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

Ciliopathy-Associated Missense Mutations in IFT140 are Tolerated by the Inherent Resilience of the IFT Machinery.

IFT140 中与纤毛病相关的错义突变可通过 IFT 机制的固有弹性而被容忍

Beyer Tina, Diwan Gaurav D, Leonhard Tobias, Dahlke Katrin, Klose Franziska, Stehle Isabel F, Seda Marian, Bolz Sylvia, Woerz Franziska, Russell Robert B, Jenkins Dagan, Ueffing Marius, Boldt Karsten

Stochastic processes in development and disease

发展和疾病中的随机过程

Jenkins, Dagan; Chubb, Jonathan R; Galea, Gabriel

Identification of a wide spectrum of ciliary gene mutations in nonsyndromic biliary atresia patients implicates ciliary dysfunction as a novel disease mechanism

在非综合征性胆道闭锁患者中发现多种纤毛基因突变,提示纤毛功能障碍是一种新的疾病机制。

Lam, Wai-Yee; Tang, Clara Sze-Man; So, Man-Ting; Yue, Haibing; Hsu, Jacob Shujui; Chung, Patrick Ho-Yu; Nicholls, John M; Yeung, Fanny; Lee, Chun-Wai Davy; Ngo, Diem Ngoc; Nguyen, Pham Anh Hoa; Mitchison, Hannah M; Jenkins, Dagan; O'Callaghan, Christopher; Garcia-Barceló, Maria-Mercè; Lee, So-Lun; Sham, Pak-Chung; Lui, Vincent Chi-Hang; Tam, Paul Kwong-Hang

Generating Mutant Renal Cell Lines Using CRISPR Technologies

利用 CRISPR 技术生成突变肾细胞系

Perretta-Tejedor, Nuria; Freke, Grace; Seda, Marian; Long, David A; Jenkins, Dagan

An FDA-Approved Drug Screen for Compounds Influencing Craniofacial Skeletal Development and Craniosynostosis

FDA批准的用于筛选影响颅面骨骼发育和颅缝早闭化合物的药物

Seda, Marian; Geerlings, Maartje; Lim, Peggy; Jeyabalan-Srikaran, Jeshmi; Cichon, Ann-Christin; Scambler, Peter J; Beales, Philip L; Hernandez-Hernandez, Victor; Stoker, Andrew W; Jenkins, Dagan

Mutations in SNX14 Cause a Distinctive Autosomal-Recessive Cerebellar Ataxia and Intellectual Disability Syndrome

SNX14基因突变会导致一种独特的常染色体隐性遗传性小脑共济失调和智力障碍综合征

Zhu, Xiaofeng; Feng, Tao; Tayo, Bamidele O; Liang, Jingjing; Young, J Hunter; Franceschini, Nora; Smith, Jennifer A; Yanek, Lisa R; Sun, Yan V; Edwards, Todd L; Chen, Wei; Nalls, Mike; Fox, Ervin; Sale, Michele; Bottinger, Erwin; Rotimi, Charles; Liu, Yongmei; McKnight, Barbara; Liu, Kiang; Arnett, Donna K; Chakravati, Aravinda; Cooper, Richard S; Redline, Susan; Garber, Kathryn B; Ratzel, Sarah; Cullinan, Sara B; Hansen, Jeanne; Snow, Chelsi; Tuttle, Emily; Ghoneim, Dalia H; Yang, Chun-Song; Spencer, Adam; Gunter, Sonya A; Smyser, Christopher D; Gurnett, Christina A; Shinawi, Marwan; Dobyns, William B; Wheless, James; Halterman, Marc W; Jansen, Laura A; Paschal, Bryce M; Paciorkowski, Alex R; Thomas, Anna C; Williams, Hywel; Setó-Salvia, Núria; Bacchelli, Chiara; Jenkins, Dagan; O’Sullivan, Mary; Mengrelis, Konstantinos; Ishida, Miho; Ocaka, Louise; Chanudet, Estelle; James, Chela; Lescai, Francesco; Anderson, Glenn; Morrogh, Deborah; Ryten, Mina; Duncan, Andrew J; Pai, Yun Jin; Saraiva, Jorge M; Ramos, Fabiana; Farren, Bernadette; Saunders, Dawn; Vernay, Bertrand; Gissen, Paul; Straatmaan-Iwanowska, Anna; Baas, Frank; Wood, Nicholas W; Hersheson, Joshua; Houlden, Henry; Hurst, Jane; Scott, Richard; Bitner-Glindzicz, Maria; Moore, Gudrun E; Sousa, Sérgio B; Stanier, Philip

Mutations in SNX14 cause a distinctive autosomal-recessive cerebellar ataxia and intellectual disability syndrome

SNX14基因突变会导致一种独特的常染色体隐性遗传性小脑共济失调和智力障碍综合征。

Thomas, Anna C; Williams, Hywel; Setó-Salvia, Núria; Bacchelli, Chiara; Jenkins, Dagan; O'Sullivan, Mary; Mengrelis, Konstantinos; Ishida, Miho; Ocaka, Louise; Chanudet, Estelle; James, Chela; Lescai, Francesco; Anderson, Glenn; Morrogh, Deborah; Ryten, Mina; Duncan, Andrew J; Pai, Yun Jin; Saraiva, Jorge M; Ramos, Fabiana; Farren, Bernadette; Saunders, Dawn; Vernay, Bertrand; Gissen, Paul; Straatmaan-Iwanowska, Anna; Baas, Frank; Wood, Nicholas W; Hersheson, Joshua; Houlden, Henry; Hurst, Jane; Scott, Richard; Bitner-Glindzicz, Maria; Moore, Gudrun E; Sousa, Sérgio B; Stanier, Philip

Enhanced Maternal Origin of the 22q11.2 Deletion in Velocardiofacial and DiGeorge Syndromes

腭咽心综合征和迪乔治综合征中22q11.2缺失的母系起源增强

Twigg, Stephen R F; Lloyd, Deborah; Jenkins, Dagan; Elçioglu, Nursel E; Cooper, Christopher D O; Al-Sannaa, Nouriya; Annagür, Ali; Gillessen-Kaesbach, Gabriele; Hüning, Irina; Knight, Samantha J L; Goodship, Judith A; Keavney, Bernard D; Beales, Philip L; Gileadi, Opher; McGowan, Simon J; Wilkie, Andrew O M; Christoforou, Andrea; Mattheisen, Manuel; Giddaluru, Sudheer; Steen, Vidar M; Le Hellard, Stéphanie; Reilly, Philip R; Ionita-Laza, Iuliana; Buxbaum, Joseph D; Garber, Kathryn B; Ratzel, Sarah; Cullinan, Sara B; Mendez, Fernando L; Krahn, Thomas; Schrack, Bonnie; Krahn, Astrid-Maria; Veeramah, Krishna R; Woerner, August E; Fomine, Forka Leypey Mathew; Bradman, Neil; Thomas, Mark G; Karafet, Tatiana M; Hammer, Michael F; Delio, Maria; Guo, Tingwei; McDonald-McGinn, Donna M; Zackai, Elaine; Herman, Sean; Kaminetzky, Mark; Higgins, Anne Marie; Coleman, Karlene; Chow, Carolyn; Jalbrzikowski, Maria; Bearden, Carrie E; Bailey, Alice; Vangkilde, Anders; Olsen, Line; Olesen, Charlotte; Skovby, Flemming; Werge, Thomas M; Templin, Ludivine; Busa, Tiffany; Philip, Nicole; Swillen, Ann; Vermeesch, Joris R; Devriendt, Koen; Schneider, Maude; Dahoun, Sophie; Eliez, Stephan; Schoch, Kelly; Hooper, Stephen R; Shashi, Vandana; Samanich, Joy; Marion, Robert; van Amelsvoort, Therese; Boot, Erik; Klaassen, Petra; Duijff, Sasja N; Vorstman, Jacob; Yuen, Tracy; Silversides, Candice; Chow, Eva; Bassett, Anne; Frisch, Amos; Weizman, Abraham; Gothelf, Doron; Niarchou, Maria; van den Bree, Marianne; Owen, Michael J; Suñer, Damian Heine; Andreo, Jordi Rosell; Armando, Marco; Vicari, Stefano; Digilio, Maria Cristina; Auton, Adam; Kates, Wendy R; Wang, Tao; Shprintzen, Robert J; Emanuel, Beverly S; Morrow, Bernice E

Carpenter syndrome: extended RAB23 mutation spectrum and analysis of nonsense-mediated mRNA decay

卡彭特综合征:RAB23 突变谱的扩展及无义介导的 mRNA 衰变分析

Jenkins, Dagan; Baynam, Gareth; De Catte, Luc; Elcioglu, Nursel; Gabbett, Michael T; Hudgins, Louanne; Hurst, Jane A; Jehee, Fernanda Sarquis; Oley, Christine; Wilkie, Andrew O M

RAB23 mutations in Carpenter syndrome imply an unexpected role for hedgehog signaling in cranial-suture development and obesity

Carpenter综合征中的RAB23基因突变提示Hedgehog信号通路在颅缝发育和肥胖中发挥着意想不到的作用。

Jenkins, Dagan; Seelow, Dominik; Jehee, Fernanda S; Perlyn, Chad A; Alonso, Luis G; Bueno, Daniela F; Donnai, Dian; Josifova, Dragana; Mathijssen, Irene M J; Morton, Jenny E V; Orstavik, Karen Helene; Sweeney, Elizabeth; Wall, Steven A; Marsh, Jeffrey L; Nurnberg, Peter; Passos-Bueno, Maria Rita; Wilkie, Andrew O M