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

Biallelic variants in the noncoding RNA gene RNU4-2 cause a recessive neurodevelopmental syndrome with distinct white matter changes

非编码RNA基因RNU4-2的双等位基因变异会导致一种隐性遗传的神经发育综合征,并伴有明显的白质改变。

Rius, Rocio; Blakes, Alexander J M; Chen, Yuyang; De Jonghe, Joachim; Lecoquierre, François; Dawes, Ruebena; Cogne, Benjamin; Kim, Hyung Chul; Alvi, Javeria R; Amblard, Florence; Ansari, Morad; Arlt, Annabelle; Austin-Tse, Christina; Baer, Sarah; Balasubramanian, Meena; Balton, Elsa V; Barcia, Giulia; Beleza-Meireles, Ana; Bernstein, Jonathan A; Beygo, Jasmin; Blanc, Pierre; Bramswig, Nuria C; Braun, Frederik; Buchzik, Daniel; Calame, Daniel G; Campbell, Jamie; Coutton, Charles; Cunningham, Chloe A; Dargie, Nitsuh; Depienne, Christel; Dipple, Katrina M; Dieux, Anne; Dixit, Abhijit; Dreyer, Lauren; Du, Haowei; El Chehadeh, Salima; Field, Michael; Ewans, Lisa J; Geiger, Vanessa; Gibbs, Richard A; Glass, Ian; Grunewald, Olivier; Gueguen, Paul; Haack, Tobias B; Hadj Abdallah, Hamza; Harbuz, Radu; Helbig, Ingo; Horvath, Judit; Hustinx, Alexander; Isidor, Bertrand; Jacquemont, Marie-Line; Jamie, Fraser; Jeanne, Médéric; Kessler, Riley; Klinkhammer, Hannah; Korenke, G Christoph; Kotzaeridou, Urania; Krawitz, Peter; Laurie, Steven; Leventer, Richard J; Levy, Rebecca J; Lupski, James R; Marijon, Pierre; McGinnis, Kaitlin E; Mendez, Rodrigo; Messaoud, Olfa; Nava, Caroline; Nizard, Mevyn; O'Donnell-Luria, Anne; O'Leary, Melanie C; Olivieri, Simone; Parida, Amitav; Pehlivan, Davut; Prentice, Anna Jenne; Posey, Jennifer E; Reuter, Chloe M; Satre, Véronique; Schluth-Bolard, Caroline; Smol, Thomas; Sultan, Tipu; Taylor, John; Thauvin-Robinetvin, Christel; Thevenon, Julien; Uebergang, Eloise; Ueberberg, Sandra; Vincent-Delorme, Catherine; Wassmer, Evangeline; Westwood, Emma; Wheeler, Matthew T; Gulec, Elif Yilmaz; Vanderver, Adeline; Vossough, Arastoo; Sanders, Stephan J; Banka, Siddharth; Findlay, Gregory M; MacArthur, Daniel G; Simons, Cas; Whiffin, Nicola

Using the linear references from the pangenome to discover missing autism variants.

利用泛基因组的线性参考序列来发现缺失的自闭症变异。

Sui Yang, Lin Jiadong, Noyes Michelle D, Kwon Youngjun, Wong Isaac, Koundinya Nidhi, Harvey William T, Wu Mei, Hoekzema Kendra, Munson Katherine M, Garcia Gage H, Knuth Jordan, Wertz Julie, Wang Tianyun, Hennick Kelsey, Karunakaran Druha, Polo Prieto Rafael A, Meyer-Schuman Rebecca, Cherry Fisher, Pehlivan Davut, Suter Bernhard, Gustafson Jonas A, Miller Danny E, Berk-Rauch Hanna, Nowakowski Tomasz J, Chakravarti Aravinda, Zoghbi Huda Y, Eichler Evan E

Photovoltaic nanoassembly of nanowire arrays sensitized with colloidal nanocrystals for near-infrared retina photostimulation.

利用胶体纳米晶体敏化的纳米线阵列光伏纳米组装体进行近红外视网膜光刺激。

Kaya Tarik S, Kaleli Humeyra N, Chaffiol Antoine, Corna Andrea, Joffrois Corentin, Balamur Ridvan, Caliskan Ugur B, Onal Asim, Pehlivan Cigdem, Tekinay Eren, Yilmaz Alp, Mohajeri Roya, Cetin Arif E, Zeck Günther, Picaud Serge, Nizamoglu Sedat

Bi-allelic variants in neuronal adhesion molecule astrotactin 1 gene ASTN1 cause diverse neurodevelopmental disorders

神经元黏附分子星形胶质细胞1基因(ASTN1)的双等位基因变异会导致多种神经发育障碍

Levine, Jesse M; Calame, Daniel G; Sangermano, Riccardo; Du, Haowei; Saad, Ahmed; Lisfeld, Jasmin; Bierhals, Tatjana; Denecke, Jonas; Uctepe, Eyyup; Celik, Merve Yoldas; Yesilyurt, Ahmet; Yildiz Er, Hilal; Yilmaz Gulec, Elif; Mushiba, Aziza; Almontashiri, Naif; Gawlinski, Pawel; Wiszniewski, Wojciech; Karaca, Ender; Alabdi, Lama; Pehlivan, Davut; Marafi, Dana; Zaki, Maha S; Alkuraya, Fowzan S; Gleeson, Joseph G; Jhangiani, Shalini N; Gibbs, Richard A; Posey, Jennifer E; Bujakowska, Kinga M; Lupski, James R

Bi-allelic variants in NRDC cause a neurodevelopmental disorder characterized by neonatal lethality, microcephaly, and brain abnormalities

NRDC基因的双等位基因变异会导致一种神经发育障碍,其特征是新生儿死亡、小头畸形和脑部异常。

Pehlivan, Davut; Sandoval, Abigail; Maroofian, Reza; Lecoquierre, François; Al Shamsi, Aisha M; Lee, Gyu S; Yesilbas, Osman; Taylor, Preston; McDougal, Matthew B; Bahrambeigi, Vahid; Aryani, Omid; Ramirez, Juan Felipe; Salih, Khalid Hama; Al Alam, Chadi; Morsy, Heba; Hussien, Haytham; Omar, Tarek; Abdelrazek, Ibrahim M; Brehin, Anne Claire; Marafi, Dana; Kalayci, Tugba; Rahma, Jubran Abu; Talbeya, Jawabreh Kassem; Dabbah, Husein; Verspyck, Eric; Moosavian, Toktam; Fatih, Jawid M; Mitani, Tadahiro; Akay, Gulsen; Calame, Daniel G; Guerrot, Anne-Marie; Chung, Wendy K; Houlden, Henry; Lupski, James R; Shalata, Adel; Yoon, Wan Hee

Protective Effect of Multifloral Honey on Stem Cell Aging in a Dynamic Cell Culture Model

多花蜂蜜对动态细胞培养模型中干细胞衰老的保护作用

Kavak, Fikriye Fulya; Cruciani, Sara; Garroni, Giuseppe; Serra, Diletta; Satta, Rosanna; Pirim, Ibrahim; Pehlivan, Melek; Maioli, Margherita

Impact of testosterone-based gender-affirming hormone therapy on toll-like receptor transcript levels and peripheral blood leukocyte counts in transmasculine individuals

睾酮类性别肯定激素疗法对跨性别男性 Toll 样受体转录水平和外周血白细胞计数的影响

Cihan, Hüseyin; Güngör, Özge; Kocabas, Gökcen Ünal; Köroglu, Esma Pehlivan; Gülpinar, Kübra; Pariltay, Erhan; Ardeniz, Ömür; T'Sjoen, Guy; Leffler, Jonatan; Winzeler, Bettina; Yürekli, Banu Sarer

Beyond metabolism: nutrition, sleep, and psychological wellbeing in children with insulin resistance-a case-control study

超越代谢:胰岛素抵抗儿童的营养、睡眠和心理健康——一项病例对照研究

Demircioğlu, Evla; Pehlivan, Merve

Antifibrotic Effects of Thymus syriacus Essential Oil in Bleomycin-Induced Pulmonary Fibrosis via Suppression of the TGF-β1/Smad2 Axis

百里香精油通过抑制TGF-β1/Smad2轴发挥抗博来霉素诱导肺纤维化的作用

Aksoy, Pınar; Yumrutaş, Önder; Doğan, Muhittin; Yumrutaş, Pınar; Sökücü, Mehmet; Pehlivan, Mustafa

Barriers to youth physical activity in urban green spaces: evidence from a Turkish city

城市绿地中青少年体育活动的障碍:来自土耳其某城市的证据

Pehlivan, İbrahim; Karaca, Elif