Search Results - "Mumm, Steven"

“Atypical femoral fractures” during bisphosphonate exposure in adult hypophosphatasia by Sutton, Roger AL, Mumm, Steven, Coburn, Stephen P, Ericson, Karen L, Whyte, Michael P

“…We report a 55‐year‐old woman who suffered atypical subtrochanteric femoral fractures (ASFFs) after 4 years of exposure to alendronate and then zolendronate…”
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Congenital insensitivity to pain: Fracturing without apparent skeletal pathobiology caused by an autosomal dominant, second mutation in SCN11A encoding voltage-gated sodium channel 1.9 by Phatarakijnirund, Voraluck, Mumm, Steven, McAlister, William H, Novack, Deborah V, Wenkert, Deborah, Clements, Karen L, Whyte, Michael P

“…Abstract Congenital insensitivity to pain (CIP) comprises the rare heritable disorders without peripheral neuropathy that feature inability to feel pain…”
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Calcific Periarthritis as the Only Clinical Manifestation of Hypophosphatasia in Middle‐Aged Sisters by Guañabens, Núria, Mumm, Steven, Möller, Ingrid, González‐Roca, Eva, Peris, Pilar, Demertzis, Jennifer L, Whyte, Michael P

“…ABSTRACT Hypophosphatasia (HPP) is the inborn error of metabolism that features low serum alkaline phosphatase (ALP) activity caused by loss‐of‐function…”
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Hypophosphatasia: Nonlethal disease despite skeletal presentation in utero (17 new cases and literature review) by Wenkert, Deborah, McAlister, William H, Coburn, Stephen P, Zerega, Janice A, Ryan, Lawrence M, Ericson, Karen L, Hersh, Joseph H, Mumm, Steven, Whyte, Michael P

“…Hypophosphatasia (HPP) is caused by deactivating mutation(s) within the gene that encodes the tissue‐nonspecific isoenzyme of alkaline phosphatase (TNSALP)…”
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LRP6 High Bone Mass Characterized in Two Generations Harboring a Unique Mutation of Low‐Density Lipoprotein Receptor‐Related Protein 6 by Whyte, Michael P, Mumm, Steven, Baker, Jonathan C, Zhang, Fan, Sedighi, Homer, Duan, Shenghui, Cundy, Tim

“…ABSTRACT Osteoblast Wnt/β‐catenin signaling conditions skeletal development and health. Bone formation is stimulated when on the osteoblast surface a Wnt binds…”
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Acute Severe Hypercalcemia After Traumatic Fractures and Immobilization in Hypophosphatasia Complicated by Chronic Renal Failure by Whyte, Michael P, Leelawattana, Rattana, Reinus, William R, Yang, Chang, Mumm, Steven, Novack, Deborah V

“…Context: Hypophosphatasia (HPP) features deficient activity of the “tissue-nonspecific” isoenzyme of alkaline phosphatase (TNSALP) due to loss-of-function…”
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Fibrodysplasia ossificans progressiva: Middle‐age onset of heterotopic ossification from a unique missense mutation (c.974G > C, p.G325A) in ACVR1 by Whyte, Michael P, Wenkert, Deborah, Demertzis, Jennifer L, DiCarlo, Edward F, Westenberg, Erica, Mumm, Steven

“…Fibrodysplasia ossificans progressiva (FOP) is the rare mendelian disease characterized by congenital malformation of the great toes preceding heterotopic…”
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Infantile Hypophosphatasia: Transplantation Therapy Trial Using Bone Fragments and Cultured Osteoblasts by Cahill, Richard A., Wenkert, Deborah, Perlman, Sharon A., Steele, Ann, Coburn, Stephen P., McAlister, William H., Mumm, Steven, Whyte, Michael P.

“…Background: Hypophosphatasia (HPP) is a rare, heritable, metabolic bone disease due to deficient activity of the tissue-nonspecific isoenzyme of alkaline…”
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Pyridoxine-responsive seizures as the first symptom of infantile hypophosphatasia caused by two novel missense mutations (c.677T > C, p.M226T; c.1112C > T, p.T371I) of the tissue-nonspecific alkaline phosphatase gene by Baumgartner-Sigl, Sara, Haberlandt, Edda, Mumm, Steven, Scholl-Bürgi, Sabine, Sergi, Consolato, Ryan, Lawrence, Ericson, Karen L, Whyte, Michael P, Högler, Wolfgang

“…Abstract Pyridoxine-responsive seizures (PRS) and the role of pyridoxine (PN, vitamin B6 ) in hypophosphatasia (HPP) are incompletely understood. Typically,…”
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Osteoprotegerin deficiency and aneurysm formation: Case report of iliac artery aneurysms in Juvenile Paget's disease by Gaston, Brandon T., Chou, Elizabeth L., Patel, Aman B., Lindsay, Mark E., Mumm, Steven, Whyte, Michael P., Mohapatra, Abhisekh

“…Juvenile Paget's disease (JPD, OMIM #239,000) is a rare heritable disorder of the skeleton usually caused by bi-allelic loss-of-function mutation(s) of the…”
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Multicentric carpotarsal osteolysis syndrome is caused by only a few domain-specific mutations in MAFB, a negative regulator of RANKL-induced osteoclastogenesis by Mumm, Steven, Huskey, Margaret, Duan, Shenghui, Wenkert, Deborah, Madson, Katherine L., Gottesman, Gary S., Nenninger, Angela R., Laxer, Ronald M., McAlister, William H., Whyte, Michael P.

“…Multicentric carpotarsal osteolysis syndrome (MCTO), an autosomal dominant disorder that often presents sporadically, features carpal–tarsal lysis frequently…”
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Dysosteosclerosis: Clinical and Radiological Evolution Reflecting Genetic Heterogeneity by Turan, Serap, Mumm, Steven, Alavanda, Ceren, Kaygusuz, Betul Sare, Gurpinar Tosun, Busra, Arman, Ahmet, Huskey, Margaret, Guran, Tulay, Duan, Shenghui, Bereket, Abdullah, Whyte, Michael P.

“…ABSTRACT Dysosteosclerosis (DSS), the term coined in 1968 for ultrarare dysplasia of the skeleton featuring platyspondyly with focal appendicular…”
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X‐Linked Hypophosphatemia Caused by the Prevailing North American PHEX Variant c.231A>G; Exon 13–15 Duplication Is Often Misdiagnosed as Ankylosing Spondylitis and Manifests in Both Men and Women by Dahir, Kathryn McCrystal, Black, Margo, Gottesman, Gary S, Imel, Erik A, Mumm, Steven, Nichols, Cindy M, Whyte, Michael P

“…ABSTRACT Inactivating mutations of the gene coding for phosphate‐regulating endopeptidase homolog X‐linked (PHEX) cause X‐linked hypophosphatemia (XLH). A…”
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Chronic Recurrent Multifocal Osteomyelitis Mimicked in Childhood Hypophosphatasia by Whyte, Michael P, Wenkert, Deborah, McAlister, William H, Mughal, M Zulf, Freemont, Anthony J, Whitehouse, Richard, Baildam, Eileen M, Coburn, Stephen P, Ryan, Lawrence M, Mumm, Steven

“…Hypophosphatasia (HPP) is the inborn error of metabolism characterized by low serum alkaline phosphatase (ALP) activity caused by inactivating mutations within…”
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Dysosteosclerosis presents as an “Osteoclast‐Poor” form of osteopetrosis: Comprehensive investigation of a 3‐year‐old girl and literature review by Whyte, Michael P, Wenkert, Deborah, McAlister, William H, Novack, Deborah V, Nenninger, Angie R, Zhang, Xiafang, Huskey, Margaret, Mumm, Steven

“…Dysosteosclerosis (DSS), an extremely rare dense bone disease, features short stature and fractures and sometimes optic atrophy, cranial nerve palsy,…”
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Auricular ossification: A newly recognized feature of osteoprotegerin-deficiency juvenile Paget disease by Gottesman, Gary S., Madson, Katherine L., McAlister, William H., Nenninger, Angela, Wenkert, Deborah, Mumm, Steven, Whyte, Michael P.

“…We report auricular ossification (AO) affecting the elastic cartilage of the ear as a newly recognized feature of osteoprotegerin (OPG)‐deficiency juvenile…”
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Marrow Cell Transplantation for Infantile Hypophosphatasia by Whyte, Michael P, Kurtzberg, Joanne, McALISTER, William H, Mumm, Steven, Podgornik, Michelle N, Coburn, Stephen P, Ryan, Lawrence M, Miller, Cindy R, Gottesman, Gary S, Smith, Alan K, Douville, Judy, Waters‐Pick, Barbara, Armstrong, R Douglas, Martin, Paul L

“…An 8‐month‐old girl who seemed certain to die from the infantile form of hypophosphatasia, an inborn error of metabolism characterized by deficient activity of…”
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Juvenile Paget's Disease: The Second Reported, Oldest Patient Is Homozygous for the TNFRSF11B “Balkan” Mutation (966_969delTGACinsCTT), Which Elevates Circulating Immunoreactive Osteoprotegerin Levels by Whyte, Michael P, Singhellakis, Panagiotis N, Petersen, Michael B, Davies, Michael, Totty, William G, Mumm, Steven

“…The oldest person (60 yr) with juvenile Paget's disease is homozygous for the TNFRSF11B mutation 966_969delTGACinsCTT. Elevated circulating levels of…”
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Denaturing Gradient Gel Electrophoresis Analysis of the Tissue Nonspecific Alkaline Phosphatase Isoenzyme Gene in Hypophosphatasia by Mumm, Steven, Jones, Jonathan, Finnegan, Patrick, Henthorn, Paula S., Podgornik, Michelle N., Whyte, Michael P.

“…Hypophosphatasia, a heritable form of rickets/osteomalacia, was first described in 1948. The biochemical hallmark, subnormal alkaline phosphatase (ALP)…”
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A Variable Domain of Delayed Replication in FRAXA Fragile X Chromosomes: X Inactivation-Like Spread of Late Replication by Hansen, R. Scott, Canfield, Theresa K., Fjeld, Alan D., Mumm, Steven, Laird, Charles D., Gartler, Stanley M.

“…The timing of DNA replication in the Xq27 portion of the human X chromosome was studied in cells derived from normal and fragile X males to further…”
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