Donna Martin

Summary

Affiliation: University of Michigan
Country: USA

Publications

  1. ncbi request reprint Exclusion of PITX2 mutations as a major cause of CHARGE association
    Donna M Martin
    Department of Pediatrics, The University of Michigan Medical School, Ann Arbor 48109 0688, USA
    Am J Med Genet 111:27-30. 2002
  2. doi request reprint Chromatin remodeling in development and disease: focus on CHD7.
    Donna M Martin
    Department of Pediatrics, The University of Michigan, Ann Arbor, Michigan, United States of America
    PLoS Genet 6:e1001010. 2010
  3. pmc Common genetic variants, acting additively, are a major source of risk for autism
    Lambertus Klei
    Department of Psychiatry, University of Pittsburgh School of Medicine, Pittsburgh, Pennsylvania, USA
    Mol Autism 3:9. 2012
  4. pmc Disruption of RAB40AL function leads to Martin--Probst syndrome, a rare X-linked multisystem neurodevelopmental human disorder
    Jirair Krikor Bedoyan
    Department of Pediatrics, University of Michigan, Ann Arbor, MI, USA
    J Med Genet 49:332-40. 2012
  5. ncbi request reprint PITX2 is required for normal development of neurons in the mouse subthalamic nucleus and midbrain
    Donna M Martin
    Department of Pediatrics and Communicable Diseases, The University of Michigan, Ann Arbor, MI 48109, USA
    Dev Biol 267:93-108. 2004
  6. ncbi request reprint Pitx2 distinguishes subtypes of terminally differentiated neurons in the developing mouse neuroepithelium
    Donna M Martin
    Department of Pediatrics and Communicable Diseases, University of Michigan, Ann Arbor, 48109, USA
    Dev Biol 252:84-99. 2002
  7. pmc Cre fate mapping reveals lineage specific defects in neuronal migration with loss of Pitx2 function in the developing mouse hypothalamus and subthalamic nucleus
    Jennifer M Skidmore
    Department of Pediatrics, The University of Michigan Medical Center, Ann Arbor, Michigan 48109, USA
    Mol Cell Neurosci 37:696-707. 2008
  8. ncbi request reprint Genetics of subthalamic nucleus in development and disease
    Steven T Philips
    Department of Pediatrics, The University of Michigan, Ann Arbor, MI 48109, USA
    Exp Neurol 192:320-30. 2005
  9. ncbi request reprint Defects in vestibular sensory epithelia and innervation in mice with loss of Chd7 function: implications for human CHARGE syndrome
    Meredith E Adams
    Department of Otolaryngology, The University of Michigan, Ann Arbor, Michigan 48109, USA
    J Comp Neurol 504:519-32. 2007
  10. pmc Autosomal dominant stapes ankylosis with broad thumbs and toes, hyperopia, and skeletal anomalies is caused by heterozygous nonsense and frameshift mutations in NOG, the gene encoding noggin
    David J Brown
    Department of Otolaryngology Head and Neck Surgery, University of Michigan Health System, Ann Arbor, MI, USA
    Am J Hum Genet 71:618-24. 2002

Collaborators

  • MARCI LESPERANCE
  • Philip Gage
  • Salvador Martinez
  • Lisa A Schimmenti
  • Yehoash Raphael
  • Lizhi Zhang
  • Barbara Reid
  • Sau W Cheung
  • Susan Christian
  • Ravinesh A Kumar
  • Manami Hara
  • JEFFREY MILUNSKY
  • Roger Albin
  • Julie Douglas
  • Brian P Brooks
  • B A Amendt
  • P Hedera
  • Friedhelm Hildebrandt
  • Jennifer M Skidmore
  • Jirair K Bedoyan
  • Elizabeth A Hurd
  • David J Brown
  • Anthony M Sclafani
  • Usha Vadlamudi
  • Herbert M Espinoza
  • Lambertus Klei
  • Jirair Krikor Bedoyan
  • Elizabeth M Petty
  • Daniel R Jensen
  • A Craig Chinault
  • Zhishuo Ou
  • James F Martin
  • Tou Yia Vue
  • Meredith E Adams
  • Mrudula Ganga
  • Steven T Philips
  • Frank J Probst
  • Mary Kay Treutelaar
  • Sayoko E Moroi
  • Peter J Strouse
  • Theresa B Kim
  • Catherine A Downs
  • Weiping Peng
  • James S Sutcliffe
  • Amol C Shetty
  • Shrikant M Mane
  • Timothy W Yu
  • Kajari Mondal
  • Joseph A Micucci
  • Christa Lese Martin
  • A Jeremy Willsey
  • Eric M Morrow
  • Michael E Zwick
  • Yongsheng Bai
  • Nadine M Melhem
  • Dorothy E Grice
  • Edwin H Cook
  • Michael T Murtha
  • Catherine Lord
  • James D Cavalcoli
  • Mark Durham
  • Jun Z Li
  • Daniel Geschwind
  • David H Ledbetter
  • Jennifer K Lowe
  • Vanessa Hus
  • Julie B Kaplan
  • Matthew W State
  • Stephan J Sanders
  • Christopher A Walsh
  • Bernie Devlin
  • Valerie M Schaibley
  • Eric Fombonne
  • Anthony Antonellis
  • Charles E Schwartz
  • Cindy Skinner
  • Daniel Moreno-De-Luca
  • Arti Dhiraaj
  • Pauline Chaste
  • Kathryn Roeder
  • Ramaswamy K Iyer
  • Faye Silverstein
  • Todd Ackley
  • Jyotsna Sudi
  • Heather K Poucher
  • Katherine Cheng
  • Trilochan Sahoo
  • Moumita Chaki
  • Ellen K Brundage
  • Edgar A Otto

Detail Information

Publications21

  1. ncbi request reprint Exclusion of PITX2 mutations as a major cause of CHARGE association
    Donna M Martin
    Department of Pediatrics, The University of Michigan Medical School, Ann Arbor 48109 0688, USA
    Am J Med Genet 111:27-30. 2002
    ..Together, these data indicate that PITX2 mutations are unlikely to be a major contributing cause of the multiple anomalies present in individuals with CHARGE...
  2. doi request reprint Chromatin remodeling in development and disease: focus on CHD7.
    Donna M Martin
    Department of Pediatrics, The University of Michigan, Ann Arbor, Michigan, United States of America
    PLoS Genet 6:e1001010. 2010
  3. pmc Common genetic variants, acting additively, are a major source of risk for autism
    Lambertus Klei
    Department of Psychiatry, University of Pittsburgh School of Medicine, Pittsburgh, Pennsylvania, USA
    Mol Autism 3:9. 2012
    ....
  4. pmc Disruption of RAB40AL function leads to Martin--Probst syndrome, a rare X-linked multisystem neurodevelopmental human disorder
    Jirair Krikor Bedoyan
    Department of Pediatrics, University of Michigan, Ann Arbor, MI, USA
    J Med Genet 49:332-40. 2012
    ..The authors sought to identify the causative mutation for MPS...
  5. ncbi request reprint PITX2 is required for normal development of neurons in the mouse subthalamic nucleus and midbrain
    Donna M Martin
    Department of Pediatrics and Communicable Diseases, The University of Michigan, Ann Arbor, MI 48109, USA
    Dev Biol 267:93-108. 2004
    ..Our results suggest a role for Pitx2 in regulating regionally specific terminal neuronal differentiation in the developing ventrolateral thalamus and midbrain...
  6. ncbi request reprint Pitx2 distinguishes subtypes of terminally differentiated neurons in the developing mouse neuroepithelium
    Donna M Martin
    Department of Pediatrics and Communicable Diseases, University of Michigan, Ann Arbor, 48109, USA
    Dev Biol 252:84-99. 2002
    ..Our results suggest that PITX2 expression in postmitotic neurons may contribute to development of GABAergic and other differentiated neuronal phenotypes...
  7. pmc Cre fate mapping reveals lineage specific defects in neuronal migration with loss of Pitx2 function in the developing mouse hypothalamus and subthalamic nucleus
    Jennifer M Skidmore
    Department of Pediatrics, The University of Michigan Medical Center, Ann Arbor, Michigan 48109, USA
    Mol Cell Neurosci 37:696-707. 2008
    ....
  8. ncbi request reprint Genetics of subthalamic nucleus in development and disease
    Steven T Philips
    Department of Pediatrics, The University of Michigan, Ann Arbor, MI 48109, USA
    Exp Neurol 192:320-30. 2005
    ..In this report, we discuss recent evidence for transcription factor mediated regulation of STN development. We also review STN developmental neurobiology and known patterns of gene expression in the developing and mature STN...
  9. ncbi request reprint Defects in vestibular sensory epithelia and innervation in mice with loss of Chd7 function: implications for human CHARGE syndrome
    Meredith E Adams
    Department of Otolaryngology, The University of Michigan, Ann Arbor, Michigan 48109, USA
    J Comp Neurol 504:519-32. 2007
    ..These observations have important functional implications for understanding the clinical manifestations of CHD7 mutations in humans and for designing therapies to treat inner ear vestibular dysfunction...
  10. pmc Autosomal dominant stapes ankylosis with broad thumbs and toes, hyperopia, and skeletal anomalies is caused by heterozygous nonsense and frameshift mutations in NOG, the gene encoding noggin
    David J Brown
    Department of Otolaryngology Head and Neck Surgery, University of Michigan Health System, Ann Arbor, MI, USA
    Am J Hum Genet 71:618-24. 2002
    ....
  11. ncbi request reprint Nestin-lineage cells contribute to the microvasculature but not endocrine cells of the islet
    Mary Kay Treutelaar
    Department of Internal Medicine, University of Michigan, Ann Arbor, Michigan, USA
    Diabetes 52:2503-12. 2003
    ..The apparent vascular nature of the nestin-positive cell population and the close association with endocrine cells suggest that nestin-positive cells play an important role in the growth and maintenance of the islet...
  12. pmc A novel chromosome 19p13.12 deletion in a child with multiple congenital anomalies
    Daniel R Jensen
    Division of Pediatric Otolaryngology, Department of Otolaryngology Head and Neck Surgery, University of Michigan Health System, Ann Arbor, Michigan 48109 5241, USA
    Am J Med Genet A 149:396-402. 2009
    ..52 Mb deletion at 19p13.12, which was confirmed by fluorescent in situ hybridization and demonstrated to be a de novo mutation by testing of the parents. Overall, deletions of chromosome 19p13 are rare...
  13. pmc Duplication 16p11.2 in a child with infantile seizure disorder
    Jirair K Bedoyan
    Department of Pediatrics, The University of Michigan, Ann Arbor, Michigan 48109 5652, USA
    Am J Med Genet A 152:1567-74. 2010
    ..2 interval may contribute to this severe disorder...
  14. ncbi request reprint Characterization of a stapes ankylosis family with a NOG mutation
    David J Brown
    Department of Otolaryngology Head and Neck Surgery, University of Michigan Health System, Ann Arbor, Michigan 48109, USA
    Otol Neurotol 24:210-5. 2003
    ..To characterize the otologic phenotype in a family with autosomal dominant stapes ankylosis, hyperopia, and skeletal abnormalities caused by a mutation in the noggin gene (NOG)...
  15. pmc The ATP-dependent chromatin remodeling enzyme CHD7 regulates pro-neural gene expression and neurogenesis in the inner ear
    Elizabeth A Hurd
    Department of Pediatrics, The University of Michigan, Ann Arbor, MI 48109, USA
    Development 137:3139-50. 2010
    ..These data indicate that epigenetic regulation of gene expression by CHD7 must be tightly coordinated for proper development of inner ear neuroblasts...
  16. ncbi request reprint PITX2, beta-catenin and LEF-1 interact to synergistically regulate the LEF-1 promoter
    Usha Vadlamudi
    Department of Biological Science, The University of Tulsa, 600 S College Ave, Tulsa, OK 74104 3189, USA
    J Cell Sci 118:1129-37. 2005
    ..LEF-1 and beta-catenin interactions with PITX2 provide new mechanisms for the regulation of PITX2 transcriptional activity...
  17. ncbi request reprint Protein kinase C phosphorylation modulates N- and C-terminal regulatory activities of the PITX2 homeodomain protein
    Herbert M Espinoza
    Department of Biological Science, The University of Tulsa, Tulsa, Oklahoma 74104 3189, USA
    Biochemistry 44:3942-54. 2005
    ..Overall, phosphorylation imparts another level of regulation to the activity of the PITX2 homeodomain protein during development...
  18. ncbi request reprint Nestin-Cre mediated deletion of Pitx2 in the mouse
    Anthony M Sclafani
    Molecular, Cellular and Developmental Biology Graduate Program, Yale College of Medicine, New Haven, Connecticut, USA
    Genesis 44:336-44. 2006
    ..These data indicate that normal differentiation of midbrain neurons depends upon adequate Pitx2 function during the period of active neurogenesis...
  19. ncbi request reprint Characterization of progenitor domains in the developing mouse thalamus
    Tou Yia Vue
    Department of Neuroscience, University of Minnesota, Minneapolis, Minnesota 55455, USA
    J Comp Neurol 505:73-91. 2007
    ..These results establish the molecular heterogeneity within the progenitor cells of the thalamus, and suggest that such heterogeneity contributes to the specification of thalamic nuclei...
  20. ncbi request reprint Skewed X-inactivation in carriers establishes linkage in an X-linked deafness-mental retardation syndrome
    Frank J Probst
    Am J Med Genet A 131:209-12. 2004
  21. doi request reprint Branchiootorenal syndrome and oculoauriculovertebral spectrum features associated with duplication of SIX1, SIX6, and OTX2 resulting from a complex chromosomal rearrangement
    Zhishuo Ou
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA
    Am J Med Genet A 146:2480-9. 2008
    ..Interestingly, mutations in SIX1 have been reported in patients with BOR/BOS3. We propose that the increased dosage of SIX1, SIX6, or OTX2 may be responsible for the BOR and OAVS-like features in this family...