Oligogenic inheritance in neural tube defects: major involvment of primary cilia, planar cell polarity and extracellular matrix genes

被引：0

作者：

Faoucher, Marie ^{[1
]}

Kim, Artem ^{[2
]}

Brottier, Charles ^{[1
]}

Carre, Wilfrid ^{[1
,2
]}

Demurger, Florence ^{[3
]}

Akloul, Linda ^{[4
]}

Fradin, Melanie ^{[4
]}

Quelin, Chloe ^{[4
]}

Hamdi, Houda ^{[1
]}

Rollier, Paul ^{[2
,4
]}

Odent, Sylvie ^{[2
,4
]}

Northrup, Hope ^{[5
]}

Au, Kit Sing

Detayrac, Marie ^{[1
,2
]}

Dubourg, Christele ^{[1
,2
]}

Dupe, Valerie ^{[2
]}

机构：

[1] CHU Rennes, Serv Genet Mol & Genom, Rennes, France

[2] Rennes Univ, CNRS, IGDR Inst Genet & Dev Rennes UMR 6290, ERL U1305, Rennes, France

[3] Ctr Hosp Betagne Atant, Serv Genet Clin, Vannes, France

[4] CHU Rennes, Serv Genet Clin Rennes, Rennes, France

[5] Univ Texas Hlth Sci Ctr, McGovern Med Sch, Div Med Genet, Dept Pediat, Houston, TX USA

来源：

EUROPEAN JOURNAL OF HUMAN GENETICS | 2023年 / 31卷

关键词：

D O I：

暂无

中图分类号：

Q5 [生物化学]; Q7 [分子生物学];

学科分类号：

071010 ; 081704 ;

摘要：

C04.4

引用

页码：18 / 18

页数：1

共 30 条

[11] A consideration of the evidence that genetic defects in planar cell polarity contribute to the etiology of human neural tube defects
Juriloff, Diana M.
Harris, Muriel J.
BIRTH DEFECTS RESEARCH PART A-CLINICAL AND MOLECULAR TERATOLOGY, 2012, 94 (10) : 824 - 840
[12] Digenic variants of planar cell polarity genes in human neural tube defect patients
Wang, Linlin
Xiao, Yanhui
Tian, Tian
Jin, Lei
Lei, Yunping
Finnell, Richard H.
Ren, Aiguo
MOLECULAR GENETICS AND METABOLISM, 2018, 124 (01) : 94 - 100
[13] Mutations associated with human neural tube defects display disrupted planar cell polarity in Drosophila
Humphries, Ashley C.
Narang, Sonali
Mlodzik, Marek
ELIFE, 2020, 9
[14] Planar cell polarity genes regulate polarized extracellular matrix deposition during frog gastrulation
Goto, T
Davidson, L
Asashima, M
Keller, R
CURRENT BIOLOGY, 2005, 15 (08) : 787 - 793
[15] Identification of putative neural tube defect-causing mutations in planar cell polarity genes
Robinson, Alexis
Doudney, Kit
Greene, Nicholas D. E.
Stanier, Philip
Copp, Andrew J.
GENETICS RESEARCH, 2010, 92 (01) : 72 - 73
[16] Role of the planar cell polarity gene CELSR1 in neural tube defects and caudal agenesis
Allache, Redouane
De Marco, Patrizia
Merello, Elisa
Capra, Valeria
Kibar, Zoha
BIRTH DEFECTS RESEARCH PART A-CLINICAL AND MOLECULAR TERATOLOGY, 2012, 94 (03) : 176 - 181
[17] Role of the planar cell polarity gene Protein tyrosine kinase 7 in neural tube defects in humans
Wang, Mingqin
De Marco, Patrizia
Merello, Elisa
Drapeau, Pierre
Capra, Valeria
Kibar, Zoha
BIRTH DEFECTS RESEARCH PART A-CLINICAL AND MOLECULAR TERATOLOGY, 2015, 103 (12) : 1021 - 1027
[18] Planar Cell Polarity Gene Mutations Contribute to the Etiology of Human Neural Tube Defects in Our Population
De Marcoy, Patrizia
Merelloy, Elisa
Piatelli, Gianluca
Cama, Armando
Kibar, Zoha
Capra, Valeria
BIRTH DEFECTS RESEARCH PART A-CLINICAL AND MOLECULAR TERATOLOGY, 2014, 100 (08) : 633 - 641
[19] Update on the Role of the Non-Canonical Wnt/Planar Cell Polarity Pathway in Neural Tube Defects
Wang, Mingqin
de Marco, Patrizia
Capra, Valeria
Kibar, Zoha
CELLS, 2019, 8 (10)
[20] Changes in cell adhesion and extracellular matrix molecules in spontaneous spinal neural tube defects in avian embryos
Newgreen, DF
Kerr, RS
Minichiello, J
Warren, N
TERATOLOGY, 1997, 55 (03) : 195 - 207

← 1 2 3 →