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Select item 110430421.

Genetic etiology of truncus arteriosus excluding 22q11.2 deletion syndrome and identification of c.1617del, a prevalent variant in TMEM260, in the Japanese population

Hisao Yaoita, Eiichiro Kawai, Jun Takayama, Shinya Iwasawa, Naoya Saijo, Masayuki Abiko, Kouta Suzuki, Masato Kimura, Akira Ozawa, Gen Tamiya, Shigeo Kure, Atsuo Kikuchi

J Hum Genet. 2024; 69(5): 177–183. Published online 2024 Feb 13. doi: 10.1038/s10038-024-01223-y

Correction in:: J Hum Genet. 2024; 69(5): 185.

PMCID:: PMC11043042

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Select item 102141762.

The SHDRA syndrome-associated gene TMEM260 encodes a protein-specific O-mannosyltransferase

Ida Signe Bohse Larsen, Lorenzo Povolo, Luping Zhou, Weihua Tian, Kasper Johansen Mygind, John Hintze, Chen Jiang, Verity Hartill, Katrina Prescott, Colin A. Johnson, Sureni V. Mullegama, Allyn McConkie-Rosell, Marie McDonald, Lars Hansen, Sergey Y. Vakhrushev, Katrine T. Schjoldager, Henrik Clausen, Thomas Worzfeld, Hiren J. Joshi, Adnan Halim

Proc Natl Acad Sci U S A. 2023 May 23; 120(21): e2302584120. Published online 2023 May 15. doi: 10.1073/pnas.2302584120