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

Targeting TGF-β signaling, oxidative stress, and cellular senescence rescues osteoporosis in gerodermia osteodysplastica.

针对 TGF-β 信号传导、氧化应激和细胞衰老可挽救老年性骨发育不良的骨质疏松症

Chan W L, Bucher C H, Goldes J, Ma A C, Steiner M, Willie B M, Mundlos S, Kornak U

The Genetic Basis of Moyamoya Disease

烟雾病的遗传基础

Mertens, R; Graupera, M; Gerhardt, H; Bersano, A; Tournier-Lasserve, E; Mensah, M A; Mundlos, S; Vajkoczy, P

A new subtype of brachydactyly type B caused by point mutations in the bone morphogenetic protein antagonist NOGGIN

一种新的B型短指畸形亚型是由骨形态发生蛋白拮抗剂NOGGIN的点突变引起的。

Lehmann, K; Seemann, P; Silan, F; Goecke, T O; Irgang, S; Kjaer, K W; Kjaergaard, S; Mahoney, M J; Morlot, S; Reissner, C; Kerr, B; Wilkie, A O M; Mundlos, S

Mutations in WNT7A cause a range of limb malformations, including Fuhrmann syndrome and Al-Awadi/Raas-Rothschild/Schinzel phocomelia syndrome

WNT7A基因突变会导致一系列肢体畸形,包括福尔曼综合征和阿瓦迪/拉斯-罗斯柴尔德/辛泽尔海豹肢畸形综合征。

Woods, C G; Stricker, S; Seemann, P; Stern, R; Cox, J; Sherridan, E; Roberts, E; Springell, K; Scott, S; Karbani, G; Sharif, S M; Toomes, C; Bond, J; Kumar, D; Al-Gazali, L; Mundlos, S

A mutation in the receptor binding site of GDF5 causes Mohr-Wriedt brachydactyly type A2

GDF5受体结合位点的突变会导致Mohr-Wriedt A2型短指畸形。

Kjaer, K W; Eiberg, H; Hansen, L; van der Hagen, C B; Rosendahl, K; Tommerup, N; Mundlos, S

Cerebellar hypoplasia and quadrupedal locomotion in humans as a recessive trait mapping to chromosome 17p

人类小脑发育不全和四足行走是一种隐性性状,定位于17号染色体短臂。

Türkmen, S; Demirhan, O; Hoffmann, K; Diers, A; Zimmer, C; Sperling, K; Mundlos, S

A homozygous BMPR1B mutation causes a new subtype of acromesomelic chondrodysplasia with genital anomalies

BMPR1B纯合突变导致一种新的肢端中节软骨发育不良亚型,并伴有生殖器畸形。

Demirhan, O; Türkmen, S; Schwabe, G C; Soyupak, S; Akgül, E; Tastemir, D; Karahan, D; Mundlos, S; Lehmann, K

Molecular genetics of intestinal glucose transport

肠道葡萄糖转运的分子遗传学

Wright, E M; Turk, E; Zabel, B; Mundlos, S; Dyer, J