Research

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2010

Ribosomal protein genes RPS10 and RPS26 are commonly mutated in Diamond-Blackfan anemia.

Am J Hum Genet. 2010 Feb 12;86(2):222-8. Epub 2010 Jan 28.

Doherty L, Sheen MR, Vlachos A, Choesmel V, O'Donohue MF, Clinton C, Schneider HE, Sieff CA, Newburger PE, Ball SE, Niewiadomska E, Matysiak M, Glader B, Arceci RJ, Farrar JE, Atsidaftos E, Lipton JM, Gleizes PE, Gazda HT.

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

The mouse retina as an angiogenesis model.

Invest Ophthalmol Vis Sci. 2010 Jun;51(6):2813-26.

Stahl A, Connor KM, Sapieha P, Chen J, Dennison RJ, Krah NM, Seaward MR, Willett KL, Aderman CM, Guerin KI, Hua J, Löfqvist C, Hellström A, Smith LE. 

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

PPARγ mediates a direct anti-angiogenic effect of ω3-PUFAs in proliferative retinopathy.

Circulation Research. 2010. Aug 20;107(4):495-500.

Stahl A, Sapieha P, Connor KM, SanGiovanni JP, Chen J, Aderman CM, Willett KL, Krah NM, Dennison RJ, Seaward MR, Guerin KI, Hua J, Smith LE.

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

Clinical genetic testing for patients with autism spectrum disorders.

Pediatr. 125: 727-735, 2010.  2010 Apr; Epub 2010 Mar 15.

Shen Y, Dies KA, Holm IA, Bridgemohan C, Sobeih MM, Caronna EB, Miller KJ, Frazier JA, Silverstein I, Picker J, Weissman L, Raffalli P, Jeste S, Demmer LA, Peters HK, Brewster SJ, Kowalczyk SJ, Rosen-Sheidley B, McGowan C, Duda AW 3rd, Lincoln SA, Lowe KR, Schonwald A, Robbins M, Hisama F, Wolff R, Becker R, Nasir R, Urion DK, Milunsky JM, Rappaport L, Gusella JF, Walsh CA, Wu BL, Miller DT; Autism Consortium Clinical Genetics/DNA Diagnostics Collaboration.

Autism Consortium, Boston, Massachusetts, USA.

Different molecular behavior of CD40 mutants causing hyper-IgM syndrome.

Blood2010;116:5867-74.

Lanzi G, Ferrari S, Vihinen M, Caraffi S, Kutukculer N, Schiaffonati L, Plebani A, Notarangelo LD, Fra AM, Giliani S.

A. Nocivelli Institute for Molecular Medicine and Pediatric Clinic, University of Brescia, Brescia, Italy.

Expansion of immunoglobulin-secreting cells and defects in B cell tolerance in Rag-dependent immunodeficiency.

J Exp Med 2010;207:1541-54.

Walter JE, Rucci F, Patrizi L, Recher M, Regenass S, Paganini T, Keszei M, Pessach I, Lang PA, Poliani PL, Giliani S, Al-Herz W, Cowan MJ, Puck JM, Bleesing J, Niehues T, Schuetz C, Malech H, DeRavin SS, Facchetti F, Gennery AR, Andersson E, Kamani NR, Sekiguchi J, Alenezi HM, Chinen J, Dbaibo G, ElGhazali G, Fontana A, Pasic S, Detre C, Terhorst C, Alt FW, Notarangelo LD.

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

An aqueous Hpermeation pathway in the voltage-gated proton channel, Hv1.

Nature Structural and Molecular Biology, 17, 869-875.

Ramsey, IS, Mokrab, Y, Carvacho, I, Sands, ZA, Sansom, MSP, Clapham, DE. 

Howard Hughes Medical Institute, Department of Cardiology and Manton Center for Orphan Disease, Boston Children's Hospital, Boston, Massachusetts, USA. isramsey@vcu.edu.

Clinical and immunological outcome of patients with cartilage hair hypoplasia after hematopoietic stem cell transplantation.

Blood. 2010 Apr 7. [Epub ahead of print]

Bordon V, Gennery AR, Slatter MA, Vandecruys E, Laureys G, Veys P, Qasim W, Friedrich W, Wulffraat NM, Scherer F, Cant AJ, Fischer A, Cavazzana-Calvo M, Bredius RG, Notarangelo LD, Mazzolari E, Neven B, Güngör T.
Pediatric Hematology, Oncology and Stem Cell Transplantation, Kliniek voor Kinderziekten C. Hooft, Ghent University Hospital, Ghent, Belgium.

TRP channel regulates EGFR signaling in hair morphogenesis and skin barrier formation.
Cell. 2010 Apr 16;141(2):331-43.

Cheng X, Jin J, Hu L, Shen D, Dong XP, Samie MA, Knoff J, Eisinger B, Liu ML, Huang SM, Caterina MJ, Dempsey P, Michael LE, Dlugosz AA, Andrews NC, Clapham DE, Xu H.
The Department of Molecular, Cellular, and Developmental Biology, the University of Michigan, 3089 Natural Science Building (Kraus), 830 North University, Ann Arbor, MI 48109, USA.

The apical complex couples cell fate and cell survival to cerebral cortical development.
Neuron. 2010 Apr 15;66(1):69-84.

Kim S, Lehtinen MK, Sessa A, Zappaterra MW, Cho SH, Gonzalez D, Boggan B, Austin CA, Wijnholds J, Gambello MJ, Malicki J, LaMantia AS, Broccoli V, Walsh CA.
Howard Hughes Medical Institute, Beth Israel Deaconess Medical Center, Division of Genetics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA.

Developmental and degenerative features in a complicated spastic paraplegia.
Ann Neurol. 2010 Apr;67(4):516-25.

Manzini MC, Rajab A, Maynard TM, Mochida GH, Tan WH, Nasir R, Hill RS, Gleason D, Al Saffar M, Partlow JN, Barry BJ, Vernon M, LaMantia AS, Walsh CA.
Department of Neurology, Howard Hughes Medical Institute, Beth Israel Deaconess Medical Center, Harvard Medical School, Boston, MA 02115, USA.

Distinct alpha- and beta-tubulin isotypes are required for the positioning, differentiation and survival of neurons: new support for the 'multi-tubulin' hypothesis.
Biosci Rep. 2010 Apr 15;30(5):319-30.

Tischfield MA, Engle EC.
Department of Neurology and Ophthalmology, Manton Center for Orphan Disease Research, Boston Children's Hospital, Harvard Medical School, MA, USA.

AID for Reprogramming.
Cell Res. 2010 Mar;20(3):253-5.

Agarwal S, Daley GQ
Division of Hematology/Oncology, The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA 02115, USA.

Telomere elongation in induced pluripotent stem cells from dyskeratosis congenita patients.
Nature. 2010 Mar 11;464(7286):292-6. Epub 2010 Feb 17.

Agarwal S, Loh YH, McLoughlin EM, Huang J, Park IH, Miller JD, Huo H, Okuka M, Dos Reis RM, Loewer S, Ng HH, Keefe DL, Goldman FD, Klingelhutz AJ, Liu L, Daley GQ
Division of Hematology/Oncology, The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA 02115, USA.

Human genetic disorders of axon guidance.
Cold Spring Harbor Perspect. Biol.. 2010 Mar;2(3):a001784.

Engle EC
Department of Neurology, FM Kirby Neurobiology Center, Program in Genomics, Boston Children's Hospital, Massachusetts 02115-5737, USA.

Human peripheral lymphoid tissues contain autoimmune regulator-expressing dendritic cells.
Am J Pathol. 2010 Mar;176(3):1104-12. Epub 2010 Jan 21

Poliani PL, Kisand K, Marrella V, Ravanini M, Notarangelo LD, Villa A, Peterson P, Facchetti F
Department of Pathology, University of Brescia, P.le Spedali Civili 1, 25123, Brescia, The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA 02115, USA.

Mutations in PKNP cause microcephaly, seizures, and defects in DNA repair.
Nat Genet. 2010 Mar;42(3):245-9.Epub 2010 Jan 31.

Shen J, Gilmore EC, Marshall CA, Haddadin M, Reynolds JJ, Eyaid W, Bodell A, Barry B, Gleason D, Allen K, Ganesh VS, Chang BS, Grix A, Hill RS, Topcu M, Caldecott KW, Barkovich AJ, Walsh CA.
Howard Hughes Medical Institute, Department of Neurology, Beth Israel Deaconess Medical Center and Program in Neuroscience, Harvard Medical School, The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA 02115, USA.

Ribosomal protein genes RPS10 and RPS26 are commonly mutated in Diamond-Blackfan anemia.
Am J Hum Genet. 2010 Feb 12;86(2):222-228. Epub 2010 Jan 28.

Doherty L, Sheen MR, Vlachos A, Choesmel V, O'Donohue MF, Clinton C, Schneider HE, Sieff CA, Newburger PE, Ball SE, Niewiadomska E, Matysiak M, Glader B, Arceci RJ, Farrar JE, Atsidaftos E, Lipton JM, Gleizes PE, Gazda HT.
Division of Genetics and Program in Genomics,, The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA 02115, USA.

Primary Immunodeficiencies.
J Allergy Clin Immunol. 2010 Feb;125(2 Suppl 2):S182-94. Epub 2009 Dec 29.

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

HOXA1 mutations are not a common cause of Möbius syndrome.
J AAPOS. 2010 Feb;14(1):78-80.

Rankin JK, Andrews C, Chan WM, Engle EC.
Department of Neurology, Boston Children's Hospital, Boston, Massachusetts, USA.

Homozygous DNA ligase IV R278H mutation in mice leads to leaky SCID and represents a model for human LIG4 syndrome.
Proc Natl Acad SCI USA. 2010 Feb 16;107(7):3024-9. Epub 2010 Feb 1

Rucci F, Notarangelo LD, Fazeli A, Patrizi L, Hickernell T, Paganini T, Coakley KM, Detre C, Keszei M, Walter JE, Feldman L, Cheng HL, Poliani PL, Wang JH, Balter BB, Recher M, Andersson EM, Zha S, Giliani S, Terhorst C, Alt FW, Yan CT.
Division of Immunology and Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA 02115, USA.

Defect in regulatory T cells in patients with Omenn syndrome.
J Allergy Clin Immunol. 2010 Jan; 125(1)209-16.

Cassani B, Poliani PL, Moratto D, Sobacchi C, Marrella V, Imperatori L, Vairo D, Plebani A, Giliani S, Vezzoni P, Facchetti F, Porta F, Notarangelo LD, Villa A, Badolato R
Fondazione Humanitas per la Ricerca, Rozzano (MI), Italy, The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA 02115, USA.

Stem cells: roadmap to the clinic.
J Clin Invest. 2010 Jan; 120(1):8-10. doi: 10.1172/JCI41801

Daley GQ
Stem Cell Transplantation Program, Division of Pediatric Hematology/Oncology, Howard Hughes Medical Institute, The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA 02115, USA.

Autologous blood cell therapies from pluripotent stem cells.
Blood Rev. 2010 Jan;24(1):27-37.Epub 2009 Nov 11.

Lengerke C, Daley GQ
Division of Hematology and Oncology, University of Tuebingen Medical Center II, 72076 Tuebingen, Germany, Howard Hughes Medical Institute, Stem Cell Transplantation Program, Division of Pediatric Hematology/Oncology, The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA 02115, USA.

CHN1 mutations are not a common cause of sporadic Duane's retraction syndrome.
Am J Med Genet. 2010 Jan;152A(1):215-7.

Miyake N, Andrews C, Fan W, He W, Chan WM, Engle EC.
Department of Neurology, The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA 02115, USA.

Human TUBB3 mutations perturb microtubule dynamics, kinesin interactions, and axon guidance.
Cell. 2010 Jan 8;140(1):74-87.

Tischfield MA, Baris HN, Wu C, Rudolph G, Van Maldergem L, He W, Chan WM, Andrews C, Demer JL, Robertson RL, Mackey DA, Ruddle JB, Bird TD, Gottlob I, Pieh C, Traboulsi EI, Pomeroy SL, Hunter DG, Soul JS, Newlin A, Sabol LJ, Doherty EJ, de Uzcátegui CE, de Uzcátegui N, Collins ML, Sener EC, Wabbels B, Hellebrand H, Meitinger T, de Berardinis T, Magli A, Schiavi C, Pastore-Trossello M, Koc F, Wong AM, Levin AV, Geraghty MT, Descartes M, Flaherty M, Jamieson RV, Møller HU, Meuthen I, Callen DF, Kerwin J, Lindsay S, Meindl A, Gupta ML Jr, Pellman D, Engle EC.
Department of Neurology, The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA 02115, USA.

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.

The ribosomal basis of Diamond-Blackfan Anemia: mutation and database update.

Hum Mutat. 2010 Dec;31(12):1269-79.

Boria I, Garelli E, Gazda HT, Aspesi A, Quarello P, Pavesi E, Ferrante D, Meerpohl JJ, Kartal M, Da Costa L, Proust A, Leblanc T, Simansour M, Dahl N, Fröjmark AS, Pospisilova D, Cmejla R, Beggs AH, Sheen MR, Landowski M, Buros CM, Clinton CM, Dobson LJ, Vlachos A, Atsidaftos E, Lipton JM, Ellis SR, Ramenghi U, Dianzani I.

Department of Medical Sciences, and IRCAD Università del Piemonte Orientale A. Avogadro, Alessandria, Novara, Vercelli, Italy.

Current progress in the mammalian TRP ion channel family.

Pharmacol Rev. 2010 Sep;62(3):381-404.

Wu LJ, Sweet TB, Clapham DE.

International Union of Basic and Clinical Pharmacology. LXXVI.

Molecular basis of the first cell fate determination in mouse embryogenesis.

Cell Res. 2010 Sep;20(9):982-93. Epub 2010 Jul 13.

Chen L, Wang D, Wu Z, Ma L, Daley GQ.

Ministry of Education Key Laboratory of Bioactive Materials, College of Life Sciences, Nankai University, 94 Weijin Road, Tianjin 300071, China. lingyichen@nankai.edu.cn.

Comprehensive methylome map of lineage commitment from haematopoietic progenitors.

Nature. 2010 Sep 16;467(7313):338-42. Epub 2010 Aug 15.

Ji H, Ehrlich LI, Seita J, Murakami P, Doi A, Lindau P, Lee H, Aryee MJ, Irizarry RA, Kim K, Rossi DJ, Inlay MA, Serwold T, Karsunky H, Ho L, Daley GQ, Weissman IL, Feinberg AP.

Center for Epigenetics and Department of Medicine, Johns Hopkins University School of Medicine, 570 Rangos, 725 N. Wolfe St., Baltimore, Maryland 21205, USA.

Epigenetic memory in induced pluripotent stem cells.

Nature. 2010 Sep 16;467(7313):285-90.

Kim K, Doi A, Wen B, Ng K, Zhao R, Cahan P, Kim J, Aryee MJ, Ji H, Ehrlich LI, Yabuuchi A, Takeuchi A, Cunniff KC, Hongguang H, McKinney-Freeman S, Naveiras O,

Yoon TJ, Irizarry RA, Jung N, Seita J, Hanna J, Murakami P, Jaenisch R, Weissleder R, Orkin SH, Weissman IL, Feinberg AP, Daley GQ.

Stem Cell Transplantation Program, Division of Pediatric Hematology/Oncology, Manton Center for Orphan Disease Research, Howard Hughes Medical Institute, Boston Children's Hospital and Dana Farber Cancer Institute, Boston, Massachusetts 02115, USA.

Large intergenic non-coding RNA-RoR modulates reprogramming of human induced pluripotent stem cells.

Nat Genet. 2010 Dec;42(12):1113-7. Epub 2010 Nov 7.

Loewer S, Cabili MN, Guttman M, Loh YH, Thomas K, Park IH, Garber M, Curran M, Onder T, Agarwal S, Manos PD, Datta S, Lander ES, Schlaeger TM, Daley GQ, Rinn JL.

Stem Cell Transplantation Program, Division of Pediatric Hematology and Oncology, Manton Center for Orphan Disease Research, Boston Children's Hospital and Dana Farber Cancer Institute, Boston, Massachusetts, USA.

Dynamic instability of genomic methylation patterns in pluripotent stem cells.

Epigenetics Chromatin. 2010 Sep 24;3(1):17.

Ooi SK, Wolf D, Hartung O, Agarwal S, Daley GQ, Goff SP, Bestor TH.

Department of Genetics and Development, Columbia University, New York, USA. thb12@columbia.edu.

Induced pluripotent stem cells: A novel frontier in the study of human primary immunodeficiencies.

J Allergy Clin Immunol. 2010 Dec 23. [Epub ahead of print]

Pessach IM, Ordovas-Montanes J, Zhang SY, Casanova JL, Giliani S, Gennery AR, Al-Herz W, Manos PD, Schlaeger TM, Park IH, Rucci F, Agarwal S, Mostoslavsky G, Daley GQ, Notarangelo LD

Division of Immunology, Boston Children's Hospital, Harvard Medical School, Boston, Mass; Talpiot Medical Leadership Program, Safra Children's Hospital, Sheba Medical Center, Tel-Hashomer, Israel.

Highly efficient reprogramming to pluripotency and directed differentiation of human cells with synthetic modified mRNA.

Cell Stem Cell. 2010 Nov 5;7(5):618-30. Epub 2010 Sep 30.

Warren L, Manos PD, Ahfeldt T, Loh YH, Li H, Lau F, Ebina W, Mandal PK, Smith ZD, Meissner A, Daley GQ, Brack AS, Collins JJ, Cowan C, Schlaeger TM, Rossi DJ.

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

Magnetic resonance imaging evidence of an asymmetrical endophenotype in congenital fibrosis of the extraocular muscles type 3 resulting from TUBB3 mutations.

IOVS. 2010 Sep;51(9):4600-11. Epub 2010 Apr 14.

Demer JL, Clark RA, Tischfield MA, Engle EC.

Jules Stein Eye Institute, Department of Ophthalmology, University of California, Los Angeles, CA 90095-7002, USA. jld@ucla.edu.

Allelic diversity in human developmental neurogenetics: insights into biology and disease.

Neuron. 2010 Oct 21;68(2):245-53.

Walsh CA, Engle EC.

Division of Genetics, Department of Neurology, Howard Hughes Medical Institute, Children's Hospital, Boston, MA 02115, USA. christopher.walsh@childrens.harvard.edu.

KIF21A mutations in two Chinese families with congenital fibrosis of the extraocular muscles (CFEOM).

Mol Vis. 2010 Oct 13;16:2062-70.

Yang X, Yamada K, Katz B, Guan H, Wang L, Andrews C, Zhao G, Engle EC, Chen H, Tong Z, Kong J, Hu C, Kong Q, Fan G, Wang Z, Ning M, Zhang S, Xu J, Zhang K.

Department of Ophthalmology, Medical College of Qingdao University, the Affiliated Hospital of Medical College Qingdao University, Qingdao, Shandong Province, China. yangxian_70@yahoo.com.cn.

Clinical spectrum, pathophysiology and treatment of the Wiskott-Aldrich syndrome.

Curr Opin Hematol.2010 Nov 11. [Epub ahead of print]

Albert MH, Notarangelo LD, Ochs HD.

Department of Pediatric Hematology/Oncology, Dr von Haunersches Kinderspital der Ludwig-Maximilians-Universität, Munich, Germany bThe Manton Center for Orphan Disease Research and the Division of Immunology, Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA cDepartment of Pediatrics, University of Washington, and Seattle Children's Research Institute, Center for Immunity and Immunotherapy, Seattle, Washington, USA.

SOBP is mutated in syndromic and nonsyndromic intellectual disability and is highly expressed in the brain limbic system.

Am J Hum Genet. 2010 Nov 12;87(5):694-700. Epub 2010 Oct 28.

Birk E, Har-Zahav A, Manzini CM, Pasmanik-Chor M, Kornreich L, Walsh CA, Noben-Trauth K, Albin A,     Simon AJ, Colleaux L, Morad Y, Rainshtein L, Tischfield DJ, Wang P, Magal N, Maya I, Shoshani N, Rechavi G, Gothelf D, Maydan G, Shohat M, Basel-Vanagaite L.

Tel Aviv University, Israel.

Candidate gene sequencing of LHX2, HESX1, and SOX2 in a large schizencephaly cohort.

Am J Med Genet A. 2010 Nov;152A(11):2736-42.

Mellado C, Poduri A, Gleason D, Elhosary PC, Barry BJ, Partlow JN, Chang BS, Shaw GM, Barkovich AJ, Walsh CA.

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

A homozygous mutation in the tight-junction protein JAM3 causes hemorrhagic destruction of the brain, subependymal calcification, and congenital cataracts.

Am J Hum Genet. 2010 Dec 10;87(6):882-9. Epub 2010 Nov 25.

Mochida GH, Ganesh VS, Felie JM, Gleason D, Hill RS, Clapham KR, Rakiec D, Tan WH, Akawi N, Al- Saffar M, Partlow JN, Tinschert S, Barkovich AJ, Ali B, Al-Gazali L, Walsh CA.

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

Mutations in WDR62, encoding a centrosome-associated protein, cause microcephaly with simplified gyri and abnormal cortical architecture.

Nat Genet. 2010 Nov;42(11):1015-20.

Yu TW, Mochida GH, Tischfield DJ, Sgaier SK, Flores-Sarnat L, Sergi CM, Topçu M, McDonald MT, BarryBJ, Felie JM, Sunu C, Dobyns WB, Folkerth RD, Barkovich AJ, Walsh CA.

Division of Genetics, Department of Medicine, Boston Children's Hospital, Boston, Massachusetts, USA.

Cognitive and behavioral characterization of 16p11.2 deletion syndrome.

J Dev Behav Pediatr. 2010 Oct;31(8):649-57.

Hanson E, Nasir RH, Fong A, Lian A, Hundley R, Shen Y, Wu BL, Holm IA, Miller DT; 16p11.2 Study Group Clinicians.

Program in Genomics and Division of Genetics, Boston Children's Hospital and Harvard Medical School, 300 Longwood Avenue, Boston, Massachusetts 02115, USA

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