Loading…
Depletion of Uric Acid Due to SLC22A12 (URAT1) Loss-of-Function Mutation Causes Endothelial Dysfunction in Hypouricemia
Sugihara, Shinobu, Hisatome, Ichiro, Kuwabara, Masanari, Niwa, Koichiro, Maharani, Nani, Kato, Masahiko, Ogino, Kazuhide, Hamada, Toshihiro, Ninomiya, Haruaki, Higashi, Yukihito, Ichida, Kimiyoshi, Yamamoto, Kazuhiro
Published in Circulation Journal (2015)
Published in Circulation Journal (2015)
Get full text
Journal Article
Loading…
Combined immunodeficiency caused by a loss-of-function mutation in DNA polymerase delta 1
Cui, Ye, Keles, Sevgi, Charbonnier, Louis-Marie, Julé, Amélie M., Henderson, Lauren, Celik, Seyma Celikbilek, Reisli, Ismail, Shen, Chen, Xie, Wen Jun, Schmitz-Abe, Klaus, Wu, Hao, Chatila, Talal A.
Published in Journal of allergy and clinical immunology (01.01.2020)
Published in Journal of allergy and clinical immunology (01.01.2020)
Get full text
Journal Article
Loading…
Loading…
Loss-of-function mutation in GATA4 causes anomalies of human testicular development
Lourenço, Diana, Brauner, Raja, Rybczyńska, Magda, Nihoul-Fékété, Claire, McElreavey, Ken, Bashamboo, Anu
Published in Proceedings of the National Academy of Sciences - PNAS (25.01.2011)
Published in Proceedings of the National Academy of Sciences - PNAS (25.01.2011)
Get full text
Journal Article
Loading…
CASZ1 loss-of-function mutation associated with congenital heart disease
Huang, Ri-Tai, Xue, Song, Wang, Juan, Gu, Jian-Yun, Xu, Jia-Hong, Li, Yan-Jie, Li, Ning, Yang, Xiao-Xiao, Liu, Hua, Zhang, Xiao-Dong, Qu, Xin-Kai, Xu, Ying-Jia, Qiu, Xing-Biao, Li, Ruo-Gu, Yang, Yi-Qing
Published in Gene (20.12.2016)
Published in Gene (20.12.2016)
Get full text
Journal Article
Loading…
SMAD4 loss-of-function mutation predisposes to congenital heart disease
Wang, Yin, Xu, Ying-Jia, Yang, Chen-Xi, Huang, Ri-Tai, Xue, Song, Yuan, Fang, Yang, Yi-Qing
Published in European journal of medical genetics (01.01.2023)
Published in European journal of medical genetics (01.01.2023)
Get full text
Journal Article
Loading…
Loss-of-Function Mutation in the Dioxygenase-Encoding FTO Gene Causes Severe Growth Retardation and Multiple Malformations
Boissel, Sarah, Reish, Orit, Proulx, Karine, Kawagoe-Takaki, Hiroko, Sedgwick, Barbara, Yeo, Giles S.H., Meyre, David, Golzio, Christelle, Molinari, Florence, Kadhom, Noman, Etchevers, Heather C., Saudek, Vladimir, Farooqi, I. Sadaf, Froguel, Philippe, Lindahl, Tomas, O'Rahilly, Stephen, Munnich, Arnold, Colleaux, Laurence
Published in American journal of human genetics (01.07.2009)
Published in American journal of human genetics (01.07.2009)
Get full text
Journal Article
Loading…
A Novel NKX2.5 Loss-of-Function Mutation Associated With Congenital Bicuspid Aortic Valve
Qu, Xin-Kai, Qiu, Xing-Biao, Yuan, Fang, Wang, Juan, Zhao, Cui-Mei, Liu, Xing-Yuan, Zhang, Xian-Ling, Li, Ruo-Gu, Xu, Ying-Jia, Hou, Xu-Min, Fang, Wei-Yi, Liu, Xu, Yang, Yi-Qing
Published in The American journal of cardiology (15.12.2014)
Published in The American journal of cardiology (15.12.2014)
Get full text
Journal Article
Loading…
ISL1 loss-of-function mutation contributes to congenital heart defects
Ma, Lan, Wang, Juan, Li, Li, Qiao, Qi, Di, Ruo-Min, Li, Xiu-Mei, Xu, Ying-Jia, Zhang, Min, Li, Ruo-Gu, Qiu, Xing-Biao, Li, Xun, Yang, Yi-Qing
Published in Heart and vessels (01.04.2019)
Published in Heart and vessels (01.04.2019)
Get full text
Journal Article
Loading…
Homozygous loss-of-function mutation of the LEPREL1 gene causes severe non-syndromic high myopia with early-onset cataract
Guo, H., Tong, P., Peng, Y., Wang, T., Liu, Y., Chen, J., Li, Y., Tian, Q., Hu, Y., Zheng, Y., Xiao, L., Xiong, W., Pan, Q., Hu, Z., Xia, K.
Published in Clinical genetics (01.12.2014)
Published in Clinical genetics (01.12.2014)
Get full text
Journal Article
Loading…
A homozygous loss-of-function mutation in inositol monophosphatase 1 (IMPA1) causes severe intellectual disability
Figueiredo, T, Melo, U S, Pessoa, A L S, Nobrega, P R, Kitajima, J P, Rusch, H, Vaz, F, Lucato, L T, Zatz, M, Kok, F, Santos, S
Published in Molecular psychiatry (01.08.2016)
Published in Molecular psychiatry (01.08.2016)
Get full text
Journal Article
Loading…
Loss-of-Function Mutation in Tryptophan Hydroxylase-2 Identified in Unipolar Major Depression
Zhang, Xiaodong, Gainetdinov, Raul R., Beaulieu, Jean-Martin, Sotnikova, Tatyana D., Burch, Lauranell H., Williams, Redford B., Schwartz, David A., Krishnan, K.Ranga R., Caron, Marc G.
Published in Neuron (Cambridge, Mass.) (06.01.2005)
Published in Neuron (Cambridge, Mass.) (06.01.2005)
Get full text
Journal Article
Loading…
A novel loss-of-function mutation of PBK associated with human kidney stone disease
Nettuwakul, Choochai, Sawasdee, Nunghathai, Praditsap, Oranud, Rungroj, Nanyawan, Pasena, Arnat, Dechtawewat, Thanyaporn, Deejai, Nipaporn, Sritippayawan, Suchai, Rojsatapong, Santi, Chaowagul, Wipada, Yenchitsomanus, Pa-thai
Published in Scientific reports (24.06.2020)
Published in Scientific reports (24.06.2020)
Get full text
Journal Article
Loading…
A novel loss-of-function mutation in LACC1 underlies hereditary juvenile arthritis with extended intra-familial phenotypic heterogeneity
Butbul Aviel, Yonatan, Ofir, Ayala, Ben-Izhak, Ofer, Vlodavsky, Euvgeni, Karbian, Netanel, Brik, Riva, Mevorach, Dror, Magen, Daniella
Published in Rheumatology (Oxford, England) (02.10.2021)
Published in Rheumatology (Oxford, England) (02.10.2021)
Get full text
Journal Article
Loading…
A Novel Loss of Function Mutation of PCSK9 Gene in White Subjects With Low-Plasma Low-Density Lipoprotein Cholesterol
Fasano, Tommaso, Cefalù, Angelo B., Di Leo, Enza, Noto, Davide, Pollaccia, Daniela, Bocchi, Letizia, Valenti, Vincenza, Bonardi, Renato, Guardamagna, Ornella, Averna, Maurizio, Tarugi, Patrizia
Published in Arteriosclerosis, thrombosis, and vascular biology (01.03.2007)
Published in Arteriosclerosis, thrombosis, and vascular biology (01.03.2007)
Get full text
Journal Article
Loading…
The loss-of-function mutation of CETP affects HDLc levels but not ApoA1 in patients with acute myocardial infarction
Li, Weiping, Liu, Xin, Huang, Chunyi, Liu, Liusheng, Tan, Xuerui, Wang, Xingyu
Published in Nutrition, metabolism, and cardiovascular diseases (08.02.2021)
Published in Nutrition, metabolism, and cardiovascular diseases (08.02.2021)
Get full text
Journal Article
Loading…
A New TBX5 Loss-of-Function Mutation Contributes to Congenital Heart Defect and Atrioventricular Block
Zhang, Yan, Sun, Yu-Min, Xu, Ying-Jia, Zhao, Cui-Mei, Yuan, Fang, Guo, Xiao-Juan, Guo, Yu-Han, Yang, Chen-Xi, Gu, Jia-Ning, Qiao, Qi, Wang, Jun, Yang, Yi-Qing
Published in International Heart Journal (30.07.2020)
Published in International Heart Journal (30.07.2020)
Get full text
Journal Article
Loading…
Loss-of-function Mutation in PMVK Causes Autosomal Dominant Disseminated Superficial Porokeratosis
Wang, Jiuxiang, Liu, Ying, Liu, Fei, Huang, Changzheng, Han, Shanshan, Lv, Yuexia, Liu, Chun-Jie, Zhang, Su, Qin, Yayun, Ling, Lei, Gao, Meng, Yu, Shanshan, Li, Chang, Huang, Mi, Liao, Shengjie, Hu, Xuebin, Lu, Zhaojing, Liu, Xiliang, Jiang, Tao, Tang, Zhaohui, Zhang, Huiping, Guo, An-Yuan, Liu, Mugen
Published in Scientific reports (07.04.2016)
Published in Scientific reports (07.04.2016)
Get full text
Journal Article
Loading…
KLF15 Loss-of-Function Mutation Underlying Atrial Fibrillation as well as Ventricular Arrhythmias and Cardiomyopathy
Li, Ning, Xu, Ying-Jia, Shi, Hong-Yu, Yang, Chen-Xi, Guo, Yu-Han, Li, Ruo-Gu, Qiu, Xing-Biao, Yang, Yi-Qing, Zhang, Min
Published in Genes (12.03.2021)
Published in Genes (12.03.2021)
Get full text
Journal Article