B9d1-KO 基因敲除小鼠

1. Hopp, Katharina, Heyer, Christina M, Hommerding, Cynthia J, Rossetti, Sandro, Harris, Peter C. 2011. B9D1 is revealed as a novel Meckel syndrome (MKS) gene by targeted exon-enriched next-generation sequencing and deletion analysis. In Human molecular genetics, 20, 2524-34. doi:10.1093/hmg/ddr151. https://pubmed.ncbi.nlm.nih.gov/21493627/

2. Katiyar, Disha, Anderson, Neil, Bommireddipalli, Shobhana, Cooper, Sandra, Goel, Himanshu. 2020. Two novel B9D1 variants causing Joubert syndrome: Utility of mRNA and splicing studies. In European journal of medical genetics, 63, 104000. doi:10.1016/j.ejmg.2020.104000. https://pubmed.ncbi.nlm.nih.gov/32622957/

3. Kolvenbach, Caroline M, van der Ven, Amelie T, Kause, Franziska, Reutter, Heiko, Hildebrandt, Friedhelm. 2021. Exome survey of individuals affected by VATER/VACTERL with renal phenotypes identifies phenocopies and novel candidate genes. In American journal of medical genetics. Part A, 185, 3784-3792. doi:10.1002/ajmg.a.62447. https://pubmed.ncbi.nlm.nih.gov/34338422/

4. Romani, Marta, Micalizzi, Alessia, Kraoua, Ichraf, Gouider-Khouja, Neziha, Valente, Enza Maria. 2014. Mutations in B9D1 and MKS1 cause mild Joubert syndrome: expanding the genetic overlap with the lethal ciliopathy Meckel syndrome. In Orphanet journal of rare diseases, 9, 72. doi:10.1186/1750-1172-9-72. https://pubmed.ncbi.nlm.nih.gov/24886560/