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

[1] Planar cell polarity, ciliogenesis and neural tube defects
Wallingford, John B.
HUMAN MOLECULAR GENETICS, 2006, 15 : R227 - R234
[2] Somatic mutations in planar cell polarity genes in neural tissue from human fetuses with neural tube defects
Tian Tian
Yunping Lei
Yongyan Chen
Menuka Karki
Lei Jin
Richard H. Finnell
Linlin Wang
Aiguo Ren
Human Genetics, 2020, 139 : 1299 - 1314
[3] Somatic mutations in planar cell polarity genes in neural tissue from human fetuses with neural tube defects
Tian, Tian
Lei, Yunping
Chen, Yongyan
Karki, Menuka
Jin, Lei
Finnell, Richard H.
Wang, Linlin
Ren, Aiguo
HUMAN GENETICS, 2020, 139 (10) : 1299 - 1314
[4] Rare copy number variations of planar cell polarity genes are associated with human neural tube defects
Tian Tian
Yunping Lei
Yongyan Chen
Yinnan Guo
Lei Jin
Richard H. Finnell
Linlin Wang
Aiguo Ren
neurogenetics, 2020, 21 : 217 - 225
[5] Genetic interactions between planar cell polarity genes cause diverse neural tube defects in mice
Murdoch, Jennifer N.
Damrau, Christine
Paudyal, Anju
Bogani, Debora
Wells, Sara
Greene, Nicholas D. E.
Stanier, Philip
Copp, Andrew J.
DISEASE MODELS & MECHANISMS, 2014, 7 (10) : 1153 - 1163
[6] Rare copy number variations of planar cell polarity genes are associated with human neural tube defects
Tian, Tian
Lei, Yunping
Chen, Yongyan
Guo, Yinnan
Jin, Lei
Finnell, Richard H.
Wang, Linlin
Ren, Aiguo
NEUROGENETICS, 2020, 21 (03) : 217 - 225
[7] Mutations in the planar cell polarity gene, Fuzzy, are associated with neural tube defects in humans
Seo, Jung Hwa
Zilber, Yulia
Babayeva, Sima
Liu, JiaJia
Kyriakopoulos, Paulina
De Marco, Patrizia
Merello, Elisa
Capra, Valeria
Gros, Philippe
Torban, Elena
HUMAN MOLECULAR GENETICS, 2011, 20 (22) : 4324 - 4333
[8] Genetic evidence in planar cell polarity signaling pathway in human neural tube defects
Chunquan Cai
Ouyan Shi
Frontiers of Medicine, 2014, 8 (01) : 68 - 78
[9] Genetic evidence in planar cell polarity signaling pathway in human neural tube defects
Chunquan Cai
Ouyan Shi
Frontiers of Medicine, 2014, 8 : 68 - 78
[10] Genetic evidence in planar cell polarity signaling pathway in human neural tube defects
Cai, Chunquan
Shi, Ouyan
FRONTIERS OF MEDICINE, 2014, 8 (01) : 68 - 78

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