Publications:

Expression of a Truncated Form of ODAD1 Associated with an Unusually Mild Primary Ciliary Dyskinesia Phenotype.

International Journal Of Molecular Sciences

Ostrowski, Lawrence E LE; Yin, Weining W; Smith, Amanda J AJ; Sears, Patrick R PR; Bustamante-Marin, Ximena M XM; Dang, Hong H; Hildebrandt, Friedhelm F; Daniels, Leigh Anne LA; Capps, Nicole A NA; Sullivan, Kelli M KM; Leigh, Margaret W MW; Zariwala, Maimoona A MA; Knowles, Michael R MR

Publication Date: 2022-02-03

Variant appearance in text: SI: 853G>A

PubMed Link: 35163670

Variant Present in the following documents:

• Main text
• ijms-23-01753.pdf

View BVdb publication page

Expression of a Truncated Form of ODAD1 Associated with an Unusually Mild Primary Ciliary Dyskinesia Phenotype.

International Journal Of Molecular Sciences

Ostrowski, Lawrence E LE; Yin, Weining W; Smith, Amanda J AJ; Sears, Patrick R PR; Bustamante-Marin, Ximena M XM; Dang, Hong H; Hildebrandt, Friedhelm F; Daniels, Leigh Anne LA; Capps, Nicole A NA; Sullivan, Kelli M KM; Leigh, Margaret W MW; Zariwala, Maimoona A MA; Knowles, Michael R MR

Publication Date: 2022-02-03

Variant appearance in text: SI: 853G>A

PubMed Link: 35163670

Variant Present in the following documents:

• Main text
• ijms-23-01753.pdf

View BVdb publication page

Human cGAS catalytic domain has an additional DNA-binding interface that enhances enzymatic activity and liquid-phase condensation.

Proceedings Of The National Academy Of Sciences Of The United States Of America

Xie, Wei W; Lama, Lodoe L; Adura, Carolina C; Tomita, Daisuke D; Glickman, J Fraser JF; Tuschl, Thomas T; Patel, Dinshaw J DJ

Publication Date: 2019-06-11

Variant appearance in text: SI: E285K

PubMed Link: 31142647

Variant Present in the following documents:

• Main text

View BVdb publication page