Mutations in NLRP7 and KHDC3L confer a complete hydatidiform mole phenotype on digynic triploid conceptions.
about
Genetics and Epigenetics of Recurrent Hydatidiform Moles: Basic Science and Genetic CounsellingIdentification of Maturation-Specific Proteins by Single-Cell Proteomics of Human Oocytes.Expression of maternally derived KHDC3, NLRP5, OOEP and TLE6 is associated with oocyte developmental competence in the ovine speciesDeep bisulfite sequencing of aberrantly methylated loci in a patient with multiple methylation defectsRecurrent triploidy due to a failure to complete maternal meiosis II: whole-exome sequencing reveals candidate variantsMaternal-fetal conflict, genomic imprinting and mammalian vulnerabilities to cancer.The Diagnosis of Choriocarcinoma in Molar Pregnancies: A Revised Approach in Clinical Testing.NLRP7 and the Genetics of Hydatidiform Moles: Recent Advances and New Challenges.Clinical utility of selective molecular genotyping for diagnosis of partial hydatidiform mole; a retrospective study from a regional trophoblastic disease unit.NOD-like receptors interfacing the immune and reproductive systems.The Role of Maternal-Effect Genes in Mammalian Development: Are Mammalian Embryos Really an Exception?Maternal heterozygous NLRP7 variant results in recurrent reproductive failure and imprinting disturbances in the offspring.The subcortical maternal complex: multiple functions for one biological structure?NLRP7 and KHDC3L, the two maternal-effect proteins responsible for recurrent hydatidiform moles, co-localize to the oocyte cytoskeleton.Whole-exome sequencing reveals genetic variants in ERC1 and KCNG4 associated with complete hydatidiform mole in Chinese Han women.Characteristics of hydatidiform moles: analysis of a prospective series with p57 immunohistochemistry and molecular genotyping.Comprehensive genotype-phenotype correlations between NLRP7 mutations and the balance between embryonic tissue differentiation and trophoblastic proliferation.A familial disorder of altered DNA-methylation
P2860
Q27027937-CB20734E-23EE-438C-8390-9E168503A42CQ34527950-3ECD013E-AABA-410A-929E-ECB086958C08Q34588121-08F8CF3B-67A7-4049-B97E-4652539BAB6BQ35018646-2D88137D-5CAF-47FA-954D-74A0E64C728EQ35236976-74951346-E30F-4920-BCF1-8117E06BB7A0Q36088017-893BFBC5-D0CE-44D3-803D-09C75A22582EQ36223758-1CA76290-7CF4-4BD2-AEB3-E2C39D1352BFQ37105278-6F5207DD-FE6D-4321-9A9A-118D45AB38BCQ38235519-6A0643AB-17D7-42FD-8D28-F06E1FBAE7B4Q38242966-749F52A8-8F32-4D9E-AB68-333BEE8E3B70Q38739786-CF37551E-297F-4465-81DE-01E925DF7818Q38754738-79413BC1-CBE3-4D22-9504-E78A42ECEC3AQ38831289-85FEDA65-49A0-4C28-8289-AD33ECA91BCFQ43606878-7940BC26-B999-4CFA-8F88-88188CE67DC1Q46233955-E6E37AC8-4EB0-4490-9CB3-59EB6760B107Q47932399-B82A2BC7-D196-4222-A722-9B75F7EDA3AAQ50643504-D2E2504E-744F-467A-9383-452638135545Q57521771-8942256E-22BA-48BD-BDBD-63B1F60B8BA7
P2860
Mutations in NLRP7 and KHDC3L confer a complete hydatidiform mole phenotype on digynic triploid conceptions.
description
2012 nî lūn-bûn
@nan
2012年の論文
@ja
2012年学术文章
@wuu
2012年学术文章
@zh-cn
2012年学术文章
@zh-hans
2012年学术文章
@zh-my
2012年学术文章
@zh-sg
2012年學術文章
@yue
2012年學術文章
@zh
2012年學術文章
@zh-hant
name
Mutations in NLRP7 and KHDC3L ...... digynic triploid conceptions.
@en
type
label
Mutations in NLRP7 and KHDC3L ...... digynic triploid conceptions.
@en
prefLabel
Mutations in NLRP7 and KHDC3L ...... digynic triploid conceptions.
@en
P2860
P50
P356
P1433
P1476
Mutations in NLRP7 and KHDC3L ...... n digynic triploid conceptions
@en
P2093
Masoumeh Fallahian
Michael J Seckl
P2860
P304
P356
10.1002/HUMU.22228
P577
2012-11-02T00:00:00Z