Search Results - "Brooks, BP"

Genotypic heterogeneity and clinical phenotype in triple A syndrome: a review of the NIH experience 2000-2005 by Brooks, BP, Kleta, R, Stuart, C, Tuchman, M, Jeong, A, Stergiopoulos, SG, Bei, T, Bjornson, B, Russell, L, Chanoine, J-P, Tsagarakis, S, Kalsner, LR, Stratakis, CA

“…Triple A syndrome (AAAS, OMIM#231550) is an autosomal recessive condition characterized by adrenal insufficiency, achalasia, alacrima, neurodegeneration and…”
Get full text

Infantile spasms as a cause of acquired perinatal visual loss by Brooks, Brian P., Simpson, Jennifer L., Leber, Steven M., Robertson, Patricia L., Archer, Steven M.

“…Background: Visual abnormalities have been described in patients with infantile spasms (IS), an epileptic syndrome of early childhood. Methods: We report on 3…”
Get full text

FOXC2 haploinsufficient mice are a model for human autosomal dominant lymphedema-distichiasis syndrome by Kriederman, Benjamin M., Myloyde, Teressa L., Witte, Marlys H., Dagenais, Susan L., Witte, Charles L., Rennels, Margaret, Bernas, Michael J., Lynch, Michelle T., Erickson, Robert P., Caulder, Mark S., Miura, Naoyuki, Jackson, David, Brooks, Brian P., Glover, Thomas W.

“…Lymphedema-distichiasis (LD) (OMIM 153400) is a rare autosomal-dominant condition characterized by pubertal onset of lower limb lymphedema and an aberrant…”
Get full text

Monoclonal Antibody and IgE Binding to Purified Natural Cry j 1 by Wünschmann, S, Brooks, B.P, Koid, A.E, Ichikawa, K, Chapman, M.D

“…Natural Cry j 1 was purified from defatted Japanese cedar pollen extract by Concanavalin A- and size exclusion chromatography…”
Get full text

Optic atrophies in metabolic disorders by Huizing, Marjan, Brooks, Brian P., Anikster, Yair

“…Optic nerve involvement in metabolic disorders often results from apoptosis of cells that form or support the optic nerve, the retinal ganglion cell (RGC)…”
Get full text

Bone morphogenetic protein but not transforming growth factor-β enhances Bone formation in canine diaphyseal nonunions implanted with a biodegradable composite polymer by HECKMAN, J. D, EHLER, W, BROOKS, B. P, AUFDEMORTE, T. B, LOHMANN, C. H, MORGAN, T, BOYAN, B. D

“…The purpose of the present study was to create an effective bone-graft substitute for the treatment of a diaphyseal nonunion. A standardized nonunion was…”
Get full text

Linear stability conditions for a first-order three-dimensional discrete dynamic by Brooks, B.P

“…Linear stability conditions for a first-order three-dimensional discrete dynamic are derived in terms of the trace, determinant, and sum of principle minors of…”
Get full text

A Cell Culture Model for Androgen Effects in Motor Neurons by Brooks, Brian P., Merry, Diane E., Paulson, Henry L., Lieberman, Andrew P., Kolson, Dennis L., Fischbeck, Kenneth H.

“…: Androgens are known to alter the morphology, survival, and axonal regeneration of lower motor neurons in vivo. To understand better the molecular mechanisms…”
Get full text

Spinal and bulbar muscular atrophy: a trinucleotide-repeat expansion neurodegenerative disease by Brooks, Brian P., Fischbeck, Kenneth H.

“…Spinal and bulbar muscular atrophy (SBMA) is an X-linked, adult-onset motor neuronopathy that is caused by expansion of a trinucleotide (CAG) repeat in the…”
Get full text

Increased Corneal Thickness In Patients With Ocular Coloboma by Tang, Johnny, Gokhale, Parag A., Brooks, Steven E., Blain, Delphine, Brooks, Brian P.

Get full text

Characterization of an Expanded Glutamine Repeat Androgen Receptor in a Neuronal Cell Culture System by Brooks, Brian P., Paulson, Henry L., Merry, Diane E., Salazar-Grueso, Edgar F., Brinkmann, Albert O., Wilson, Elizabeth M., Fischbeck, Kenneth H.

“…Spinal and bulbar muscular atrophy (SBMA) is an inherited form of lower motor neuron degeneration caused by expansion of a CAG repeat in the androgen receptor…”
Get full text

Mutation of the FOXC2 gene in familial distichiasis by Brooks, Brian P, Dagenais, Susan L, Nelson, Christine C, Glynn, Michael W, Caulder, Mark S, Downs, Catherine A, Glover, Thomas W

“…To examine the FOXC2 gene in a family with hereditary distichiasis. Distichiasis, ie, a second row of eyelashes arising from the meibomian glands of the…”
Get full text

Factor VII deficiency and developmental abnormalities in a patient with partial monosomy of 13q and trisomy of 16p: case report and review of the literature by Brooks, Brian P, Meck, Jeanne M, Haddad, Bassem R, Bendavid, Claude, Blain, Delphine, Toretsky, Jeffrey A

“…Unbalanced chromosomal translocations may present with a variety of clinical and laboratory findings and provide insight into the functions of genes on the…”
Get full text

A novel mutation in the PITX2 gene in a family with Axenfeld-Rieger syndrome by Brooks, Brian P., Moroi, Sayoko E., Downs, Catherine A., Wiltse, Shannon, Othman, Mohammad I., Semina, Elena V., Richards, Julia E.

“…Purpose: To determine the underlying genetic cause of Axenfeld-Rieger syndrome (ARS) in a three-generation family. Introduction: ARS is a multisystem,…”
Get full text

Pharmacologic profile of MDMA (3,4-methylenedioxymethamphetamine) at various brain recognition sites by Battaglia, G, Brooks, B P, Kulsakdinun, C, De Souza, E B

“…We report here an in vitro pharmacologic profile for MDMA (3,4-methylenedioxymethamphetamine) at various brain recognition sites. The rank order of affinities…”
Get more information

Sigma receptors: from molecule to man by Ferris, C D, Hirsch, D J, Brooks, B P, Snyder, S H

Get more information

Matrix vesicles produced by osteoblast-like cells in culture become significantly enriched in proteoglycan-degrading metalloproteinases after addition of β-glycerophosphate and ascorbic acid by DEAN, D. D, SCHWARTZ, Z, BONEWALD, L, MUNIZ, O. E, MORALES, S, GOMEZ, R, BROOKS, B. P, QIAO, M, HOWELL, D. S, BOYAN, B. D

“…Matrix vesicles, media vesicles, and plasma membranes from three well-characterized, osteoblast-like cells (ROS 17/2.8, MG-63, and MC-3T3-E1) were evaluated…”
Get full text

Gender-specific, maturation-dependent effects of testosterone on chondrocytes in culture by Schwartz, Z, Nasatzky, E, Ornoy, A, Brooks, B P, Soskolne, W A, Boyan, B D

“…This study examined the effects of testosterone on chondrocytes in vitro in order to determine whether the effects of testosterone were dependent on the stage…”
Get more information

Nongenomic regulation of chondrocyte membrane fluidity by 1,25-(OH)2D3 and 24,25-(OH)2D3 is dependent on cell maturation by Swain, L D, Schwartz, Z, Caulfield, K, Brooks, B P, Boyan, B D

“…1,25-(OH)2D3 and 24,25-(OH)2D3 regulate rat costochondral chondrocyte cultures in a metabolite-specific manner; 1,25-(OH)2D3 targets primarily growth zone…”
Get more information

Culture surfaces coated with various implant materials affect chondrocyte growth and metabolism by Hambleton, J, Schwartz, Z, Khare, A, Windeler, S W, Luna, M, Brooks, B P, Dean, D D, Boyan, B D

“…The effect on chondrocyte metabolism of culture surfaces sputter-coated with various materials used for orthopaedic implants was studied and correlated with…”
Get more information