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

Biallelic SLC13A1 loss-of-function variants result in impaired sulfate transport and skeletal phenotypes, including short stature, scoliosis, and skeletal dysplasia

SLC13A1双等位基因功能缺失变异会导致硫酸盐转运受损和骨骼表型异常,包括身材矮小、脊柱侧弯和骨骼发育不良。

Tise, Christina G; Ashton, Katie; de Hayr, Lachlan; Lee, Kun-Di; Patkar, Omkar L; Krzesinski, Emma; Bassetti, Jennifer A; Carter, Erin M; Raggio, Cathleen; Zankl, Andreas; Khanshour, Anas M; Atala, Kristhen N; Rios, Jonathan J; Wise, Carol A; Zhu, Ying; Zhang, Futao; Roscioli, Tony; Buckley, Michael; Harvey, Robert J; Dawson, Paul A

Dominant missense variants in SREBF2 are associated with complex dermatological, neurological, and skeletal abnormalities.

SREBF2 中的显性错义变异与复杂的皮肤病、神经系统疾病和骨骼疾病有关

Moulton Matthew J, Atala Kristhen, Zheng Yiming, Dutta Debdeep, Grange Dorothy K, Lin Wen-Wen, Wegner Daniel J, Wambach Jennifer A, Duker Angela L, Bober Michael B, Kratz Lisa, Wise Carol A, Oxendine Ila, Khanshour Anas, Wangler Michael F, Yamamoto Shinya, Cole F Sessions, Rios Jonathan, Bellen Hugo J

RAB1A haploinsufficiency phenocopies the 2p14-p15 microdeletion and is associated with impaired neuronal differentiation

RAB1A单倍体不足的表型与2p14-p15微缺失相似,并且与神经元分化受损有关。

Rios, Jonathan J; Li, Yang; Paria, Nandina; Bohlender, Ryan J; Huff, Chad; Rosenfeld, Jill A; Liu, Pengfei; Bi, Weimin; Haga, Kentaro; Fukuda, Mitsunori; Vashisth, Shayal; Kaur, Kiran; Chahrour, Maria H; Bober, Michael B; Duker, Angela L; Ladha, Farah A; Hanchard, Neil A; Atala, Kristhen; Khanshour, Anas M; Smith, Linsley; Wise, Carol A; Delgado, Mauricio R