| Crystal structure of human peptidylarginine deiminase type VI (PAD6) provides insights into its inactivity. | Crystal structure of human peptidylarginine deiminase type VI (PAD6) provides insights into its inactivity.
Ranaivoson FM, Bande R, Cardaun I, De Riso A, Gärtner A, Loke P, Reinisch C, Vogirala P, Beaumont E., Free PMC Article | 05/23/2024 |
| Case report: human early embryonic arrest in a consanguineous Chinese family caused by a novel missense variant of PADI6. | Case report: human early embryonic arrest in a consanguineous Chinese family caused by a novel missense variant of PADI6.
Zhang M, Bi X, Ge B, Wei H, Gong L, Wang J, Wang B. | 11/14/2023 |
| Novel biallelic mutations in PADI6 in patients with early embryonic arrest. | Novel biallelic mutations in PADI6 in patients with early embryonic arrest.
Dong J, Fu J, Yan Z, Li L, Qiu Y, Zeng Y, Liu R, Chen B, Shi R, Diao F, Wang L, Shi Q, Sang Q. | 06/18/2022 |
| Genetic Variation in PADI6-PADI4 on 1p36.13 Is Associated with Common Forms of Human Generalized Epilepsy. | Genetic Variation in PADI6-PADI4 on 1p36.13 Is Associated with Common Forms of Human Generalized Epilepsy.
Buono RJ, Bradfield JP, Wei Z, Sperling MR, Dlugos DJ, Privitera MD, French JA, Lo W, Cossette P, Schachter SC, Basehore H, Lohoff FW, Grant SFA, Ferraro TN, Hakonarson H., Free PMC Article | 02/19/2022 |
| Novel pathogenic variants in NLRP7, NLRP5, and PADI6 in patients with recurrent hydatidiform moles and reproductive failure. | Novel pathogenic variants in NLRP7, NLRP5, and PADI6 in patients with recurrent hydatidiform moles and reproductive failure.
Rezaei M, Suresh B, Bereke E, Hadipour Z, Aguinaga M, Qian J, Bagga R, Fardaei M, Hemida R, Jagadeesh S, Majewski J, Slim R. | 02/19/2022 |
| Biallelic PADI6 variants cause multilocus imprinting disturbances and miscarriages in the same family. | Biallelic PADI6 variants cause multilocus imprinting disturbances and miscarriages in the same family.
Eggermann T, Kadgien G, Begemann M, Elbracht M., Free PMC Article | 01/15/2022 |
| Two novel mutations in PADI6 and TLE6 genes cause female infertility due to arrest in embryonic development. | Two novel mutations in PADI6 and TLE6 genes cause female infertility due to arrest in embryonic development.
Liu J, Tan Z, He J, Jin T, Han Y, Hu L, Huang S., Free PMC Article | 12/11/2021 |
| Loss-of-function maternal-effect mutations of PADI6 are associated with familial and sporadic Beckwith-Wiedemann syndrome with multi-locus imprinting disturbance. | Loss-of-function maternal-effect mutations of PADI6 are associated with familial and sporadic Beckwith-Wiedemann syndrome with multi-locus imprinting disturbance.
Cubellis MV, Pignata L, Verma A, Sparago A, Del Prete R, Monticelli M, Calzari L, Antona V, Melis D, Tenconi R, Russo S, Cerrato F, Riccio A., Free PMC Article | 10/23/2021 |
| New biallelic mutations in PADI6 cause recurrent preimplantation embryonic arrest characterized by direct cleavage. | New biallelic mutations in PADI6 cause recurrent preimplantation embryonic arrest characterized by direct cleavage.
Zheng W, Chen L, Dai J, Dai C, Guo J, Lu C, Gong F, Lu G, Lin G., Free PMC Article | 11/28/2020 |
| We now report 15 further pedigrees in which offspring had disturbance of imprinting, while their mothers had rare, predicted-deleterious variants in maternal effect genes, including NLRP2, NLRP7 and PADI6 | Maternal variants in NLRP and other maternal effect proteins are associated with multilocus imprinting disturbance in offspring.
Begemann M, Rezwan FI, Beygo J, Docherty LE, Kolarova J, Schroeder C, Buiting K, Chokkalingam K, Degenhardt F, Wakeling EL, Kleinle S, González Fassrainer D, Oehl-Jaschkowitz B, Turner CLS, Patalan M, Gizewska M, Binder G, Bich Ngoc CT, Chi Dung V, Mehta SG, Baynam G, Hamilton-Shield JP, Aljareh S, Lokulo-Sodipe O, Horton R, Siebert R, Elbracht M, Temple IK, Eggermann T, Mackay DJG., Free PMC Article | 10/5/2019 |
| We demonstrated that PADI6 co-localizes with NLRP7 in human oocytes and preimplantation embryos and reviewed the morphology and genotypes of four products of conception from our patient | Biallelic PADI6 variants linking infertility, miscarriages, and hydatidiform moles.
Qian J, Nguyen NMP, Rezaei M, Huang B, Tao Y, Zhang X, Cheng Q, Yang H, Asangla A, Majewski J, Slim R., Free PMC Article | 02/23/2019 |
| PADI6 gene loss causes very early embryonic lethality. | The human knockout phenotype of PADI6 is female sterility caused by cleavage failure of their fertilized eggs.
Maddirevula S, Coskun S, Awartani K, Alsaif H, Abdulwahab FM, Alkuraya FS. | 12/22/2018 |
| Mutations in PADI6 Cause Female Infertility Characterized by Early Embryonic Arrest | Mutations in PADI6 Cause Female Infertility Characterized by Early Embryonic Arrest.
Xu Y, Shi Y, Fu J, Yu M, Feng R, Sang Q, Liang B, Chen B, Qu R, Li B, Yan Z, Mao X, Kuang Y, Jin L, He L, Sun X, Wang L., Free PMC Article | 05/6/2017 |
| Crystallographic determination of 14-3-3-sigma binding sites in the human peptidylarginine deiminase type VI. | Identification and structural characterization of two 14-3-3 binding sites in the human peptidylarginine deiminase type VI.
Rose R, Rose M, Ottmann C. | 02/23/2013 |
| Observational study and genome-wide association study of gene-disease association. (HuGE Navigator) | Common variants on 1p36 and 1q42 are associated with cutaneous basal cell carcinoma but not with melanoma or pigmentation traits.
Stacey SN, Gudbjartsson DF, Sulem P, Bergthorsson JT, Kumar R, Thorleifsson G, Sigurdsson A, Jakobsdottir M, Sigurgeirsson B, Benediktsdottir KR, Thorisdottir K, Ragnarsson R, Scherer D, Rudnai P, Gurzau E, Koppova K, Höiom V, Botella-Estrada R, Soriano V, Juberías P, Grasa M, Carapeto FJ, Tabuenca P, Gilaberte Y, Gudmundsson J, Thorlacius S, Helgason A, Thorlacius T, Jonasdottir A, Blondal T, Gudjonsson SA, Jonsson GF, Saemundsdottir J, Kristjansson K, Bjornsdottir G, Sveinsdottir SG, Mouy M, Geller F, Nagore E, Mayordomo JI, Hansson J, Rafnar T, Kong A, Olafsson JH, Thorsteinsdottir U, Stefansson K. | 11/2/2008 |
| This study is the first description of the human PADI6 gene and encoded protein, and the first step towards a better understanding of the coordinated regulation of PADI gene expression. | Comparative analysis of the mouse and human peptidylarginine deiminase gene clusters reveals highly conserved non-coding segments and a new human gene, PADI6.
Chavanas S, Méchin MC, Takahara H, Kawada A, Nachat R, Serre G, Simon M. | 01/21/2010 |
| Cloning, gene organization and expression of peptidylarginine deiminase type 6. | cDNA cloning, gene organization and expression analysis of human peptidylarginine deiminase type VI.
Zhang J, Dai J, Zhao E, Lin Y, Zeng L, Chen J, Zheng H, Wang Y, Li X, Ying K, Xie Y, Mao Y. | 01/21/2010 |