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May 2010 - August 2010


The syndrome of perisylvian polymicrogyria with congenital arthrogryposis.

Brain Dev. 2010 Aug;32(7):550-5. Epub 2009 Sep 13.

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 02215, USA.


Deletions of NRXN1 (neurexin-1) predispose to a wide spectrum of developmental disorders.

Am J Med Gen B Neuropsychiatr Genet. 2010 Jun 5;153B(4):937-47.

Ching MS, Shen Y, Tan WH, Jeste SS, Morrow EM, Chen X, Mukaddes NM, Yoo SY, Hanson E, Hundley R, Austin C, Becker RE, Berry GT, Driscoll K, Engle EC, Friedman S, Gusella JF, Hisama FM, Irons MB, Lafiosca T, LeClair E, Miller DT, Neessen M, Picker JD, Rappaport L, Rooney CM, Sarco DP, Stoler JM, Walsh CA, Wolff RR, Zhang T, Nasir RH, Wu BL; Boston Children's Hospital Genotype Phenotype Study Group.
Division of Developmental Medicine, Boston Children's Hospital, Boston, Massachusetts 02115, USA.


Targeted cytosolic delivery of cell-impermeable compounds by nanoparticle-mediated, light-triggered endosome disruption.

Nano Letters, 2010 Jun 9;10(6):2211-9.

Febvay, S, Marini, DM, Belcher, AM, and Clapham, DE.

Department of Cardiology, Howard Hughes Medical Institute, Manton Center for Orphan Disease, Boston Children's Hospital, Boston, Massachusetts 02115, USA.


Clump passaging and expansion of human embryonic and induced pluripotent stem cells on mouse embryonic fibroblast feeder cells.

Curr Protoc Stem Cell Biol. 2010 Aug;Chapter 1:Unit 1C.10.

Hartung O, Huo H, Daley GQ, Schlaeger TM.

Stem Cell Program, Boston Children's Hospital, Boston, Massachusetts, USA.


Musashi-2 regulates normal hematopoiesis and promotes aggressive myeloid leukemia.

Nat Med. 2010 Aug;16(8):903-8. Epub 2010 Jul 8.

Kharas MG, Lengner CJ, Al-Shahrour F, Bullinger L, Ball B, Zaidi S, Morgan K, Tam W, Paktinat M, Okabe R, Gozo M, Einhorn W, Lane SW, Scholl C, Fröhling S, Fleming M, Ebert BL, Gilliland DG, Jaenisch R, Daley GQ.

Department of Medicine, Brigham and Women's Hospital, Boston, MA, USA. mkharas@partners.org.


Reprogramming of T cells from human peripheral blood.

Cell Stem Cell. 2010 Jul 2;7(1):15-9.

Loh YH, Hartung O, Li H, Guo C, Sahalie JM, Manos PD, Urbach A, Heffner GC, Grskovic M, Vigneault F, Lensch MW, Park IH, Agarwal S, Church GM, Collins JJ, Irion S, Daley GQ.

Division of Pediatric Hematology Oncology, Department of Biological Chemistry and Molecular Pharmacology, Boston Children's Hospital and Dana-Farber Cancer Institute, Harvard Medical School, Boston, MA 02115, USA.


All-trans retinoic acid directs urothelial specification of murine embryonic stem cells via GATA4/6 signaling mechanisms.

PLoSOne. 2010 Jul 13;5(7):e11513.

Mauney JR, Ramachandran A, Yu RN, Daley GQ, Adam RM, Estrada CR.

Urological Diseases Research Center, Boston Children's Hospital, Boston, Massachusetts, USA.


Lin28a transgenic mice manifest size and puberty phenotypes identified in human genetic association studies.

Nat Genet. 2010 Jul;42(7):626-30. Epub 2010 May 30.

Zhu H, Shah S, Shyh-Chang N, Shinoda G, Einhorn WS, Viswanathan SR, Takeuchi A, Grasemann C, Rinn JL, Lopez MF, Hirschhorn JN, Palmert MR, Daley GQ. 

Stem Cell Transplantation Program, Division of Pediatric Hematology/Oncology, Boston Children's Hospital and Dana Farber Cancer Institute, Department of Pathology, Harvard Medical School, Boston, Massachusetts, USA.


Cdk5rap2 regulates centrosome function and chromosome segregation in neuronal progenitors.

Development. 2010 Jun;137(11):1907-17.

Lizarraga SB, Margossian SP, Harris MH, Campagna DR, Han AP, Blevins S, Mudbhary R, Barker JE, Walsh CA, Fleming MD.

Division of Genetics and the Manton Center for Orphan Disease Research, Boston Children's Hospital, Howard Hughes Medical Institute, Beth Israel-Deaconess Medical Center, and Department of Pediatrics, Harvard Medical School, Boston, MA 02115, USA.


Targeted cytosolic delivery of cell-impermeable compounds by nanoparticle-mediated, light-triggered endosome disruption.
Nano Lett. 2010 Jun 9;10(6):2211-9. Epub 2009 Nov 26.

Febvay S, Marini DM, Belcher AM, Clapham DE.
Department of Cardiology, Howard Hughes Medical Institute, Manton Center for Orphan Disease, Boston Children's Hospital, Boston, Massachusetts 02115, USA.


Mutations and Polymorphisms of the sckeletal muscle α-Actin gene (ACTA1).
Human Mutation. 2010 Jun;30(9).

Laing NG, Dye DE, Wallgren-Pettersson C, Richard G, Monnier N, Lillis S, Winder TL, Lochmüller H, Graziano C, Mitrani-Rosenbaum S, Twomey D, Sparrow JC, Beggs AH, Nowak KJ.
Centre for Medical Research, University of Western Australia, Western Australian Institute for Medical Research, QEII Medical Centre, Western Australia, Australia.


Cdk5rap2 regulates centrosome function and chromosome segregation in neuronal progenitors.
Development. 2010 Jun;137(11):1907-17.

Lizarraga SB, Margossian SP, Harris MH, Campagna DR, Han AP, Blevins S, Mudbhary R, Barker JE, Walsh CA, Fleming MD.
Division of Genetics and the Manton Center for Orphan Disease Research, Boston Children's Hospital, Howard Hughes Medical Institute, Beth Israel-Deaconess Medical Center, and Department of Pediatrics, Harvard Medical School, Boston, MA 02115, USA.


Functional muscle analysis of the Tcap knockout mouse.
Hum Mol Genet. 2010 Jun 1;19(11):2268-83. Epub 2010 Mar 16.

Markert CD, Meaney MP, Voelker KA, Grange RW, Dalley HW, Cann JK, Ahmed M, Bishwokarma B, Walker SJ, Yu SX, Brown M, Lawlor MW, Beggs AH, Childers MK.
Department of Neurology, Wake Forest University, Winston-Salem, NC 27101, USA.


Quantification of galactose-1-phosphate uridyltransferase enzyme activity by liquid chromatography-tandem mass spectrometry.
Clin Chem. 2010 May;56(5):772-80. Epub 2010 Mar 26.

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 02115, USA.


Altered myofilament function depresses force generation in Patients with nebulin-based nemaline myopathy (nem2).
J Struct Biol. 2010 May;170(2):334-43. Epub 2009 Nov 26.

Ottenheijm CA, Hooijman P, Dechene ET, Stienen GJ, Beggs AH, Granzier H.
Laboratory for Physiology, Institute for Cardiovascular Research, VU University Medical Center, Amsterdam 1081 BT, The Netherlands; Department of Physiology, University of Arizona, Tucson, AZ 85724, USA.


Hematopoietic cell transplantation for Wiskott-Aldrich syndrome: advances in biology and future directions for treatment.
Immunol Allergy Clin North Am. 2010 May;30(2):179-94.

Pai SY, Notarangelo LD.
Division of Hematology-Oncology, Boston Children's Hospital, Karp Family Research Laboratories, 8th Floor, Room 8214, 1 Blackfan Circle, Boston, MA 02115, USA.


Indications for hemopoietic stem cell transplanation.
Immunol Allergy Clin North Am. 2010 May;30(2):261-2.

Roifman CM, Fischer A, Notarangelo LD, de la Morena MT, Seger RA.
Division of Immunology & Allergy, The Canadian Centre for Primary Immunodeficiency, The Jeffrey Modell Research Laboratory for the Diagnosis of Primary Immunodeficiency, The Hospital for Sick Children, University of Toronto, 555 University Avenue, Toronto, ON M5G 1X8, Canada.


Differential modeling of fragile X syndrome by human embryonic stem cells and induced pluripotent stem cells.
Cell Stem Cell. 2010 May 7;6(5):407-11.

Urbach A, Bar-Nur O, Daley GQ, Benvenisty N.
Manton Center for Orphan Disease Research, Howard Hughes Medical Institute, Children's Hospital, Boston, MA, USA.


MTM1 mutation associated with X-linked myotubular myopathy in Labrador Retrievers.

Beggs AH, Böhm J, Snead E, Kozlowski M, Maurer M, Minor K, Childers MK, Taylor SM, Hitte C, Mickelson JR, Guo LT, Mizisin AP, Buj-Bello A, Tiret L, Laporte J, Shelton GD.

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


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