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

Autosomal-Recessive Mutations in MESD Cause Osteogenesis Imperfecta

MESD基因的常染色体隐性突变导致成骨不全

Moosa, Shahida; Yamamoto, Guilherme L; Garbes, Lutz; Keupp, Katharina; Beleza-Meireles, Ana; Moreno, Carolina Araujo; Valadares, Eugenia Ribeiro; de Sousa, Sérgio B; Maia, Sofia; Saraiva, Jorge; Honjo, Rachel S; Kim, Chong Ae; Cabral de Menezes, Hamilton; Lausch, Ekkehart; Lorini, Pablo Villavicencio; Lamounier, Arsonval Jr; Carniero, Tulio Canella Bezerra; Giunta, Cecilia; Rohrbach, Marianne; Janner, Marco; Semler, Oliver; Beleggia, Filippo; Li, Yun; Yigit, Gökhan; Reintjes, Nadine; Altmüller, Janine; Nürnberg, Peter; Cavalcanti, Denise P; Zabel, Bernhard; Warman, Matthew L; Bertola, Debora R; Wollnik, Bernd; Netzer, Christian

Against all odds: blended phenotypes of three single-gene defects

出乎意料的是:三种单基因缺陷的混合表型

Li, Yong; Salfelder, Anika; Schwab, Karl Otfried; Grünert, Sarah Catharina; Velten, Tanja; Lütjohann, Dieter; Villavicencio-Lorini, Pablo; Matysiak-Scholze, Uta; Zabel, Bernhard; Köttgen, Anna; Lausch, Ekkehart

Kaiso mediates human ICR1 methylation maintenance and H19 transcriptional fine regulation

Kaiso介导人类ICR1甲基化维持和H19转录精细调控。

Bohne, Florian; Langer, David; Martiné, Ursula; Eider, Claudia S; Cencic, Regina; Begemann, Matthias; Elbracht, Miriam; Bülow, Luzie; Eggermann, Thomas; Zechner, Ulrich; Pelletier, Jerry; Zabel, Bernhard Ulrich; Enklaar, Thorsten; Prawitt, Dirk

FAM111A mutations result in hypoparathyroidism and impaired skeletal development

FAM111A基因突变会导致甲状旁腺功能减退和骨骼发育障碍。

Unger, Sheila; Górna, Maria W; Le Béchec, Antony; Do Vale-Pereira, Sonia; Bedeschi, Maria Francesca; Geiberger, Stefan; Grigelioniene, Giedre; Horemuzova, Eva; Lalatta, Faustina; Lausch, Ekkehart; Magnani, Cinzia; Nampoothiri, Sheela; Nishimura, Gen; Petrella, Duccio; Rojas-Ringeling, Francisca; Utsunomiya, Akari; Zabel, Bernhard; Pradervand, Sylvain; Harshman, Keith; Campos-Xavier, Belinda; Bonafé, Luisa; Superti-Furga, Giulio; Stevenson, Brian; Superti-Furga, Andrea

Clinical Utility Gene Card for: campomelic dysplasia

临床实用基因卡:弯状骨发育不良

Scherer, Gerd; Zabel, Bernhard; Nishimura, Gen

Behavioral phenotype in five individuals with de novo mutations within the GRIN2B gene

GRIN2B基因内发生新生突变的五名个体的行为表型

Freunscht, Inga; Popp, Bernt; Blank, Rainer; Endele, Sabine; Moog, Ute; Petri, Holger; Prott, Eva-Christina; Reis, Andre; Rübo, Jochen; Zabel, Bernhard; Zenker, Martin; Hebebrand, Johannes; Wieczorek, Dagmar

Pseudoachondroplasia and multiple epiphyseal dysplasia: a 7-year comprehensive analysis of the known disease genes identify novel and recurrent mutations and provides an accurate assessment of their relative contribution

假性软骨发育不全和多发性骨骺发育不良:一项历时7年的已知致病基因综合分析,发现了新的和复发性突变,并准确评估了它们各自的贡献。

Jackson, Gail C; Mittaz-Crettol, Laureane; Taylor, Jacqueline A; Mortier, Geert R; Spranger, Juergen; Zabel, Bernhard; Le Merrer, Martine; Cormier-Daire, Valerie; Hall, Christine M; Offiah, Amaka; Wright, Michael J; Savarirayan, Ravi; Nishimura, Gen; Ramsden, Simon C; Elles, Rob; Bonafe, Luisa; Superti-Furga, Andrea; Unger, Sheila; Zankl, Andreas; Briggs, Michael D

Chondrodysplasia and abnormal joint development associated with mutations in IMPAD1, encoding the Golgi-resident nucleotide phosphatase, gPAPP

软骨发育不良和关节发育异常与编码高尔基体驻留核苷酸磷酸酶gPAPP的IMPAD1基因突变有关。

Vissers, Lisenka E L M; Lausch, Ekkehart; Unger, Sheila; Campos-Xavier, Ana Belinda; Gilissen, Christian; Rossi, Antonio; Del Rosario, Marisol; Venselaar, Hanka; Knoll, Ute; Nampoothiri, Sheela; Nair, Mohandas; Spranger, Jürgen; Brunner, Han G; Bonafé, Luisa; Veltman, Joris A; Zabel, Bernhard; Superti-Furga, Andrea

Viperin mRNA is a novel target for the human RNase MRP/RNase P endoribonuclease

Viperin mRNA 是人类 RNase MRP/RNase P 核糖核酸内切酶的一个新的靶标

Mattijssen, Sandy; Hinson, Ella R; Onnekink, Carla; Hermanns, Pia; Zabel, Bernhard; Cresswell, Peter; Pruijn, Ger J M

Interaction of TGFβ and BMP signaling pathways during chondrogenesis.

软骨形成过程中TGFβ和BMP信号通路的相互作用

Keller Bettina, Yang Tao, Chen Yuqing, Munivez Elda, Bertin Terry, Zabel Bernhard, Lee Brendan