Publications:

Whole-exome sequencing identified a novel heterozygous mutation of SALL1 and a new homozygous mutation of PTPRQ in a Chinese family with Townes-Brocks syndrome and hearing loss.

Bmc Medical Genomics

Yang, Guangxian G; Yin, Yi Y; Tan, Zhiping Z; Liu, Jian J; Deng, Xicheng X; Yang, Yifeng Y

Publication Date: 2021-01-21

Variant appearance in text: APC: 99T>G; His33Gln

PubMed Link: 33478437

Variant Present in the following documents:

• 12920_2021_871_MOESM2_ESM.xls, sheet 1

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KCTD1 mutants in scalp‑ear‑nipple syndrome and AP‑2α P59A in Char syndrome reciprocally abrogate their interactions, but can regulate Wnt/β‑catenin signaling.

Molecular Medicine Reports

Hu, Lingyu L; Chen, Li L; Yang, Liu L; Ye, Zi Z; Huang, Wenhuan W; Li, Xinxin X; Liu, Qing Q; Qiu, Junlu J; Ding, Xiaofeng X

Publication Date: 2020-11

Variant appearance in text: APC: H33Q

PubMed Link: 33000225

Variant Present in the following documents:

• Main text
• mmr-22-05-3895.pdf

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KCTD1 suppresses canonical Wnt signaling pathway by enhancing β-catenin degradation.

Plos One

Li, Xinxin X; Chen, Cheng C; Wang, Fangmei F; Huang, Wenhuan W; Liang, Zhongheng Z; Xiao, Yuzhong Y; Wei, Ke K; Wan, Zhenxing Z; Hu, Xiang X; Xiang, Shuanglin S; Ding, Xiaofeng X; Zhang, Jian J

Publication Date: 2014

Variant appearance in text: APC: H33Q

PubMed Link: 24736394

Variant Present in the following documents:

• Main text
• pone.0094343.pdf

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