Search Results - "Whyte, M. P."

Alendronate for the Treatment of Pediatric Osteogenesis Imperfecta: A Randomized Placebo-Controlled Study by Ward, L. M, Rauch, F, Whyte, M. P, D'Astous, J, Gates, P. E, Grogan, D, Lester, E. L, McCall, R. E, Pressly, T. A, Sanders, J. O, Smith, P. A, Steiner, R. D, Sullivan, E, Tyerman, G, Smith-Wright, D. L, Verbruggen, N, Heyden, N, Lombardi, A, Glorieux, F. H

“…Oral alendronate (5 or 10 mg daily) for 2 years in children with osteogenesis imperfecta was well-tolerated, significantly increased spine bone mineral…”
Get full text

Enzyme Replacement Therapy Prevents Dental Defects in a Model of Hypophosphatasia by McKee, M.D., Nakano, Y., Masica, D.L., Gray, J.J., Lemire, I., Heft, R., Whyte, M.P., Crine, P., Millán, J.L.

“…Hypophosphatasia (HPP) occurs from loss-of-function mutation in the tissue-non-specific alkaline phosphatase (TNALP) gene, resulting in extracellular…”
Get full text

Cementum and Dentin in Hypophosphatasia by van den Bos, T., Handoko, G., Niehof, A., Ryan, L.M., Coburn, S.P., Whyte, M.P., Beertsen, W.

“…Hypophosphatasia (HPP) often leads to premature loss of deciduous teeth, due to disturbed cementum formation. We addressed the question to what extent cementum…”
Get full text

Mutations in TNFRSF11A , affecting the signal peptide of RANK, cause familial expansile osteolysis by Hughes, Anne E, Ralston, Stuart H, Marken, John, Bell, Christine, MacPherson, Heather, Wallace, Richard G.H, van Hul, Wim, Whyte, Michael P, Nakatsuka, Kyoshi, Hovy, Louis, Anderson, Dirk M

“…Familial expansile osteolysis (FEO, MIM 174810) is a rare, autosomal dominant bone disorder characterized by focal areas of increased bone remodelling. The…”
Get full text

Osteoprotegerin Deficiency and Juvenile Paget's Disease by Whyte, Michael P, Obrecht, Sara E, Finnegan, Patrick M, Jones, Jonathan L, Podgornik, Michelle N, McAlister, William H, Mumm, Steven

“…Juvenile Paget's disease is an autosomal recessive osteopathy characterized by rapidly remodeling woven bone, osteopenia, fractures, and progressive skeletal…”
Get full text

Calcium-sensing receptor mutations in familial benign hypercalcemia and neonatal hyperparathyroidism by Pearce, S H, Trump, D, Wooding, C, Besser, G M, Chew, S L, Grant, D B, Heath, D A, Hughes, I A, Paterson, C R, Whyte, M P

“…Familial benign hypercalcemia (FBH) and neonatal hyperparathyroidism (NHPT) are disorders of calcium homeostasis that are associated with missense mutations of…”
Get full text

Alkaline Phosphatase Knock‐Out Mice Recapitulate the Metabolic and Skeletal Defects of Infantile Hypophosphatasia by Fedde, Kenton N., Blair, Libby, Silverstein, Julie, Coburn, Stephen P., Ryan, Lawrence M., Weinstein, Robert S., Waymire, Katrina, Narisawa, Sonoko, Millán, José L., Macgregor, Grant R., Whyte, Michael P.

“…Hypophosphatasia is an inborn error of metabolism characterized by deficient activity of the tissue‐nonspecific isoenzyme of alkaline phosphatase (TNSALP) and…”
Get full text

Matrix vesicles in osteomalacic hypophosphatasia bone contain apatite- like mineral crystals by Anderson, HC, Hsu, HH, Morris, DC, Fedde, KN, Whyte, MP

“…Hypophosphatasia, a heritable disease characterized by deficient activity of the tissue nonspecific isoenzyme of alkaline phosphatase (TNSALP), results in…”
Get full text

X-linked hypophosphatemia : A search for gender, race, anticipation, or parent of origin effects on disease expression in children by WHYTE, M. P, SCHRANCK, F. W, ARMAMENTO-VILLAREAL, R

“…X-Linked hypophosphatemia (XLH) is a sex-linked dominant disorder. It is possible that females are more mildly affected than males. No information is available…”
Get full text

Localization of Familial Benign Hypercalcemia, Oklahoma Variant (FBH Ok ), to Chromosome 19q13 by Lloyd, Sarah E., Pannett, Anna A.J., Dixon, Peter H., Whyte, Michael P., Thakker, Rajesh V.

“…Calcium homeostasis by the kidneys and parathyroids is mediated by the calcium-sensing receptor (CaSR), which is located on 3q21-q24 and belongs to family C of…”
Get full text

Carbonic anhydrase II deficiency by Whyte, M P

“…Carbonic anhydrase (CA) isoenzyme II deficiency--formerly called the syndrome of osteopetrosis with renal tubular acidosis and cerebral calcification--is an…”
Get more information

Periodontal Defects in the A116T Knock-in Murine Model of Odontohypophosphatasia by Foster, B.L., Sheen, C.R., Hatch, N.E., Liu, J., Cory, E., Narisawa, S., Kiffer-Moreira, T., Sah, R.L., Whyte, M.P., Somerman, M.J., Millán, J.L.

“…Mutations in ALPL result in hypophosphatasia (HPP), a disease causing defective skeletal mineralization. ALPL encodes tissue nonspecific alkaline phosphatase…”
Get full text

Clinical Delineation and Localization to Chromosome 9p13.3–p12 of a Unique Dominant Disorder in Four Families: Hereditary Inclusion Body Myopathy, Paget Disease of Bone, and Frontotemporal Dementia by Kovach, Margaret J., Waggoner, Brook, Leal, Suzanne M., Gelber, David, Khardori, Romesh, Levenstien, Mark A., Shanks, Christy A., Gregg, Gregory, Al-Lozi, Muhammad T., Miller, Timothy, Rakowicz, Wojtek, Lopate, Glenn, Florence, Juliane, Glosser, Guila, Simmons, Zachary, Morris, John C., Whyte, Michael P., Pestronk, Alan, Kimonis, Virginia E.

“…Autosomal dominant myopathy, Paget disease of bone, and dementia constitute a unique disorder (MIM 605382). Here we describe the clinical, biochemical,…”
Get full text

Calcium-sensing receptor mutations in familial hypocalciuric hypercalcaemia with recurrent pancreatitis by Pearce, S H, Wooding, C, Davies, M, Tollefsen, S E, Whyte, M P, Thakker, R V

“…Pancreatitis is an unusual complication of the benign disorder familial hypocalciuric hypercalcaemia (FHH) such that it could represent a distinct subgroup of…”
Get more information

Inclusion body myopathy associated with Paget disease of bone and frontotemporal dementia is caused by mutant valosin-containing protein by Kimonis, Virginia E, Watts, Giles D J, Wymer, Jill, Kovach, Margaret J, Mehta, Sarju G, Mumm, Steven, Darvish, Daniel, Pestronk, Alan, Whyte, Michael P

“…Inclusion body myopathy associated with Paget disease of bone and frontotemporal dementia (IBMPFD) is a dominant progressive disorder that maps to chromosome…”
Get full text

Severe hypophosphatemia in children with kwashiorkor is associated with increased mortality by Manary, Mark J., Hart, C.Anthony, Whyte, Michael P.

“…Severe hypophosphatemia, serum phosphate concentration <0.32 mmol/L (<1.0 mg/dL), occurred in 8 of 68 (12%) of children with kwashiorkor within 48 hours of…”
Get full text

Mutational analysis of PHEX gene in X-linked hypophosphatemia by DIXON, P. H, CHRISTIE, P. T, SMITH, C, TAU, C, SCHLESSINGER, D, WHYTE, M. P, THAKKER, R. V, WOODING, C, TRUMP, D, GRIEFF, M, HOLM, I, GERTNER, J. M, SCHMIDTKE, J, SHAH, B, SHAW, N

“…Hypophosphatemic rickets is commonly an X-linked dominant disorder (XLH or HYP) associated with a renal tubular defect in phosphate transport and bone…”
Get full text

A Missense Mutation in the Human Liver/Bone/Kidney Alkaline Phosphatase Gene Causing a Lethal Form of Hypophosphatasia by Weiss, Mitchell J., David E. C. Cole, Ray, Kunal, Whyte, Michael P., Lafferty, Mary Ann, Mulivor, Richard A., Harris, Harry

“…Hypophosphatasia is an inherited disorder characterized by defective bone mineralization and a deficiency of serum and tissue liver/bone/kidney alkaline…”
Get full text

Pseudohypoparathyroidism type Ib is not caused by mutations in the coding exons of the human parathyroid hormone (PTH)/PTH-related peptide receptor gene by Schipani, E, Weinstein, L S, Bergwitz, C, Iida-Klein, A, Kong, X F, Stuhrmann, M, Kruse, K, Whyte, M P, Murray, T, Schmidtke, J

“…Pseudohypoparathyroidism type Ib (PHP-Ib) is thought to be caused by a PTH/PTH-related peptide (PTHrP) receptor defect. To search for receptor mutations in…”
Get more information

Different Missense Mutations at the Tissue-Nonspecific Alkaline Phosphatase Gene Locus in Autosomal Recessively Inherited Forms of Mild and Severe Hypophosphatasia by Henthorn, Paula S., Raducha, Michael, Fedde, Kenton N., Lafferty, Mary Ann, Whyte, Michael P.

“…Hypophosphatasia is a heritable form of rickets/osteomalacia with extremely variable clinical expression. Severe forms are inherited in an autosomal recessive…”
Get full text