A dominant negative variant of RAB5B disrupts maturation of surfactant protein B and surfactant protein C.
Proceedings Of The National Academy Of Sciences Of The United States Of America
Huang, Huiyan H; Pan, Jiehong J; Spielberg, David R DR; Hanchard, Neil A NA; Scott, Daryl A DA; Burrage, Lindsay C LC; Dai, Hongzheng H; Murdock, David D; Rosenfeld, Jill A JA; Mohammad, Ariz A; Huang, Tao T; Lindsey, Anika G AG; Kim, Hyori H; Chen, Jian J; Ramu, Avinash A; Morrison, Stephanie A SA; Dawson, Zachary D ZD; Hu, Alex Z AZ; Tycksen, Eric E; Silverman, Gary A GA; Baldridge, Dustin D; Wambach, Jennifer A JA; , ; Pak, Stephen C SC; Brody, Steven L SL; Schedl, Tim T
Publication Date: 2022-02-08
Variant appearance in text: TTN: 26528C>T; Thr8843Met
A dominant negative variant of RAB5B disrupts maturation of surfactant protein B and surfactant protein C.
Proceedings Of The National Academy Of Sciences Of The United States Of America
Huang, Huiyan H; Pan, Jiehong J; Spielberg, David R DR; Hanchard, Neil A NA; Scott, Daryl A DA; Burrage, Lindsay C LC; Dai, Hongzheng H; Murdock, David D; Rosenfeld, Jill A JA; Mohammad, Ariz A; Huang, Tao T; Lindsey, Anika G AG; Kim, Hyori H; Chen, Jian J; Ramu, Avinash A; Morrison, Stephanie A SA; Dawson, Zachary D ZD; Hu, Alex Z AZ; Tycksen, Eric E; Silverman, Gary A GA; Baldridge, Dustin D; Wambach, Jennifer A JA; , ; Pak, Stephen C SC; Brody, Steven L SL; Schedl, Tim T
Publication Date: 2022-02-08
Variant appearance in text: TTN: 26528C>T; Thr8843Met
Low neoantigen expression and poor T-cell priming underlie early immune escape in colorectal cancer.
Nature Cancer
Westcott, Peter M K PMK; Sacks, Nathan J NJ; Schenkel, Jason M JM; Ely, Zackery A ZA; Smith, Olivia O; Hauck, Haley H; Jaeger, Alex M AM; Zhang, Daniel D; Backlund, Coralie M CM; Beytagh, Mary C MC; Patten, J J JJ; Elbashir, Ryan R; Eng, George G; Irvine, Darrell J DJ; Yilmaz, Omer H OH; Jacks, Tyler T
Publication Date: 2021-10
Variant appearance in text: TTN: 26528C>T; Thr8843Met
Genetic evaluation of cardiomyopathies in Qatar identifies enrichment of pathogenic sarcomere gene variants and possible founder disease mutations in the Arabs.
Molecular Genetics & Genomic Medicine
Al-Shafai, Kholoud N KN; Al-Hashemi, Mohammed M; Manickam, Chidambaram C; Musa, Rania R; Selvaraj, Senthil S; Syed, Najeeb N; Vempalli, Fazulur F; Ali, Muneera M; Yacoub, Magdi M; Estivill, Xavier X
Publication Date: 2021-07
Variant appearance in text: TTN: 26528C>T; Thr8843Met
Genetic evaluation of cardiomyopathies in Qatar identifies enrichment of pathogenic sarcomere gene variants and possible founder disease mutations in the Arabs.
Molecular Genetics & Genomic Medicine
Al-Shafai, Kholoud N KN; Al-Hashemi, Mohammed M; Manickam, Chidambaram C; Musa, Rania R; Selvaraj, Senthil S; Syed, Najeeb N; Vempalli, Fazulur F; Ali, Muneera M; Yacoub, Magdi M; Estivill, Xavier X
Publication Date: 2021-07
Variant appearance in text: TTN: 26528C>T; Thr8843Met
Next-generation DNA sequencing identifies novel gene variants and pathways involved in specific language impairment.
Scientific Reports
Chen, Xiaowei Sylvia XS; Reader, Rose H RH; Hoischen, Alexander A; Veltman, Joris A JA; Simpson, Nuala H NH; Francks, Clyde C; Newbury, Dianne F DF; Fisher, Simon E SE
Publication Date: 2017-04-25
Variant appearance in text: TTN: T8843M; rs72648990