The Manton Center for Orphan Disease Research
May 2009 - August 2009
Essential role for TRPC5 in amygdala function and fear-related behavior.
Cell. 2009 May 15;137(4):761-72.
Riccio A, Li Y, Moon J, Kim KS, Smith KS, Rudolph U, Gapon S, Yao GL, Tsvetkov E, Rodig SJ, Van't Veer A, Meloni EG, Carlezon WA Jr, Bolshakov VY, Clapham DE
Department of Cardiology, Howard Hughes Medical Institute, The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA 02115, USA.
Generation of induced pluripotent stem cells from human blood.
Blood. 2009 May 28;113(22):5476-9. Epub 2009 Mar 18.
Loh YH, Agarwal S, Park IH, Urbach A, Huo H, Heffner GC, Kim K, Miller JD, Ng K, Daley GQ.
Department of Medicine, Division of Pediatric Hematology Oncology, Boston Children's Hospital, Dana-Farber Cancer Institute, Boston, MA 02115, USA.
Hv1 proton channels are required for high-level NADPH oxidase-dependent superoxide production during the phagocyte respiratory burst.
Proc Natl Acad Sci USA. 2009 May 5;106(18):7642-7.
Ramsey IS, Ruchti E, Kaczmarek JS, Clapham DE
Howard Hughes Medical Institute, Department of Neurobiology, Harvard Medical School, and Department of Cardiovascular Research, The Manton Center for Orphan Disease Research, Children's Hospital, 320 Longwood Avenue, Boston, MA 02115, USA.
Intracellular calcium strongly potentiates agonist-activated TRPC5 channels.
J Gen Physiol. 2009 May;133(5):525-46.
Blair NT, Kaczmarek JS, Clapham DE
Howard Hughes Medical Institute, Department of Cardiology and The Manton Center for Orphan Disease Research, Boston Children's Hospital, and Department of Neurobiology, Harvard Medical School, Boston, MA 02115, USA.
Recent advances in primary immunodeficiencies: identification of novel genetic defects and unanticipated phenotypes.
Pediatr Res. 2009 May;65(5 Pt 2):3R-12R.
Pessach I, Walter J, Notarangelo LD.
Division of Immunology, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts 02115, USA.
Tuberous sclerosis complex activity is required to control neuronal stress responses in an mTOR-dependent manner.
J Neurosci. 2009 May 6;29(18):5926-37.
Di Nardo A, Kramvis I, Cho N, Sadowski A, Meikle L, Kwiatkowski DJ, Sahin M
The F. M. Kirby Neurobiology Center, Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts 02115, USA.
Biomechanical forces promote embryonic haematopoiesis.
Nature. 2009 Jun 25;459(7250):1131-5. Epub 2009 May 13.
Adamo L, Naveiras O, Wenzel PL, McKinney-Freeman S, Mack PJ, Gracia-Sancho J, Suchy-Dicey A, Yoshimoto M, Lensch MW, Yoder MC, García-Cardeña G, Daley GQ.
Center for Excellence in Vascular Biology, Department of Pathology, Brigham and Women's Hospital and Harvard Medical School, Boston, Massachusetts 02115, USA.
Clinical features associated with an I126M alpha2-chimaerin mutation in a family with autosomal-dominant Duane retraction syndrome.
J APPOS. 2009 Jun;13(3):245-8.
Murillo-Correa CE, Kon-Jara V, Engle EC, Zenteno JC.
Department of Strabismus, Institute of Ophthalmology Conde de Valenciana, Mexico City, Mexico.
Fast-twitch sarcomeric and glycolytic enzyme protein loss in inclusion body myositis.
Muscle & Nerve. 2009 Jun;39(6):739-53.
Parker KC, Kong SW, Walsh RJ; Bch, Salajegheh M, Moghadaszadeh B, Amato AA, Nazareno R, Lin YY, Krastins B, Sarracino DA, Beggs AH, Pinkus JL, Greenberg SA
Harvard-Partners Center for Genetics and Genomics, Proteomics Core, Harvard Medical School, and The Manton Center for Orphan Disease Research, Boston, Massachusetts USA.
Genetic and demographic features of X-linked agammaglobulinemia in Eastern and Central Europe: a cohort study.
Mol Immunol. 2009 Jun;46(10):2140-6. Epub 2009 May 5.
Tóth B, Volokha A, Mihas A, Pac M, Bernatowska E, Kondratenko I, Polyakov A, Erdos M, Pasic S, Bataneant M, Szaflarska A, Mironska K, Richter D, Stavrik K, Avcin T, Márton G, Nagy K, Dérfalvi B, Szolnoky M, Kalmár A, Belevtsev M, Guseva M, Rugina A, Kriván G, Timár L, Nyul Z, Mosdósi B, Kareva L, Peova S, Chernyshova L, Gherghina I, Serban M, Conley ME, Notarangelo LD, Smith CI, van Dongen J, van der Burg M, Maródi L.
Department of Infectious and Pediatric Immunology, Medical and Health Science Center, University of Debrecen, Debrecen, Hungary.
Bone-marrow adipocytes as negative regulators of the haematopoietic microenvironment.
Nature. 2009 Jul 9;460(7252):259-63. Epub 2009 Jun 10.
Naveiras O, Nardi V, Wenzel PL, Hauschka PV, Fahey F, Daley GQ
Division of Pediatric Hematology/Oncology, Boston Children's Hospital and Dana Farber Cancer Institute, Massachusetts 02115, USA.
Early defects in human T-cell development severely affect distribution and maturation of thymic stromal cells: possible implications for the pathophysiology of Omenn syndrome.
Blood. 2009 Jul 2;114(1):105-8. Epub 2009 May 4.
Poliani PL, Facchetti F, Ravanini M, Gennery AR, Villa A, Roifman CM, Notarangelo LD.,br> Department of Pathology, University of Brescia, Brescia, Italy.
Lin28 promotes transformation and is associated with advanced human malignancies.
Nat Genet. 2009 Jul;41(7):843-8. Epub 2009 May 31.
Viswanathan SR, Powers JT, Einhorn W, Hoshida Y, Ng TL, Toffanin S, O'Sullivan M, Lu J, Phillips LA, Lockhart VL, Shah SP, Tanwar PS, Mermel CH, Beroukhim R, Azam M, Teixeira J, Meyerson M, Hughes TP, Llovet JM, Radich J, Mullighan CG, Golub TR, Sorensen PH, Daley GQ.
Boston Children's Hospital, Department of Biological Chemistry and Molecular Pharmacology, Harvard Medical School, Harvard Stem Cell Institute, Boston, MA, USA.
microRNA expression during trophectoderm specification and blastocyst development.
PLoS One. 2009 Jul 3;4(7):e6143.
Viswanathan SR, Mermel CH, Lu J, Lu C-W, Golub TR, Daley GQ.
Department of Biological Chemistry and Molecular Pharmacology, Harvard Medical School, Harvard Stem Cell Institute, Boston, MA, USA.
Surface antigen phenotypes of hematopoietic stem cells from embryos and murine embryonic stem cells.
Blood. 2009 Jul 9;114(2):268-78.
McKinney-Freeman SL, Naveiras O, Yates F, Loewer S, Philitas M, Curran M, Park PJ, Daley GQ
Division of Pediatric Hematology/Oncology, The Manton Center for Orphan Disease Research, Stem Cell Transplantation Program, Children's Hospital, Boston, MA, United States.
Thin filament length dysregulation contributes to muscle weakness in nemaline myopathy patients with nebulin deficiency.
Hum Mol Gen. 2009 Jul 1;18(13):2359-69. Epub 2009 Apr 4.
Ottenheijm CA, Witt CC, Stienen GJ, Labeit S, Beggs AH, Granzier H
Dept of Molecular and Cellular Biology, University of Arizona, Tucson, AZ 85724, USA, The Manton Center for Orphan Disease Research, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA.
A role for Lin28 in primordial germ-cell development and germ-cell malignancy.
Nature. 2009 Aug 13;460(7257):909-13. Epub 2009 Jul 5.
West JA, Viswanathan SR, Yabuuchi A, Cunniff K, Takeuchi A, Park IH, Sero JE, Zhu H, Perez-Atayde A, Frazier AL, Surani MA, Daley GQ.
Division of Pediatric Hematology/Oncology, Boston Children's Hospital and the Dana-Farber Cancer Institute, MA 02115, USA.
A single center experience in 20 patients with infantile malignant osteopetrosis.
Am J Hematology. 2009 Aug;84(8):473-9.
Mazzolari E, Forino C, Razza A, Porta F, Villa A, Notarangelo LD.
Department of Pediatrics, University of Brescia, 25123 Brescia, Italy.
X-linked primary immunodeficiencies as a bridge to better understanding X-chromosome related autoimmunity.
J Autoimmun. 2009 Aug;33(1):17-24. Epub 2009 Apr 9.
Pessach IM, Notarangelo LD.
Division of Immunology, Children's Hospital, Harvard Medical School, Boston, MA, USA.