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

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

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

Expanding the spectrum of novel candidate genes using trio exome sequencing and identification of monogenic cause in 27.5% of 320 families with steroid-resistant nephrotic syndrome

利用三重外显子组测序扩大了候选基因的范围,并在320个激素抵抗性肾病综合征家族中27.5%的病例中鉴定出单基因病因。

Schneider, Ronen; Shril, Shirlee; Buerger, Florian; Deutsch, Konstantin; Yousef, Kirollos; Frank, Camille N; Onuchic-Whitford, Ana C; Kitzler, Thomas M; Mao, Youying; Klämbt, Verena; Zahoor, Muhammad Y; Lemberg, Katharina; Majmundar, Amar J; Mansour, Bshara; Saida, Ken; Seltzsam, Steve; Kolvenbach, Caroline M; Merz, Lea Maria; Mertens, Nils D; Hermle, Tobias; Mann, Nina; Pantel, Dalia; Halawi, Abdul A; Bao, Aaron; Schierbaum, Luca; Schneider, Sophia; Salmanullah, Daanya; Ben-Dov, Iddo Z; Sagiv, Itamar; Eid, Loai A; Awad, Hazem Subhi H; Al Saffar, Muna; Soliman, Neveen A; Nabhan, Marwa M; Kari, Jameela A; El Desoky, Sherif; Shalaby, Mohamed A; Ooda, Said; Fathy, Hanan M; Mane, Shrikant; Lifton, Richard P; Somers, Michael J G; Hildebrandt, Friedhelm

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

Prioritization of Monogenic Congenital Anomalies of the Kidney and Urinary Tract Candidate Genes with Existing Single-Cell Transcriptomics Data of the Human Fetal Kidney

利用现有的人类胎儿肾脏单细胞转录组学数据,对肾脏和泌尿道单基因先天性异常候选基因进行优先排序

Schierbaum, Luca M; Schneider, Sophia; Buerger, Florian; Halawi, Abdul Aziz; Seltzsam, Steve; Wang, Chunyan; Zheng, Bixia; Wu, Chen-Han Wilfried; Dai, Rufeng; Connaughton, Dervla M; Salmanullah, Daanya; Nakayama, Makiko; Mann, Nina; Shril, Shirlee; Hildebrandt, Friedhelm

Reverse phenotyping facilitates disease allele calling in exome sequencing of patients with CAKUT

反向表型分析有助于在先天性肾脏和泌尿道畸形(CAKUT)患者的外显子组测序中识别致病等位基因。

Seltzsam, Steve; Wang, Chunyan; Zheng, Bixia; Mann, Nina; Connaughton, Dervla M; Wu, Chen-Han Wilfred; Schneider, Sophia; Schierbaum, Luca; Kause, Franziska; Kolvenbach, Caroline M; Nakayama, Makiko; Dai, Rufeng; Ottlewski, Isabel; Schneider, Ronen; Deutsch, Konstantin; Buerger, Florian; Klämbt, Verena; Mao, Youying; Onuchic-Whitford, Ana C; Nicolas-Frank, Camille; Yousef, Kirollos; Pantel, Dalia; Lai, Ethan W; Salmanullah, Daanya; Majmundar, Amar J; Bauer, Stuart B; Rodig, Nancy M; Somers, Michael J G; Traum, Avram Z; Stein, Deborah R; Daga, Ankana; Baum, Michelle A; Daouk, Ghaleb H; Tasic, Velibor; Awad, Hazem S; Eid, Loai A; El Desoky, Sherif; Shalaby, Mohammed; Kari, Jameela A; Fathy, Hanan M; Soliman, Neveen A; Mane, Shrikant M; Shril, Shirlee; Ferguson, Michael A; Hildebrandt, Friedhelm

Mutations of the Transcriptional Corepressor ZMYM2 Cause Syndromic Urinary Tract Malformations

转录共抑制因子ZMYM2的突变导致综合征性泌尿道畸形

Dervla M Connaughton,Rufeng Dai,Danielle J Owen,Jonathan Marquez,Nina Mann,Adda L Graham-Paquin,Makiko Nakayama,Etienne Coyaud,Estelle M N Laurent,Jonathan R St-Germain,Lot Snijders Blok,Arianna Vino,Verena Klämbt,Konstantin Deutsch,Chen-Han Wilfred Wu,Caroline M Kolvenbach,Franziska Kause,Isabel Ottlewski,Ronen Schneider,Thomas M Kitzler,Amar J Majmundar,Florian Buerger,Ana C Onuchic-Whitford,Mao Youying,Amy Kolb,Daanya Salmanullah,Evan Chen,Amelie T van der Ven,Jia Rao,Hadas Ityel,Steve Seltzsam,Johanna M Rieke,Jing Chen,Asaf Vivante,Daw-Yang Hwang,Stefan Kohl,Gabriel C Dworschak,Tobias Hermle,Mariëlle Alders,Tobias Bartolomaeus,Stuart B Bauer,Michelle A Baum,Eva H Brilstra,Thomas D Challman,Jacob Zyskind,Carrie E Costin , Katrina M Dipple , Floor A Duijkers , Marcia Ferguson , David R Fitzpatrick , Roger Fick , Ian A Glass , Peter J Hulick , Antonie D Kline , Ilona Krey , Selvin Kumar , Weining Lu , Elysa J Marco , Ingrid M Wentzensen,Heather C Mefford , Konrad Platzer,Inna S Povolotskaya , Juliann M Savatt,Natalia V Shcherbakova , Prabha Senguttuvan , Audrey E Squire , Deborah R Stein,Isabelle Thiffault , Victoria Y Voinova , Michael J G Somers,Michael A Ferguson,Avram Z Traum,Ghaleb H Daouk,Ankana Daga,Nancy M Rodig,Paulien A Terhal,Ellen van Binsbergen,Loai A Eid , Velibor Tasic , Hila Milo Rasouly , Tze Y Lim , Dina F Ahram , Ali G Gharavi , Heiko M Reutter , Heidi L Rehm , Daniel G MacArthur , Monkol Lek , Kristen M Laricchia , Richard P Lifton , Hong Xu,Shrikant M Mane , Simone Sanna-Cherchi , Andrew D Sharrocks,Brian Raught,Simon E Fisher , Maxime Bouchard,Mustafa K Khokha,Shirlee Shril,Friedhelm Hildebrandt

Short sirolimus half-life in pediatric renal transplant recipients on a calcineurin inhibitor-free protocol

在接受无钙调神经磷酸酶抑制剂方案治疗的儿科肾移植受者中,西罗莫司半衰期较短。

Schachter, Asher D; Meyers, K E; Spaneas, L D; Palmer, J A; Salmanullah, M; Baluarte, J; Brayman, K L; Harmon, W E