Mutations in NLRP5 are associated with reproductive wastage and multilocus imprinting disorders in humans

Nature Communications

Volumn 6, Issue , 2015, Pages

  Docherty, Louise E ^a,b   Rezwan, Faisal I ^a,b   Poole, Rebecca L ^a,b   Turner, Claire L S ^c   Kivuva, Emma ^c   Maher, Eamonn R ^d   Smithson, Sarah F ^e   Hamilton Shield, Julian P ^f   Patalan, Michal ^g   Gizewska, Maria ^g   Peregud Pogorzelski, Jaroslaw ^g   Beygo, Jasmin ^h   Buiting, Karin ^h   Horsthemke, Bernhard ^h   Soellner, Lukas ⁱ   Begemann, Matthias ⁱ   Eggermann, Thomas ⁱ   Baple, Emma ^j   Mansour, Sahar ^k   Temple, I Karen ^a,j   MacKay, Deborah J G ^a,b   more..

^a SOUTHAMPTON GENERAL HOSPITAL   (United Kingdom)

^b SALISBURY NHS FOUNDATION TRUST   (United Kingdom)

^c ROYAL DEVON AND EXETER HOSPITAL   (United Kingdom)

^d UNIVERSITY OF CAMBRIDGE   (United Kingdom)

^e UNIVERSITY HOSPITALS BRISTOL NHS FOUNDATION TRUST   (United Kingdom)

^f UNIVERSITY OF BRISTOL   (United Kingdom)

^g POMERANIAN MEDICAL UNIVERSITY   (Poland)

^h UNIVERSITY HOSPITAL ESSEN   (Germany)

ⁱ UNIVERSITY HOSPITAL RWTH AACHEN   (Germany)

^j UNIVERSITY HOSPITAL SOUTHAMPTON NHS FOUNDATION TRUST   (United Kingdom)

^k ST GEORGE'S UNIVERSITY OF LONDON   (United Kingdom)

more..

Author keywords

[No Author keywords available]

Indexed keywords

NLRP5 PROTEIN; PROTEIN; UNCLASSIFIED DRUG; AUTOANTIGEN; NALP5 PROTEIN, HUMAN;

DISEASE; DNA; GENE EXPRESSION; GENOME; GROWTH; MATERNAL EFFECT; METABOLISM; METHYLATION; MOLECULAR ANALYSIS; MUTATION; PUBLIC HEALTH; REPRODUCTIVE BIOLOGY;

ADULT; ARTICLE; AUTISM; BECKWITH WIEDEMANN SYNDROME; CLINICAL ARTICLE; DEVELOPMENTAL DISORDER; EPIGENETICS; FEMALE; FEMALE GENITAL SYSTEM; FEMALE INFERTILITY; GENE MUTATION; GENETIC ASSOCIATION; GENETIC DISORDER; GENOME IMPRINTING; GYNECOLOGIC DISEASE; HUMAN; HYDATIDIFORM MOLE; INSULIN DEPENDENT DIABETES MELLITUS; MONOZYGOTIC TWINS; MOTHER; MULTILOCUS IMPRINTING DISTURBANCE; PROGENY; SILVER RUSSELL SYNDROME; SINGLE NUCLEOTIDE POLYMORPHISM; TWIN DISCORDANCE; ADOLESCENT; COMPUTER SIMULATION; COPY NUMBER VARIATION; DIABETES MELLITUS; DNA METHYLATION; DNA SEQUENCE; GENETIC EPIGENESIS; GENETICS; MALE; MUTATION; NEWBORN DISEASE; OBESITY; POLYMERASE CHAIN REACTION; PREGNANCY; SPONTANEOUS ABORTION; UTERUS CANCER; YOUNG ADULT;

ABORTION, SPONTANEOUS; ADOLESCENT; ADULT; AUTISTIC DISORDER; AUTOANTIGENS; BECKWITH-WIEDEMANN SYNDROME; COMPUTER SIMULATION; DIABETES MELLITUS; DNA COPY NUMBER VARIATIONS; DNA METHYLATION; EPIGENESIS, GENETIC; FEMALE; GENOMIC IMPRINTING; HUMANS; HYDATIDIFORM MOLE; INFANT, NEWBORN, DISEASES; INFERTILITY, FEMALE; MALE; MOTHERS; MUTATION; OBESITY; POLYMERASE CHAIN REACTION; PREGNANCY; SEQUENCE ANALYSIS, DNA; SILVER-RUSSELL SYNDROME; TWINS, MONOZYGOTIC; UTERINE NEOPLASMS; YOUNG ADULT;

EID: 84940706336     PISSN: None     EISSN: 20411723     Source Type: Journal    
DOI: 10.1038/ncomms9086     Document Type: Article

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