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

Trio exome sequencing identifies de novo variants in novel candidate genes in 19.62% of CAKUT families

三重外显子组测序在19.62%的先天性肾脏和泌尿道畸形(CAKUT)家族中发现了新的候选基因中的新生变异。

Merz, Lea Maria; Kolvenbach, Caroline M; Wang, Chunyan; Mertens, Nils David; Seltzsam, Steve; Mansour, Bshara; Zheng, Bixia; Schneider, Sophia; Schierbaum, Luca; Hölzel, Selina; Salmanullah, Daanya; Pantel, Dalia; Kalkar, Gina; Connaughton, Dervla M; Mann, Nina; Wu, Chen-Han Wilfred; Kause, Franziska; Nakayama, Makiko; Dai, Rufeng; Schneider, Ronen; Buerger, Florian; Nicolas-Frank, Camille; Yousef, Kirollos; Lemberg, Katharina; Saida, Ken; Yu, Seyoung; Elmubarak, Izzeldin; Franken, Gijs A C; Lomjansook, Kraisoon; Braun, Alina; Bauer, Stuart B; Rodig, Nancy M; Somers, Michael J G; Traum, Avram Z; Stein, Deborah R; Daga, Ankana; Baum, Michelle A; Daouk, Ghaleb H; Awad, Hazem S; Eid, Loai A; El Desoky, Sherif; Shalaby, Mohammed A; Kari, Jameela A; Ooda, Said; Fathy, Hanan M; Soliman, Neveen A; Nabhan, Marwa; Abdelrahman, Safaa; Hilger, Alina C; Mane, Shrikant M; Ferguson, Michael A; Tasic, Velibor; Shril, Shirlee; Hildebrandt, Friedhelm

Exome Sequencing in Saudi Arabian Pediatric Kidney Disease Single-Center Cohort

沙特阿拉伯儿童肾脏疾病单中心队列的外显子组测序

Lemberg, Katharina; Shalaby, Mohamed A; Zion, Elena; Saida, Ken; Yousef, Kirollos; Schneider, Ronen; Mertens, Nils D; Mansour, Bshara; Kolvenbach, Caroline M; Merz, Lea M; Riedhammer, Korbinian M; Braun, Alina; Hölzel, Selina; Yu, Seyoung; Lomjansook, Kraisoon; Kalkar, Gina; Marchuk, Daniel; Elmubarak, Izzeldin; Franken, Gijs A C; Shril, Shirlee; El Desoky, Sherif; Kari, Jameela A; Buerger, Florian; Hildebrandt, Friedhelm

Phenotypic quantification of Nphs1-deficient mice

Nphs1缺陷小鼠的表型定量分析

Schneider, Ronen; Mansour, Bshara; Kolvenbach, Caroline M; Buerger, Florian; Salmanullah, Daanya; Lemberg, Katharina; Merz, Lea M; Mertens, Nils D; Saida, Ken; Yousef, Kirollos; Franken, Gijs A C; Bao, Aaron; Yu, Seyoung; Hölzel, Selina; Nicolas-Frank, Camille; Steinsapir, Andrew; Goncalves, Kevin A; Shril, Shirlee; Hildebrandt, Friedhelm

Regenerative Role of Lrig1+ Cells in Kidney Repair

Lrig1+细胞在肾脏修复中的再生作用

Lee, Yura; Kim, Kwang H; Park, Jihwan; Kang, Hyun Mi; Kim, Sung-Hee; Jeong, Haengdueng; Lee, Buhyun; Lee, Nakyum; Cho, Yejin; Kim, Gyeong Dae; Yu, Seyoung; Gee, Heon Yung; Bok, Jinwoong; Hamilton, Maxwell S; Gewin, Leslie; Aronow, Bruce J; Lim, Kyung-Min; Coffey, Robert J; Nam, Ki Taek

Quantifiable and reproducible phenotypic assessment of a constitutive knockout mouse model for congenital nephrotic syndrome of the Finnish type.

对芬兰型先天性肾病综合征的组成型基因敲除小鼠模型进行可量化和可重复的表型评估

Lemberg Katharina, Mertens Nils D, Yousef Kirollos, Schneider Ronen, Merz Lea M, Mansour Bshara, Salmanullah Daanya, Kolvenbach Caroline M, Saida Ken, Yu Seyoung, Hölzel Selina, Steinsapir Andrew, Goncalves Kevin A, Nicolas Frank Camille, Franken Gijs A C, Shril Shirlee, Buerger Florian, Hildebrandt Friedhelm

Quantitative phenotyping of Nphs1 knockout mice as a prerequisite for gene replacement studies.

对 Nphs1 基因敲除小鼠进行定量表型分析是基因替代研究的先决条件

Buerger Florian, Merz Lea M, Saida Ken, Yu Seyoung, Salmanullah Daanya, Lemberg Katharina, Mertens Nils D, Mansour Bshara, Kolvenbach Caroline M, Yousef Kirollos, Hölzel Selina, Braun Alina, Franken Gijs A C, Goncalves Kevin A, Steinsapir Andrew, Endlich Nicole, Schneider Ronen, Shril Shirlee, Hildebrandt Friedhelm

Clinical Heterogeneity Associated with MYO7A Variants Relies on Affected Domains

MYO7A变异相关的临床异质性取决于受影响的结构域

Joo, Sun Young; Na, Gina; Kim, Jung Ah; Yoo, Jee Eun; Kim, Da Hye; Kim, Se Jin; Jang, Seung Hyun; Yu, Seyoung; Kim, Hye-Youn; Choi, Jae Young; Gee, Heon Yung; Jung, Jinsei

Microbiome analysis reveals that Ralstonia is responsible for decreased renal function in patients with ulcerative colitis

微生物组分析表明,拉尔斯顿氏菌是溃疡性结肠炎患者肾功能下降的原因。

Kim, Jung Min; Rim, John Hoon; Kim, Da Hye; Kim, Hye-Youn; Choi, Sung Kyoung; Kim, Dong Yun; Choi, Yo Jun; Yu, Seyoung; Cheon, Jae Hee; Gee, Heon Yung

Olfactory Receptor OR7A17 Expression Correlates with All- Trans Retinoic Acid (ATRA)-Induced Suppression of Proliferation in Human Keratinocyte Cells

嗅觉受体 OR7A17 表达与全反式维甲酸 (ATRA) 诱导的人类角质形成细胞增殖抑制相关

Hyeyoun Kim, See-Hyoung Park, Sae Woong Oh, Kitae Kwon, Se Jung Park, Eunbi Yu, Seyoung Yang, Jung Yoen Park, Seoyoung Choi, Seoyoun Yang, Su Bin Han, Minkyung Song, Jae Youl Cho, Jongsung Lee