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

Biallelic variants in RNU2-2 cause a remarkably frequent developmental and epileptic encephalopathy

RNU2-2基因的双等位基因变异会导致一种非常常见的发育性和癫痫性脑病。

Jackson, Adam; Blakes, Alexander J M; Alhaddad, Bader; Henry, Olivia J; Delgado-Vega, Angelica M; Wall, Elizabeth; Abdelhadi, Ola; Agrawal, Shakti; Bakur, Khadijah; Blair, Edward; Brady, Angela F; Brittain, Helen; Chandler, Kate E; Clarke, Natasha; Danelli, Miriana; Drinkall, Nicholas; Duba, Irene; Elmslie, Frances; Ellingford, Jamie; Ewans, Lisa J; Fennell, Andrew P; Gazdagh, Gabriella; Heller, Simon P; Hammarsjö, Anna; Karrman, Kristina; Kini, Usha; Lesko, Nicole; Lindstrand, Anna; Macintosh, Rebecca; Mansour, Sahar; Menzies, Lara; Metcalfe, Kay; Milhench, Alison; Nashef, Lina; O'Keefe, Raymond T; Pacheco, Nadja Pekkola; Palmer, Elizabeth E; Parida, Amitav; Prescott, Katrina; Redman, Melody; Renieri, Alessandra; Fallerini, Chiara; Rizzo, Caterina Lo; Sachdev, Rani; Simons, Cas; Sisodiya, Sanjay M; Stewart, Helen; Stödberg, Tommy; Banos-Pinero, Benito; Taylan, Fulya; Thomas, Huw B; Tinella, Flavia; Wiafe, Samuel; Wedell, Anna; Whiffin, Nicola; Walker, Susan; Rius, Rocio; Chae, Jong Hee; Nordgren, Ann; Alkuraya, Fowzan; Lord, Jenny; Banka, Siddharth

Expanding the genotypic spectrum of combined oxidative phosphorylation deficiency 54

扩大联合氧化磷酸化缺陷的基因型谱 54

Lai, King Lam; Smith, Thomas B; Maroofian, Reza; Zaki, Maha S; Ramadesikan, Swetha; Reynolds, Tamara; Koboldt, Daniel C; Hunter, Jesse M; Vidaurre, Jorge; Atanasova, Mihaela; Marsden, Brian D; Yue, Wyatt W; Houlden, Henry; Taylor, Robert W; Newman, William G; O'Keefe, Raymond T

Analysis of R-loop forming regions identifies RNU2-2 and RNU5B-1 as neurodevelopmental disorder genes

对R环形成区域的分析表明,RNU2-2和RNU5B-1是神经发育障碍基因。

Jackson, Adam; Thaker, Nishi; Blakes, Alexander; Rice, Gillian; Griffiths-Jones, Sam; Balasubramanian, Meena; Campbell, Jennifer; Shannon, Nora; Choi, Jungmin; Hong, Juhyeon; Hunt, David; de Burca, Anna; Kim, Soo Yeon; Kim, Taekeun; Lee, Seungbok; Redman, Melody; Rius, Rocio; Simons, Cas; Tan, Tiong Yang; Ellingford, Jamie; O'Keefe, Raymond T; Chae, Jong Hee; Banka, Siddharth

Publisher Correction: Analysis of R-loop forming regions identifies RNU2-2 and RNU5B-1 as neurodevelopmental disorder genes

出版商更正:对R环形成区域的分析表明,RNU2-2和RNU5B-1是神经发育障碍基因。

Jackson, Adam; Thaker, Nishi; Blakes, Alexander; Rice, Gillian; Griffiths-Jones, Sam; Balasubramanian, Meena; Campbell, Jennifer; Shannon, Nora; Choi, Jungmin; Hong, Juhyeon; Hunt, David; de Burca, Anna; Kim, Soo Yeon; Kim, Taekeun; Lee, Seungbok; Redman, Melody; Rius, Rocio; Simons, Cas; Tan, Tiong Yang; Ellingford, Jamie; O'Keefe, Raymond T; Chae, Jong Hee; Banka, Siddharth

Bi-allelic variants in MRPL49 cause variable clinical presentations, including sensorineural hearing loss, leukodystrophy, and ovarian insufficiency

MRPL49基因的双等位基因变异会导致不同的临床表现,包括感觉神经性听力损失、脑白质营养不良和卵巢功能不全。

Thomas, Huw B; Demain, Leigh A M; Cabrera-Orefice, Alfredo; Schrauwen, Isabelle; Shamseldin, Hanan E; Rea, Alessandro; Bharadwaj, Thashi; Smith, Thomas B; Oláhová, Monika; Thompson, Kyle; He, Langping; Kaur, Namanpreet; Shukla, Anju; Abukhalid, Musaad; Ansar, Muhammad; Rehman, Sakina; Riazuddin, Saima; Abdulwahab, Firdous; Smith, Janine M; Stark, Zornitza; Mancilar, Hanifenur; Tumer, Sait; Esen, Fatma N; Uctepe, Eyyup; Topcu, Vehap; Yesilyurt, Ahmet; Afzal, Erum; Salari, Mehri; Carroll, Christopher; Zifarelli, Giovanni; Bauer, Peter; Kor, Deniz; Bulut, Fatma D; Houlden, Henry; Maroofian, Reza; Carrera, Samantha; Yue, Wyatt W; Munro, Kevin J; Alkuraya, Fowzan S; Jamieson, Peter; Ahmed, Zubair M; Leal, Suzanne M; Taylor, Robert W; Wittig, Ilka; O'Keefe, Raymond T; Newman, William G

Addressing the tissue specificity of U5 snRNP spliceosomopathies

探讨U5 snRNP剪接体病的组织特异性

Kemal, Rahmat Azhari; O'Keefe, Raymond T

The RNA splicing factor PRPF8 is required for left-right organiser cilia function and determination of cardiac left-right asymmetry via regulation of Arl13b splicing.

RNA 剪接因子 PRPF8 是左右组织纤毛功能所必需的,它通过调节 Arl13b 剪接来决定心脏左右不对称性

Jiang Fangfei, Boylan Michael, Maxwell Dale W, Qureshi Wasay Mohiuddin Shaikh, Rowlands Charlie F, Tenin Gennadiy, Mitchell Karen, Stephen Louise A, Vasconcelos Elton J R, Wang Dapeng, Chen Tong, Zha Junzhe, Liu Jingshu, Althali Nouf, Leordean Dragos V, Gallagher Meurig T, Basu Basudha, Szymanska Katarzyna, Veeraghanta Advait, Keavney Bernard, Humphries Martin J, Ellingford Jamie, Smith David, Johnson Colin A, O'Keefe Raymond T, Roy Sudipto, Hentges Kathryn E

Structural determination of oleanane-28,13β-olide and taraxerane-28,14β-olide fluoro-lactonization products from the reaction of oleanolic acid with Selectfluor(TM).

通过齐墩果酸与 Selectfluor(TM) 的反应,确定齐墩果烷-28,13β-内酯和蒲公英烷-28,14β-内酯氟化产物的结构

Eadsforth Megan A, Kong Linghan, Whitehead George, Vitórica-Yrezábal Iñigo J, O'Keefe Raymond T, Bryce Richard A, Whitehead Roger C

Biallelic variants in MRPL49 cause variable clinical presentations, including sensorineural hearing loss, leukodystrophy, and ovarian insufficiency

MRPL49基因的双等位基因变异会导致不同的临床表现,包括感觉神经性听力损失、脑白质营养不良和卵巢功能不全。

Thomas, Huw B; Demain, Leigh A M; Cabrera-Orefice, Alfredo; Schrauwen, Isabelle; Shamseldin, Hanan E; Rea, Alessandro; Bharadwaj, Thashi; Smith, Thomas B; Oláhová, Monika; Thompson, Kyle; He, Langping; Kaur, Namanpreet; Shukla, Anju; Abukhalid, Musaad; Ansar, Muhammad; Rehman, Sakina; Riazuddin, Saima; Abdulwahab, Firdous; Smith, Janine M; Stark, Zornitza; Carrera, Samantha; Yue, Wyatt W; Munro, Kevin J; Alkuraya, Fowzan S; Jamieson, Peter; Ahmed, Zubair M; Leal, Suzanne M; Taylor, Robert W; Wittig, Ilka; O'Keefe, Raymond T; Newman, William G

Novel homozygous variants in PRORP expand the genotypic spectrum of combined oxidative phosphorylation deficiency 54

PRORP基因中新发现的纯合变异体扩展了联合氧化磷酸化缺乏症的基因型谱<sup>54</sup>

Smith, Thomas B; Rea, Alessandro; Thomas, Huw B; Thompson, Kyle; Oláhová, Monika; Maroofian, Reza; Zamani, Mina; He, Langping; Sadeghian, Saeid; Galehdari, Hamid; Lotan, Nava Shaul; Gilboa, Tal; Herman, Kristin C; McCorvie, Thomas J; Yue, Wyatt W; Houlden, Henry; Taylor, Robert W; Newman, William G; O'Keefe, Raymond T