Genomes and Genes
Affiliation: University of Michigan
- Exclusion of PITX2 mutations as a major cause of CHARGE associationDonna 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...
- Common genetic variants, acting additively, are a major source of risk for autismLambertus Klei
Department of Psychiatry, University of Pittsburgh School of Medicine, Pittsburgh, Pennsylvania, USA
Mol Autism 3:9. 2012..abstract:..
- Disruption of RAB40AL function leads to Martin--Probst syndrome, a rare X-linked multisystem neurodevelopmental human disorderJirair 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...
- PITX2 is required for normal development of neurons in the mouse subthalamic nucleus and midbrainDonna 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...
- Pitx2 distinguishes subtypes of terminally differentiated neurons in the developing mouse neuroepitheliumDonna 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...
- Cre fate mapping reveals lineage specific defects in neuronal migration with loss of Pitx2 function in the developing mouse hypothalamus and subthalamic nucleusJennifer M Skidmore
Department of Pediatrics, The University of Michigan Medical Center, Ann Arbor, Michigan 48109, USA
Mol Cell Neurosci 37:696-707. 2008....
- Defects in vestibular sensory epithelia and innervation in mice with loss of Chd7 function: implications for human CHARGE syndromeMeredith 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...
- Genetics of subthalamic nucleus in development and diseaseSteven 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...
- 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 nogginDavid 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....
- A novel chromosome 19p13.12 deletion in a child with multiple congenital anomaliesDaniel 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...
- Characterization of a stapes ankylosis family with a NOG mutationDavid 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)...
- The ATP-dependent chromatin remodeling enzyme CHD7 regulates pro-neural gene expression and neurogenesis in the inner earElizabeth 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...
- Nestin-lineage cells contribute to the microvasculature but not endocrine cells of the isletMary 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...
- Duplication 16p11.2 in a child with infantile seizure disorderJirair 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...
- Protein kinase C phosphorylation modulates N- and C-terminal regulatory activities of the PITX2 homeodomain proteinHerbert 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...
- Characterization of progenitor domains in the developing mouse thalamusTou 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...
- PITX2, beta-catenin and LEF-1 interact to synergistically regulate the LEF-1 promoterUsha 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...
- Nestin-Cre mediated deletion of Pitx2 in the mouseAnthony 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...
- Branchiootorenal syndrome and oculoauriculovertebral spectrum features associated with duplication of SIX1, SIX6, and OTX2 resulting from a complex chromosomal rearrangementZhishuo 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...
- Skewed X-inactivation in carriers establishes linkage in an X-linked deafness-mental retardation syndromeFrank J Probst
Am J Med Genet A 131:209-12. 2004
- Role of Pitx2 in the Mammalian Central Nervous SystemDonna Martin; Fiscal Year: 2005..5-14.5) mouse diencephalon, 2) Develop and analyze mice with Pitx2 loss of function, and 3) Develop and analyze transgenic mice with CNS-specific Pitx2 gain of function. ..
- Pitx2 Function in Developing Mouse Brain NeuronsDonna M Martin; Fiscal Year: 2010..These results will help guide future experiments aimed at directing neural stem cell differentiation toward specific neuronal cell subtypes. ..