Literature DB >> 27730629

The human knockout phenotype of PADI6 is female sterility caused by cleavage failure of their fertilized eggs.

S Maddirevula1, S Coskun2, K Awartani3, H Alsaif1, F M Abdulwahab1, F S Alkuraya1,4.   

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Year:  2016        PMID： 27730629     DOI： 10.1111/cge.12866

Source DB:  PubMed          Journal:  Clin Genet        ISSN： 0009-9163            Impact factor:   4.438


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  11 in total

1.  A genomics approach to females with infertility and recurrent pregnancy loss.

Authors:  Sateesh Maddirevula; Khalid Awartani; Serdar Coskun; Latifa F AlNaim; Niema Ibrahim; Firdous Abdulwahab; Mais Hashem; Saad Alhassan; Fowzan S Alkuraya
Journal:  Hum Genet       Date:  2020-03-14       Impact factor: 4.132

2.  Biallelic PADI6 variants linking infertility, miscarriages, and hydatidiform moles.

Authors:  JianHua Qian; Ngoc Minh Phuong Nguyen; Maryam Rezaei; Bo Huang; YongLing Tao; XiaoFei Zhang; Qi Cheng; HanJin Yang; Ao Asangla; Jacek Majewski; Rima Slim
Journal:  Eur J Hum Genet       Date:  2018-04-25       Impact factor: 4.246

3.  Female Infertility Caused by Mutations in the Oocyte-Specific Translational Repressor PATL2.

Authors:  Sateesh Maddirevula; Serdar Coskun; Saad Alhassan; Atif Elnour; Hessa S Alsaif; Niema Ibrahim; Firdous Abdulwahab; Stefan T Arold; Fowzan S Alkuraya
Journal:  Am J Hum Genet       Date:  2017-09-28       Impact factor: 11.025

Review 4.  Genetic factors as potential molecular markers of human oocyte and embryo quality.

Authors:  Qing Sang; Zhou Zhou; Jian Mu; Lei Wang
Journal:  J Assist Reprod Genet       Date:  2021-04-24       Impact factor: 3.412

Review 5.  Deimination, Intermediate Filaments and Associated Proteins.

Authors:  Julie Briot; Michel Simon; Marie-Claire Méchin
Journal:  Int J Mol Sci       Date:  2020-11-19       Impact factor: 5.923

6.  Lethal variants in humans: lessons learned from a large molecular autopsy cohort.

Authors:  Hanan E Shamseldin; Lama AlAbdi; Sateesh Maddirevula; Hessa S Alsaif; Fatema Alzahrani; Nour Ewida; Mais Hashem; Firdous Abdulwahab; Omar Abuyousef; Hiroyuki Kuwahara; Xin Gao; Fowzan S Alkuraya
Journal:  Genome Med       Date:  2021-10-13       Impact factor: 11.117

7.  Two novel mutations in PADI6 and TLE6 genes cause female infertility due to arrest in embryonic development.

Authors:  Juan Liu; Zongjian Tan; Jun He; Tingting Jin; Yuanyuan Han; Li Hu; Shengwen Huang
Journal:  J Assist Reprod Genet       Date:  2021-05-26       Impact factor: 3.412

8.  Loss-of-function maternal-effect mutations of PADI6 are associated with familial and sporadic Beckwith-Wiedemann syndrome with multi-locus imprinting disturbance.

Authors:  Maria Vittoria Cubellis; Laura Pignata; Ankit Verma; Angela Sparago; Rosita Del Prete; Maria Monticelli; Luciano Calzari; Vincenzo Antona; Daniela Melis; Romano Tenconi; Silvia Russo; Flavia Cerrato; Andrea Riccio
Journal:  Clin Epigenetics       Date:  2020-09-14       Impact factor: 6.551

Review 9.  Maternal effect genes: Update and review of evidence for a link with birth defects.

Authors:  Laura E Mitchell
Journal:  HGG Adv       Date:  2021-10-16

10.  PADI6 Regulates Trophoblast Cell Migration-Invasion Through the Hippo/YAP1 Pathway in Hydatidiform Moles.

Authors:  Bo Huang; Yating Zhao; Lin Zhou; Tingyu Gong; Jiawen Feng; Peilin Han; Jianhua Qian
Journal:  J Inflamm Res       Date:  2021-07-22
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