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    ZP1 zona pellucida glycoprotein 1 [ Homo sapiens (human) ]

    Gene ID: 22917, updated on 2-Nov-2024

    GeneRIFs: Gene References Into Functions

    GeneRIFPubMed TitleDate
    Novel variants in ZP1, ZP2 and ZP3 associated with empty follicle syndrome and abnormal zona pellucida.

    Novel variants in ZP1, ZP2 and ZP3 associated with empty follicle syndrome and abnormal zona pellucida.
    Sun L, Tong K, Liu W, Tian Y, Liu D, Huang G, Li J.

    05/5/2023
    A Novel Homozygous Nonsense Mutation in ZP1 Causes Female Infertility due to Empty Follicle Syndrome.

    A Novel Homozygous Nonsense Mutation in ZP1 Causes Female Infertility due to Empty Follicle Syndrome.
    Zou T, Xi Q, Liu Z, Li Z, Hou M, Zhu L, Jin L, Zhang X.

    01/11/2023
    A recurrent ZP1 variant is responsible for oocyte maturation defect with degenerated oocytes in infertile females.

    A recurrent ZP1 variant is responsible for oocyte maturation defect with degenerated oocytes in infertile females.
    Loeuillet C, Dhellemmes M, Cazin C, Kherraf ZE, Fourati Ben Mustapha S, Zouari R, Thierry-Mieg N, Arnoult C, Ray PF., Free PMC Article

    06/18/2022
    Novel mutations in ZP1: Expanding the mutational spectrum associated with empty follicle syndrome in infertile women.

    Novel mutations in ZP1: Expanding the mutational spectrum associated with empty follicle syndrome in infertile women.
    Wu L, Li M, Yin M, Ou Y, Yan Z, Kuang Y, Yan Z, Li B.

    01/22/2022
    A novel homozygous nonsense mutation in zona pellucida 1 (ZP1) causes human female empty follicle syndrome.

    A novel homozygous nonsense mutation in zona pellucida 1 (ZP1) causes human female empty follicle syndrome.
    Wang J, Yang X, Sun X, Ma L, Yin Y, He G, Zhang Y, Zhou J, Cai L, Liu J, Ma X., Free PMC Article

    12/11/2021
    Novel ZP1 pathogenic variants identified in an infertile patient and a successful live birth following ICSI treatment.

    Novel ZP1 pathogenic variants identified in an infertile patient and a successful live birth following ICSI treatment.
    Chu K, He Y, Wang L, Ji Y, Hao M, Pang W, Liu Y, Sun N, Yang F, Li W.

    06/12/2021
    Zona Pellucida Proteins, Fibrils, and Matrix.

    Zona Pellucida Proteins, Fibrils, and Matrix.
    Litscher ES, Wassarman PM.

    06/5/2021
    Novel mutations in ZP1 and ZP2 cause primary infertility due to empty follicle syndrome and abnormal zona pellucida.

    Novel mutations in ZP1 and ZP2 cause primary infertility due to empty follicle syndrome and abnormal zona pellucida.
    Luo G, Zhu L, Liu Z, Yang X, Xi Q, Li Z, Duan J, Jin L, Zhang X., Free PMC Article

    06/5/2021
    Novel biallelic loss-of-function variants in ZP1 identified in an infertile female with empty follicle syndrome.

    Novel biallelic loss-of-function variants in ZP1 identified in an infertile female with empty follicle syndrome.
    Liu M, Shen Y, Zhang X, Wang X, Li D, Wang Y., Free PMC Article

    05/29/2021
    Heterozygous mutations in ZP1 and ZP3 cause formation disorder of ZP and female infertility in human.

    Heterozygous mutations in ZP1 and ZP3 cause formation disorder of ZP and female infertility in human.
    Cao Q, Zhao C, Zhang X, Zhang H, Lu Q, Wang C, Hu Y, Ling X, Zhang J, Huo R., Free PMC Article

    05/15/2021
    Homozygous Splice Site Mutation in ZP1 Causes Familial Oocyte Maturation Defect.

    Homozygous Splice Site Mutation in ZP1 Causes Familial Oocyte Maturation Defect.
    Okutman Ö, Demirel C, Tülek F, Pfister V, Büyük U, Muller J, Charlet-Berguerand N, Viville S., Free PMC Article

    03/27/2021
    ZP1 mutations are associated with empty follicle syndrome: evidence for the existence of an intact oocyte and a zona pellucida in follicles up to the early antral stage. A case report.

    ZP1 mutations are associated with empty follicle syndrome: evidence for the existence of an intact oocyte and a zona pellucida in follicles up to the early antral stage. A case report.
    Dai C, Chen Y, Hu L, Du J, Gong F, Dai J, Zhang S, Wang M, Chen J, Guo J, Zheng W, Lu C, Wu Y, Lu G, Lin G.

    10/3/2020
    Study report a characterization of ZP1 proteins carrying mutations from infertile patients, which suggests that, in human, filament cross-linking by ZP1 is crucial to form a stable zona pellucida (ZP) and map the function of ZP1 to its ZP-N1 domain and determine crystal structures of ZP-N1 homodimers from a chicken homolog of ZP1.

    Molecular basis of egg coat cross-linking sheds light on ZP1-associated female infertility.
    Nishimura K, Dioguardi E, Nishio S, Villa A, Han L, Matsuda T, Jovine L., Free PMC Article

    10/26/2019
    Our findings presented compound heterozygous mutations in ZP1 associated with Empty follicle syndrome (EFS) and abnormal oocytes and provided further new evidence for the genetic basis of EFS and support for the genetic diagnosis of infertile individuals

    Novel mutation in the ZP1 gene and clinical implications.
    Yuan P, Li R, Li D, Zheng L, Ou S, Zhao H, Zhang Q, Wang W., Free PMC Article

    08/31/2019
    Mutations in ZP1, ZP2, and ZP3 might affect the corresponding protein expression, secretion, and interaction, thus providing a mechanistic explanation for the phenotypes for female infertility.

    Novel mutations in ZP1, ZP2, and ZP3 cause female infertility due to abnormal zona pellucida formation.
    Zhou Z, Ni C, Wu L, Chen B, Xu Y, Zhang Z, Mu J, Li B, Yan Z, Fu J, Wang W, Zhao L, Dong J, Sun X, Kuang Y, Sang Q, Wang L.

    05/25/2019
    this study identified a homozygous frameshift mutation in ZP1 in six family members with a form of infertility with an autosomal recessive mode of inheritance.

    Mutant ZP1 in familial infertility.
    Huang HL, Lv C, Zhao YC, Li W, He XM, Li P, Sha AG, Tian X, Papasian CJ, Deng HW, Lu GX, Xiao HM., Free PMC Article

    04/19/2014
    observed sequence variations in exons of ZP1 gene in women with infertility of unknown origin who exhibit abnormal zona pellucida; sperm-ovum interactions appear relatively normal in these patients [CASE REPORTS]

    Genetic and physiological study of morphologically abnormal human zona pellucida.
    Margalit M, Paz G, Yavetz H, Yogev L, Amit A, Hevlin-Schwartz T, Gupta SK, Kleiman SE.

    04/27/2013
    The 'ZP domain' module of human ZP1 has functional activity and may have a role during fertilization in humans.

    'ZP domain' of human zona pellucida glycoprotein-1 binds to human spermatozoa and induces acrosomal exocytosis.
    Ganguly A, Bansal P, Gupta T, Gupta SK., Free PMC Article

    02/26/2011
    ZP1 binds to capacitated spermatozoa and induces acrosomal exocytosis.

    In humans, zona pellucida glycoprotein-1 binds to spermatozoa and induces acrosomal exocytosis.
    Ganguly A, Bukovsky A, Sharma RK, Bansal P, Bhandari B, Gupta SK.

    12/4/2010
    Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)

    Polymorphisms in innate immunity genes and risk of childhood leukemia.
    Han S, Lan Q, Park AK, Lee KM, Park SK, Ahn HS, Shin HY, Kang HJ, Koo HH, Seo JJ, Choi JE, Ahn YO, Chanock SJ, Kim H, Rothman N, Kang D., Free PMC Article

    06/30/2010
    Observational study of gene-disease association. (HuGE Navigator)See all PubMed (5) articles

    Study of 18 functional hemostatic polymorphisms in mucocutaneous bleeding disorders.
    Antón AI, González-Conejero R, Roldán V, Quiroga T, Sánchez-Vega B, Corral J, Vicente V, Mezzano D.

    Risk of meningioma and common variation in genes related to innate immunity.
    Rajaraman P, Brenner AV, Neta G, Pfeiffer R, Wang SS, Yeager M, Thomas G, Fine HA, Linet MS, Rothman N, Chanock SJ, Inskip PD.

    Common variation in genes related to innate immunity and risk of adult glioma.
    Rajaraman P, Brenner AV, Butler MA, Wang SS, Pfeiffer RM, Ruder AM, Linet MS, Yeager M, Wang Z, Orr N, Fine HA, Kwon D, Thomas G, Rothman N, Inskip PD, Chanock SJ.

    Association between sequence variations in genes encoding human zona pellucida glycoproteins and fertilization failure in IVF.
    Männikkö M, Törmälä RM, Tuuri T, Haltia A, Martikainen H, Ala-Kokko L, Tapanainen JS, Lakkakorpi JT.

    Mutations within the protein Z-dependent protease inhibitor gene are associated with venous thromboembolic disease: a new form of thrombophilia.
    Van de Water N, Tan T, Ashton F, O'Grady A, Day T, Browett P, Ockelford P, Harper P.

    03/13/2008
    ZP proteins were detected in both the oocyte and the granulosa cells as early as the primordial follicle stage in the human. The detection of ZP proteins in the quiescent primordial follicle suggests that these proteins have been present since oogenesis.

    Detection of zona pellucida proteins during human folliculogenesis.
    Gook DA, Edgar DH, Borg J, Martic M.

    01/21/2010
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