Citations for
1ACDMPV, DEL16Q241, FOXF1
FOX gene cluster defects in alveolar capillary dysplasia associated with congenital heart disease.
Laux D, Malan V, Bajolle F, Boudjemline Y, Amiel J, Bonnet D.
Cardiol Young ardiol Young. 2013 Jan 21:1-8. [Epub ahead of print] 2013
2ACDMPV, DEL16Q241, FOXF1, GLI2
Small noncoding differentially methylated copy-number variants, including lncRNA genes, cause a lethal lung developmental disorder.
Szafranski P, Dharmadhikari AV, Brosens E, Gurha P, Kolodziejska KE, Zhishuo O, Dittwald P, Majewski T, Mohan KN, Chen B, Person RE, Tibboel D, de Klein A, Pinner J, Chopra M, Malcolm G, Peters G, Arbuckle S, Guiang SF 3rd, Hustead VA, Jessurun J, Hirsch R, Witte DP, Maystadt I, Sebire N, Fisher R, Langston C, Sen P, Stankiewicz P.
Genome Res 23(1):23-33. doi: 10.1101/gr.141887.112. Epub 2012 Oct 3. 2013
3ACDMPV, FOXF1
Inversion upstream of FOXF1 in a case of lethal alveolar capillary dysplasia with misalignment of pulmonary veins.
Parris T, Nik AM, Kotecha S, Langston C, Helou K, Platt C, Carlsson P.
Am J Med Genet A 161(4):764-70. doi: 10.1002/ajmg.a.35832. Epub 2013 Feb 26. 2013
4FOXF1, FOXQ1, MYLK, MYOCD, SRF
The transcription factor Foxf1 binds to serum response factor and myocardin to regulate gene transcription in visceral smooth muscle cells.
Hoggatt AM, Kim JR, Ustiyan V, Ren X, Kalin TV, Kalinichenko VV, Herring BP.
J Biol Chem 288(40):28477-87. doi: 10.1074/jbc.M113.478974. Epub 2013 Aug 14. 2013
5ACDMPV, FOXF1
Novel FOXF1 mutations in sporadic and familial cases of alveolar capillary dysplasia with misaligned pulmonary veins imply a role for its DNA binding domain.
Sen P, Yang Y, Navarro C, Silva I, Szafranski P, Kolodziejska KE, Dharmadhikari AV, Mostafa H, Kozakewich H, Kearney D, Cahill JB, Whitt M, Bilic M, Margraf L, Charles A, Goldblatt J, Gibson K, Lantz PE, Garvin AJ, Petty J, Kiblawi Z, Zuppan C, McConkie-Rosell A, McDonald MT, Peterson-Carmichael SL, Gaede JT, Shivanna B, Schady D, Friedlich PS, Hays SR, Palafoll IV, Siebers-Renelt U, Bohring A, Finn LS, Siebert JR, Galambos C, Nguyen L, Riley M, Chassaing N, Vigouroux A, Rocha G, Fernandes S, Brumbaugh J, Roberts K, Ho-Ming L, Lo IF, Lam S, Gerychova R, Jezova M, Valaskova I, Fellmann F, Afshar K, Giannoni E, Muhlethaler V, Liang J, Beckmann JS, Lioy J, Deshmukh H, Srinivasan L, Swarr DT, Sloman M, Shaw-Smith C, van Loon RL, Hagman C, Sznajer Y, Barrea C, Galant C, Detaille T, Wambach JA, Cole FS, Hamvas A, Prince LS, Diderich KE, Brooks AS, Verdijk RM, Ravindranathan H, Sugo E, Mowat D, Baker ML, Langston C, Welty S, Stankiewicz P.
Hum Mutat 34(6):801-11. doi: 10.1002/humu.22313. Epub 2013 Apr 12. 2013
6FOXF1
The p53-p21WAF1 checkpoint pathway plays a protective role in preventing DNA rereplication induced by abrogation of FOXF1 function.
Lo PK, Lee JS, Sukumar S.
Cell Signal 24(1):316-24. doi: 10.1016/j.cellsig.2011.09.017. Epub 2011 Sep 22. 2012
7ACDMPV, FOXF1
Analysis of FOXF1 and the FOX gene cluster in patients with VACTERL association.
Agochukwu NB, Pineda-Alvarez DE, Keaton AA, Warren-Mora N, Raam MS, Kamat A, Chandrasekharappa SC, Solomon BD.
Eur J Med Genet 54(3):323-8. doi: 10.1016/j.ejmg.2011.01.007. Epub 2011 Feb 26. 2011
8ACDMPV, DEL16Q241, DEL16QO, FOXC2, FOXF1
Haploinsufficiencies of FOXF1 and FOXC2 genes associated with lethal alveolar capillary dysplasia and congenital heart disease.
Yu S, Shao L, Kilbride H, Zwick DL.
Am J Med Genet A 152A(5):1257-62.PMID: 20425831 2010
9ACDMPV, FOXF1, VACTERL
Genetic factors in esophageal atresia, tracheo-esophageal fistula and the VACTERL association: roles for FOXF1 and the 16q24.1 FOX transcription factor gene cluster, and review of the literature.
Shaw-Smith C.
Eur J Med Genet 53(1):6-13. doi: 10.1016/j.ejmg.2009.10.001. Epub 2009 Oct 12. Review. 2010
10DEL16Q241, FOXC2, FOXF1
Haploinsufficiencies of FOXF1 and FOXC2 genes associated with lethal alveolar capillary dysplasia and congenital heart disease.
Yu S, Shao L, Kilbride H, Zwick DL.
Am J Med Genet A 152A(5):1257-62. doi: 10.1002/ajmg.a.33378. 2010
11FOXF1
Forkhead box F1 regulates tumor-promoting properties of cancer-associated fibroblasts in lung cancer.
Saito RA, Micke P, Paulsson J, Augsten M, Peña C, Jönsson P, Botling J, Edlund K, Johansson L, Carlsson P, Jirström K, Miyazono K, Ostman A.
Cancer Res 70(7):2644-54. doi: 10.1158/0008-5472.CAN-09-3644. Epub 2010 Mar 16. 2010
12ACDMPV, FOXF1
Genomic and genic deletions of the FOX gene cluster on 16q24.1 and inactivating mutations of FOXF1 cause alveolar capillary dysplasia and other malformations.
Stankiewicz P, Sen P, Bhatt SS, Storer M, Xia Z, Bejjani BA, Ou Z, Wiszniewska J, Driscoll DJ, Bolivar J, Bauer M, Zackai EH, McDonald-McGinn D, Nowaczyk MM, Murray M, Shaikh TH, Martin V, Tyreman M, Simonic I, Willatt L, Paterson J, Mehta S, Rajan D, Fitzgerald T, Gribble S, Prigmore E, Patel A, Shaffer LG, Carter NP, Cheung SW, Langston C, Shaw-Smith C.
Am J Hum Genet 84(6):780-91. Epub 2009 Jun 4. 2009
13FOXF1, FOXL1
FoxF1 and FoxL1 link hedgehog signaling and the control of epithelial proliferation in the developing stomach and intestine.
Madison BB, McKenna LB, Dolson D, Epstein DJ, Kaestner KH.
J Biol Chem 284(9):5936-44. Epub 2008 Dec 2. 2009
14FOXF1, HOXA13, TEK
HOXA13 Is essential for placental vascular patterning and labyrinth endothelial specification.
Shaut CA, Keene DR, Sorensen LK, Li DY, Stadler HS.
PLoS Genet 4(5):e1000073. doi: 10.1371/journal.pgen.1000073. 2008
15ADRBK1, AR, ZFHX3, CACNA1A, CAPNS1, FOXE1, FOXF1, FMR1, AFF2, HCN1, NRXN1, CA10
CCG repeats in cDNAs from human brain.
Kleiderlein JJ, Nisson PE, Jessee J, Li WB, Becker KG, Derby ML, Ross CA, Margolis RL.
Hum Genet 103(6):666-73. 1998
16FOXF1, FOXC1, FOXD1, FOXD4, FOXI1, FOXE3
Chromosomal localization of six human forkhead genes, freac-1 (FKHL5), -3 (FKHL7), -4 (FKHL8), -5 (FKHL9), -6 (FKHL10), and -8 (FKHL12).
Larsson C, Hellqvist M, Pierrou S, White I, Enerback S, Carlsson P.
Genomics 30(3):464-9. 1995
17FOXC1, FOXD1, FOXD4, FOXE3, FOXF1, FOXI1, FOXL1
Cloning and characterization of seven human forkhead proteins: binding site specificity and DNA bending.
Pierrou S, Hellqvist M, Samuelsson L, Enerback S, Carlsson P.
EMBO J 13(20) : 5002-12. 1994