Research

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2009

The exon 55 deletion in the nebulin gene - One single founder mutation with world-wide occurrence.
Neuromuscular Disorders. 2009 Mar;19(3):179-81. Epub 2009 Feb 15.

Lehtokari VL, Greenleaf RS, Dechene ET, Kellinsalmi M, Pelin K, Laing NG, Beggs AH, Wallgren-Pettersson C
The Folkhälsan Institute of Genetics and the Department of Medical Genetics, University of Helsinki, Helsinki, Finland and The Manton Center for Orphan Disease Research, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA.

Primary immunodeficiencies (PIDs) presenting with cytopenia.
Hematology Am Soc Hematol Educ Program. 2009:139-43.

Notarangelo LD
Division of Immunology and The Manton Center for Orphan Disease Research, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA.

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.

Immunodeficiencies.
Clin Exp Immunol. 2009 Dec;158 Suppl 1:14-22.

Ballow M, Notarangelo L, Grimbacher B, Cunningham-Rundles C, Stein M, Helbert M, Gathmann B, Kindle G, Knight AK, Ochs HD, Sullivan K, Franco JL.
Women and Children's Hospital of Buffalo, State University of New York at Buffalo, Buffalo, NY 14222, USA

The Serotonin-Related FEV Gene Variant in the Sudden Infant Death Syndrome is a Common Polymorphism in the African-American Population.
Pediatr Res. 2009 Dec;66(6):631-5.

Broadbelt KG, Barger MA, Paterson DS, Holm IA, Haas EA, Krous HF, Kinney HC, Markianos K, Beggs AH.
Department of Pathology [K.G.B., D.S.P., H.C.K.], Program in Genomics [M.A.B., I.A.H., K.M., A.H.B.], and The Manton Center for Orphan Disease Research [I.A.H., A.H.B.], Boston Children's Hospital and Harvard Medical School, Boston, MA, 02115; Rady Children's Hospital and Health Center [E.A.H., H.F.K.], University of California, San Diego School of Medicine, San Diego, CA, 92123.

Improving cellular therapy for primary immune deficiency diseases: recognition, diagnosis, and management.
J Allergy Clin Immunol. 2009 Dec;124(6):1152-60.e12.

Griffith LM, Cowan MJ, Notarangelo LD, Puck JM, Buckley RH, Candotti F, Conley ME, Fleisher TA, Gaspar HB, Kohn DB, Ochs HD, O'Reilly RJ, Rizzo JD, Roifman CM, Small TN, Shearer WT; Workshop Participants.
Division of Allergy, Immunology and Transplantation, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD, USA, Division of Immunology, Boston Children's Hospital, Boston, MA, USA.

Mutations of tropomyosin 3 (TPM3) are common and associated with type 1 myofiber hypotrophy in congenital fiber type disproportion.
Human Mutation. 2009 Dec 1

Lawlor MW, DeChene ET, Roumm E, Geggel AS, Moghadaszadeh B, Beggs AH.
Division of Genetics and Program in Genomics, The Manton Center for Orphan Disease Research, Boston Children's Hospital, Harvard Medical School, Boston, MA.

A Truncating Mutation of TRAPPC9 Is Associated with Autosomal-Recessive Intellectual Disability and Postnatal Microcephaly.
Am J Hum Genet. 2009 Dec;85(6):897-902.

Mochida GH, Mahajnah M, Hill AD, Basel-Vanagaite L, Gleason D, Hill RS, Bodell A, Crosier M, Straussberg R, Walsh CA.
Department of Neurology, Beth Israel Deaconess Medical Center, Harvard Medical School, Boston, MA 02115, USA.

T-tubule disorganization and defective excitation-contraction coupling in muscle fibers lacking myotubularin lipid phosphatase.
Proc Natl Acad Sci U S A. 2009 Nov 3;106(44):18763-8. Epub 2009 Oct 21.

Al-Qusairi L, Weiss N, Toussaint A, Berbey C, Messaddeq N, Kretz C, Sanoudou D, Beggs AH, Allard B, Mandel JL, Laporte J, Jacquemond V, Buj-Bello A.
Department of Neurobiology and Genetics, and Imaging Center-Electron Microscopy, Institut de Génétique et de Biologie Moléculaire et Cellulaire, Institut National de la Santé et de la Recherche Médicale U964, Centre National de la Recherche Scientifique, Unite Mixte de Recherche 7104, Université Louis Pasteur, Collège de France, 67404 Illkirch, France.

Live cell imaging distinguishes bona fide human iPS cells from partially reprogrammed cells.
Nat Biotechnol. 2009 Nov;27(11):1033-7. Epub 2009 Oct 11.

Chan EM, Ratanasirintrawoot S, Park IH, Manos PD, Loh YH, Huo H, Miller JD, Hartung O, Rho J, Ince TA, Daley GQ, Schlaeger TM.
Division of Pediatric Hematology/Oncology, Boston Children's Hospital and Dana-Farber Cancer Institute, Boston, Massachusetts, USA

Synergistic divergence: a distinct ocular motility dysinnervation pattern.
Invest Ophthalmol Vis Sci. 2009 Nov;50(11):5213-6. Epub 2009 Jul 2

Oystreck DT, Khan AO, Vila-Coro AA, Oworu O, Al-Tassan N, Chan WM, Engle EC, Bosley TM.
Genetics Division, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia; Depts. Neurology and Ophthalmology and the Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, Massachusetts

Automated DNA mutation detection using universal conditions direct sequencing: application to ten muscular dystrophy genes.
BMC Genet. 2009 Oct 18;10:66.

Bennett RR, Schneider HE, Estrella E, Burgess S, Cheng AS, Barrett C, Lip V, Lai PS, Shen Y, Wu BL, Darras BT, Beggs AH, Kunkel LM.
Program in Genomics and Division of Genetics, and The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, Massachusetts, USA.

ITGB2 mutation combined with deleted ring 21 chromosome in a child with leukocyte adhesion deficiency.
J Allergy Clin Immunol. 2009 Oct 26. [Epub ahead of print]

Fiorini M, Piovani G, Schumacher RF, Magri C, Bertini V, Mazzolari E, Notarangelo L, Notarangelo LD, Barlati S.
"Angelo Nocivelli" Institute for Molecular Medicine, University of Brescia, Italy; Division of Immunology and Manton Center for Orphan Disease Research, Children's Hospital, Harvard Medical School, Boston, MA

How I treat ADA deficiency.
Blood. 2009 Oct 22;114(17):3524-32. Epub 2009 Jul 28.

Gaspar HB, Aiuti A, Porta F, Candotti F, Hershfield MS, Notarangelo LD
Centre for Immunodeficiency, Molecular Immunology Unit, University College London Institute of Child Health, London, United Kingdom

Genome-wide RNAi screen identifies Letm1 as a mitochondrial Ca2+/H+ antiporter.
Science. 2009 Oct 2;326(5949):144-7.

Jiang D, Zhao L, Clapham DE.
Department of Cardiology, Howard Hughes Medical Institute, Boston Children's Hospital, Manton Center for Orphan Disease, and Department of Neurobiology, Harvard Medical School, Enders Building 1309, 320 Longwood Avenue, Boston, MA 02115, USA.

Primary immunodeficiencies: increasing market share.
Curr Opin Immunol. 2009 Oct;21(5):461-5. Epub 2009 Sep 30.

Notarangelo LD, Casanova JL.
Division of Immunology and The Manton Center for Orphan Disease Research, Children's Hospital, Harvard University, Boston, MA, USA; Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, Rockefeller University Hospital, The Rockefeller University, New York, NY 10065, USA; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Paris Descartes University and Inserm, U550, Necker Medical School and Hospital, Paris F 75015, EU, France

Application of induced pluripotent stem cells to hematologic disease.
Cytotherapy. 2009;11(8):980-9.

Kim PG, Daley GQ.
Division of Pediatric Hematology Oncology, Children's Hospital, Boston, Massachusetts 02115, USA.

Primary immunodeficiencies (PIDs) presenting as cytopenias.
Hematology Am Soc Hematol Educ Program. 2009:139-43.

Notarangelo LD.
Manton Center for Orphan Disease Research and Division of Immunology, Boston Children's Hospital, Boston, MA 02115, USA.

2nd Conference of the Robert A. Good immunology society primary immune deficiencies and immune reconstitution Harvard Medical Boston, November 16th, 17th.
Immunol Res. 2009;44:1–3 DOI 10.1007/s12026-009-8110-0.

Notarangelo L, Day N, Fleisher T.
Department of Pediatrics and Pathology, Havard Med. School, The Manton Center for Orphan Disease Res., and Div. of Immunology, Children's Hosp. Boston, Boston, MA, 02115, USA.

Disease models from pluripotent stem cells.
Ann N Y Acad Sci. 2009 Sept:1176:191-6.

Lengerke C, Daley GQ.
Division of Hematology and Oncology, University of Tuebingen Medical Center II, Tuebingen, Germany.

The syndrome of perisylvian polymicrogyria with congenital arthrogryposis.
Brain Dev. 2009 Sept 12 [Epub ahead of print].

Poduri A, Chitsazzadeh V, D'Arrigo S, Fedrizzi E, Pantaleoni C, Riva D, Busse C, Küster H, Duplessis A, Gaitanis J, Sahin M, Garganta C, Topcu M, Dies KA, Barry BJ, Partlow J, Barkovich AJ, Walsh CA, Chang BS.
Division of Epilepsy and Clinical Neurophysiology, Department of Neurology, Boston Children's Hospital and Harvard Medical School, Boston, MA, United States.

Mammalian MagT1 and TUSC3 are required for cellular magnesium uptake and vertebrate embryonic development.
Proc Natl Acad Sci USA. 2009 Sept 15; 106(37):15750-5. Epub 2009 Aug 26.

Zhou H, Clapham DE.
Department of Cardiology, Howard Hughes Medical Institute, Manton Center for Orphan Disease, Boston Children's Hospital, and Harvard Medical School, 1309 Enders, 320 Longwood Avenue, Boston, MA 02115, USA.

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