Publications:

---

The VANGL1 P384R variant cause both neural tube defect and Klippel-Feil syndrome.

Molecular Genetics & Genomic Medicine

Cheng, Chen C; Zhao, Sheng S; Zhu, Xia X; Yang, Fan F; Wang, Weiyun W; Feng, Qian Q; Liu, Ya Y; Huang, Hui H; Chen, Xinlin X

Publication Date: 2021-07

Variant appearance in text: VANGL1: R274Q

PubMed Link: 34014041

Variant Present in the following documents:

• Main text
• MGG3-9-e1710.pdf

View BVdb publication page

---

The VANGL1 P384R variant cause both neural tube defect and Klippel-Feil syndrome.

Molecular Genetics & Genomic Medicine

Cheng, Chen C; Zhao, Sheng S; Zhu, Xia X; Yang, Fan F; Wang, Weiyun W; Feng, Qian Q; Liu, Ya Y; Huang, Hui H; Chen, Xinlin X

Publication Date: 2021-07

Variant appearance in text: VANGL1: R274Q

PubMed Link: 34014041

Variant Present in the following documents:

• Main text
• MGG3-9-e1710.pdf

View BVdb publication page

---

Somatic mutations in planar cell polarity genes in neural tissue from human fetuses with neural tube defects.

Human Genetics

Tian, Tian T; Lei, Yunping Y; Chen, Yongyan Y; Karki, Menuka M; Jin, Lei L; Finnell, Richard H RH; Wang, Linlin L; Ren, Aiguo A

Publication Date: 2020-10

Variant appearance in text: VANGL1: Arg274Gln

PubMed Link: 32356230

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Update on the Role of the Non-Canonical Wnt/Planar Cell Polarity Pathway in Neural Tube Defects.

Cells

Wang, Mingqin M; Marco, Patrizia de P; Capra, Valeria V; Kibar, Zoha Z

Publication Date: 2019-10-04

Variant appearance in text: VANGL1: Arg274Gln

PubMed Link: 31590237

Variant Present in the following documents:

• Main text
• cells-08-01198.pdf

View BVdb publication page

---

Assessment of coding region variants in Kuwaiti population: implications for medical genetics and population genomics.

Scientific Reports

John, Sumi Elsa SE; Antony, Dinu D; Eaaswarkhanth, Muthukrishnan M; Hebbar, Prashantha P; Channanath, Arshad Mohamed AM; Thomas, Daisy D; Devarajan, Sriraman S; Tuomilehto, Jaakko J; Al-Mulla, Fahd F; Alsmadi, Osama O; Thanaraj, Thangavel Alphonse TA

Publication Date: 2018-11-08

Variant appearance in text: VANGL1: Arg274Gln; rs121918219

PubMed Link: 30409984

Variant Present in the following documents:

• Main text
• 41598_2018_Article_34815.pdf

View BVdb publication page

---

A Landscape of Pharmacogenomic Interactions in Cancer.

Cell

Iorio, Francesco F; Knijnenburg, Theo A TA; Vis, Daniel J DJ; Bignell, Graham R GR; Menden, Michael P MP; Schubert, Michael M; Aben, Nanne N; Gonçalves, Emanuel E; Barthorpe, Syd S; Lightfoot, Howard H; Cokelaer, Thomas T; Greninger, Patricia P; van Dyk, Ewald E; Chang, Han H; de Silva, Heshani H; Heyn, Holger H; Deng, Xianming X; Egan, Regina K RK; Liu, Qingsong Q; Mironenko, Tatiana T; Mitropoulos, Xeni X; Richardson, Laura L; Wang, Jinhua J; Zhang, Tinghu T; Moran, Sebastian S; Sayols, Sergi S; Soleimani, Maryam M; Tamborero, David D; Lopez-Bigas, Nuria N; Ross-Macdonald, Petra P; Esteller, Manel M; Gray, Nathanael S NS; Haber, Daniel A DA; Stratton, Michael R MR; Benes, Cyril H CH; Wessels, Lodewyk F A LFA; Saez-Rodriguez, Julio J; McDermott, Ultan U; Garnett, Mathew J MJ

Publication Date: 2016-07-28

Variant appearance in text: VANGL1: 821G>A; R274Q

PubMed Link: 27397505

Variant Present in the following documents:

• mmc3.xlsx, sheet 3

View BVdb publication page

---

The intracellular carboxyl terminal domain of Vangl proteins contains plasma membrane targeting signals.

Protein Science : A Publication Of The Protein Society

Iliescu, Alexandra A; Gros, Philippe P

Publication Date: 2014-04

Variant appearance in text: VANGL1: R274Q

PubMed Link: 24452931

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Novel VANGL1 Gene Mutations in 144 Slovakian, Romanian and German Patients with Neural Tube Defects.

Molecular Syndromology

Bartsch, O O; Kirmes, I I; Thiede, A A; Lechno, S S; Gocan, H H; Florian, I S IS; Haaf, T T; Zechner, U U; Sabova, L L; Horn, F F

Publication Date: 2012-08

Variant appearance in text: VANGL1: 821G>A; Arg274Gln

PubMed Link: 23326252

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Roles of planar cell polarity pathways in the development of neural [correction of neutral] tube defects.

Journal Of Biomedical Science

Wu, Gang G; Huang, Xupei X; Hua, Yimin Y; Mu, Dezhi D

Publication Date: 2011-08-24

Variant appearance in text: VANGL1: R274Q

PubMed Link: 21864354

Variant Present in the following documents:

• Main text
• 1423-0127-18-66.pdf

View BVdb publication page

---

VANGL1 rare variants associated with neural tube defects affect convergent extension in zebrafish.

Mechanisms Of Development

Reynolds, Annie A; McDearmid, Jonathan R JR; Lachance, Stephanie S; De Marco, Patrizia P; Merello, Elisa E; Capra, Valeria V; Gros, Philippe P; Drapeau, Pierre P; Kibar, Zoha Z

Publication Date: 2010

Variant appearance in text: VANGL1: R274Q

PubMed Link: 20043994

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Genetics of human neural tube defects.

Human Molecular Genetics

Greene, Nicholas D E ND; Stanier, Philip P; Copp, Andrew J AJ

Publication Date: 2009-10-15

Variant appearance in text: VANGL1: R274Q

PubMed Link: 19808787

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Novel mutations in VANGL1 in neural tube defects.

Human Mutation

Kibar, Zoha Z; Bosoi, Ciprian M CM; Kooistra, Megan M; Salem, Sandra S; Finnell, Richard H RH; De Marco, Patrizia P; Merello, Elisa E; Bassuk, Alexander G AG; Capra, Valeria V; Gros, Philippe P

Publication Date: 2009-07

Variant appearance in text: VANGL1: Arg274Gln

PubMed Link: 19319979

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Genetic interaction between members of the Vangl family causes neural tube defects in mice.

Proceedings Of The National Academy Of Sciences Of The United States Of America

Torban, Elena E; Patenaude, Anne-Marie AM; Leclerc, Severine S; Rakowiecki, Staci S; Gauthier, Susan S; Andelfinger, Gregor G; Epstein, Douglas J DJ; Gros, Philippe P

Publication Date: 2008-03-04

Variant appearance in text: VANGL1: R274Q

PubMed Link: 18296642

Variant Present in the following documents:

• Main text

View BVdb publication page

---