This subproject is one of many research subprojects utilizing theresources provided by a Center grant funded by NIH/NCRR. The subproject andinvestigator (PI) may have received primary funding from another NIH source,and thus could be represented in other CRISP entries. The institution listed isfor the Center, which is not necessarily the institution for the investigator.Nail Patella Syndrome (NPS) is a pleiotropic autosomal dominant condition affecting the nails, skeletal system, kidneys and eyes. Skeletal features include absent or hypoplastic patellae, patella dislocations, elbow abnormalities, talipes and iliac horns. Kidney involvement may lead to renal failure and there is also a risk of glaucoma. Heterozygous loss of function mutations in the gene encoding the transcription factor LMX1B cause NPS in humans. Evidence from animal models suggest that loss of LMX1B function affects the dorso-ventral polarity of the developing limb, resulting in nail dysplasia, patellar hypoplasia and the aberrant muscle insertions observed among NPS patients. Because LMX1B is a transcription factor, some NPS disease manifestations are also due to abnormal downstream regulation of other transacting genes; this is evidenced by LMX1B's influence on COL4A4 expression in glomerular basement membrane. As progress is made to understand LMX1B's function at a molecular and cellular level, it is imperative that affected individuals are accurately phenotyped in order to understand the manifestations of LMX1B mutations at an organism level. This will allow earlier detection, intervention and, possibly treatment and prognosis of the disease components of NPS. Provisions to collect longitudinal clinical data from this NPS study cohort will also provide information about the progression of kidney disease that can then be applied to all NPS patients.

Agency
National Institute of Health (NIH)
Institute
National Center for Research Resources (NCRR)
Type
General Clinical Research Centers Program (M01)
Project #
5M01RR000052-46
Application #
7604591
Study Section
Special Emphasis Panel (ZRR1-CR-1 (01))
Project Start
2006-12-01
Project End
2007-09-16
Budget Start
2006-12-01
Budget End
2007-09-16
Support Year
46
Fiscal Year
2007
Total Cost
$225
Indirect Cost
Name
Johns Hopkins University
Department
Internal Medicine/Medicine
Type
Schools of Medicine
DUNS #
001910777
City
Baltimore
State
MD
Country
United States
Zip Code
21218
Grams, Morgan E; Sang, Yingying; Ballew, Shoshana H et al. (2018) Predicting timing of clinical outcomes in patients with chronic kidney disease and severely decreased glomerular filtration rate. Kidney Int 93:1442-1451
Yanik, Elizabeth L; Hernández-Ramírez, Raúl U; Qin, Li et al. (2018) Brief Report: Cutaneous Melanoma Risk Among People With HIV in the United States and Canada. J Acquir Immune Defic Syndr 78:499-504
Aboud, Katherine S; Barquero, Laura A; Cutting, Laurie E (2018) Prefrontal mediation of the reading network predicts intervention response in dyslexia. Cortex 101:96-106
Kattan, Meyer; Bacharier, Leonard B; O'Connor, George T et al. (2018) Spirometry and Impulse Oscillometry in Preschool Children: Acceptability and Relationship to Maternal Smoking in Pregnancy. J Allergy Clin Immunol Pract 6:1596-1603.e6
Altekruse, Sean F; Shiels, Meredith S; Modur, Sharada P et al. (2018) Cancer burden attributable to cigarette smoking among HIV-infected people in North America. AIDS 32:513-521
Salemi, Parissa; Skalamera Olson, Julie M; Dickson, Lauren E et al. (2018) Ossifications in Albright Hereditary Osteodystrophy: Role of Genotype, Inheritance, Sex, Age, Hormonal Status, and BMI. J Clin Endocrinol Metab 103:158-168
Robert Braši?, James; Mari, Zoltan; Lerner, Alicja et al. (2018) Remission of Gilles de la Tourette Syndrome after Heat-Induced Dehydration. Int J Phys Med Rehabil 6:
Altman, Matthew C; Whalen, Elizabeth; Togias, Alkis et al. (2018) Allergen-induced activation of natural killer cells represents an early-life immune response in the development of allergic asthma. J Allergy Clin Immunol 142:1856-1866
AIDS-defining Cancer Project Working Group of IeDEA, COHERE in EuroCoord (2018) Non-Hodgkin lymphoma risk in adults living with HIV across five continents. AIDS 32:2777-2786
Juraschek, Stephen P; Miller 3rd, Edgar R; Appel, Lawrence J (2018) Orthostatic Hypotension and Symptoms in the AASK Trial. Am J Hypertens 31:665-671

Showing the most recent 10 out of 1014 publications