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

Excluding the Genomic Location of Pax2 Regulatory Elements for the Developing Mouse Eye.

不包括小鼠眼发育过程中 Pax2 调控元件的基因组位置

Ho Tzu-Hua, Santamaria-Munoz Daniela, Hamelynck Hollin, La Torre Anna, Glaser Tom, Brown Nadean L

Further Evidence for a Possible Role for ZFHX4 in Human Ocular Development and Disease

ZFHX4在人类眼部发育和疾病中可能发挥作用的进一步证据

Reis, Linda M; Zaidman, Gerald W; Thompson, Samuel; Muheisen, Sanaa; Glaser, Tom; Semina, Elena V

Novel Intragenic and Genomic Variants Highlight the Phenotypic Variability in HCCS-Related Disease

新的基因内和基因组变异凸显了HCCS相关疾病的表型变异性

Reis, Linda M; Basel, Donald; Bitoun, Pierre; Walton, David S; Glaser, Tom; Semina, Elena V

Novel CRB1 pathogenic variant in Chuuk families with Leber congenital amaurosis

Leber 先天性黑蒙 Chuuk 家族中的新 CRB1 致病性变异

Albakri, Amani; Pisuchpen, Phattrawan; Capasso, Jenina E; Schneider, Adele; Kopinsky, Sarina; Glaser, Tom; Chiang, John P-W; Yomai, Anamaria Akapito; McNear, Donna; Levin, Alex V

The rax homeobox gene is mutated in the eyeless axolotl, Ambystoma mexicanum

无眼墨西哥钝口螈(Ambystoma mexicanum)的rax同源异型盒基因发生突变。

Davis, Erik S; Voss, Gareth; Miesfeld, Joel B; Zarate-Sanchez, Juan; Voss, S Randal; Glaser, Tom

The Atoh7 remote enhancer provides transcriptional robustness during retinal ganglion cell development

Atoh7远程增强子在视网膜神经节细胞发育过程中提供转录稳定性。

Miesfeld, Joel B; Ghiasvand, Noor M; Marsh-Armstrong, Brennan; Marsh-Armstrong, Nicholas; Miller, Eric B; Zhang, Pengfei; Manna, Suman K; Zawadzki, Robert J; Brown, Nadean L; Glaser, Tom

Cycles of autoubiquitination and deubiquitination regulate the ERAD ubiquitin ligase Hrd1

自身泛素化和去泛素化循环调节 ERAD 泛素连接酶 Hrd1

Brian G Peterson, Morgan L Glaser, Tom A Rapoport, Ryan D Baldridge

Maternal Inheritance of a Recessive RBP4 Defect in Canine Congenital Eye Disease

犬先天性眼病中隐性RBP4缺陷的母系遗传

Kaukonen, Maria; Woods, Sean; Ahonen, Saija; Lemberg, Seppo; Hellman, Maarit; Hytönen, Marjo K; Permi, Perttu; Glaser, Tom; Lohi, Hannes

Glia hold it together

胶质细胞将它们连接在一起

Hufnagel, Robert B; Riesenberg, Amy N; Quinn, Malgorzata; Brzezinski, Joseph A 4th; Glaser, Tom; Brown, Nadean L; Sedwick, Caitlin

Focal facial dermal dysplasia, type IV, is caused by mutations in CYP26C1

IV 型局灶性面部皮肤发育不良是由 CYP26C1 基因突变引起的。

Slavotinek, Anne M; Mehrotra, Pavni; Nazarenko, Irina; Tang, Paul Ling-Fung; Lao, Richard; Cameron, Don; Li, Ben; Chu, Catherine; Chou, Chris; Marqueling, Ann L; Yahyavi, Mani; Cordoro, Kelly; Frieden, Ilona; Glaser, Tom; Prescott, Trine; Morren, Marie-Anne; Devriendt, Koen; Kwok, Pui-yan; Petkovich, Martin; Desnick, Robert J