Warning: Undefined array key "mm" in /www/wwwroot/www.ai-bt.com/si.php on line 10 Deprecated: trim(): Passing null to parameter #1 ($string) of type string is deprecated in /www/wwwroot/www.ai-bt.com/si.php on line 10 A novel homozygous sequence variant in GLI1 underlies first case of autosomal recessive pre-axial polydactyly.

× No keyword cloud information.

6 in total

1. ZPA Regulatory Sequence Variants in Chinese Patients With Preaxial Polydactyly: Genetic and Clinical Characteristics.

Authors: Lei Zeng; Jie-Yuan Jin; Fang-Mei Luo; Yue Sheng; Pan-Feng Wu; Rong Xiang
Journal: Front Pediatr Date: 2022-05-16 Impact factor: 3.569

2. RAB23 coordinates early osteogenesis by repressing FGF10-pERK1/2 and GLI1.

Authors: Md Rakibul Hasan; Maarit Takatalo; Hongqiang Ma; Ritva Rice; Tuija Mustonen; David Pc Rice
Journal: Elife Date: 2020-07-14 Impact factor: 8.140

3. Exome sequencing revealed a novel loss-of-function variant in the GLI3 transcriptional activator 2 domain underlies nonsyndromic postaxial polydactyly.

Authors: Muhammad Umair; Naveed Wasif; Alia M Albalawi; Khushnooda Ramzan; Majid Alfadhel; Wasim Ahmad; Sulman Basit
Journal: Mol Genet Genomic Med Date: 2019-05-21 Impact factor: 2.183

4. GLIS Family Zinc Finger 1 was First Linked With Preaxial Polydactyly I in Humans by Stepwise Genetic Analysis.

Authors: Jie-Yuan Jin; Pan-Feng Wu; Fang-Mei Luo; Bing-Bing Guo; Lei Zeng; Liang-Liang Fan; Ju-Yu Tang; Rong Xiang
Journal: Front Cell Dev Biol Date: 2022-01-11

Review 5. Molecular Bases of Human Malformation Syndromes Involving the SHH Pathway: GLIA/R Balance and Cardinal Phenotypes.

Authors: Yo Niida; Sumihito Togi; Hiroki Ura
Journal: Int J Mol Sci Date: 2021-12-02 Impact factor: 5.923

6. Deleterious Rare Mutations of GLI1 Dysregulate Sonic Hedgehog Signaling in Human Congenital Heart Disease.

Authors: Rui Peng; Binbin Li; Shuxia Chen; Zhiwen Shi; Liwei Yu; Yunqian Gao; Xueyan Yang; Lei Lu; Hongyan Wang
Journal: Front Cardiovasc Med Date: 2022-04-04

6 in total