleg, Orly; Amiel, Jeanne; Lyonnet, Stanislas; Gordon, Christopher T; Harel, Tamar; Õunap, Katrin; Salton, Maayan; Mor-Shaked, Hagar

Biallelic loss of function variants in WBP4, encoding a spliceosome protein, result in a variable neurodevelopmental delay syndrome

WBP4基因(编码剪接体蛋白)的双等位基因功能缺失变异会导致不同程度的神经发育迟缓综合征。

Engal, Eden; Oja, Kaisa Teele; Maroofian, Reza; Geminder, Ophir; Le, Thuy-Linh; Mor, Evyatar; Tzvi, Naama; Elefant, Naama; Zaki, Maha S; Gleeson, Joseph G; Muru, Kai; Pajusalu, Sander; Wojcik, Monica H; Pachat, Divya; Elmaksoud, Marwa Abd; Jeong, Won Chan; Lee, Hane; Bauer, Peter; Zifarelli, Giovanni; Houlden, Henry; Elpeleg, Orly; Gordon, Chris; Harel, Tamar; Õunap, Katrin; Salton, Maayan; Mor-Shaked, Hagar

Rare germline heterozygous missense variants in BRCA1-associated protein 1, BAP1, cause a syndromic neurodevelopmental disorder

BRCA1相关蛋白1(BAP1)中罕见的种系杂合错义变异会导致一种综合征性神经发育障碍。

Küry, Sébastien; Ebstein, Frédéric; Mollé, Alice; Besnard, Thomas; Lee, Ming-Kang; Vignard, Virginie; Hery, Tiphaine; Nizon, Mathilde; Mancini, Grazia M S; Giltay, Jacques C; Cogné, Benjamin; McWalter, Kirsty; Deb, Wallid; Mor-Shaked, Hagar; Li, Hong; Schnur, Rhonda E; Wentzensen, Ingrid M; Denommé-Pichon, Anne-Sophie; Fourgeux, Cynthia; Verheijen, Frans W; Faurie, Eva; Schot, Rachel; Stevens, Cathy A; Smits, Daphne J; Barr, Eileen; Sheffer, Ruth; Bernstein, Jonathan A; Stimach, Chandler L; Kovitch, Eliana; Shashi, Vandana; Schoch, Kelly; Smith, Whitney; van Jaarsveld, Richard H; Hurst, Anna C E; Smith, Kirstin; Baugh, Evan H; Bohm, Suzanne G; Vyhnálková, Emílie; Ryba, Lukáš; Delnatte, Capucine; Neira, Juanita; Bonneau, Dominique; Toutain, Annick; Rosenfeld, Jill A; Audebert-Bellanger, Séverine; Gilbert-Dussardier, Brigitte; Odent, Sylvie; Laumonnier, Frédéric; Berger, Seth I; Smith, Ann C M; Bourdeaut, Franck; Stern, Marc-Henri; Redon, Richard; Krüger, Elke; Margueron, Raphaël; Bézieau, Stéphane; Poschmann, Jeremie; Isidor, Bertrand

[Insulin and mRNA vaccines: Two major discoveries 100 years apart. A question of availability for all countries?]

胰岛素和mRNA疫苗:相隔百年的两项重大发现。能否惠及所有国家?

Chong, Jessica X; Talbot, Jared C; Teets, Emily M; Previs, Samantha; Martin, Brit L; Shively, Kathryn M; Marvin, Colby T; Aylsworth, Arthur S; Saadeh-Haddad, Reem; Schatz, Ulrich A; Inzana, Francesca; Ben-Omran, Tawfeg; Almusafri, Fatima; Al-Mulla, Mariam; Buckingham, Kati J; Harel, Tamar; Mor-Shaked, Hagar; Radhakrishnan, Periyasamy; Girisha, Katta M; Nayak, Shalini S; Shukla, Anju; Dieterich, Klaus; Faure, Julien; Rendu, John; Capri, Yline; Latypova, Xenia; Nickerson, Deborah A; Warshaw, David; Janssen, Paul M; Amacher, Sharon L; Bamshad, Michael J; Benaderette, Serge; Halimi, Serge