Matthew L Warman

Matthew L Warman

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Matthew L Warman

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Intramuscular fast-flow vascular anomaly contains somatic MAP2K1 and KRAS mutations.

Angiogenesis 2019 Sep 5. Epub 2019 Sep 5.

Department of Plastic & Oral Surgery, Boston Children's Hospital, Harvard Medical School, 300 Longwood Ave, Boston, MA, 02115, USA.

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http://dx.doi.org/10.1007/s10456-019-09678-wDOI Listing
September 2019

Induction of Lrp5 HBM-causing mutations in Cathepsin-K expressing cells alters bone metabolism.

Bone 2019 03 25;120:166-175. Epub 2018 Oct 25.

Department of Anatomy & Cell Biology, Indiana University School of Medicine, Indianapolis, IN, USA; Richard L. Roudebush VA Medical Center, Indianapolis, IN, USA; Department of Biomedical Engineering, Indiana University-Purdue University at Indianapolis, Indianapolis, IN, USA. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S87563282183037
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http://dx.doi.org/10.1016/j.bone.2018.10.007DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6360125PMC
March 2019

The skeletal phenotype of achondrogenesis type 1A is caused exclusively by cartilage defects.

Development 2018 01 8;145(1). Epub 2018 Jan 8.

Orthopaedic Research Laboratories, Department of Orthopaedic Surgery, Boston Children's Hospital, Boston, MA 02115, USA

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http://dev.biologists.org/lookup/doi/10.1242/dev.156588
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http://dx.doi.org/10.1242/dev.156588DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5825869PMC
January 2018

Somatic PIK3CA mutations are present in multiple tissues of facial infiltrating lipomatosis.

Pediatr Res 2017 Nov 2;82(5):850-854. Epub 2017 Aug 2.

Department of Plastic & Oral Surgery, Boston Children's Hospital, Boston, Massachusetts.

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http://dx.doi.org/10.1038/pr.2017.155DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5645230PMC
November 2017

Mice maintain predominantly maternal Gαs expression throughout life in brown fat tissue (BAT), but not other tissues.

Bone 2017 Oct 8;103:177-187. Epub 2017 Jul 8.

Endocrine Unit, Department of Medicine, Massachusetts General Hospital, Harvard Medical School, Boston, MA, USA; Pediatric Nephrology Unit, Department of Pediatrics, Massachusetts General Hospital, Harvard Medical School, Boston, MA, USA. Electronic address:

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http://dx.doi.org/10.1016/j.bone.2017.07.001DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5943706PMC
October 2017

SHP2 Regulates the Osteogenic Fate of Growth Plate Hypertrophic Chondrocytes.

Sci Rep 2017 10 5;7(1):12699. Epub 2017 Oct 5.

Department of Orthopaedic Surgery, Brown University Alpert Medical School, Providence, RI, 02903, USA.

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http://dx.doi.org/10.1038/s41598-017-12767-9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5629218PMC
October 2017

A somatic GNA11 mutation is associated with extremity capillary malformation and overgrowth.

Angiogenesis 2017 Aug 24;20(3):303-306. Epub 2017 Jan 24.

Department of Plastic and Oral Surgery, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.

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http://dx.doi.org/10.1007/s10456-016-9538-1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5511772PMC
August 2017

CRISPR/CAS9 Technologies.

J Bone Miner Res 2017 May 23;32(5):883-888. Epub 2017 Feb 23.

Orthopaedic Research Laboratories, Boston Children's Hospital, Boston, MA, USA.

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http://dx.doi.org/10.1002/jbmr.3086DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5413371PMC
May 2017

Somatic MAP2K1 Mutations Are Associated with Extracranial Arteriovenous Malformation.

Am J Hum Genet 2017 Mar 9;100(3):546-554. Epub 2017 Feb 9.

Department of Plastic & Oral Surgery, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2017.01.018DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5339083PMC
March 2017

Enhanced Wnt signaling improves bone mass and strength, but not brittleness, in the Col1a1(+/mov13) mouse model of type I Osteogenesis Imperfecta.

Bone 2016 09 11;90:127-32. Epub 2016 Jun 11.

Orthopaedic Research Laboratories, Department of Orthopaedic Surgery, Boston Children's Hospital, Boston, MA, United States; Department of Genetics, Harvard Medical School, Boston, MA, United States; Howard Hughes Medical Institute, Boston Children's Hospital, Boston, MA, United States.

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http://dx.doi.org/10.1016/j.bone.2016.06.005DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4985001PMC
September 2016

Critical Endothelial Regulation by LRP5 during Retinal Vascular Development.

PLoS One 2016 31;11(3):e0152833. Epub 2016 Mar 31.

Department of Developmental Biology, Harvard School of Dental Medicine, and Department of Cell Biology, Harvard Medical School, Boston, Massachusetts, United States of America.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0152833PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4816525PMC
August 2016

Missense Mutations in LRP5 Associated with High Bone Mass Protect the Mouse Skeleton from Disuse- and Ovariectomy-Induced Osteopenia.

PLoS One 2015 10;10(11):e0140775. Epub 2015 Nov 10.

Department of Anatomy & Cell Biology, Indiana University School of Medicine, Indianapolis, Indiana, United States of America.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0140775PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4640505PMC
June 2016

Bone mineral properties in growing Col1a2(+/G610C) mice, an animal model of osteogenesis imperfecta.

Bone 2016 06 13;87:120-9. Epub 2016 Apr 13.

Weill Cornell Medical College, New York, NY, United States; Mineralized Tissues Laboratory, Hospital for Special Surgery, New York, NY, United States. Electronic address:

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http://dx.doi.org/10.1016/j.bone.2016.04.011DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4862917PMC
June 2016

Somatic Activating Mutations in GNAQ and GNA11 Are Associated with Congenital Hemangioma.

Am J Hum Genet 2016 Apr;98(4):789-95

Department of Orthopaedic Surgery, Boston Children's Hospital, Boston, MA 02115, USA; Department of Genetics, Harvard Medical School, Boston, MA 02115, USA; Vascular Anomalies Center, Boston Children's Hospital, Boston, MA 02115, USA; Howard Hughes Medical Institute, Boston Children's Hospital, Boston, MA 02115, USA. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S00029297163004
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http://dx.doi.org/10.1016/j.ajhg.2016.03.009DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4833432PMC
April 2016

Endothelial Cells from Capillary Malformations Are Enriched for Somatic GNAQ Mutations.

Plast Reconstr Surg 2016 Jan;137(1):77e-82e

Boston, Mass. From the Departments of Plastic and Oral Surgery, Surgery, and Orthopedic Surgery, Vascular Anomalies Center, Vascular Biology Program, and the Howard Hughes Medical Institute, Boston Children's Hospital; and the Department of Genetics, Harvard Medical School.

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http://dx.doi.org/10.1097/PRS.0000000000001868DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5242181PMC
January 2016

Lubricin restoration in a mouse model of congenital deficiency.

Arthritis Rheumatol 2015 Nov;67(11):3070-81

Rhode Island Hospital, Alpert Medical School of Brown University, and Brown University School of Engineering, Providence, Rhode Island.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4626303PMC
http://dx.doi.org/10.1002/art.39276DOI Listing
November 2015

Anti-lubricin monoclonal antibodies created using lubricin-knockout mice immunodetect lubricin in several species and in patients with healthy and diseased joints.

PLoS One 2015 2;10(2):e0116237. Epub 2015 Feb 2.

Howard Hughes Medical Institute and Department of Genetics, Case Western Reserve University, School of Medicine, Cleveland, OH, United States of America; Howard Hughes Medical Institute and Orthopaedics Research Laboratories, Boston Children's Hospital, and Departments of Genetics and Orthopaedic Surgery, Harvard Medical School, Boston, MA, United States of America.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0116237PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4314068PMC
October 2015

High Bone Mass-Causing Mutant LRP5 Receptors Are Resistant to Endogenous Inhibitors In Vivo.

J Bone Miner Res 2015 Oct;30(10):1822-30

Department of Anatomy and Cell Biology, Indiana University School of Medicine, Indianapolis, IN, USA.

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http://dx.doi.org/10.1002/jbmr.2514DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4580530PMC
October 2015

Mechanistic and therapeutic insights gained from studying rare skeletal diseases.

Bone 2015 Jul 27;76:67-75. Epub 2015 Mar 27.

Orthopaedic Research Laboratories, Boston Children's Hospital, 320 Longwood Avenue, Room EN260.1, Boston, MA 02115, USA. Electronic address:

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http://dx.doi.org/10.1016/j.bone.2015.03.016DOI Listing
July 2015

AKT hyper-phosphorylation associated with PI3K mutations in lymphatic endothelial cells from a patient with lymphatic malformation.

Angiogenesis 2015 Apr 26;18(2):151-62. Epub 2014 Nov 26.

Vascular Biology Program and Department of Surgery, Boston Children's Hospital, Harvard Medical School, Boston, MA, 02115, USA.

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http://dx.doi.org/10.1007/s10456-014-9453-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4366356PMC
April 2015

A somatic MAP3K3 mutation is associated with verrucous venous malformation.

Am J Hum Genet 2015 Mar 26;96(3):480-6. Epub 2015 Feb 26.

Department of Plastic and Oral Surgery, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA; Vascular Anomalies Center, Boston Children's Hospital, Boston, MA 02115, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2015.01.007DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4375628PMC
March 2015

A Wisp3 Cre-knockin allele produces efficient recombination in spermatocytes during early prophase of meiosis I.

PLoS One 2013 10;8(9):e75116. Epub 2013 Sep 10.

Orthopaedic Research Laboratories, Department of Orthopaedic Surgery, Boston Children's Hospital, Boston, Massachusetts, United States of America.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0075116PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3769254PMC
February 2015

SHP2 regulates chondrocyte terminal differentiation, growth plate architecture and skeletal cell fates.

PLoS Genet 2014 29;10(5):e1004364. Epub 2014 May 29.

Orthopaedic Research Laboratories, Boston Children's Hospital, Boston, Massachusetts, United States of America.

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http://dx.doi.org/10.1371/journal.pgen.1004364DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4038465PMC
December 2014

Targeting the LRP5 pathway improves bone properties in a mouse model of osteogenesis imperfecta.

J Bone Miner Res 2014 Oct;29(10):2297-306

Orthopaedic Research Laboratories, Department of Orthopaedic Surgery, Boston Children's Hospital, Boston, MA, USA; Division of Endocrinology, Boston Children's Hospital, Boston, MA, USA; Division of Genetics, Boston Children's Hospital, Boston, MA, USA; Department of Pediatrics, Harvard Medical School, Boston, MA, USA.

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http://doi.wiley.com/10.1002/jbmr.2198
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http://dx.doi.org/10.1002/jbmr.2198DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4130796PMC
October 2014

A normative study of the synovial fluid proteome from healthy porcine knee joints.

J Proteome Res 2014 Oct 3;13(10):4377-87. Epub 2014 Sep 3.

Department of Pathology and Proteomics Center, ‡Department of Orthopaedic Surgery, §Department of Urology, and ∥Howard Hughes Medical Institute, Boston Children's Hospital , Boston, Massachusetts 02115, United States.

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http://dx.doi.org/10.1021/pr500587xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4184458PMC
October 2014

PIK3CA activating mutations in facial infiltrating lipomatosis.

Plast Reconstr Surg 2014 Jan;133(1):12e-9e

Boston, Mass. From the Departments of Plastic and Oral Surgery, Orthopaedic Surgery, and Pathology and Howard Hughes Medical Institute, Boston Children's Hospital; and the Department of Genetics, Harvard Medical School.

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http://content.wkhealth.com/linkback/openurl?sid=WKPTLP:land
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http://dx.doi.org/10.1097/01.prs.0000436822.26709.7cDOI Listing
January 2014

Autopodial development is selectively impaired by misexpression of chordin-like 1 in the chick limb.

Dev Biol 2013 Sep 10;381(1):159-69. Epub 2013 Jun 10.

Orthopaedic Research Laboratories, Department of Orthopaedic Surgery, Boston Children's Hospital, Boston, MA 02115, USA.

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http://dx.doi.org/10.1016/j.ydbio.2013.06.003DOI Listing
September 2013

Golgi disruption and early embryonic lethality in mice lacking USO1.

PLoS One 2012 21;7(11):e50530. Epub 2012 Nov 21.

Orthopaedic Research Laboratories, Department of Orthopaedic Surgery, Boston Children's Hospital, Boston, Massachusetts, United States of America.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0050530PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3503957PMC
May 2013

Role of lubricin and boundary lubrication in the prevention of chondrocyte apoptosis.

Proc Natl Acad Sci U S A 2013 Apr 25;110(15):5852-7. Epub 2013 Mar 25.

Center for Biomedical Engineering and the School of Engineering, Brown University, Providence, RI 02912, USA.

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http://dx.doi.org/10.1073/pnas.1219289110DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3625316PMC
April 2013

Presphenoidal synchondrosis fusion in DBA/2J mice.

Mamm Genome 2013 Feb 21;24(1-2):54-62. Epub 2012 Nov 21.

Orthopaedic Research Laboratories, Boston Children's Hospital, Boston, MA, USA.

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http://dx.doi.org/10.1007/s00335-012-9437-8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3560942PMC
February 2013

Craniofacial abnormalities result from knock down of nonsyndromic clefting gene, crispld2, in zebrafish.

Genesis 2012 Dec 21;50(12):871-81. Epub 2012 Aug 21.

Department of Pediatrics, University of Texas Medical School at Houston, Houston, Texas, USA.

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http://doi.wiley.com/10.1002/dvg.22051
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http://dx.doi.org/10.1002/dvg.22051DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3535582PMC
December 2012

Mechanotransduction in bone tissue: The A214V and G171V mutations in Lrp5 enhance load-induced osteogenesis in a surface-selective manner.

Bone 2012 Sep 28;51(3):459-65. Epub 2012 Jun 28.

Department of Anatomy & Cell Biology, Indiana University School of Medicine, Indianapolis, IN, USA.

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http://dx.doi.org/10.1016/j.bone.2012.05.023DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3784262PMC
September 2012

Mutations in LRP5 cause primary osteoporosis without features of OI by reducing Wnt signaling activity.

BMC Med Genet 2012 Apr 10;13:26. Epub 2012 Apr 10.

Oulu Center for Cell-Matrix Research, Biocenter and Department of Medical Biochemistry and Molecular Biology, University of Oulu, Oulu, Finland.

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http://dx.doi.org/10.1186/1471-2350-13-26DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3374890PMC
April 2012

Efficient mapping and cloning of mutations in zebrafish by low-coverage whole-genome sequencing.

Genetics 2012 Mar 14;190(3):1017-24. Epub 2011 Dec 14.

Orthopedic Research Laboratories, Children's Hospital, Boston, Massachusetts 02115, USA.

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http://www.genetics.org/cgi/doi/10.1534/genetics.111.136069
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http://dx.doi.org/10.1534/genetics.111.136069DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3296239PMC
March 2012

Cyclic loading increases friction and changes cartilage surface integrity in lubricin-mutant mouse knees.

Arthritis Rheum 2012 Feb;64(2):465-73

Alpert Medical School of Brown University, Rhode Island Hospital Providence, Rhode Island 02903, USA.

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http://doi.wiley.com/10.1002/art.33337
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http://dx.doi.org/10.1002/art.33337DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3252402PMC
February 2012

Sox9 is upstream of microRNA-140 in cartilage.

Appl Biochem Biotechnol 2012 Jan 4;166(1):64-71. Epub 2011 Nov 4.

Department of Orthopaedic Surgery, Shinshu University School of Medicine, Matsumoto, Japan.

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http://link.springer.com/10.1007/s12010-011-9404-y
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http://dx.doi.org/10.1007/s12010-011-9404-yDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3774128PMC
January 2012

The mechanical properties of tail tendon fascicles from lubricin knockout, wild type and heterozygous mice.

J Struct Biol 2011 Oct 29;176(1):41-5. Epub 2011 Jul 29.

Biomechanics Laboratory, Division of Orthopedic Research, Mayo Clinic, Rochester, MN, USA.

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http://dx.doi.org/10.1016/j.jsb.2011.07.013DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3910539PMC
October 2011

Nosology and classification of genetic skeletal disorders: 2010 revision.

Am J Med Genet A 2011 May 15;155A(5):943-68. Epub 2011 Mar 15.

Orthopaedic Research Laboratories, Department of Orthopaedic Surgery, The Howard Hughes Medical Institute, Children's Hospital, Boston, Massachusetts, USA.

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http://dx.doi.org/10.1002/ajmg.a.33909DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3166781PMC
May 2011

Tendon fascicle gliding in wild type, heterozygous, and lubricin knockout mice.

J Orthop Res 2011 Mar 30;29(3):384-9. Epub 2010 Sep 30.

Orthopedic Biomechanics Laboratory, Division of Orthopedic Research, Mayo Clinic Rochester, Rochester, Minnesota, USA.

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http://doi.wiley.com/10.1002/jor.21247
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http://dx.doi.org/10.1002/jor.21247DOI Listing
March 2011

Normal growth and development in mice over-expressing the CCN family member WISP3.

J Cell Commun Signal 2009 Jun 29;3(2):105-13. Epub 2009 Apr 29.

Howard Hughes Medical Institute, Orthopaedic Research Laboratories, Department of Orthopaedic Surgery and Genetics, Children's Hospital and Harvard Medical School, Boston, MA, USA,

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http://dx.doi.org/10.1007/s12079-009-0040-zDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2721080PMC
June 2009

The binding between sclerostin and LRP5 is altered by DKK1 and by high-bone mass LRP5 mutations.

Calcif Tissue Int 2008 Jun;82(6):445-53

Department of Medical Genetics, University and University Hospital of Antwerp, Universiteitsplein 1, 2610 Antwerp, Belgium.

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http://dx.doi.org/10.1007/s00223-008-9130-9DOI Listing
June 2008

Association between friction and wear in diarthrodial joints lacking lubricin.

Arthritis Rheum 2007 Nov;56(11):3662-9

Brown University, Department of Emergency Medicine, Providence, Rhode Island 02903, USA.

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http://dx.doi.org/10.1002/art.22974DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2688668PMC
November 2007

The CCN family member Wisp3, mutant in progressive pseudorheumatoid dysplasia, modulates BMP and Wnt signaling.

J Clin Invest 2007 Oct;117(10):3075-86

Howard Hughes Medical Institute, Department of Genetics, and Center for Human Genetics, Case School of Medicine, Case Western Reserve University, Cleveland, Ohio, USA.

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http://www.jci.org/cgi/doi/10.1172/JCI32001
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http://dx.doi.org/10.1172/JCI32001DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1964511PMC
October 2007

Heterozygous mutations in natriuretic peptide receptor-B (NPR2) are associated with short stature.

J Clin Endocrinol Metab 2006 Apr 29;91(4):1229-32. Epub 2005 Dec 29.

Division of Endocrinology, Nemours Children's Clinic, Jacksonville, FL 32207, USA.

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http://dx.doi.org/10.1210/jc.2005-1949DOI Listing
April 2006

Somatic mosaicism in a male with an exon skipping mutation in PDHA1 of the pyruvate dehydrogenase complex results in a milder phenotype.

Mol Genet Metab 2006 Feb 18;87(2):162-8. Epub 2006 Jan 18.

Center for Inherited Disorders of Energy Metabolism, Case Western Reserve University, Cleveland, OH 44106, USA.

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http://dx.doi.org/10.1016/j.ymgme.2005.09.023DOI Listing
February 2006

Consequences of disease-causing mutations on lubricin protein synthesis, secretion, and post-translational processing.

J Biol Chem 2005 Sep 5;280(35):31325-32. Epub 2005 Jul 5.

Department of Genetics and Center for Human Genetics, Case Western Reserve University School of Medicine and University Hospitals of Cleveland, Cleveland, Ohio 44106, USA.

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http://dx.doi.org/10.1074/jbc.M505401200DOI Listing
September 2005

The secreted glycoprotein lubricin protects cartilage surfaces and inhibits synovial cell overgrowth.

J Clin Invest 2005 Mar;115(3):622-31

Department of Genetics, Center for Human Genetics, Case Western Reserve University School of Medicine and University Hospitals of Cleveland, Cleveland, Ohio 44106, USA.

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http://dx.doi.org/10.1172/JCI22263DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC548698PMC
March 2005

WISP3, the gene responsible for the human skeletal disease progressive pseudorheumatoid dysplasia, is not essential for skeletal function in mice.

Mol Cell Biol 2005 Jan;25(1):414-21

Department of Genetics, Case Western Reserve University, 2109 Adelbert Road, BRB 719, Cleveland, OH 44106-4955, USA.

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http://dx.doi.org/10.1128/MCB.25.1.414-421.2005DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC538768PMC
January 2005

Decreased BMD and limb deformities in mice carrying mutations in both Lrp5 and Lrp6.

J Bone Miner Res 2004 Dec 13;19(12):2033-40. Epub 2004 Sep 13.

Laboratory of Cell Signaling and Carcinogenesis, Van Andel Research Institute, Grand Rapids, Michigan, USA.

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http://dx.doi.org/10.1359/JBMR.040907DOI Listing
December 2004

Cohen syndrome in the Ohio Amish.

Am J Med Genet A 2004 Jul;128A(1):23-8

Department of Pediatrics, Case Western Reserve University and University Hospitals of Cleveland, Cleveland, Ohio, USA.

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http://dx.doi.org/10.1002/ajmg.a.30033DOI Listing
July 2004

Autosomal dominant acute necrotizing encephalopathy maps to 2q12.1-2q13.

Ann Neurol 2004 Feb;55(2):291-4

Department of Pediatrics, Case Western Reserve University School of Medicine and Rainbow Babies and Children's Hospital, Cleveland, OH 44106, USA.

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http://dx.doi.org/10.1002/ana.10849DOI Listing
February 2004

Intravenous bisphosphonate therapy in children with osteogenesis imperfecta.

Pediatrics 2003 Mar;111(3):573-8

Department of Genetics and Center for Human Genetics, University Hospitals of Cleveland and Case Western Reserve University School of Medicine, Cleveland, Ohio, USA.

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http://dx.doi.org/10.1542/peds.111.3.573DOI Listing
March 2003

Collagen XI sequence variations in nonsyndromic cleft palate, Robin sequence and micrognathia.

Eur J Hum Genet 2003 Mar;11(3):265-70

Collagen Research Unit, Biocenter and Department of Medical Biochemistry and Molecular Biology, University of Oulu, Finland.

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http://dx.doi.org/10.1038/sj.ejhg.5200950DOI Listing
March 2003

A novel mutation in the IHH gene causes brachydactyly type A1: a 95-year-old mystery resolved.

Hum Genet 2002 Oct 7;111(4-5):368-75. Epub 2002 Sep 7.

Ottawa Health Research Institute, 501 Smyth Road, Rm. 4G-101, Ottawa, Ontario, Canada, K1H 8L6.

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http://dx.doi.org/10.1007/s00439-002-0815-2DOI Listing
October 2002

Mutations in a novel factor, glomulin, are responsible for glomuvenous malformations ("glomangiomas").

Am J Hum Genet 2002 Apr 13;70(4):866-74. Epub 2002 Feb 13.

Laboratory of Human Molecular Genetics, Christian de Duve Institute of Cellular Pathology and Université catholique de Louvain, Avenue Hippocrate 74(+5), B-1200 Brussels, Belgium.

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http://dx.doi.org/10.1086/339492DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC379115PMC
April 2002

Significant difference of opinion regarding the role of noggin in fibrodysplasia ossificans progressiva.

Authors:
Matthew L Warman

Am J Med Genet 2002 Apr;109(2):162; author reply 163-4

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Source
http://dx.doi.org/10.1002/ajmg.10290DOI Listing
April 2002