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Items: 1 to 20 of 27

1.

Novel FREM1 mutations in a patient with MOTA syndrome: Clinical findings, mutation update and review of FREM1-related disorders literature.

Chacon-Camacho OF, Zenker M, Schanze D, Ledesma-Gil J, Zenteno JC.

Eur J Med Genet. 2017 Mar;60(3):190-194. doi: 10.1016/j.ejmg.2017.01.005. Review.

PMID:
28111185
2.

Novel FREM1 mutations expand the phenotypic spectrum associated with Manitoba-oculo-tricho-anal (MOTA) syndrome and bifid nose renal agenesis anorectal malformations (BNAR) syndrome.

Nathanson J, Swarr DT, Singer A, Liu M, Chinn A, Jones W, Hurst J, Khalek N, Zackai E, Slavotinek A.

Am J Med Genet A. 2013 Mar;161A(3):473-8. doi: 10.1002/ajmg.a.35736.

3.

A genetic polymorphism of FREM1 is associated with resistance against HIV infection in the Pumwani sex worker cohort.

Luo M, Sainsbury J, Tuff J, Lacap PA, Yuan XY, Hirbod T, Kimani J, Wachihi C, Ramdahin S, Bielawny T, Embree J, Broliden K, Ball TB, Plummer FA.

J Virol. 2012 Nov;86(21):11899-905. doi: 10.1128/JVI.01499-12.

4.
5.

Manitoba Oculotrichoanal Syndrome.

Li C, Slavotinek A, Chudley AE.

In: Pagon RA, Adam MP, Ardinger HH, Wallace SE, Amemiya A, Bean LJH, Bird TD, Ledbetter N, Mefford HC, Smith RJH, Stephens K, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2017.
2008 Jul 9 [updated 2011 Oct 13].

6.

Partial monosomy 9p (9p22.2-->pter) and partial trisomy 18q (18q21.32-->qter) in a female infant with anorectal malformations.

Chen CP, Lin HM, Leung C, Lin SP, Su YN, Su JW, Chen YT, Wang W.

Genet Couns. 2012;23(2):201-6.

PMID:
22876578
7.

Distinct control of MyD88 adapter-dependent and Akt kinase-regulated responses by the interleukin (IL)-1RI co-receptor, TILRR.

Zhang X, Pino GM, Shephard F, Kiss-Toth E, Qwarnstrom EE.

J Biol Chem. 2012 Apr 6;287(15):12348-52. doi: 10.1074/jbc.C111.321711.

8.

FREM1 mutations cause bifid nose, renal agenesis, and anorectal malformations syndrome.

Alazami AM, Shaheen R, Alzahrani F, Snape K, Saggar A, Brinkmann B, Bavi P, Al-Gazali LI, Alkuraya FS.

Am J Hum Genet. 2009 Sep;85(3):414-8. doi: 10.1016/j.ajhg.2009.08.010. Erratum in: Am J Hum Genet. 2009 Nov;85(5):756.

9.

Manitoba-oculo-tricho-anal (MOTA) syndrome is caused by mutations in FREM1.

Slavotinek AM, Baranzini SE, Schanze D, Labelle-Dumais C, Short KM, Chao R, Yahyavi M, Bijlsma EK, Chu C, Musone S, Wheatley A, Kwok PY, Marles S, Fryns JP, Maga AM, Hassan MG, Gould DB, Madireddy L, Li C, Cox TC, Smyth I, Chudley AE, Zenker M.

J Med Genet. 2011 Jun;48(6):375-82. doi: 10.1136/jmg.2011.089631.

10.

Mild recessive mutations in six Fraser syndrome-related genes cause isolated congenital anomalies of the kidney and urinary tract.

Kohl S, Hwang DY, Dworschak GC, Hilger AC, Saisawat P, Vivante A, Stajic N, Bogdanovic R, Reutter HM, Kehinde EO, Tasic V, Hildebrandt F.

J Am Soc Nephrol. 2014 Sep;25(9):1917-22. doi: 10.1681/ASN.2013101103.

11.

Deficiency of FRAS1-related extracellular matrix 1 (FREM1) causes congenital diaphragmatic hernia in humans and mice.

Beck TF, Veenma D, Shchelochkov OA, Yu Z, Kim BJ, Zaveri HP, van Bever Y, Choi S, Douben H, Bertin TK, Patel PI, Lee B, Tibboel D, de Klein A, Stockton DW, Justice MJ, Scott DA.

Hum Mol Genet. 2013 Mar 1;22(5):1026-38. doi: 10.1093/hmg/dds507.

12.

Heterozygous mutations of FREM1 are associated with an increased risk of isolated metopic craniosynostosis in humans and mice.

Vissers LE, Cox TC, Maga AM, Short KM, Wiradjaja F, Janssen IM, Jehee F, Bertola D, Liu J, Yagnik G, Sekiguchi K, Kiyozumi D, van Bokhoven H, Marcelis C, Cunningham ML, Anderson PJ, Boyadjiev SA, Passos-Bueno MR, Veltman JA, Smyth I, Buckley MF, Roscioli T.

PLoS Genet. 2011 Sep;7(9):e1002278. doi: 10.1371/journal.pgen.1002278.

13.

TILRR, a novel IL-1RI co-receptor, potentiates MyD88 recruitment to control Ras-dependent amplification of NF-kappaB.

Zhang X, Shephard F, Kim HB, Palmer IR, McHarg S, Fowler GJ, O'Neill LA, Kiss-Toth E, Qwarnstrom EE.

J Biol Chem. 2010 Mar 5;285(10):7222-32. doi: 10.1074/jbc.M109.073429. Erratum in: J Biol Chem. 2010 Jun 4;285(23):18122.

14.

The extracellular matrix gene Frem1 is essential for the normal adhesion of the embryonic epidermis.

Smyth I, Du X, Taylor MS, Justice MJ, Beutler B, Jackson IJ.

Proc Natl Acad Sci U S A. 2004 Sep 14;101(37):13560-5.

15.

Identification of a novel cell-adhesive protein spatiotemporally expressed in the basement membrane of mouse developing hair follicle.

Kiyozumi D, Osada A, Sugimoto N, Weber CN, Ono Y, Imai T, Okada A, Sekiguchi K.

Exp Cell Res. 2005 May 15;306(1):9-23.

PMID:
15878328
16.

Identification of 15 loci influencing height in a Korean population.

Kim JJ, Lee HI, Park T, Kim K, Lee JE, Cho NH, Shin C, Cho YS, Lee JY, Han BG, Yoo HW, Lee JK.

J Hum Genet. 2010 Jan;55(1):27-31. doi: 10.1038/jhg.2009.116.

PMID:
19893584
17.

Human and mouse proteases: a comparative genomic approach.

Puente XS, Sánchez LM, Overall CM, López-Otín C.

Nat Rev Genet. 2003 Jul;4(7):544-58. Review.

PMID:
12838346
18.

Human gingiva transcriptome during wound healing.

Wang Y, Tatakis DN.

J Clin Periodontol. 2017 Apr;44(4):394-402. doi: 10.1111/jcpe.12669.

PMID:
28005267
19.

A genome-wide RNAi screen identifies multiple synthetic lethal interactions with the Ras oncogene.

Luo J, Emanuele MJ, Li D, Creighton CJ, Schlabach MR, Westbrook TF, Wong KK, Elledge SJ.

Cell. 2009 May 29;137(5):835-48. doi: 10.1016/j.cell.2009.05.006.

20.

DNA sequence and analysis of human chromosome 9.

Humphray SJ, Oliver K, Hunt AR, Plumb RW, Loveland JE, Howe KL, Andrews TD, Searle S, Hunt SE, Scott CE, Jones MC, Ainscough R, Almeida JP, Ambrose KD, Ashwell RI, Babbage AK, Babbage S, Bagguley CL, Bailey J, Banerjee R, Barker DJ, Barlow KF, Bates K, Beasley H, Beasley O, Bird CP, Bray-Allen S, Brown AJ, Brown JY, Burford D, Burrill W, Burton J, Carder C, Carter NP, Chapman JC, Chen Y, Clarke G, Clark SY, Clee CM, Clegg S, Collier RE, Corby N, Crosier M, Cummings AT, Davies J, Dhami P, Dunn M, Dutta I, Dyer LW, Earthrowl ME, Faulkner L, Fleming CJ, Frankish A, Frankland JA, French L, Fricker DG, Garner P, Garnett J, Ghori J, Gilbert JG, Glison C, Grafham DV, Gribble S, Griffiths C, Griffiths-Jones S, Grocock R, Guy J, Hall RE, Hammond S, Harley JL, Harrison ES, Hart EA, Heath PD, Henderson CD, Hopkins BL, Howard PJ, Howden PJ, Huckle E, Johnson C, Johnson D, Joy AA, Kay M, Keenan S, Kershaw JK, Kimberley AM, King A, Knights A, Laird GK, Langford C, Lawlor S, Leongamornlert DA, Leversha M, Lloyd C, Lloyd DM, Lovell J, Martin S, Mashreghi-Mohammadi M, Matthews L, McLaren S, McLay KE, McMurray A, Milne S, Nickerson T, Nisbett J, Nordsiek G, Pearce AV, Peck AI, Porter KM, Pandian R, Pelan S, Phillimore B, Povey S, Ramsey Y, Rand V, Scharfe M, Sehra HK, Shownkeen R, Sims SK, Skuce CD, Smith M, Steward CA, Swarbreck D, Sycamore N, Tester J, Thorpe A, Tracey A, Tromans A, Thomas DW, Wall M, Wallis JM, West AP, Whitehead SL, Willey DL, Williams SA, Wilming L, Wray PW, Young L, Ashurst JL, Coulson A, Blöcker H, Durbin R, Sulston JE, Hubbard T, Jackson MJ, Bentley DR, Beck S, Rogers J, Dunham I.

Nature. 2004 May 27;429(6990):369-74.

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