FN1 c.685+126A>T

Variant ID: 2-216295312-T-A

NM_212482.1(FN1):c.685+126A>T

This variant was identified in 10 publications

View GRCh38 version.




Publications:


JAK-STAT signaling in inflammatory breast cancer enables chemotherapy-resistant cell states.

Cancer Research
Stevens, Laura E LE; Peluffo, Guillermo G; Qiu, Xintao X; Temko, Daniel D; Fassl, Anne A; Li, Zheqi Z; Trinh, Anne A; Seehawer, Marco M; Jovanovic, Bojana B; Aleckovic, Masa M; Wilde, Callahan M CM; Geck, Renee C RC; Shu, Shaokun S; Kingston, Natalie L NL; Harper, Nicholas W NW; Almendro, Vanessa V; Pyke, Alanna L AL; Egri, Shawn B SB; Papanastasiou, Malvina M; Clement, Kendell K; Zhou, Ningxuan N; Walker, Sarah S; Salas, Jacqueline J; Park, So Yeon SY; Frank, David A DA; Meissner, Alexander A; Jaffe, Jacob D JD; Sicinski, Piotr P; Toker, Alex A; Michor, Franziska F; Long, Henry W HW; Overmoyer, Beth A BA; Polyak, Kornelia K
Publication Date: 2022-11-21

Variant appearance in text: FN1: 685+126A>T; rs1250241
PubMed Link: 36409824
Variant Present in the following documents:
  • can-22-0423_supplementary_table_s3_suppst3.xlsx, sheet 1
View BVdb publication page



Genomics of Endometriosis: From Genome Wide Association Studies to Exome Sequencing.

International Journal Of Molecular Sciences
Lalami, Imane I; Abo, Carole C; Borghese, Bruno B; Chapron, Charles C; Vaiman, Daniel D
Publication Date: 2021-07-07

Variant appearance in text: rs1250241
PubMed Link: 34298916
Variant Present in the following documents:
  • Main text
  • ijms-22-07297.pdf
View BVdb publication page



Genetic, Epigenetic, and Steroidogenic Modulation Mechanisms in Endometriosis.

Journal Of Clinical Medicine
Zubrzycka, Anna A; Zubrzycki, Marek M; Perdas, Ewelina E; Zubrzycka, Maria M
Publication Date: 2020-05-02

Variant appearance in text: rs1250241
PubMed Link: 32370117
Variant Present in the following documents:
  • Main text
  • jcm-09-01309.pdf
View BVdb publication page



Should Genetics Now Be Considered the Pre-eminent Etiologic Factor in Endometriosis?

Journal Of Minimally Invasive Gynecology
Montgomery, Grant W GW; Mortlock, Sally S; Giudice, Linda C LC
Publication Date: 2020-02

Variant appearance in text: rs1250241
PubMed Link: 31683028
Variant Present in the following documents:
  • Main text
View BVdb publication page



GWAS of five gynecologic diseases and cross-trait analysis in Japanese.

European Journal Of Human Genetics : Ejhg
Masuda, Tatsuo T; Low, Siew-Kee SK; Akiyama, Masato M; Hirata, Makoto M; Ueda, Yutaka Y; Matsuda, Koichi K; Kimura, Tadashi T; Murakami, Yoshinori Y; Kubo, Michiaki M; Kamatani, Yoichiro Y; Okada, Yukinori Y
Publication Date: 2020-01

Variant appearance in text: rs1250241
PubMed Link: 31488892
Variant Present in the following documents:
  • Main text
  • 41431_2019_Article_495.pdf
View BVdb publication page



Genetic Evidence Supporting the Role of the Calcium Channel, CACNA1S, in Tooth Cusp and Root Patterning.

Frontiers In Physiology
Laugel-Haushalter, Virginie V; Morkmued, Supawich S; Stoetzel, Corinne C; Geoffroy, Véronique V; Muller, Jean J; Boland, Anne A; Deleuze, Jean-François JF; Chennen, Kirsley K; Pitiphat, Waranuch W; Dollfus, Hélène H; Niederreither, Karen K; Bloch-Zupan, Agnès A; Pungchanchaikul, Patimaporn P
Publication Date: 2018

Variant appearance in text: FN1: 685+126A>T; rs1250241
PubMed Link: 30319441
Variant Present in the following documents:
  • Table_6.xlsx, sheet 1
  • Table_5.xlsx, sheet 1
  • Table_7.xlsx, sheet 1
View BVdb publication page



Whole-exome sequencing analysis of Waardenburg syndrome in a Chinese family.

Human Genome Variation
Chen, Dezhong D; Zhao, Na N; Wang, Jing J; Li, Zhuoyu Z; Wu, Changxin C; Fu, Jie J; Xiao, Han H
Publication Date: 2017

Variant appearance in text: rs1250241
PubMed Link: 28690861
Variant Present in the following documents:
  • hgv201727-s1.xls, sheet 1
View BVdb publication page



Meta-analysis identifies five novel loci associated with endometriosis highlighting key genes involved in hormone metabolism.

Nature Communications
Sapkota, Yadav Y; Steinthorsdottir, Valgerdur V; Morris, Andrew P AP; Fassbender, Amelie A; Rahmioglu, Nilufer N; De Vivo, Immaculata I; Buring, Julie E JE; Zhang, Futao F; Edwards, Todd L TL; Jones, Sarah S; O, Dorien D; Peterse, Daniëlle D; Rexrode, Kathryn M KM; Ridker, Paul M PM; Schork, Andrew J AJ; MacGregor, Stuart S; Martin, Nicholas G NG; Becker, Christian M CM; Adachi, Sosuke S; Yoshihara, Kosuke K; Enomoto, Takayuki T; Takahashi, Atsushi A; Kamatani, Yoichiro Y; Matsuda, Koichi K; Kubo, Michiaki M; Thorleifsson, Gudmar G; Geirsson, Reynir T RT; Thorsteinsdottir, Unnur U; Wallace, Leanne M LM; , ; Yang, Jian J; Velez Edwards, Digna R DR; Nyegaard, Mette M; Low, Siew-Kee SK; Zondervan, Krina T KT; Missmer, Stacey A SA; D'Hooghe, Thomas T; Montgomery, Grant W GW; Chasman, Daniel I DI; Stefansson, Kari K; Tung, Joyce Y JY; Nyholt, Dale R DR
Publication Date: 2017-05-24

Variant appearance in text: rs1250241
PubMed Link: 28537267
Variant Present in the following documents:
  • Main text
  • ncomms15539.pdf
View BVdb publication page



Generation of a High Number of Healthy Erythroid Cells from Gene-Edited Pyruvate Kinase Deficiency Patient-Specific Induced Pluripotent Stem Cells.

Stem Cell Reports
Garate, Zita Z; Quintana-Bustamante, Oscar O; Crane, Ana M AM; Olivier, Emmanuel E; Poirot, Laurent L; Galetto, Roman R; Kosinski, Penelope P; Hill, Collin C; Kung, Charles C; Agirre, Xabi X; Orman, Israel I; Cerrato, Laura L; Alberquilla, Omaira O; Rodriguez-Fornes, Fatima F; Fusaki, Noemi N; Garcia-Sanchez, Felix F; Maia, Tabita M TM; Ribeiro, Maria L ML; Sevilla, Julian J; Prosper, Felipe F; Jin, Shengfang S; Mountford, Joanne J; Guenechea, Guillermo G; Gouble, Agnes A; Bueren, Juan A JA; Davis, Brian R BR; Segovia, Jose C JC
Publication Date: 2015-12-08

Variant appearance in text: rs1250241
PubMed Link: 26549847
Variant Present in the following documents:
  • mmc3.xlsx, sheet 3
  • mmc3.xlsx, sheet 2
  • mmc3.xlsx, sheet 1
View BVdb publication page



Genome-wide association analysis implicates elastic microfibrils in the development of nonsyndromic striae distensae.

The Journal Of Investigative Dermatology
Tung, Joyce Y JY; Kiefer, Amy K AK; Mullins, Meghan M; Francke, Uta U; Eriksson, Nicholas N
Publication Date: 2013-11

Variant appearance in text: rs1250241
PubMed Link: 23633020
Variant Present in the following documents:
  • jid2013196x1.pdf
View BVdb publication page