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Items: 1 to 20 of 120

1.

Multilineage somatic activating mutations in HRAS and NRAS cause mosaic cutaneous and skeletal lesions, elevated FGF23 and hypophosphatemia.

Lim YH, Ovejero D, Sugarman JS, Deklotz CM, Maruri A, Eichenfield LF, Kelley PK, Jüppner H, Gottschalk M, Tifft CJ, Gafni RI, Boyce AM, Cowen EW, Bhattacharyya N, Guthrie LC, Gahl WA, Golas G, Loring EC, Overton JD, Mane SM, Lifton RP, Levy ML, Collins MT, Choate KA.

Hum Mol Genet. 2014 Jan 15;23(2):397-407. doi: 10.1093/hmg/ddt429. Epub 2013 Sep 4.

2.

Postzygotic HRAS mutation causing both keratinocytic epidermal nevus and thymoma and associated with bone dysplasia and hypophosphatemia due to elevated FGF23.

Avitan-Hersh E, Tatur S, Indelman M, Gepstein V, Shreter R, Hershkovitz D, Brick R, Bergman R, Tiosano D.

J Clin Endocrinol Metab. 2014 Jan;99(1):E132-6. doi: 10.1210/jc.2013-2813. Epub 2013 Dec 20.

PMID:
24243633
3.

Cutaneous skeletal hypophosphatemia syndrome (CSHS) is a multilineage somatic mosaic RASopathy.

Lim YH, Ovejero D, Derrick KM; Yale Center for Mendelian Genomics, Collins MT, Choate KA.

J Am Acad Dermatol. 2016 Aug;75(2):420-7. doi: 10.1016/j.jaad.2015.11.012. Review.

4.

Mosaic NRAS Q61R mutation in a child with giant congenital melanocytic naevus, epidermal naevus syndrome and hypophosphataemic rickets.

Ramesh R, Shaw N, Miles EK, Richard B, Colmenero I, Moss C.

Clin Exp Dermatol. 2017 Jan;42(1):75-79. doi: 10.1111/ced.12969. Epub 2016 Nov 30.

PMID:
27900779
5.

Phacomatosis pigmentokeratotica is caused by a postzygotic HRAS mutation in a multipotent progenitor cell.

Groesser L, Herschberger E, Sagrera A, Shwayder T, Flux K, Ehmann L, Wollenberg A, Torrelo A, Bagazgoitia L, Diaz-Ley B, Tinschert S, Oschlies I, Singer S, Mickler M, Toll A, Landthaler M, Real FX, Hafner C.

J Invest Dermatol. 2013 Aug;133(8):1998-2003. doi: 10.1038/jid.2013.24. Epub 2013 Jan 21.

6.

NRAS mutation is the sole recurrent somatic mutation in large congenital melanocytic nevi.

Charbel C, Fontaine RH, Malouf GG, Picard A, Kadlub N, El-Murr N, How-Kit A, Su X, Coulomb-L'Hermine A, Tost J, Mourah S, Aractingi S, Guégan S.

J Invest Dermatol. 2014 Apr;134(4):1067-1074. doi: 10.1038/jid.2013.429. Epub 2013 Oct 15.

7.

Activating HRAS mutation in agminated Spitz nevi arising in a nevus spilus.

Sarin KY, Sun BK, Bangs CD, Cherry A, Swetter SM, Kim J, Khavari PA.

JAMA Dermatol. 2013 Sep;149(9):1077-81. doi: 10.1001/jamadermatol.2013.4745.

PMID:
23884457
8.

Next-generation sequencing of nevus spilus-type congenital melanocytic nevus: exquisite genotype-phenotype correlation in mosaic RASopathies.

Kinsler VA, Krengel S, Riviere JB, Waelchli R, Chapusot C, Al-Olabi L, Faivre L, Haenssle HA, Weibel L, Jeudy G, Vabres P.

J Invest Dermatol. 2014 Oct;134(10):2658-2660. doi: 10.1038/jid.2014.195. Epub 2014 Apr 21. No abstract available.

9.

Epidermal, sebaceous, and melanocytic nevoid proliferations are spectrums of mosaic RASopathies.

Luo S, Tsao H.

J Invest Dermatol. 2014 Oct;134(10):2493-2496. doi: 10.1038/jid.2014.244.

10.

Cutaneous skeletal hypophosphatemia syndrome: clinical spectrum, natural history, and treatment.

Ovejero D, Lim YH, Boyce AM, Gafni RI, McCarthy E, Nguyen TA, Eichenfield LF, DeKlotz CM, Guthrie LC, Tosi LL, Thornton PS, Choate KA, Collins MT.

Osteoporos Int. 2016 Dec;27(12):3615-3626. Epub 2016 Aug 6.

PMID:
27497815
11.

Serum FGF23 levels in normal and disordered phosphorus homeostasis.

Weber TJ, Liu S, Indridason OS, Quarles LD.

J Bone Miner Res. 2003 Jul;18(7):1227-34.

12.

Making a mountain out of a molehill: NRAS, mosaicism, and large congenital nevi.

Gerami P, Paller AS.

J Invest Dermatol. 2013 Sep;133(9):2127-30. doi: 10.1038/jid.2013.146.

13.

Pathogenic role of Fgf23 in Dmp1-null mice.

Liu S, Zhou J, Tang W, Menard R, Feng JQ, Quarles LD.

Am J Physiol Endocrinol Metab. 2008 Aug;295(2):E254-61. doi: 10.1152/ajpendo.90201.2008. Epub 2008 Jun 17.

14.

Multiple congenital melanocytic nevi and neurocutaneous melanosis are caused by postzygotic mutations in codon 61 of NRAS.

Kinsler VA, Thomas AC, Ishida M, Bulstrode NW, Loughlin S, Hing S, Chalker J, McKenzie K, Abu-Amero S, Slater O, Chanudet E, Palmer R, Morrogh D, Stanier P, Healy E, Sebire NJ, Moore GE.

J Invest Dermatol. 2013 Sep;133(9):2229-36. doi: 10.1038/jid.2013.70. Epub 2013 Feb 7.

15.

BRAF mutations are also associated with neurocutaneous melanocytosis and large/giant congenital melanocytic nevi.

Salgado CM, Basu D, Nikiforova M, Bauer BS, Johnson D, Rundell V, Grunwaldt LJ, Reyes-Múgica M.

Pediatr Dev Pathol. 2015 Jan-Feb;18(1):1-9. doi: 10.2350/14-10-1566-OA.1. Epub 2014 Dec 9.

PMID:
25490715
16.

Combined melanocytic and sweat gland neoplasm: cell subsets harbor an identical HRAS mutation in phacomatosis pigmentokeratotica.

Li JY, Berger MF, Marghoob A, Bhanot UK, Toyohara JP, Pulitzer MP.

J Cutan Pathol. 2014 Aug;41(8):663-71. doi: 10.1111/cup.12339. Epub 2014 Jul 9.

17.

A Symmetric Eczematous Eruption Harboring Thousands of Melanocytic Lesions.

Ratushny V, Kraft S, Moschella SL, Duncan LM, Lawrence DP, Tsao H.

JAMA Dermatol. 2016 Sep 1;152(9):1021-4. doi: 10.1001/jamadermatol.2016.1150.

PMID:
27192392
18.

Lack of BRAF(V600E) mutations in giant congenital melanocytic nevi in a Chinese population.

Wu D, Wang M, Wang X, Yin N, Song T, Li H, Yu J, Wang DM, Zhao Z.

Am J Dermatopathol. 2011 Jun;33(4):341-4. doi: 10.1097/DAD.0b013e3181fb5bc7.

PMID:
21430505
19.

RAS in FGF23: another piece in the puzzle.

Ovejero D, Collins MT.

J Clin Endocrinol Metab. 2014 Jan;99(1):63-6. doi: 10.1210/jc.2013-4290. No abstract available.

20.

Proliferative nodules arising within congenital melanocytic nevi: a histologic, immunohistochemical, and molecular analyses of 43 cases.

Phadke PA, Rakheja D, Le LP, Selim MA, Kapur P, Davis A, Mihm MC Jr, Hoang MP.

Am J Surg Pathol. 2011 May;35(5):656-69. doi: 10.1097/PAS.0b013e31821375ea.

PMID:
21436676

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