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Items: 39

1.

Homozygous TRPV4 mutation causes congenital distal spinal muscular atrophy and arthrogryposis.

Velilla J, Marchetti MM, Toth-Petroczy A, Grosgogeat C, Bennett AH, Carmichael N, Estrella E, Darras BT, Frank NY, Krier J, Gaudet R, Gupta VA.

Neurol Genet. 2019 Mar 7;5(2):e312. doi: 10.1212/NXG.0000000000000312. eCollection 2019 Apr.

2.

Newly Defined ATP-binding cassette subfamily B member 5 Positive Dermal Mesenchymal Stem Cells Promote Healing of Chronic Iron-Overload Wounds via Secretion of Interleukin-1 Receptor Antagonist.

Vander Beken S, de Vries JC, Meier-Schiesser B, Meyer P, Jiang D, Sindrilaru A, Ferreira FF, Hainzl A, Schatz S, Muschhammer J, Scheurmann NJ, Kampilafkos P, Seitz AM, Dürselen L, Ignatius A, Kluth MA, Ganss C, Wlaschek M, Singh K, Maity P, Frank NY, Frank MH, Scharffetter-Kochanek K.

Stem Cells. 2019 Apr 19. doi: 10.1002/stem.3022. [Epub ahead of print]

PMID:
31002437
3.

In vivo safety profile and biodistribution of GMP-manufactured human skin-derived ABCB5-positive mesenchymal stromal cells for use in clinical trials.

Tappenbeck N, Schröder HM, Niebergall-Roth E, Hassinger F, Dehio U, Dieter K, Kraft K, Kerstan A, Esterlechner J, Frank NY, Scharffetter-Kochanek K, Murphy GF, Orgill DP, Beck J, Frank MH, Ganss C, Kluth MA.

Cytotherapy. 2019 May;21(5):546-560. doi: 10.1016/j.jcyt.2018.12.005. Epub 2019 Mar 14.

4.

An integrated clinical program and crowdsourcing strategy for genomic sequencing and Mendelian disease gene discovery.

Haghighi A, Krier JB, Toth-Petroczy A, Cassa CA, Frank NY, Carmichael N, Fieg E, Bjonnes A, Mohanty A, Briere LC, Lincoln S, Lucia S, Gupta VA, Söylemez O, Sutti S, Kooshesh K, Qiu H, Fay CJ, Perroni V, Valerius J, Hanna M, Frank A, Ouahed J, Snapper SB, Pantazi A, Chopra SS, Leshchiner I, Stitziel NO, Feldweg A, Mannstadt M, Loscalzo J, Sweetser DA, Liao E, Stoler JM, Nowak CB, Sanchez-Lara PA, Klein OD, Perry H, Patsopoulos NA, Raychaudhuri S, Goessling W, Green RC, Seidman CE, MacRae CA, Sunyaev SR, Maas RL, Vuzman D; Undiagnosed Diseases Network, Brigham and Women’s Hospital FaceBase Project, Brigham Genomic Medicine (BGM).

NPJ Genom Med. 2018 Aug 13;3:21. doi: 10.1038/s41525-018-0060-9. eCollection 2018. Review.

5.

ATP-binding cassette member B5 (ABCB5) promotes tumor cell invasiveness in human colorectal cancer.

Guo Q, Grimmig T, Gonzalez G, Giobbie-Hurder A, Berg G, Carr N, Wilson BJ, Banerjee P, Ma J, Gold JS, Nandi B, Huang Q, Waaga-Gasser AM, Lian CG, Murphy GF, Frank MH, Gasser M, Frank NY.

J Biol Chem. 2018 Jul 13;293(28):11166-11178. doi: 10.1074/jbc.RA118.003187. Epub 2018 May 22.

PMID:
29789423
6.

Repairing the corneal epithelium using limbal stem cells or alternative cell-based therapies.

Sasamoto Y, Ksander BR, Frank MH, Frank NY.

Expert Opin Biol Ther. 2018 May;18(5):505-513. doi: 10.1080/14712598.2018.1443442. Epub 2018 Mar 6. Review.

7.

Limbal stem cells: identity, developmental origin, and therapeutic potential.

Gonzalez G, Sasamoto Y, Ksander BR, Frank MH, Frank NY.

Wiley Interdiscip Rev Dev Biol. 2018 Mar;7(2). doi: 10.1002/wdev.303. Epub 2017 Nov 3. Review.

8.

Rapid generation of Col7a1-/- mouse model of recessive dystrophic epidermolysis bullosa and partial rescue via immunosuppressive dermal mesenchymal stem cells.

Webber BR, O'Connor KT, McElmurry RT, Durgin EN, Eide CR, Lees CJ, Riddle MJ, Mathews WE, Frank NY, Kluth MA, Ganss C, Moriarity BS, Frank MH, Osborn MJ, Tolar J.

Lab Invest. 2017 Oct;97(10):1218-1224. doi: 10.1038/labinvest.2017.85. Epub 2017 Sep 11.

9.

Brain MRS glutamine as a biomarker to guide therapy of hyperammonemic coma.

O'Donnell-Luria AH, Lin AP, Merugumala SK, Rohr F, Waisbren SE, Lynch R, Tchekmedyian V, Goldberg AD, Bellinger A, McFaline-Figueroa JR, Simon T, Gershanik EF, Levy BD, Cohen DE, Samuels MA, Berry GT, Frank NY.

Mol Genet Metab. 2017 May;121(1):9-15. doi: 10.1016/j.ymgme.2017.03.003. Epub 2017 Mar 10.

PMID:
28408159
10.

Deficiency of the immunostimulatory cytokine IL-21 promotes intestinal neoplasia via dysregulation of the Th1/Th17 axis.

Shapiro M, Nandi B, Gonzalez G, Prabhala RH, Mashimo H, Huang Q, Frank NY, Munshi NC, Gold JS.

Oncoimmunology. 2016 Dec 7;6(1):e1261776. doi: 10.1080/2162402X.2016.1261776. eCollection 2017.

11.

Dissecting a Case of Abdominal Pain.

Casey J, Vaidya A, Frank NY, Beckman JA, Miller A.

N Engl J Med. 2016 Oct 27;375(17):e35. No abstract available.

PMID:
27783920
12.

Stromal CCR6 drives tumor growth in a murine transplantable colon cancer through recruitment of tumor-promoting macrophages.

Nandi B, Shapiro M, Samur MK, Pai C, Frank NY, Yoon C, Prabhala RH, Munshi NC, Gold JS.

Oncoimmunology. 2016 May 24;5(8):e1189052. doi: 10.1080/2162402X.2016.1189052. eCollection 2016 Aug.

13.

Loss of function mutation in LOX causes thoracic aortic aneurysm and dissection in humans.

Lee VS, Halabi CM, Hoffman EP, Carmichael N, Leshchiner I, Lian CG, Bierhals AJ, Vuzman D; Brigham Genomic Medicine, Mecham RP, Frank NY, Stitziel NO.

Proc Natl Acad Sci U S A. 2016 Aug 2;113(31):8759-64. doi: 10.1073/pnas.1601442113. Epub 2016 Jul 18.

14.

Suppression of Neutrophil-Mediated Tissue Damage-A Novel Skill of Mesenchymal Stem Cells.

Jiang D, Muschhammer J, Qi Y, Kügler A, de Vries JC, Saffarzadeh M, Sindrilaru A, Beken SV, Wlaschek M, Kluth MA, Ganss C, Frank NY, Frank MH, Preissner KT, Scharffetter-Kochanek K.

Stem Cells. 2016 Sep;34(9):2393-406. doi: 10.1002/stem.2417. Epub 2016 Jun 27.

15.

An argument for early genomic sequencing in atypical cases: a WISP3 variant leads to diagnosis of progressive pseudorheumatoid arthropathy of childhood.

Cassa CA, Smith SE, Docken W, Hoffman E, McLaughlin H, Chun S, Leshchiner I, Miraoui H, Raychaudhuri S, Frank NY, Wilson BJ, Sunyaev SR, Maas RL; Brigham Genomic Medicine, Vuzman D.

Rheumatology (Oxford). 2016 Mar;55(3):586-9. doi: 10.1093/rheumatology/kev367. Epub 2015 Oct 22. No abstract available.

16.

ABCB5 Identifies Immunoregulatory Dermal Cells.

Schatton T, Yang J, Kleffel S, Uehara M, Barthel SR, Schlapbach C, Zhan Q, Dudeney S, Mueller H, Lee N, de Vries JC, Meier B, Vander Beken S, Kluth MA, Ganss C, Sharpe AH, Waaga-Gasser AM, Sayegh MH, Abdi R, Scharffetter-Kochanek K, Murphy GF, Kupper TS, Frank NY, Frank MH.

Cell Rep. 2015 Sep 8;12(10):1564-74. doi: 10.1016/j.celrep.2015.08.010. Epub 2015 Aug 28.

17.

Expression of Multidrug Resistance Transporter ABCB5 in a Murine Model of Human Conjunctival Melanoma.

de Waard NE, Kolovou PE, McGuire SP, Cao J, Frank NY, Frank MH, Jager MJ, Ksander BR.

Ocul Oncol Pathol. 2015 Apr;1(3):182-189.

18.

Mosaic focal dermal hypoplasia caused by a novel somatic mutation in PORCN detected in affected skin.

Sheu J, Divito SJ, Hoffman EP, Frank NY, Merola JF.

Br J Dermatol. 2015 Aug;173(2):568-70. doi: 10.1111/bjd.13649. Epub 2015 Jun 6. No abstract available.

PMID:
25640089
19.

Restoring the cornea from limbal stem cells.

Frank MH, Frank NY.

Regen Med. 2015;10(1):1-4. doi: 10.2217/rme.14.66. No abstract available.

20.

ABCB5 is a limbal stem cell gene required for corneal development and repair.

Ksander BR, Kolovou PE, Wilson BJ, Saab KR, Guo Q, Ma J, McGuire SP, Gregory MS, Vincent WJ, Perez VL, Cruz-Guilloty F, Kao WW, Call MK, Tucker BA, Zhan Q, Murphy GF, Lathrop KL, Alt C, Mortensen LJ, Lin CP, Zieske JD, Frank MH, Frank NY.

Nature. 2014 Jul 17;511(7509):353-7. doi: 10.1038/nature13426. Epub 2014 Jul 2.

21.

ABCB5 maintains melanoma-initiating cells through a proinflammatory cytokine signaling circuit.

Wilson BJ, Saab KR, Ma J, Schatton T, Pütz P, Zhan Q, Murphy GF, Gasser M, Waaga-Gasser AM, Frank NY, Frank MH.

Cancer Res. 2014 Aug 1;74(15):4196-207. doi: 10.1158/0008-5472.CAN-14-0582. Epub 2014 Jun 16.

22.

The multidrug-resistance transporter ABCB5 is expressed in human placenta.

Volpicelli ER, Lezcano C, Zhan Q, Girouard SD, Kindelberger DW, Frank MH, Frank NY, Crum CP, Murphy GF.

Int J Gynecol Pathol. 2014 Jan;33(1):45-51. doi: 10.1097/PGP.0b013e31829c677f.

23.

Novel double heterozygous mutations in MEFV and NLRP3 genes in a patient with familial Mediterranean fever.

Timerman D, Frank NY.

J Clin Rheumatol. 2013 Dec;19(8):452-3. doi: 10.1097/RHU.0000000000000044. No abstract available.

PMID:
24263150
24.

Stem cells and targeted approaches to melanoma cure.

Murphy GF, Wilson BJ, Girouard SD, Frank NY, Frank MH.

Mol Aspects Med. 2014 Oct;39:33-49. doi: 10.1016/j.mam.2013.10.003. Epub 2013 Oct 19. Review.

25.

Genetically determined ABCB5 functionality correlates with pigmentation phenotype and melanoma risk.

Lin JY, Zhang M, Schatton T, Wilson BJ, Alloo A, Ma J, Qureshi AA, Frank NY, Han J, Frank MH.

Biochem Biophys Res Commun. 2013 Jul 5;436(3):536-42. doi: 10.1016/j.bbrc.2013.06.006. Epub 2013 Jun 12.

26.

ABCB5 identifies a therapy-refractory tumor cell population in colorectal cancer patients.

Wilson BJ, Schatton T, Zhan Q, Gasser M, Ma J, Saab KR, Schanche R, Waaga-Gasser AM, Gold JS, Huang Q, Murphy GF, Frank MH, Frank NY.

Cancer Res. 2011 Aug 1;71(15):5307-16. doi: 10.1158/0008-5472.CAN-11-0221. Epub 2011 Jun 7.

27.

Colorectal Cancer Stem Cells: Biology and Therapeutic Implications.

Wilson BJ, Schatton T, Frank MH, Frank NY.

Curr Colorectal Cancer Rep. 2011 Jun;7(2):128-135.

28.

VEGFR-1 expressed by malignant melanoma-initiating cells is required for tumor growth.

Frank NY, Schatton T, Kim S, Zhan Q, Wilson BJ, Ma J, Saab KR, Osherov V, Widlund HR, Gasser M, Waaga-Gasser AM, Kupper TS, Murphy GF, Frank MH.

Cancer Res. 2011 Feb 15;71(4):1474-85. doi: 10.1158/0008-5472.CAN-10-1660. Epub 2011 Jan 6.

29.

Isolation of tumorigenic circulating melanoma cells.

Ma J, Lin JY, Alloo A, Wilson BJ, Schatton T, Zhan Q, Murphy GF, Waaga-Gasser AM, Gasser M, Stephen Hodi F, Frank NY, Frank MH.

Biochem Biophys Res Commun. 2010 Nov 26;402(4):711-7. doi: 10.1016/j.bbrc.2010.10.091. Epub 2010 Oct 25.

30.

A novel in vivo regulatory role of P-glycoprotein in alloimmunity.

Izawa A, Schatton T, Frank NY, Ueno T, Yamaura K, Pendse SS, Margaryan A, Grimm M, Gasser M, Waaga-Gasser AM, Sayegh MH, Frank MH.

Biochem Biophys Res Commun. 2010 Apr 9;394(3):646-52. doi: 10.1016/j.bbrc.2010.03.040. Epub 2010 Mar 15.

31.

Modulation of T-cell activation by malignant melanoma initiating cells.

Schatton T, Schütte U, Frank NY, Zhan Q, Hoerning A, Robles SC, Zhou J, Hodi FS, Spagnoli GC, Murphy GF, Frank MH.

Cancer Res. 2010 Jan 15;70(2):697-708. doi: 10.1158/0008-5472.CAN-09-1592. Epub 2010 Jan 12.

32.

The therapeutic promise of the cancer stem cell concept.

Frank NY, Schatton T, Frank MH.

J Clin Invest. 2010 Jan;120(1):41-50. doi: 10.1172/JCI41004. Review.

33.

Identification and targeting of cancer stem cells.

Schatton T, Frank NY, Frank MH.

Bioessays. 2009 Oct;31(10):1038-49. doi: 10.1002/bies.200900058. Review.

34.

ABCB5 gene amplification in human leukemia cells.

Frank NY, Frank MH.

Leuk Res. 2009 Oct;33(10):1303-5. doi: 10.1016/j.leukres.2009.04.035. Epub 2009 May 27. No abstract available.

35.

Identification of cells initiating human melanomas.

Schatton T, Murphy GF, Frank NY, Yamaura K, Waaga-Gasser AM, Gasser M, Zhan Q, Jordan S, Duncan LM, Weishaupt C, Fuhlbrigge RC, Kupper TS, Sayegh MH, Frank MH.

Nature. 2008 Jan 17;451(7176):345-9. doi: 10.1038/nature06489.

36.

Regulation of myogenic progenitor proliferation in human fetal skeletal muscle by BMP4 and its antagonist Gremlin.

Frank NY, Kho AT, Schatton T, Murphy GF, Molloy MJ, Zhan Q, Ramoni MF, Frank MH, Kohane IS, Gussoni E.

J Cell Biol. 2006 Oct 9;175(1):99-110. Epub 2006 Oct 2.

37.

Myogenic potential of muscle side and main population cells after intravenous injection into sub-lethally irradiated mdx mice.

Muskiewicz KR, Frank NY, Flint AF, Gussoni E.

J Histochem Cytochem. 2005 Jul;53(7):861-73.

PMID:
15995145
38.

ABCB5-mediated doxorubicin transport and chemoresistance in human malignant melanoma.

Frank NY, Margaryan A, Huang Y, Schatton T, Waaga-Gasser AM, Gasser M, Sayegh MH, Sadee W, Frank MH.

Cancer Res. 2005 May 15;65(10):4320-33.

39.

Regulation of progenitor cell fusion by ABCB5 P-glycoprotein, a novel human ATP-binding cassette transporter.

Frank NY, Pendse SS, Lapchak PH, Margaryan A, Shlain D, Doeing C, Sayegh MH, Frank MH.

J Biol Chem. 2003 Nov 21;278(47):47156-65. Epub 2003 Sep 7.

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