Research

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2011

A novel gene required for male fertility and functional CATSPER channel formation in spermatozoa.

Nature Comm, 2:153. DOI:10.1038/ncomms1153.

Chung, J-J, Navarro, B, Krapivinsky, G, Krapivinsky, L, and Clapham, DE. 2011.

1] Howard Hughes Medical Institute, Manton Center for Orphan Disease, Children's Hospital, Boston, Massachusetts 02115, USA.. [2] Department of Neurobiology, Harvard Medical School, Enders 1309, 320 Longwood Avenue, Boston, Massachusetts 02115, USA.

Myotubularin controls desmin intermediate filament architecture and mitochondrial dynamics in human and mouse skeletal muscle.

J Clin Invest. 2011 Jan 4;121(1):70-85. doi: 10.1172/JCI44021. Epub 2010 Dec 6.

Hnia K, Tronchère H, Tomczak KK, Amoasii L, Schultz P, Beggs AH, Payrastre B, Mandel JL, Laporte J.

Department of Neurobiology and Genetics, Institut de Génétique et de Biologie Moléculaire et Cellulaire, Illkirch, France.

Novel mutations in NEB cause abnormal nebulin expression and markedly impaired muscle force generation in severe nemaline myopathy.

Skeletal Muscle2011, 1:23.

Lawlor MW, Ottenheijm CA, Lehtokari V-L, Cho K, Pelin K, Wallgren-Pettersson C, Granzier H, Beggs AH.

Division of Genetics and Program in Genomics, The Manton Center for Orphan Disease Research, Boston Children's Hospital, Harvard Medical School, 300 Longwood Avenue, CLSB 15026, Boston, MA 02115, USA. beggs@enders.tch.harvard.edu.

Gene therapy for primary immunodeficiencies: Looking ahead, toward gene correction.

J Allergy Clin Immuno.2011;127:1344-50.

Pessach IM, Notarangelo LD.

Department of Pediatric Critical Care and Talpiot Medical Leadership Program, Safra Children's Hospital, Sheba Medical Center, Tel-Hashomer, Israel.

Structural grading of foveal hypoplasia using spectral domain optical coherence tomography: A predictor of visual acuity?

Ophthalmology. 2011 April 28. [Epub ahead of print].

Thomas MG, Kumar A, Proudlock FA, Engle EC, Andrews C, Chan W-M, Thomas S, Gottlob, I.

Ophthalmology Group, School of Medicine, University of Leicester, Leicester, United Kingdom.

Two novel CHN1 mutations in two families with Duane's retraction syndrome.

Archives of Ophthalmology, 2011 129(5):649-52.

Chan W-M, Miyake N, Zhu-Tam L, Andrews C, Engle EC.

Department of Neurology, Boston Children's Hospital, 300 Longwood Ave, Boston, MA 02115, USA.

Inhibition of activin receptor type IIB increases strength and lifespan in myotubularin-deficient mice.

Am J Pathol. 2011 Feb;178(2):784-93.

Lawlor MW, Read BP, Edelstein R, Yang N, Pierson CR, Stein MJ, Wermer-Colan A, Buj-Bello A, Lachey JL, Seehra JS, Beggs AH. 

Division of Genetics and Program in Genomics, The Manton Center for Orphan Disease Research, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.

Ultra fast and sensitive liquid chromatography andem mass spectrometry based assay for galactose-1-phosphate uridylyltransferase and galactokinase deficiencies.

Mol Genet Metab. 2011 Jan;102(1):33-40. Epub 2010 Sep 21.

Li Y, Ptolemy AS, Harmonay L, Kellogg M, Berry GT.

The Manton Center for Orphan Disease Research, Division of Genetics, Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.

A 9-month-old boy with seizures and discrepant urine tryptophan concentrations.

Clin Chem. 2011 Apr;57(4):545-8.

Ptolemy AS, Li Y, Sanderson T, Khwaja O, Berry GT, Kellogg M.

Department of Laboratory Medicine, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA. adam.ptolemy@covance.com.

Tet1 and Tet2 regulate 5-hydroxymethylcytosine production and cell lineage specification in mouse embryonic stem cells.

Cell Stem Cell. 2011 Feb 4;8(2):200-13.

Koh KP, Yabuuchi A, Rao S, Huang Y, Cunniff K, Nardone J, Laiho A, Tahiliani M, Sommer CA, Mostoslavsky G, Lahesmaa R, Orkin SH, Rodig SJ, Daley GQ, Rao A.

Immune Disease Institute and Program in Cellular and Molecular Medicine, Boston Children's Hospital, Boston, MA 02115, USA.

Cellular therapy for fanconi anemia: the past, present, and future.

Biol Blood Marrow Transplant. 2011 Jan;17(1 Suppl):S109-14.

MacMillan ML, Hughes MR, Agarwal S, Daley GQ.

The Division of Pediatric Hematology, Oncology, and Blood and Marrow Transplantation, University of Minnesota Blood and Marrow Transplant Program, Minneapolis, Minnesota, USA. macmi002@umn.edu.

Stage-specific signaling through TGFβ family members and WNT regulates patterning and pancreatic specification of human pluripotent stem cells.

Development. 2011 Mar; 38(5):861-71. Epub 2011 Jan 26.

Nostro MC, Sarangi F, Ogawa S, Holtzinger A, Corneo B, Li X, Micallef SJ, Park IH, Basford C, Wheeler MB, Daley GQ, Elefanty AG, Stanley EG, Keller G.

McEwen Centre for Regenerative Medicine, University Health Network, Toronto, Ontario, Canada.

Hematopoietic differentiation of induced pluripotent stem cells from patients with mucopolysaccharidosis type I (Hurler syndrome).

Blood. 2011 Jan 20;117(3):839-47. Epub 2010 Oct 29.

Tolar J, Park IH, Xia L, Lees CJ, Peacock B, Webber B, McElmurry RT, Eide CR, Orchard PJ, Kyba M, Osborn MJ, Lund TC, Wagner JE, Daley GQ, Blazar BR.

Division of Hematology-Oncology, Blood and Marrow Transplantation, Department of Pediatrics, University of MN, Minneapolis, MN, USA. tolar003@umn.edu.

Transplantation of Adult Mouse iPS Cell-Derived Photoreceptor Precursors Restores Retinal Structure and Function in Degenerative Mice.

PLoS One. 2011 Apr 29;6(4):e18992. PMID: 21559507.

Tucker BA, Park IH, Qi SD, Klassen HJ, Jiang C, Yao J, Redenti S, Daley GQ, Young MJ.

Department of Ophthalmology, Institute for Vision Research, Carver College of Medicine, University of Iowa, Iowa City, Iowa, United States of America. budd-tucker@uiowa.edu.

Induced pluripotent stem cells for neural tissue engineering.

Biomaterials. 2011 Apr 21, PMID: 21514663.

Wang A, Tang Z, Park IH, Zhu Y, Patel S, Daley GQ, Li S.

Department of Bioengineering, University of California, Berkeley, B108A Stanley Hall, Berkeley, CA 94720-1762, USA.

Investigating monogenic and complex diseases with pluripotent stem cells.

Nat Rev Genet. 2011 Apr;12(4):266-75. Epub 2011 Mar 9.

Zhu H, Lensch MW, Cahan P, Daley GQ.

Division of Medical Oncology, Dana-Farber Cancer Institute, Boston, Massachusetts 02115, USA.

Congenital Microcephaly with a Simplified Gyral Pattern: Associated Findings and Their Significance.

AJNR. Am J Neuroradiol. 2011 Mar 31.

Adachi Y, Poduri A, Kawaguch A, Yoon G, Salih MA, Yamashita F, Walsh CA, Barkovich AJ.

Department of Radiology and Biomedical Imaging, University of California, San Francisco, San Francisco, California.

Human Mutations in NDE1 Cause Extreme Microcephaly with Lissencephaly.

Am J Hum Genet. 2011 Apr 29.

Alkuraya FS, Cai X, Emery C, Mochida GH, Al-Dosari MS, Felie JM, Hill RS, Barry BJ, Partlow JN, Gascon GG, Kentab A, Jan M, Shaheen R, Feng Y, Walsh CA.

Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh 11211, Saudi Arabia.

A forward genetic screen with a thalamocortical axon reporter mouse yields novel neurodevelopment mutants and a distinct emx2 mutant phenotype.

Neural Dev. 2011 Jan 7;6:3.

Dwyer ND, Manning DK, Moran JL, Mudbhary R, Fleming MS, Favero CB, Vock VM, O'Leary DD, Walsh CA, Beier DR.

Howard Hughes Medical Institute, Department of Neurology, Beth Israel Deaconess Medical Center, Boston, MA, USA. ndwyer@virginia.edu.

The cerebrospinal fluid provides a proliferative niche for neural progenitor cells.

Neuron. 2011 Mar 10;69(5):893-905.

Lehtinen MK, Zappaterra MW, Chen X, Yang YJ, Hill AD, Lun M, Maynard T, Gonzalez D, Kim S, Ye P, D'Ercole AJ, Wong ET, Lamantia AS, Walsh CA.

Division of Genetics, Howard Hughes Medical Institute, Boston Children's Hospital, Boston, MA 02115, USA.

Loss-of-function mutations in PTPN11 cause metachondromatosis, but not Ollier disease or Maffucci syndrome.

PLoS Genet. 2011 Apr;7(4):e1002050. Epub 2011 Apr 14.

Bowen ME, Boyden ED, Holm IA, Campos-Xavier B, Bonafé L, Superti-Furga A, Ikegawa S, Cormier-Daire V, Bovée JV, Pansuriya TC, de Sousa SB, Savarirayan R, Andreucci E, Vikkula M, Garavelli L, Pottinger C, Ogino T, Sakai A, Regazzoni BM, Wuyts W, Sangiorgi L, Pedrini E, Zhu M, Kozakewich HP, Kasser JR, Seidman JG, Kurek KC, Warman ML.

Department of Orthopaedic Surgery, Boston Children's Hospital and Harvard Medical School, Boston, Massachusetts, United States of America.

Gene expression profiling of skeletal muscles treated with a soluble activin type IIB receptor.

Physiol Genomics. 2011 Apr 27;43(8):398-407. Epub 2011 Jan 25.

Rahimov F, King OD, Warsing LC, Powell RE, Emerson CP Jr, Kunkel LM, Wagner KR.

Program in Genomics, Division of Genetics, Boston Children's Hospital, Harvard Medical School, Boston, USA.

TRPM7, the Mg(2+) Inhibited Channel and Kinase.

Adv Exp MedBiol. 2011;704:173-83.

Bates-Withers C, Sah R, Clapham DE.

Department of Cardiology, Howard Hughes Medical Institute, Manton Center for Orphan Disease, Boston Children's Hospital, 02115 Boston, MA, USA. cbateswithers@gmail.com.

Resveratrol Inhibits Pathological Retinal Neovascularization in Vldlr-/- Mice.

Invest Ophthalmol Vis Sci. 2011. Apr 25;52(5):2809-16.

Hua J, Guerin KI, ChenJ, Michan S, Stahl A, Krah NM, Seaward MR, Dennison RJ, Juan AM, Hatton CJ, Sapieha P, Sinclair D, Smith LE.

Department of Ophthalmology, Harvard Medical School, Children's Hospital, Boston, Massachusetts 02115, USA.

May 2011 - August 2011

The zebrafish dag1 mutant: a novel genetic model for dystroglycanopathies.

Hum Mol Genet. 2011 May 1;20(9):1712-25. Epub 2011 Feb 4.

Gupta V, Kawahara G, Gundry SR, Chen AT, Lencer WI, Zhou Y, Zon LI, Kunkel LM, Beggs AH.

Genomics Program and Division of Genetics, The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA 02115, USA.

Changes in cross-bridge cycling underlie muscle weakness in patients with tropomyosin 3-based myopathy.

Hum Mol Genet. 2011 May 15;20(10):2015-25. Epub 2011 Feb 28.

Ottenheijm CA, Lawlor MW, Stienen GJ, Granzier H, Beggs AH.

Department of Physiology, Institute for Cardiovascular Research, VU University Medical Center, Amsterdam 1081 BT, The Netherlands. c.ottenheijm@vumc.nl.

Ddx18 is essential for cell cycle progression in zebrafish hematopoietic cells and is mutated in human acute myeloid leukemia.

Blood 2011 Jun 7. [Epub ahead of print].

Payne EM, Bolli N, Rhodes J, Abdel-Wahab O, Levine RL, Hedvat C, Stone R, Khanna-Gupta A, Sun H, Kanki J, Gazda HT, Beggs AH, Cotter F, and Look AT.

Department of Pediatric Oncology, Dana-Farber Cancer Institute, Harvard Medical School, Boston, MA.

Phenotypic spectrum of the tubulin-related disorders and functional implications of disease-causing mutations.

Current Opinion in Genetics and Development, 2011 Jun;21(3):286-94.

Tischfield MA, Cederquist GY, Gupta ML, Engle EC.

Department of Molecular Biology and Genetics, Johns Hopkins Medical School, 725 North Wolfe St., PCTB 804, Baltimore, MD 21205, United States.

Reduced thymic output, cell cycle abnormalities, and increased apoptosis of T lymphocytes in patients with cartilage-hair hypoplasia.

J Allergy  Clin Immunol2011 May 12. [Epub ahead of print].

de la Fuente MA, Recher M, Rider NL, Strauss KA, Morton DH, Adair M, Bonilla FA, Ochs HD, Gelfand EW, Pessach IM, Walter JE, King A, Giliani S, Pai SY, Notarangelo LD.

Division of Immunology and the Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, Mass.

Long-term outcome and lineage-specific chimerism in  194 Wiskott-Aldrich Syndrome patients treated by hematopoietic cell transplantation between 1980-2009: an international collaborative study.

Blood2011 Jun 9. [Epub ahead of print].

Moratto D, Giliani S, Bonfim C, Mazzolari E, Fischer A, Ochs HD, Cant AJ, Thrasher AJ, Cowan MJ, Albert MH, Small T, Pai SY, Haddad E, Lisa A, Hambleton S, Slatter M, Cavazzana-Calvo M, Mahlaoui N, Picard C, Torgerson TR, Burroughs L, Koliski A, Zanis Neto J, Porta F, Qasim W, Veys P, Kavanau K, Hönig M, Schulz A,  Friedrich W, Notarangelo LD.

"A. Nocivelli" Institute for Molecular Medicine, Pediatric Clinic, University of Brescia, and Laboratory of Genetic Disorders of Childhood, Spedali Civili, Brescia, Italy.

What disorders of cortical development tell us about the cortex: one plus one does not always make two.

Curr Opin Genet Dev. 2011 Jun;21(3):333-9.

Manzini MC, Walsh CA.

Division of Genetics, Manton Center for Orphan Disease Research and Howard Hughes Medical Institute, Boston Children's Hospital, Boston, MA 02115, United States.

Isolation and transcriptome analysis of adult zebrafish cells enriched for skeletal muscle progenitors. Muscle Nerve.

2011 May;43(5):741-50. doi: 10.1002/mus.21972. Epub 2011 Feb 17.

Alexander MS, Kawahara G, Kho AT, Howell MH, Pusack TJ, Myers JA, Montanaro F, Zon LI, Guyon JR, Kunkel LM.

Howard Hughes Medical Institute, Center for Life Science, Room CLS15027.1, Boston Children's Hospital, 3 Blackfan Circle, Boston, Massachusetts 02115, USA.

Molecular diagnosis of hereditary inclusion body myopathy by linkage analysis and identification of a novel splice site mutation in GNE.

BMC Med Genet. 2011 Jun 28;12(1):87. [Epub ahead of print].

Boyden SE, Duncan AR, Estrella EA, Lidov HG, Mahoney LJ, Katz JS, Kunkel LM, Kang PB.

Program in Genomics, Division of Genetics, Boston Children's Hospital, 300 Longwood Avenue, Boston, MA 02115, USA. peter.kang@childrens.harvard.edu.

A clinician's guide to X-linked hypophosphatemia.

J Bone Miner Res. 2011 Jul;26(7):1381-8. doi: 10.1002/jbmr.340. Epub 2011 May 2.

Carpenter TO, Imel EA, Holm IA, Jan de Beur SM, Insogna KL.

Departments of Pediatrics (Endocrinology) and Orthopaedics and Rehabilitation, Yale University School of Medicine, New Haven, CT, USA. Thomas.carpenter@yale.edu.

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