Research Topics
| CYNTHIA CASSON MORTONSummaryAffiliation: Massachusetts General Hospital Country: USA Publications
Research Grants
| Collaborators
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Detail Information
Publications
Genetics, genomics and gene discovery in the auditory systemCynthia C Morton
Department of Obstetrics, Gynecology, and Reproductive Biology, Brigham and Women s Hospital and Harvard Medical School, Boston, MA 02115, USA
Hum Mol Genet 11:1229-40. 2002....- Gene discovery in the auditory system using a tissue specific approachCynthia C Morton
Harvard Medical School, Boston, Massachusetts, USA
Am J Med Genet A 130:26-8. 2004.... 
Molecular and cytogenetic characterization of plexiform leiomyomata provide further evidence for genetic heterogeneity underlying uterine fibroidsJennelle C Hodge
Brigham and Women s Hospital, Department of Obstetrics and Gynecology and Reproductive Biology, 77 Avenue Louis Pasteur, Boston, MA 02115, USA
Am J Pathol 172:1403-10. 2008..We further suggest that plexiform UL should be classified among tumors with extensive hyalinization rather than with "true" epithelioid smooth muscle neoplasms...- Uterine leiomyomata with deletions of Ip represent a distinct cytogenetic subgroup associated with unusual histologic featuresNicole C Christacos
Department of Obstetrics, Gynecology, and Reproductive Medicine, Brigham and Women's Hospital and Harvard Medical School, Boston, Massachusetts, USA
Genes Chromosomes Cancer 45:304-12. 2006..Furthermore, 1p-- appears to be associated with a specific histologic phenotype. The similarity between the transcriptional profiles of LMS and UL with 1p-- suggests the possibility of a common pathogenetic mechanism... - Expression studies of osteoglycin/mimecan (OGN) in the cochlea and auditory phenotype of Ogn-deficient miceRobin E Williamson
Department of Genetics, Harvard Medical School, Boston, MA, USA
Hear Res 237:57-65. 2008..Ogn-deficient mice, when analyzed by auditory brainstem response and distortion product otoacoustic emissions, have normal hearing thresholds... - Molecular pathogenesis of uterine smooth muscle tumors from transcriptional profilingBradley J Quade
Department of Pathology, Brigham and Women s Hospital and Harvard Medical School, Boston, Massachusetts 02115, USA
Genes Chromosomes Cancer 40:97-108. 2004..These genes define a tumor signature for uterine smooth muscle neoplasia, and they suggest that the molecular pathways in leiomyoma and leiomyosarcoma are distinct... - Confined placental mosaicism as a risk factor among newborns with fetal growth restrictionLouise Wilkins-Haug
Division of Maternal Fetal Medicine and Reproductive Genetics, Department of Obstetrics and Gynecology, Brigham and Women s Hospital, Boston, MA 02115, USA
Prenat Diagn 26:428-32. 2006..To delineate the frequency and clinical presentation of confined placental mosaicism (CPM) among newborns with idiopathic intrauterine growth restriction (IUGR) as compared to infants with appropriate fetal growth... - The genetics of uterine leiomyomata: what clinicians need to knowElizabeth A Stewart
Center for Uterine Fibroids, Department of Obstetrics, Gynecology, and Reproductive Biology, Brigham and Women s Hospital and Harvard Medical School, Boston, Massachusetts 02115, USA
Obstet Gynecol 107:917-21. 2006..The current role of family medical history and future implications of genes relevant to leiomyoma biology will be reviewed... - Intravenous leiomyomatosis is characterized by a der(14)t(12;14)(q15;q24)Paola Dal Cin
Department of Pathology, Brigham and Women s Hospital, Boston, Massachusetts 02115, USA
Genes Chromosomes Cancer 36:205-6. 2003..We propose that IVL arises from a uterine leiomyoma with a t(12;14)(q15;q24). The presence of an extra copy of 12q15-qter and/or loss of 14q24-qter may be a critical genetic event(s) leading to intravascular intrusion and proliferation... - Identifying the molecular signature of the interstitial deletion 7q subgroup of uterine leiomyomata using a paired analysisJennelle C Hodge
Department of Obstetrics, Gynecology and Reproductive Biology, Brigham and Women s Hospital, Boston, MA 02115, USA
Genes Chromosomes Cancer 48:865-85. 2009..This study provides a molecular signature of the del(7q) UL subgroup and will serve as a platform for future studies of tumor pathogenesis... - Genetic heterogeneity among uterine leiomyomata: insights into malignant progressionJennelle C Hodge
Department of Obstetrics, Gynecology and Reproductive Biology, Harvard Medical School, Brigham and Women s Hospital, Boston, MA 02115, USA
Hum Mol Genet 16:R7-13. 2007.... - Uterine leiomyomata and decreased height: a common HMGA2 predisposition alleleJennelle C Hodge
Department of Obstetrics, Gynecology and Reproductive Biology, Brigham and Women s Hospital, Boston, MA 02115, USA
Hum Genet 125:257-63. 2009..These results indicate HMGA2 has a role in two growth-related phenotypes, UL predisposition and height, of which the former may affect future medical management decisions for many women... - The genetic heterogeneity of uterine leiomyomataMelissa K Lobel
Department of Obstetrics, Brigham and Women's Hospital and Harvard Medical School, 77 Avenue Louis Pasteur, NRB, Room 160, Boston, MA 02115, USA
Obstet Gynecol Clin North Am 33:13-39. 2006..3), and combined with developing less invasive therapies portends a brighter future for a major health problem for women... - Uterine leiomyomata with t(10;17) disrupt the histone acetyltransferase MORFSteven D P Moore
Department of Pathology, Brigham and Women's Hospital, Boston, MA 02115, USA
Cancer Res 64:5570-7. 2004..Involvement of MORF in four uterine leiomyomata with chromosomal rearrangements involving 10q22 and 17q21 suggests a role for this histone acetyltransferase and altered chromatin regulation in uterine mesenchymal neoplasia... - PCOLCE deletion and expression analyses in uterine leiomyomataAzra H Ligon
Department of Pathology, Brigham and Women s Hospital, Boston, MA, USA
Cancer Genet Cytogenet 137:133-7. 2002..Here we evaluate by reverse-transcriptase polymerase chain reaction (RT-PCR) and fluorescence in situ hybridization the expression and deletion status of PCOLCE in a series of karyotyped uterine leiomyomata... - Gene discovery in the auditory system: characterization of additional cochlear-expressed sequencesBarbara L Resendes
Department of Obstetrics, Gynecology and Reproductive Biology, Brigham and Women's Hospital, Boston, MA 02115, USA
J Assoc Res Otolaryngol 3:45-53. 2002..Identification of additional known genes, ESTs, and cochlear-specific ESTs provides new candidate genes for both syndromic and nonsyndromic deafness disorders... - Methylthioadenosine phosphorylase (MTAP) in hearing: gene disruption by chromosomal rearrangement in a hearing impaired individual and model organism analysisRobin E Williamson
Department of Genetics, Harvard Medical School, Boston, Massachusetts, USA
Am J Med Genet A 143:1630-9. 2007..A knockout mouse model for MTAP deficiency was also created and no significant hearing loss was detected in heterozygotes for Mtap. Homozygous Mtap-deficient mice were embryonic lethal... - Characterization of an abundant COL9A1 transcript in the cochlea with a novel 3' UTR: Expression studies and detection of miRNA target sequenceTheru A Sivakumaran
Department of Obstetrics, Gynecology and Reproductive Biology, Brigham and Women s Hospital, Boston, MA 02115, USA
J Assoc Res Otolaryngol 7:160-72. 2006.... - Isolation from cochlea of a novel human intronless gene with predominant fetal expressionBarbara L Resendes
Department of Obstetrics, Gynecology and Reproductive Biology, Brigham and Women s Hospital, Boston, MA 02115, USA
J Assoc Res Otolaryngol 5:185-202. 2004.... - Heparin inhibits the motility and proliferation of human myometrial and leiomyoma smooth muscle cellsHolly R Mason
Program in Cell, Molecular, and Developmental Biology, Sackler School of Graduate Biomedical Sciences, Tufts University, Boston, Massachusetts 02114, USA
Am J Pathol 162:1895-904. 2003..These results warrant further investigation into the possibility that heparin might be useful in the treatment of uterine fibroids... - Fusion transcripts involving HMGA2 are not a common molecular mechanism in uterine leiomyomata with rearrangements in 12q15Bradley J Quade
Department of Pathology, Brigham and Women s Hospital and Harvard Medical School, Boston, Massachusetts 02115, USA
Cancer Res 63:1351-8. 2003..The pattern of rearrangements suggests dysregulated expression of HMGA2, most often by translocation of chromosome 14 sequence 5' to this gene... - Disruption of diacylglycerol kinase delta (DGKD) associated with seizures in humans and miceNatalia T Leach
Department of Obstetrics, Gynecology, and Reproductive Biology, Brigham and Women s Hospital and Harvard Medical School, Boston, MA 02115, USA
Am J Hum Genet 80:792-9. 2007..These findings implicate DGKD disruption by the t(X;2)(p11.2;q37)dn in the observed phenotype and support a more general role for DGKD in the etiology of seizures... - Disruption of neurexin 1 associated with autism spectrum disorderHyung Goo Kim
Molecular Neurogenetics Unit, Center for Human Genetic Research and Department of Neurology, Massachusetts General Hospital, Harvard Medical School, Boston, MA 02114, USA
Am J Hum Genet 82:199-207. 2008.... - Structural genomic variation and personalized medicineCharles Lee
Department of Pathology, Brigham and Women's Hospital, Harvard Medical School, Boston, USA
N Engl J Med 358:740-1. 2008 - Is the disruption of an N-myristoyltransferase (NMT2) associated with hypoplastic testes?Fabiola Quintero-Rivera
Massachusetts General Hospital, Center for Human Genetic Research, Boston, Massachusetts, USA
Am J Med Genet A 143:1796-8. 2007 
Novel SSBP2-JAK2 fusion gene resulting from a t(5;9)(q14.1;p24.1) in pre-B acute lymphocytic leukemiaJennifer L Poitras
Department of Pathology, Brigham and Women s Hospital, Boston, MA 02115, USA
Genes Chromosomes Cancer 47:884-9. 2008..This finding adds to the expanding compendium of JAK2 aberrations found in various hematopoietic malignancies, as well as the potential need for a diagnostic FISH analysis in the appropriate clinical setting...- Disruption of ROBO2 is associated with urinary tract anomalies and confers risk of vesicoureteral refluxWeining Lu
Genetics Division, Brigham and Women s Hospital, Harvard Medical School, Boston, MA 02115, USA
Am J Hum Genet 80:616-32. 2007..Adult heterozygous and mosaic mutant mice with reduced Robo2 gene dosage also exhibit striking CAKUT-VUR phenotypes. Collectively, these results implicate the SLIT-ROBO signaling pathway in the pathogenesis of a subset of human VUR... - Vascular defects and sensorineural deafness in a mouse model of Norrie diseaseHeidi L Rehm
Neurosurgery Service, Massachusetts General Hospital, Boston, Massachusetts 02114, Harvard Medical School, Boston, Massachusetts 02115, USA
J Neurosci 22:4286-92. 2002..We propose that one of the principal functions of norrin in the ear is to regulate the interaction of the cochlea with its vasculature... - The sequence, expression, and chromosomal localization of a novel polycystic kidney disease 1-like gene, PKD1L1, in humanTakeshi Yuasa
Renal Division, Department of Medicine, Brigham and Women s Hospital and Harvard Medical School, Boston, Massachusetts 02115, USA
Genomics 79:376-86. 2002..We hypothesize a role for polycystin-1L1 in the heart and in the male reproductive system... - A targeted Coch missense mutation: a knock-in mouse model for DFNA9 late-onset hearing loss and vestibular dysfunctionNahid G Robertson
Department of Obstetrics, Gynecology and Reproductive Biology, Brigham and Women s Hospital, Boston, MA 02115, USA
Hum Mol Genet 17:3426-34. 2008..This is the only mouse model developed to date where hearing loss begins at such an advanced age, providing an opportunity to study both progressive age-related hearing loss and possible interventional therapies... - ELF4 is fused to ERG in a case of acute myeloid leukemia with a t(X;21)(q25-26;q22)Steven D P Moore
Department of Obstetrics, Gynecology and Reproductive Biology, Brigham and Women s Hospital, 75 Francis Street, Boston, MA 02115, USA
Leuk Res 30:1037-42. 2006..This is the first reported case of an ELF4-ERG fusion and identification of the specific ERG exon involved in the fusion that differentiates ERG isoforms. In addition, this case also directly implicates a new role for ELF4 in cancer... - Continuing to break the sound barrier: genes in hearingLinda M Call
Department of Obstetrics, Brigham and Women s Hospital, 75 Francis Street, Thorn 623, Boston, Massachusetts 02115, USA
Curr Opin Genet Dev 12:343-8. 2002..The role of mitochondrial genes in the hearing process has also contributed to elucidating the workings of the auditory system... - Psoriasin expression in mammary epithelial cells in vitro and in vivoCharlotta Enerback
Department of Adult Oncology, Dana Farber Cancer Institute, Boston, Massachusetts 02115, USA
Cancer Res 62:43-7. 2002..All of these conditions are characteristic of high-grade DCIS and psoriatic skin lesions; therefore, the same mechanisms may be responsible for increased expression of psoriasin in vitro and in vivo... - Candidate loci for Zimmermann-Laband syndrome at 3p14.3Hyung Goo Kim
Molecular Neurogenetics Unit, Center for Human Genetic Research, Massachusetts General Hospital Department of Genetics, Harvard Medical School, Boston, Massachusetts, USA
Am J Med Genet A 143:107-11. 2007.... - NR2F1 deletion in a patient with a de novo paracentric inversion, inv(5)(q15q33.2), and syndromic deafnessKerry K Brown
Department of Genetics, Harvard Medical School, Boston, Massachusetts 02115, USA
Am J Med Genet A 149:931-8. 2009..Additionally, this study further highlights the need for high resolution analysis of clinical samples with chromosomal rearrangements as associated deletions may be primarily responsible for the clinical features of these patients... - Deletion of an enhancer near DLX5 and DLX6 in a family with hearing loss, craniofacial defects, and an inv(7)(q21.3q35)Kerry K Brown
Department of Genetics, Harvard Medical School, Boston, MA, USA
Hum Genet 127:19-31. 2010..Consequently, the observed familial syndrome is likely caused by dysregulation of DLX5 and/or DLX6 in specific tissues due to deletion of an enhancer and possibly separation from other regulatory elements by the chromosomal inversion... - Reporting of diagnostic cytogenetic resultsAzra H Ligon
Brigham and Women's Hospital, Boston, Massachusetts, USA
Curr Protoc Hum Genet . 2004..Multi-specimen usage macros are included that can be applied to two or more specimen types... - A neural survival factor is a candidate oncogene in breast cancerDale Porter
Department of Medical Oncology, Dana Farber Cancer Institute, Boston, MA 02115, USA
Proc Natl Acad Sci U S A 100:10931-6. 2003..Based on these data we hypothesize that DCD may play a role in tumorigenesis by means of enhancing cell growth and survival in a subset of breast carcinomas... - Characterization of apparently balanced chromosomal rearrangements from the developmental genome anatomy projectAnne W Higgins
Department of Pathology, Brigham and Women s Hospital and Harvard Medical School, Boston, MA 02115, USA
Am J Hum Genet 82:712-22. 2008..Chromosomal rearrangements, both balanced and unbalanced, in individuals with multiple congenital anomalies continue to be a valuable resource for gene discovery and annotation... - Tumor-associated endothelial cells with cytogenetic abnormalitiesKyoko Hida
Vascular Biology Program, Department of Surgery, Children's Hospital and Harvard Medical School, Boston, Massachusetts 02115, USA
Cancer Res 64:8249-55. 2004..FISH analysis of tumor sections also showed endothelial cell aneuploidy. We conclude that tumor endothelial cells can acquire cytogenetic abnormalities while in the tumor microenvironment... - Constitutional rearrangement of the architectural factor HMGA2: a novel human phenotype including overgrowth and lipomasAzra H Ligon
Department of Pathology, Gynecology and Reproductive Biology, Brigham and Women s Hospital, and Harvard Medical School, Boston, MA, USA
Am J Hum Genet 76:340-8. 2005..Systematic genetic analysis and clinical studies of this child may offer unique insights into the role of HMGA2 in adipogenesis, osteogenesis, and general growth control... - Cochlin immunostaining of inner ear pathologic deposits and proteomic analysis in DFNA9 deafness and vestibular dysfunctionNahid G Robertson
Department of Pathology, Brigham and Women s Hospital, Harvard Medical School, Boston, MA 02115, USA
Hum Mol Genet 15:1071-85. 2006.... - SUMO1 haploinsufficiency leads to cleft lip and palateFowzan S Alkuraya
Division of Genetics, Department of Medicine, Brigham and Women s Hospital and Harvard Medical School, NRB 458, 77 Louis Pasteur, Boston, MA 02115, USA
Science 313:1751. 2006..Thus, sumoylation defines a network of genes important for palatogenesis... - NFIA haploinsufficiency is associated with a CNS malformation syndrome and urinary tract defectsWeining Lu
Genetics Division, Brigham and Women s Hospital and Harvard Medical School, Boston, Massachusetts, United States of America
PLoS Genet 3:e80. 2007.... - Newborn hearing screening--a silent revolutionCynthia C Morton
Department of Obstetrics, Gynecology, and Reproductive Biology, Brigham and Women's Hospital and Harvard Medical School, Boston, USA
N Engl J Med 354:2151-64. 2006 - Self-injurious behaviours in people with and without intellectual delay: implications for the genetics of suicideCarl Ernst
Harvard Medical School, Department of Neurology, Boston, MA, USA
Int J Neuropsychopharmacol 13:527-8. 2010..Genes identified as causative in people with intellectual delay that show SIBs may be the same genes that have an effect on suicide outcome in people without intellectual delay that self-injure...
Research Grants
- CLONING GENES INVOLVED IN HEARINGCynthia Morton; Fiscal Year: 2004..abstract_text> ..
- TRAINING GRANT IN GENETICSCynthia Morton; Fiscal Year: 2007..The HMS Training Grant in Genetics is an integral component in accomplishing the HPCGG goal of training the next generation of medical geneticists and represents one of the Center's major educational opportunities. ..
- Finding Genes for Uterine FibroidsCynthia Morton; Fiscal Year: 2007..net: "Finding Genes for Fibroids"). Ultimately, understanding genetic pathways involved in the formation of UL may lead to I improved treatment options for affected women and lifestyle changes for at risk individuals. ..
- CLONING GENES INVOLVED IN HEARINGCynthia Morton; Fiscal Year: 2007..This application is responsive to PA-06-456, "Proteomics in Auditory and Developmental and Disease! Processes" as the experimental plan includes "proteomic analyses of auditory genetic disorders" using mass spectrometry. ..
- CLONING GENES INVOLVED IN HEARINGCynthia Morton; Fiscal Year: 2009..A more complete knowledge of the genes involved in the auditory system will provide a foundation for future diagnosis, management and treatment of hearing loss. ..
- Genetic Studies of Uterine LeiomyomataCYNTHIA CASSON MORTON; Fiscal Year: 2010..A more complete understanding of the genes involved in the pathogenesis and pathobiology of uterine leiomyomata will provide a foundation for future diagnosis, management and treatment of uterine fibroids. ..
- CLONING GENES INVOLVED IN HEARINGCynthia Morton; Fiscal Year: 2001..These and other cochlear specific ESTs will then be pursued as positional candidates for mapped forms of syndromic and non-syndromic deafness. ..
- MOLECULAR AND CYTOGENETIC STUDIES OF UTERINE LEIOMYOMATACynthia Morton; Fiscal Year: 2002....
- CLONING GENES INVOLVED IN HEARINGCYNTHIA CASSON MORTON; Fiscal Year: 2010..A more complete knowledge of the genes involved in the auditory system will provide a foundation for future diagnosis, management and treatment of hearing loss. ..