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Items: 1 to 20 of 104

1.

Examination of FGFRL1 as a candidate gene for diaphragmatic defects at chromosome 4p16.3 shows that Fgfrl1 null mice have reduced expression of Tpm3, sarcomere genes and Lrtm1 in the diaphragm.

LopezJimenez N, Gerber S, Popovici V, Mirza S, Copren K, Ta L, Shaw GM, Trueb B, Slavotinek AM.

Hum Genet. 2010 Mar;127(3):325-36. doi: 10.1007/s00439-009-0777-8. Epub 2009 Dec 19.

2.

Downregulation of FGFRL1 contributes to the development of the diaphragmatic defect in the nitrofen model of congenital diaphragmatic hernia.

Dingemann J, Doi T, Ruttenstock EM, Puri P.

Eur J Pediatr Surg. 2011 Jan;21(1):46-9. doi: 10.1055/s-0030-1262853. Epub 2010 Oct 11. Erratum in: Eur J Pediatr Surg. 2014 Aug;24(4):e5.

PMID:
20938900
3.

Congenital diaphragmatic hernia candidate genes derived from embryonic transcriptomes.

Russell MK, Longoni M, Wells J, Maalouf FI, Tracy AA, Loscertales M, Ackerman KG, Pober BR, Lage K, Bult CJ, Donahoe PK.

Proc Natl Acad Sci U S A. 2012 Feb 21;109(8):2978-83. doi: 10.1073/pnas.1121621109. Epub 2012 Feb 6.

4.

The FgfrL1 receptor is required for development of slow muscle fibers.

Amann R, Wyder S, Slavotinek AM, Trueb B.

Dev Biol. 2014 Oct 15;394(2):228-41. doi: 10.1016/j.ydbio.2014.08.016. Epub 2014 Aug 27.

5.

Mouse model reveals the role of SOX7 in the development of congenital diaphragmatic hernia associated with recurrent deletions of 8p23.1.

Wat MJ, Beck TF, Hernández-García A, Yu Z, Veenma D, Garcia M, Holder AM, Wat JJ, Chen Y, Mohila CA, Lally KP, Dickinson M, Tibboel D, de Klein A, Lee B, Scott DA.

Hum Mol Genet. 2012 Sep 15;21(18):4115-25. doi: 10.1093/hmg/dds241. Epub 2012 Jun 20.

6.

Heparan sulfate deficiency disrupts developmental angiogenesis and causes congenital diaphragmatic hernia.

Zhang B, Xiao W, Qiu H, Zhang F, Moniz HA, Jaworski A, Condac E, Gutierrez-Sanchez G, Heiss C, Clugston RD, Azadi P, Greer JJ, Bergmann C, Moremen KW, Li D, Linhardt RJ, Esko JD, Wang L.

J Clin Invest. 2014 Jan;124(1):209-21. doi: 10.1172/JCI71090. Epub 2013 Dec 20.

7.

Sequence variants in the HLX gene at chromosome 1q41-1q42 in patients with diaphragmatic hernia.

Slavotinek AM, Moshrefi A, Lopez Jiminez N, Chao R, Mendell A, Shaw GM, Pennacchio LA, Bates MD.

Clin Genet. 2009 May;75(5):429-39. doi: 10.1111/j.1399-0004.2009.01182.x.

8.

Mice with a targeted disruption of the Fgfrl1 gene die at birth due to alterations in the diaphragm.

Baertschi S, Zhuang L, Trueb B.

FEBS J. 2007 Dec;274(23):6241-53. Epub 2007 Nov 6.

9.

A genetic model for a central (septum transversum) congenital diaphragmatic hernia in mice lacking Slit3.

Yuan W, Rao Y, Babiuk RP, Greer JJ, Wu JY, Ornitz DM.

Proc Natl Acad Sci U S A. 2003 Apr 29;100(9):5217-22. Epub 2003 Apr 17. Erratum in: Proc Natl Acad Sci U S A. 2003 Jul 8;100(14):8607.

10.

Multiple congenital malformations of Wolf-Hirschhorn syndrome are recapitulated in Fgfrl1 null mice.

Catela C, Bilbao-Cortes D, Slonimsky E, Kratsios P, Rosenthal N, Te Welscher P.

Dis Model Mech. 2009 May-Jun;2(5-6):283-94. doi: 10.1242/dmm.002287. Epub 2009 Apr 21.

11.

Mesenchymal expression of the FRAS1/FREM2 gene unit is decreased in the developing fetal diaphragm of nitrofen-induced congenital diaphragmatic hernia.

Takahashi T, Friedmacher F, Zimmer J, Puri P.

Pediatr Surg Int. 2016 Feb;32(2):135-40. doi: 10.1007/s00383-015-3824-7. Epub 2015 Oct 30.

PMID:
26519041
12.

A maternally inherited chromosome 18q22.1 deletion in a male with late-presenting diaphragmatic hernia and microphthalmia-evaluation of DSEL as a candidate gene for the diaphragmatic defect.

Zayed H, Chao R, Moshrefi A, Lopezjimenez N, Delaney A, Chen J, Shaw GM, Slavotinek AM.

Am J Med Genet A. 2010 Apr;152A(4):916-23. doi: 10.1002/ajmg.a.33341.

13.

Kif7 is required for the patterning and differentiation of the diaphragm in a model of syndromic congenital diaphragmatic hernia.

Coles GL, Ackerman KG.

Proc Natl Acad Sci U S A. 2013 May 21;110(21):E1898-905. doi: 10.1073/pnas.1222797110. Epub 2013 May 6.

14.

Candidate genes for congenital diaphragmatic hernia from animal models: sequencing of FOG2 and PDGFRalpha reveals rare variants in diaphragmatic hernia patients.

Bleyl SB, Moshrefi A, Shaw GM, Saijoh Y, Schoenwolf GC, Pennacchio LA, Slavotinek AM.

Eur J Hum Genet. 2007 Sep;15(9):950-8. Epub 2007 Jun 13.

15.

Gene Expression of FRAS1-Related Extracellular Matrix 1 Is Decreased in Nitrofen-Induced Congenital Diaphragmatic Hernia.

Takahashi T, Friedmacher F, Puri P.

Eur J Pediatr Surg. 2016 Feb;26(1):81-5. doi: 10.1055/s-0035-1559884. Epub 2015 Sep 18.

PMID:
26382659
16.

Development of the diaphragm -- a skeletal muscle essential for mammalian respiration.

Merrell AJ, Kardon G.

FEBS J. 2013 Sep;280(17):4026-35. doi: 10.1111/febs.12274. Epub 2013 May 7. Review.

17.

Decreased expression of GATA4 in the diaphragm of nitrofen-induced congenital diaphragmatic hernia.

Dingemann J, Doi T, Gosemann JH, Ruttenstock EM, Nakazawa N, Puri P.

Birth Defects Res B Dev Reprod Toxicol. 2013 Apr;98(2):139-43. doi: 10.1002/bdrb.21037. Epub 2013 Feb 19.

PMID:
23426975
18.

Congenital diaphragmatic hernia, kidney agenesis and cardiac defects associated with Slit3-deficiency in mice.

Liu J, Zhang L, Wang D, Shen H, Jiang M, Mei P, Hayden PS, Sedor JR, Hu H.

Mech Dev. 2003 Sep;120(9):1059-70.

19.

Molecular genetics of congenital diaphragmatic defects.

Bielinska M, Jay PY, Erlich JM, Mannisto S, Urban Z, Heikinheimo M, Wilson DB.

Ann Med. 2007;39(4):261-74. Review.

20.

A family-based paradigm to identify candidate chromosomal regions for isolated congenital diaphragmatic hernia.

Arrington CB, Bleyl SB, Matsunami N, Bowles NE, Leppert TI, Demarest BL, Osborne K, Yoder BA, Byrne JL, Schiffman JD, Null DM, DiGeronimo R, Rollins M, Faix R, Comstock J, Camp NJ, Leppert MF, Yost HJ, Brunelli L.

Am J Med Genet A. 2012 Dec;158A(12):3137-47. doi: 10.1002/ajmg.a.35664. Epub 2012 Nov 19.

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