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

Deficiency of FRAS1-related extracellular matrix 1 (FREM1) causes congenital diaphragmatic hernia in humans and mice

FRAS1相关细胞外基质1 (FREM1) 缺乏会导致人类和小鼠发生先天性膈疝。

Beck, Tyler F; Veenma, Danielle; Shchelochkov, Oleg A; Yu, Zhiyin; Kim, Bum Jun; Zaveri, Hitisha P; van Bever, Yolande; Choi, Sunju; Douben, Hannie; Bertin, Terry K; Patel, Pragna I; Lee, Brendan; Tibboel, Dick; de Klein, Annelies; Stockton, David W; Justice, Monica J; Scott, Daryl A

The chicken frizzle feather is due to an α-keratin (KRT75) mutation that causes a defective rachis.

鸡的卷曲羽毛是由于α-角蛋白(KRT75)突变导致的,这种突变会导致羽毛轴缺陷

Ng Chen Siang, Wu Ping, Foley John, Foley Anne, McDonald Merry-Lynn, Juan Wen-Tau, Huang Chih-Jen, Lai Yu-Ting, Lo Wen-Sui, Chen Chih-Feng, Leal Suzanne M, Zhang Huanmin, Widelitz Randall B, Patel Pragna I, Li Wen-Hsiung, Chuong Cheng-Ming

X-linked congenital hypertrichosis syndrome is associated with interchromosomal insertions mediated by a human-specific palindrome near SOX3

X连锁先天性多毛症与SOX3基因附近由人类特异性回文序列介导的染色体间插入有关。

Zhu, Hongwen; Shang, Dandan; Sun, Miao; Choi, Sunju; Liu, Qing; Hao, Jiajie; Figuera, Luis E; Zhang, Feng; Choy, Kwong Wai; Ao, Yang; Liu, Yang; Zhang, Xiao-Lin; Yue, Fengzhen; Wang, Ming-Rong; Jin, Li; Patel, Pragna I; Jing, Tao; Zhang, Xue

Prevalence of common disease-associated variants in Asian Indians

印度裔人群中常见疾病相关变异的患病率

Pemberton, Trevor J; Mehta, Niyati U; Witonsky, David; Di Rienzo, Anna; Allayee, Hooman; Conti, David V; Patel, Pragna I

Identification of novel genes expressed during mouse tooth development by microarray gene expression analysis.

利用微阵列基因表达分析鉴定小鼠牙齿发育过程中表达的新基因

Pemberton Trevor J, Li Fang-Yuan, Oka Shoji, Mendoza-Fandino Gustavo A, Hsu Ya-Hsuan, Bringas Pablo Jr, Chai Yang, Snead Malcolm L, Mehrian-Shai Ruty, Patel Pragna I