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

Myhre syndrome is caused by dominant-negative dysregulation of SMAD4 and other co-factors

Myhre 综合征是由 SMAD4 和其他辅助因子的显性负性失调引起的

Dimuthu Alankarage, Annabelle Enriquez, Robert D Steiner, Cathy Raggio, Megan Higgins, Di Milnes, David T Humphreys, Emma L Duncan, Duncan B Sparrow, Philip F Giampietro, Gavin Chapman, Sally L Dunwoodie

A KCNK16 mutation causing TALK-1 gain of function is associated with maturity-onset diabetes of the young

KCNK16 突变导致 TALK-1 功能获得增强,与年轻人的成年型糖尿病有关

Sarah M Graff, Stephanie R Johnson, Paul J Leo, Prasanna K Dadi, Matthew T Dickerson, Arya Y Nakhe, Aideen M McInerney-Leo, Mhairi Marshall, Karolina E Zaborska, Charles M Schaub, Matthew A Brown, David A Jacobson, Emma L Duncan

Heterozygous loss of WBP11 function causes multiple congenital defects in humans and mice

WBP11 功能杂合缺失导致人类和小鼠出现多种先天缺陷

Ella M M A Martin, Annabelle Enriquez, Duncan B Sparrow, David T Humphreys, Aideen M McInerney-Leo, Paul J Leo, Emma L Duncan, Kavitha R Iyer, Joelene A Greasby, Eddie Ip, Eleni Giannoulatou, Delicia Sheng, Elizabeth Wohler, Clémantine Dimartino, Jeanne Amiel, Yline Capri, Daphné Lehalle, Adi Mory, 

Mutations in MAP3K7 that Alter the Activity of the TAK1 Signaling Complex Cause Frontometaphyseal Dysplasia

MAP3K7基因突变改变TAK1信号复合物的活性,导致额干骺端发育不良

Emma M Wade,Philip B Daniel,Zandra A Jenkins,Aideen McInerney-Leo,Paul Leo,Tim Morgan,Marie Claude Addor,Lesley C Adès,Debora Bertola,Axel Bohring,Erin Carter,Tae-Joon Cho,Hans-Christoph Duba,Elaine Fletcher,Chong A Kim,Deborah Krakow,Eva Morava,Teresa Neuhann,Andrea Superti-Furga,Irma Veenstra-Knol,Dagmar Wieczorek,Louise C Wilson,Raoul C M Hennekam,Andrew J Sutherland-Smith,Tim M Strom,Andrew O M Wilkie,Matthew A Brown,Emma L Duncan,David M Markie,Stephen P Robertson

Mutations in human C2CD3 cause skeletal dysplasia and provide new insights into phenotypic and cellular consequences of altered C2CD3 function

人类 C2CD3 基因突变会导致骨骼发育不良,并为 C2CD3 功能改变的表型和细胞后果提供了新的见解

Claudio R Cortés, Aideen M McInerney-Leo, Ida Vogel, Maria C Rondón Galeano, Paul J Leo, Jessica E Harris, Lisa K Anderson, Patricia A Keith, Matthew A Brown, Mette Ramsing, Emma L Duncan, Andreas Zankl, Carol Wicking

Short-rib polydactyly and Jeune syndromes are caused by mutations in WDR60

短肋多指畸形和 Jeune 综合征是由 WDR60 基因突变引起的

Aideen M McInerney-Leo, Miriam Schmidts, Claudio R Cortés, Paul J Leo, Blanca Gener, Andrew D Courtney, Brooke Gardiner, Jessica A Harris, Yeping Lu, Mhairi Marshall; UK10K Consortium; Peter J Scambler, Philip L Beales, Matthew A Brown, Andreas Zankl, Hannah M Mitchison, Emma L Duncan, Carol Wicking