Publications by authors named "Julian Martinez-Agosto"

65Publications

Histone H3.3 beyond cancer: Germline mutations in cause a previously unidentified neurodegenerative disorder in 46 patients.

Authors:
Laura Bryant Dong Li Samuel G Cox Dylan Marchione Evan F Joiner Khadija Wilson Kevin Janssen Pearl Lee Michael E March Divya Nair Elliott Sherr Brieana Fregeau Klaas J Wierenga Alexandrea Wadley Grazia M S Mancini Nina Powell-Hamilton Jiddeke van de Kamp Theresa Grebe John Dean Alison Ross Heather P Crawford Zoe Powis Megan T Cho Marcia C Willing Linda Manwaring Rachel Schot Caroline Nava Alexandra Afenjar Davor Lessel Matias Wagner Thomas Klopstock Juliane Winkelmann Claudia B Catarino Kyle Retterer Jane L Schuette Jeffrey W Innis Amy Pizzino Sabine Lüttgen Jonas Denecke Tim M Strom Kristin G Monaghan Zuo-Fei Yuan Holly Dubbs Renee Bend Jennifer A Lee Michael J Lyons Julia Hoefele Roman Günthner Heiko Reutter Boris Keren Kelly Radtke Omar Sherbini Cameron Mrokse Katherine L Helbig Sylvie Odent Benjamin Cogne Sandra Mercier Stephane Bezieau Thomas Besnard Sebastien Kury Richard Redon Karit Reinson Monica H Wojcik Katrin Õunap Pilvi Ilves A Micheil Innes Kristin D Kernohan Gregory Costain M Stephen Meyn David Chitayat Elaine Zackai Anna Lehman Hilary Kitson Martin G Martin Julian A Martinez-Agosto Stan F Nelson Christina G S Palmer Jeanette C Papp Neil H Parker Janet S Sinsheimer Eric Vilain Jijun Wan Amanda J Yoon Allison Zheng Elise Brimble Giovanni Battista Ferrero Francesca Clementina Radio Diana Carli Sabina Barresi Alfredo Brusco Marco Tartaglia Jennifer Muncy Thomas Luis Umana Marjan M Weiss Garrett Gotway K E Stuurman Michelle L Thompson Kirsty McWalter Constance T R M Stumpel Servi J C Stevens Alexander P A Stegmann Kristian Tveten Arve Vøllo Trine Prescott Christina Fagerberg Lone Walentin Laulund Martin J Larsen Melissa Byler Robert Roger Lebel Anna C Hurst Joy Dean Samantha A Schrier Vergano Jennifer Norman Saadet Mercimek-Andrews Juanita Neira Margot I Van Allen Nicola Longo Elizabeth Sellars Raymond J Louie Sara S Cathey Elly Brokamp Delphine Heron Molly Snyder Adeline Vanderver Celeste Simon Xavier de la Cruz Natália Padilla J Gage Crump Wendy Chung Benjamin Garcia Hakon H Hakonarson Elizabeth J Bhoj

Sci Adv 2020 Dec 2;6(49). Epub 2020 Dec 2.

Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.

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http://dx.doi.org/10.1126/sciadv.abc9207DOI Listing
December 2020

KMT2B-related disorders: expansion of the phenotypic spectrum and long-term efficacy of deep brain stimulation.

Authors:
Laura Cif Diane Demailly Jean-Pierre Lin Katy E Barwick Mario Sa Lucia Abela Sony Malhotra Wui K Chong Dora Steel Alba Sanchis-Juan Adeline Ngoh Natalie Trump Esther Meyer Xavier Vasques Julia Rankin Meredith W Allain Carolyn D Applegate Sanaz Attaripour Isfahani Julien Baleine Bettina Balint Jennifer A Bassetti Emma L Baple Kailash P Bhatia Catherine Blanchet Lydie Burglen Gilles Cambonie Emilie Chan Seng Sandra Chantot Bastaraud Fabienne Cyprien Christine Coubes Vincent d'Hardemare Asif Doja Nathalie Dorison Diane Doummar Marisela E Dy-Hollins Ellyn Farrelly David R Fitzpatrick Conor Fearon Elizabeth L Fieg Brent L Fogel Eva B Forman Rachel G Fox William A Gahl Serena Galosi Victoria Gonzalez Tracey D Graves Allison Gregory Mark Hallett Harutomo Hasegawa Susan J Hayflick Ada Hamosh Marie Hully Sandra Jansen Suh Young Jeong Joel B Krier Sidney Krystal Kishore R Kumar Chloé Laurencin Hane Lee Gaetan Lesca Laurence Lion François Timothy Lynch Neil Mahant Julian A Martinez-Agosto Christophe Milesi Kelly A Mills Michel Mondain Hugo Morales-Briceno John R Ostergaard Swasti Pal Juan C Pallais Frédérique Pavillard Pierre-Francois Perrigault Andrea K Petersen Gustavo Polo Gaetan Poulen Tuula Rinne Thomas Roujeau Caleb Rogers Agathe Roubertie Michelle Sahagian Elise Schaefer Laila Selim Richard Selway Nutan Sharma Rebecca Signer Ariane G Soldatos David A Stevenson Fiona Stewart Michel Tchan Ishwar C Verma Bert B A de Vries Jenny L Wilson Derek A Wong Raghda Zaitoun Dolly Zhen Anna Znaczko Russell C Dale Claudio M de Gusmão Jennifer Friedman Victor S C Fung Mary D King Shekeeb S Mohammad Luis Rohena Jeff L Waugh Camilo Toro F Lucy Raymond Maya Topf Philippe Coubes Kathleen M Gorman Manju A Kurian

Brain 2020 Nov 5. Epub 2020 Nov 5.

Molecular Neurosciences, Developmental Neurosciences, UCL Great Ormond Street Institute of Child Health, London, UK.

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http://dx.doi.org/10.1093/brain/awaa304DOI Listing
November 2020

De Novo SOX6 Variants Cause a Neurodevelopmental Syndrome Associated with ADHD, Craniosynostosis, and Osteochondromas.

Am J Hum Genet 2020 06 21;106(6):830-845. Epub 2020 May 21.

Centre Hospitalier Universitaire Nantes, Service de Génétique Médicale, 44000 Nantes, France; Centre Hospitalier Universitaire Toulouse, Service de Génétique Médicale, 31000 Toulouse, France. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2020.04.015DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7273536PMC
June 2020

Myopathy associated with homozygous PYROXD1 pathogenic variants detected by genome sequencing.

Neuropathology 2020 Jun 9;40(3):302-307. Epub 2020 Feb 9.

Department of Pediatrics, University of California Los Angeles, Los Angeles, California, USA.

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http://dx.doi.org/10.1111/neup.12641DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7317439PMC
June 2020

A case report of a novel germline GNAS mutation in sonic hedgehog activated medulloblastoma.

Pediatr Blood Cancer 2020 03 2;67(3):e28103. Epub 2019 Dec 2.

Division of Hematology, Oncology and Blood and Marrow Transplantation, Children's Hospital of, Los Angeles, Los Angeles, California.

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http://dx.doi.org/10.1002/pbc.28103DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7307637PMC
March 2020

De novo and inherited variants in ZNF292 underlie a neurodevelopmental disorder with features of autism spectrum disorder.

Genet Med 2020 03 14;22(3):538-546. Epub 2019 Nov 14.

Division of Genetic Medicine, Department of Pediatrics, University of Washington School of Medicine, Seattle, WA, USA.

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http://dx.doi.org/10.1038/s41436-019-0693-9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7060121PMC
March 2020

Mutations in the sonic hedgehog pathway cause macrocephaly-associated conditions due to crosstalk to the PI3K/AKT/mTOR pathway.

Am J Med Genet A 2019 12 22;179(12):2517-2531. Epub 2019 Oct 22.

Department of Human Genetics, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, California.

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http://dx.doi.org/10.1002/ajmg.a.61368DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7346528PMC
December 2019

Maternal Uniparental Disomy 14 (UPD14) Identified by Clinical Exome Sequencing in an Adolescent with Diverticulosis.

ACG Case Rep J 2019 Mar 29;6(3):1-3. Epub 2019 Mar 29.

Division of Pediatric Gastroenterology, Department of Pediatrics, University of California, Los Angeles, Los Angeles, CA.

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http://dx.doi.org/10.14309/crj.0000000000000021DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6658016PMC
March 2019

Hotspot Mutations in DICER1 Causing GLOW Syndrome-Associated Macrocephaly Modulation of Specific microRNA Populations Result in the Activation of PI3K/ATK/mTOR Signaling.

Microrna 2020 ;9(1):70-80

Department of Human Genetics, David Geffen School of Medicine, University of California, Los Angeles, California, United States.

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http://dx.doi.org/10.2174/2211536608666190624114424DOI Listing
January 2020

Clinical application of next-generation sequencing to the practice of neurology.

Lancet Neurol 2019 05;18(5):492-503

Program in Neurogenetics, Department of Neurology, David Geffen School of Medicine, University of California, Los Angeles, CA, USA; Department of Human Genetics, David Geffen School of Medicine, University of California, Los Angeles, CA, USA; Clinical Neurogenomics Research Center, Department of Neurology, David Geffen School of Medicine, University of California, Los Angeles, CA, USA. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S14744422193003
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http://dx.doi.org/10.1016/S1474-4422(19)30033-XDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7055532PMC
May 2019

Bi-allelic TMEM94 Truncating Variants Are Associated with Neurodevelopmental Delay, Congenital Heart Defects, and Distinct Facial Dysmorphism.

Am J Hum Genet 2018 12;103(6):948-967

Section of Human Biochemical Genetics, Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA; NIH Undiagnosed Diseases Program, NHGRI and the Common Fund, National Institutes of Health, Bethesda, MD 20892, USA; Office of the Clinical Director, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2018.11.001DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6288279PMC
December 2018

Mutations in STAG2 cause an X-linked cohesinopathy associated with undergrowth, developmental delay, and dysmorphia: Expanding the phenotype in males.

Mol Genet Genomic Med 2019 02 16;7(2):e00501. Epub 2018 Nov 16.

Department of Human Genetics, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, California.

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http://doi.wiley.com/10.1002/mgg3.501
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http://dx.doi.org/10.1002/mgg3.501DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6393687PMC
February 2019

37th Annual David W. Smith Workshop on Malformations and Morphogenesis: Abstracts of the 2016 Annual Meeting.

Am J Med Genet A 2017 08 24;173(8):2007-2073. Epub 2017 May 24.

Department of Pediatrics, University of Utah School of Medicine, Salt Lake City, Utah.

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http://doi.wiley.com/10.1002/ajmg.a.38229
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http://dx.doi.org/10.1002/ajmg.a.38229DOI Listing
August 2017

The TEAD family transcription factor Scalloped regulates blood progenitor maintenance and proliferation in Drosophila through PDGF/VEGFR receptor (Pvr) signaling.

Dev Biol 2017 05 18;425(1):21-32. Epub 2017 Mar 18.

Department of Human Genetics, David Geffen School of Medicine, University of California Los Angeles, Los Angeles, CA 90095, USA; Molecular Biology Institute, Jonsson Comprehensive Cancer Center, UCLA Broad Stem Cell Center, Mattel Children's Hospital UCLA, USA. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S00121606163036
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http://dx.doi.org/10.1016/j.ydbio.2017.03.016DOI Listing
May 2017

Novel association of familial testicular germ cell tumor and autosomal dominant polycystic kidney disease with PKD1 mutation.

Pediatr Blood Cancer 2017 01 31;64(1):100-102. Epub 2016 Aug 31.

Department of Pediatrics, Mattel Children's Hospital at UCLA, David Geffen School of Medicine, University of California, Los Angeles, California.

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http://dx.doi.org/10.1002/pbc.26197DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5937546PMC
January 2017

Mutations in TFAM, encoding mitochondrial transcription factor A, cause neonatal liver failure associated with mtDNA depletion.

Mol Genet Metab 2016 09 4;119(1-2):91-9. Epub 2016 Jul 4.

Division of Metabolic Disorders, CHOC Children's, Orange, CA 92868, USA; Department of Pediatrics, University of California Irvine, Orange, CA 92868, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ymgme.2016.07.001DOI Listing
September 2016

Truncating mutations in APP cause a distinct neurological phenotype.

Ann Neurol 2016 Sep 4;80(3):456-60. Epub 2016 Aug 4.

Department of Human Genetics, David Geffen School of Medicine at University of California, Los Angeles, Los Angeles, California.

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http://dx.doi.org/10.1002/ana.24727DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7034636PMC
September 2016

Kicking it up a Notch for the best in show: Scalloped leads Yorkie into the haematopoietic arena.

Fly (Austin) 2014 ;8(4):206-17

a Department of Human Genetics ; David Geffen School of Medicine; University of California Los Angeles ; Los Angeles , CA USA.

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http://dx.doi.org/10.1080/19336934.2015.1055427DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4594362PMC
March 2016

Insulin- and warts-dependent regulation of tracheal plasticity modulates systemic larval growth during hypoxia in Drosophila melanogaster.

PLoS One 2014 26;9(12):e115297. Epub 2014 Dec 26.

Department of Human Genetics, David Geffen School of Medicine, University of California Los Angeles, Los Angeles, California, United States of America; Department of Pediatrics, David Geffen School of Medicine, University of California Los Angeles, Los Angeles, California, United States of America; Molecular Biology Institute, University of California Los Angeles, Los Angeles, California, United States of America; Jonsson Comprehensive Cancer Center, University of California Los Angeles, Los Angeles, California, United States of America.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0115297PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4277339PMC
August 2015

Yorkie and Scalloped signaling regulates Notch-dependent lineage specification during Drosophila hematopoiesis.

Curr Biol 2014 Nov 30;24(22):2665-72. Epub 2014 Oct 30.

Molecular Biology Interdepartmental Ph.D. Program, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, CA 90095, USA; Department of Human Genetics, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, CA 90095, USA; Molecular Biology Institute, Jonsson Comprehensive Cancer Center, UCLA Broad Stem Cell Center, and Mattel Children's Hospital UCLA, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, CA 90095, USA. Electronic address:

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http://dx.doi.org/10.1016/j.cub.2014.09.081DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4256154PMC
November 2014

Novel liver findings in ornithine transcarbamylase deficiency due to Xp11.4-p21.1 microdeletion.

Gene 2015 Feb 27;556(2):249-53. Epub 2014 Nov 27.

Department of Pathology and Laboratory Medicine, David Geffen School of Medicine at UCLA, UCLA Clinical Genomics Center, Los Angeles, California. Electronic address:

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http://dx.doi.org/10.1016/j.gene.2014.11.057DOI Listing
February 2015

Clinical exome sequencing for genetic identification of rare Mendelian disorders.

JAMA 2014 Nov;312(18):1880-7

Department of Pathology and Laboratory Medicine, David Geffen School of Medicine, University of California, Los Angeles2Clinical Genomics Center, David Geffen School of Medicine, University of California, Los Angeles6Department of Human Genetics, David Ge.

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http://dx.doi.org/10.1001/jama.2014.14604DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4278636PMC
November 2014

Hemifacial microsomia in cat-eye syndrome: 22q11.1-q11.21 as candidate loci for facial symmetry.

Am J Med Genet A 2013 Aug 21;161A(8):1985-91. Epub 2013 Jun 21.

Department of Pathology and Laboratory Medicine, David Geffen School of Medicine, University of California, Los Angeles, CA, USA.

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http://dx.doi.org/10.1002/ajmg.a.35895DOI Listing
August 2013

Macrocephaly as a clinical indicator of genetic subtypes in autism.

Autism Res 2013 Feb 29;6(1):51-6. Epub 2013 Jan 29.

Department of Human Genetics, David Geffen School of Medicine at UCLA, Los Angeles, CA, USA.

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http://doi.wiley.com/10.1002/aur.1266
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http://dx.doi.org/10.1002/aur.1266DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3581311PMC
February 2013

Support for calcium channel gene defects in autism spectrum disorders.

Mol Autism 2012 Dec 15;3(1):18. Epub 2012 Dec 15.

Department of Human Genetics, David Geffen School of Medicine, University of California at Los Angeles, Los Angeles, CA 90024-7088, USA.

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http://dx.doi.org/10.1186/2040-2392-3-18DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3558437PMC
December 2012

Whole exome sequencing of pediatric gastric adenocarcinoma reveals an atypical presentation of Li-Fraumeni syndrome.

Pediatr Blood Cancer 2013 Apr 26;60(4):570-4. Epub 2012 Sep 26.

Department of Pediatrics, Division of Hematology/Oncology, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, California 90095, USA.

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http://dx.doi.org/10.1002/pbc.24316DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4170733PMC
April 2013

Multifaceted roles of PTEN and TSC orchestrate growth and differentiation of Drosophila blood progenitors.

Development 2012 Oct 5;139(20):3752-63. Epub 2012 Sep 5.

Molecular Biology Institute, University of California, Los Angeles, CA 90095, USA.

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http://dx.doi.org/10.1242/dev.074203DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3445307PMC
October 2012

Phenotypic progression of skeletal anomalies in CLOVES syndrome.

Am J Med Genet A 2012 Jul 24;158A(7):1690-5. Epub 2012 May 24.

Department of Human Genetics, David Geffen School of Medicine at UCLA, Los Angeles, California 90095, USA.

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http://dx.doi.org/10.1002/ajmg.a.35383DOI Listing
July 2012

Stem cell niche dynamics: from homeostasis to carcinogenesis.

Stem Cells Int 2012 9;2012:367567. Epub 2012 Feb 9.

Computational and Systems Biology Interdepartmental Program, School of Medicine, University of California, Los Angeles, CA 90095, USA.

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http://dx.doi.org/10.1155/2012/367567DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3289927PMC
August 2012

Effects of mTOR Inhibitors on Components of the Salvador-Warts-Hippo Pathway.

Cells 2012 Oct 19;1(4):886-904. Epub 2012 Oct 19.

Division of Medical Genetics, Department of Pediatrics, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, CA 90095, USA.

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http://dx.doi.org/10.3390/cells1040886DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3901137PMC
October 2012

Interaction between differentiating cell- and niche-derived signals in hematopoietic progenitor maintenance.

Cell 2011 Dec;147(7):1589-600

Department of Molecular, Cell, and Developmental Biology, University of California Los Angeles, Los Angeles, CA 90095, USA.

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http://dx.doi.org/10.1016/j.cell.2011.11.041DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4403793PMC
December 2011

B-acute lymphoblastic leukemia and cystinuria in a patient with duplication 22q11.21 detected by chromosomal microarray analysis.

Pediatr Blood Cancer 2011 Mar 28;56(3):470-3. Epub 2010 Nov 28.

Division of Hematology-Oncology, David Geffen School of Medicine, University of California, Los Angeles, California, USA.

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http://doi.wiley.com/10.1002/pbc.22909
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http://dx.doi.org/10.1002/pbc.22909DOI Listing
March 2011

Autistic and psychiatric findings associated with the 3q29 microdeletion syndrome: case report and review.

Am J Med Genet A 2010 Oct;152A(10):2459-67

Department of Pathology and Laboratory Medicine, University of California, Los Angeles, California 90095, USA.

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http://doi.wiley.com/10.1002/ajmg.a.33573
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http://dx.doi.org/10.1002/ajmg.a.33573DOI Listing
October 2010

Bilateral exophthalmos: Report of a case and review of a fibroblast growth factor receptor 2 mutation associated with non-penetrant Crouzon syndrome.

J Paediatr Child Health 2010 Nov;46(11):693-5

Department of Pathology and Laboratory Medicine, David Geffen School of Medicine at UCLA, Los Angeles, California, United States.

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http://dx.doi.org/10.1111/j.1440-1754.2009.01692.xDOI Listing
November 2010

Dual role of wingless signaling in stem-like hematopoietic precursor maintenance in Drosophila.

Dev Cell 2009 May;16(5):756-63

Department of Molecular, Cell, and Developmental Biology, Molecular Biology Institute, University of California, Los Angeles, CA 90095, USA.

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http://linkinghub.elsevier.com/retrieve/pii/S153458070900093
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http://dx.doi.org/10.1016/j.devcel.2009.03.003DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2718753PMC
May 2009

Danon disease with typical early-onset cardiomyopathy in a male: focus on a novel LAMP-2 mutation.

Pediatr Transplant 2008 Mar 13;12(2):246-50. Epub 2008 Feb 13.

Department of Pediatrics, Moffitt Children's Hospital, UCSF, San Francisco, CA 94143, USA.

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http://dx.doi.org/10.1111/j.1399-3046.2007.00874.xDOI Listing
March 2008

The hematopoietic stem cell and its niche: a comparative view.

Genes Dev 2007 Dec;21(23):3044-60

Department of Human Genetics and Department of Pediatrics, David Geffen School of Medicine, University of California at Los Angeles, Los Angeles, California 90095, USA.

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http://dx.doi.org/10.1101/gad.1602607DOI Listing
December 2007

A Hedgehog- and Antennapedia-dependent niche maintains Drosophila haematopoietic precursors.

Nature 2007 Mar;446(7133):320-4

Department of Molecular, Cell and Developmental Biology, Molecular Biology Institute, Mattel Children's Hospital at UCLA, University of California, Los Angeles, Los Angeles, California 90095, USA.

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http://www.nature.com/articles/nature05585
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http://dx.doi.org/10.1038/nature05585DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2807630PMC
March 2007

Conserved family of glycerol kinase loci in Drosophila melanogaster.

Mol Genet Metab 2006 Aug 20;88(4):334-45. Epub 2006 Mar 20.

Department of Pediatrics, David Geffen School of Medicine at UCLA, USA.

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http://dx.doi.org/10.1016/j.ymgme.2006.01.002DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2807631PMC
August 2006