Administrative Core The Administrative Core (AC) will be based at Baylor College of Medicine within the Department of Molecular and Human Genetics and the Rolanette and Berdon Lawrence Bone Disease Program of Texas. It serves an important role in integrating and facilitating the activities of the Program Project Grant (PPG). Given that the Program is distributed in three sites and methodological expertise for three prongs of the Approach are centered respectively at these sites, exchange and materials and resources is critical for success of the Program. As such the Administrative Core will have the following objectives 1) Establish and facilitate regular video teleconference meetings for all four research groups and for PIs. 2) Coordinate the shipment and transfer of human and mouse tissues. 3) Manage financial and track consortium agreements, and funds transfers as well as reporting. 4) Coordinate annual in person meetings of the PPG as well as ad hoc review committee and review of the program. 5) Facilitate communication and track interactions with collaborating infrastructure. A major strength and innovation of this PPG is its unique position as a nexus of multiple large NIH funded and other programs that can feed into the aims of the PPG.

Agency
National Institute of Health (NIH)
Institute
Eunice Kennedy Shriver National Institute of Child Health & Human Development (NICHD)
Type
Research Program Projects (P01)
Project #
2P01HD070394-06
Application #
9184863
Study Section
Special Emphasis Panel (ZHD1-DSR-Y (50)1)
Project Start
Project End
Budget Start
2016-07-01
Budget End
2017-06-30
Support Year
6
Fiscal Year
2016
Total Cost
$100,243
Indirect Cost
$36,998
Name
Baylor College of Medicine
Department
Type
DUNS #
051113330
City
Houston
State
TX
Country
United States
Zip Code
77030
Alhamdi, Shatha; Lee, Yi-Chien; Chowdhury, Shimul et al. (2018) Heterozygous WNT1 variant causing a variable bone phenotype. Am J Med Genet A 176:2419-2424
Cundy, Tim; Dray, Michael; Delahunt, John et al. (2018) Mutations That Alter the Carboxy-Terminal-Propeptide Cleavage Site of the Chains of Type I Procollagen Are Associated With a Unique Osteogenesis Imperfecta Phenotype. J Bone Miner Res 33:1260-1271
Hudson, David M; Archer, Marilyn; King, Karen B et al. (2018) Glycation of type I collagen selectively targets the same helical domain lysine sites as lysyl oxidase-mediated cross-linking. J Biol Chem 293:15620-15627
Zeng, Huan-Chang; Bae, Yangjin; Dawson, Brian C et al. (2017) MicroRNA miR-23a cluster promotes osteocyte differentiation by regulating TGF-? signalling in osteoblasts. Nat Commun 8:15000
Duran, Ivan; Martin, Jorge H; Weis, Mary Ann et al. (2017) A Chaperone Complex Formed by HSP47, FKBP65, and BiP Modulates Telopeptide Lysyl Hydroxylation of Type I Procollagen. J Bone Miner Res 32:1309-1319
Hudson, David M; Weis, MaryAnn; Rai, Jyoti et al. (2017) P3h3-null and Sc65-null Mice Phenocopy the Collagen Lysine Under-hydroxylation and Cross-linking Abnormality of Ehlers-Danlos Syndrome Type VIA. J Biol Chem 292:3877-3887
Marom, Ronit; Jain, Mahim; Burrage, Lindsay C et al. (2017) Heterozygous variants in ACTL6A, encoding a component of the BAF complex, are associated with intellectual disability. Hum Mutat 38:1365-1371
Machol, Keren; Jain, Mahim; Almannai, Mohammed et al. (2017) Corner fracture type spondylometaphyseal dysplasia: Overlap with type II collagenopathies. Am J Med Genet A 173:733-739
Lee, Chae Syng; Fu, He; Baratang, Nissan et al. (2017) Mutations in Fibronectin Cause a Subtype of Spondylometaphyseal Dysplasia with ""Corner Fractures"". Am J Hum Genet 101:815-823
Abbott, Megan; Jain, Mahim; Pferdehirt, Rachel et al. (2017) Neonatal fractures as a presenting feature of LMOD3-associated congenital myopathy. Am J Med Genet A 173:2789-2794

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