This subproject is one of many research subprojects utilizing the resources provided by a Center grant funded by NIH/NCRR. The subproject and investigator (PI) may have received primary funding from another NIH source, and thus could be represented in other CRISP entries. The institution listed is for the Center, which is not necessarily the institution for the investigator. The long-term goal of this study is to understand the molecular mechanisms of neoformation of dermal tissue in fibrotic diseases. To achieve this goal we study hereditary keloid formation. Keloids are benign tumors of the skin or cornea caused by overactivity of fibroblasts during abnormal wound repair. The relatively large number of familial cases of keloid formation makes it possible to propose a genetic approach for the identification of a gene responsible for increased cell proliferation and extracellular matrix expression. We perform genome wide screening and linkage analysis of suitably large families afflicted with the autosomal dominant form of hereditary keloid formation. Subsequently we identify and analyze the chromosomal loci. We have identified possible disease gene loci and are now in the process of establishing high resolution maps of the keloid loci. Additional families need to be identified and recruited to verify and further characterize the loci. These families will be tested for co-localization. Suitable families that do not co-localize to an existing locus will be used for genome wide screening.

Agency
National Institute of Health (NIH)
Institute
National Center for Research Resources (NCRR)
Type
General Clinical Research Centers Program (M01)
Project #
5M01RR006192-13
Application #
7377333
Study Section
National Center for Research Resources Initial Review Group (RIRG)
Project Start
2006-04-01
Project End
2007-03-31
Budget Start
2006-04-01
Budget End
2007-03-31
Support Year
13
Fiscal Year
2006
Total Cost
$28,906
Indirect Cost
Name
University of Connecticut
Department
Type
Schools of Medicine
DUNS #
022254226
City
Farmington
State
CT
Country
United States
Zip Code
Lieberman, Richard; Kranzler, Henry R; Levine, Eric S et al. (2018) Examining the effects of alcohol on GABAA receptor mRNA expression and function in neural cultures generated from control and alcohol dependent donor induced pluripotent stem cells. Alcohol 66:45-53
Usmani, Saad; Choquette, Linda; Bona, Robert et al. (2018) Transient bacteremia induced by dental cleaning is not associated with infection of central venous catheters in patients with cancer. Oral Surg Oral Med Oral Pathol Oral Radiol 125:286-294
Moscufo, Nicola; Wakefield, Dorothy B; Meier, Dominik S et al. (2018) Longitudinal microstructural changes of cerebral white matter and their association with mobility performance in older persons. PLoS One 13:e0194051
Santos-Cortez, Regie Lyn P; Hu, Ying; Sun, Fanyue et al. (2017) Identification of ASAH1 as a susceptibility gene for familial keloids. Eur J Hum Genet 25:1155-1161
Jin, Lingling; Liu, Yi; Sun, Fanyue et al. (2017) Three novel ANO5 missense mutations in Caucasian and Chinese families and sporadic cases with gnathodiaphyseal dysplasia. Sci Rep 7:40935
Lieberman, Richard; Kranzler, Henry R; Levine, Eric S et al. (2017) Examining FKBP5 mRNA expression in human iPSC-derived neural cells. Psychiatry Res 247:172-181
Liu, Yaling; Dutra, Eliane H; Reichenberger, Ernst J et al. (2016) Dietary phosphate supplement does not rescue skeletal phenotype in a mouse model for craniometaphyseal dysplasia. J Negat Results Biomed 15:18
Lieberman, Richard; Armeli, Stephen; Scott, Denise M et al. (2016) FKBP5 genotype interacts with early life trauma to predict heavy drinking in college students. Am J Med Genet B Neuropsychiatr Genet 171:879-87
Litt, Mark D; Duffy, Valerie; Oncken, Cheryl (2016) Cigarette smoking and electronic cigarette vaping patterns as a function of e-cigarette flavourings. Tob Control 25:ii67-ii72
Rash, Carla J; Burki, Madison; Montezuma-Rusca, Jairo M et al. (2016) A retrospective and prospective analysis of trading sex for drugs or money in women substance abuse treatment patients. Drug Alcohol Depend 162:182-9

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