Homozygous mutation of PLCZ1 leads to defective human oocyte activation and infertility that is not rescued by the WW-binding protein PAWP

Human Molecular Genetics

Volumn 25, Issue 5, 2016, Pages 878-891

  Escoffier, Jessica ^a   Lee, Hoi Chang ^b   Yassine, Sandra ^c,d   Zouari, Raoudha ^e   Martinez, Guillaume ^c,d   Karaouzène, Thomas ^c,d   Coutton, Charles ^c,f   Kherraf, Zine Eddine ^c,d   Halouani, Lazhar ^e   Triki, Chema ^g   Nef, Serge ^a   Thierry Mieg, Nicolas ^c,h   Savinov, Sergey N ^b   Fissore, Rafael ^b   Ray, Pierre F ^c,d,f   Arnoult, Christophe ^c,d  

^a UNIVERSITY OF GENEVA MEDICAL SCHOOL   (Switzerland)

^b UNIVERSITY OF MASSACHUSETTS   (United States)

^c UNIV GRENOBLE ALPES   (France)

^d INSTITUT ALBERT BONNIOT   (France)

^e Centre Urbain Nord   (Tunisia)

^f GRENOBLE UNIVERSITY HOSPITAL   (France)

^g Centre d'AMP   (Tunisia)

^h LABORATOIRE TIMC IMAG   (France)

Author keywords

[No Author keywords available]

Indexed keywords

BINDING PROTEIN; PAWP PROTEIN; PHOSPHOLIPASE C; SPERM SPECIFIC PHOSPHOLIPASE C 1; UNCLASSIFIED DRUG; CARRIER PROTEIN; PHOSPHATIDYLINOSITOL 4,5 BISPHOSPHATE PHOSPHODIESTERASE; PLCZ1 PROTEIN, HUMAN; SEMINAL PLASMA PROTEIN; WBP2NL PROTEIN, HUMAN;

AMINO ACID SUBSTITUTION; ARTICLE; CASE REPORT; CELL ACTIVATION; CONFORMATIONAL TRANSITION; EMBRYO DEVELOPMENT; EXOME; FERTILIZATION; GENE EXPRESSION; GENE FREQUENCY; HOMOZYGOSITY; HUMAN; HUMAN CELL; IMMUNOREACTIVITY; INTRACYTOPLASMIC SPERM INJECTION; MALE; MALE INFERTILITY; MISSENSE MUTATION; MOLECULAR DYNAMICS; OOCYTE; PRIORITY JOURNAL; PROTEIN CONFORMATION; PROTEIN DOMAIN; PROTEIN LOCALIZATION; PROTEIN TARGETING; SPERMATOZOON DENSITY; SPERMATOZOON MOTILITY; TUNISIAN; ADULT; AMINO ACID SEQUENCE; ANIMAL; CALCIUM SIGNALING; CYTOLOGY; DEFICIENCY; EMBRYO DEATH; FEMALE; FERTILITY; GENE EXPRESSION REGULATION; GENETICS; HOMOZYGOTE; IN VITRO OOCYTE MATURATION; METABOLISM; MOLECULAR GENETICS; MOLECULAR MODEL; MOUSE; MUTATION; NUCLEOTIDE SEQUENCE; PATHOLOGY; PROTEIN TRANSPORT; SEQUENCE ALIGNMENT; SIBLING; SPERMATOZOON;

ADULT; AMINO ACID SEQUENCE; ANIMALS; BASE SEQUENCE; CALCIUM SIGNALING; CARRIER PROTEINS; EMBRYO LOSS; FEMALE; GENE EXPRESSION REGULATION; HOMOZYGOTE; HUMANS; IN VITRO OOCYTE MATURATION TECHNIQUES; INFERTILITY, MALE; MALE; MICE; MODELS, MOLECULAR; MOLECULAR SEQUENCE DATA; MUTATION; OOCYTES; PHOSPHOINOSITIDE PHOSPHOLIPASE C; PROTEIN TRANSPORT; SEMINAL PLASMA PROTEINS; SEQUENCE ALIGNMENT; SIBLINGS; SPERM MOTILITY; SPERM-OVUM INTERACTIONS; SPERMATOZOA;

EID: 84962786807     PISSN: 09646906     EISSN: 14602083     Source Type: Journal    
DOI: 10.1093/hmg/ddv617     Document Type: Article

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