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

The contribution of de novo coding mutations to meningomyelocele

新发编码突变对脊髓脊膜膨出的影响

Ha, Yoo-Jin Jiny; Nisal, Ashna; Tang, Isaac; Lee, Chanjae; Jhamb, Ishani; Wallace, Cassidy; Howarth, Robyn; Schroeder, Sarah; Vong, Keng Ioi; Meave, Naomi; Jiwani, Fiza; Barrows, Chelsea; Lee, Sangmoon; Jiang, Nan; Patel, Arzoo; Bagga, Krisha; Banka, Niyati; Friedman, Liana; Blanco, Francisco A; Yu, Seyoung; Rhee, Soeun; Jeong, Hui Su; Plutzer, Isaac; Major, Michael B; Benoit, Béatrice; Poüs, Christian; Heffner, Caleb; Kibar, Zoha; Bot, Gyang Markus; Northrup, Hope; Au, Kit Sing; Strain, Madison; Ashley-Koch, Allison E; Finnell, Richard H; Le, Joan T; Meltzer, Hal S; Araujo, Camila; Machado, Helio R; Stevenson, Roger E; Yurrita, Anna; Mumtaz, Sara; Ahmed, Awais; Khara, Mulazim Hussain; Mutchinick, Osvaldo M; Medina-Bereciartu, José Ramón; Hildebrandt, Friedhelm; Melikishvili, Gia; Marwan, Ahmed I; Capra, Valeria; Noureldeen, Mahmoud M; Salem, Aida M S; Issa, Mahmoud Y; Zaki, Maha S; Xu, Libin; Lee, Ji Eun; Shin, Donghyuk; Alkelai, Anna; Shuldiner, Alan R; Kingsmore, Stephen F; Murray, Stephen A; Gee, Heon Yung; Miller, W Todd; Tolias, Kimberley F; Wallingford, John B; Kim, Sangwoo; Gleeson, Joseph G

Evaluating the feasibility of gene replacement strategies to treat MTRFR deficiency.

评估基因替代策略治疗 MTRFR 缺乏症的可行性

Pratt Samia L, Zarate-Mendez Mariana, Koludarova Lidiia, Jansson Sonja, Airavaara Mikko, Hlushchuk Irena, Coleman David, Heffner Caleb, Horvath Rita, Battersby Brendan J, Burgess Robert W

Amphiphilic shuttle peptide delivers base editor ribonucleoprotein to correct the CFTR R553X mutation in well-differentiated airway epithelial cells.

两亲性穿梭肽将碱基编辑器核糖核蛋白递送至分化良好的气道上皮细胞,以纠正 CFTR R553X 突变

Kulhankova Katarina, Cheng Anna X, Traore Soumba, Auger Maud, Pelletier Mia, Hervault Maxime, Wells Kevin D, Green Jonathan A, Byrne Addison, Nelson Benjamin, Sponchiado Mariana, Boosani Chandra, Heffner Caleb S, Snow Kathy J, Murray Stephen A, Villacreses Raul A, Rector Michael V, Gansemer Nicholas D, Stoltz David A, Allamargot Chantal, Couture Frédéric, Hemez Colin, Hallée Stéphanie, Barbeau Xavier, Harvey Mario, Lauvaux Coraline, Gaillet Bruno, Newby Gregory A, Liu David R, McCray Paul B Jr, Guay David

TMEM161B modulates radial glial scaffolding in neocortical development

TMEM161B 调控新皮层发育过程中放射状胶质支架的形成

Wang, Lu; Heffner, Caleb; Vong, Keng Ioi; Barrows, Chelsea; Ha, Yoo-Jin; Lee, Sangmoon; Lara-Gonzalez, Pablo; Jhamb, Ishani; Van Der Meer, Dennis; Loughnan, Robert; Parker, Nadine; Sievert, David; Mittal, Swapnil; Issa, Mahmoud Y; Andreassen, Ole A; Dale, Anders; Dobyns, William B; Zaki, Maha S; Murray, Stephen A; Gleeson, Joseph G

A novel allele of Alx4 results in reduced Fgf10 expression and failure of eyelid fusion in mice

Alx4 的一个新等位基因导致小鼠 Fgf10 表达降低和眼睑融合失败。

Curtain, Michelle; Heffner, Caleb S; Maddox, Dennis M; Gudis, Polyxeni; Donahue, Leah Rae; Murray, Stephen A

Kidney adysplasia and variable hydronephrosis, a new mutation affecting the odd-skipped related 1 gene in the mouse, causes variable defects in kidney development and hydronephrosis

肾发育不良和变异性肾积水,一种影响小鼠奇数跳跃相关基因1的新突变,会导致肾脏发育缺陷和肾积水。

Davisson, Muriel T; Cook, Susan A; Akeson, Ellen C; Liu, Don; Heffner, Caleb; Gudis, Polyxeni; Fairfield, Heather; Murray, Stephen A

Supporting conditional mouse mutagenesis with a comprehensive cre characterization resource

利用全面的 Cre 基因表征资源支持条件性小鼠诱变。

Heffner, Caleb S; Herbert Pratt, C; Babiuk, Randal P; Sharma, Yashoda; Rockwood, Stephen F; Donahue, Leah R; Eppig, Janan T; Murray, Stephen A

Transcriptional programs controlling perinatal lung maturation

控制围产期肺成熟的转录程序

Xu, Yan; Wang, Yanhua; Besnard, Valérie; Ikegami, Machiko; Wert, Susan E; Heffner, Caleb; Murray, Stephen A; Donahue, Leah Rae; Whitsett, Jeffrey A

Mouse gestation length is genetically determined

小鼠妊娠期由基因决定

Murray, Stephen A; Morgan, Judith L; Kane, Coleen; Sharma, Yashoda; Heffner, Caleb S; Lake, Jeffrey; Donahue, Leah Rae