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Dental Abnormalities in Schimke Immuno-osseous Dysplasia
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نویسنده
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morimoto m. ,kérourédan o. ,gendronneau m. ,shuen c. ,baradaran-heravi a. ,asakura y. ,basiratnia m. ,bogdanović r. ,bonneau d. ,buck a. ,charrow j. ,cochat p. ,dehaai k.a. ,fenkçi m.s. ,frange p. ,fründ s. ,fryssira h. ,keller k. ,kirmani s. ,kobelka c. ,kohler k. ,lewis d.b. ,massella l. ,mcleod d.r. ,milford d.v. ,nobili f. ,olney a.h. ,semerci c.n. ,stajić n. ,stein a. ,taque s. ,zonana j. ,lücke t. ,hendson g. ,bonnaure-mallet m. ,boerkoel c.f.
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منبع
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journal of dental research - 2012 - دوره : 91 - شماره : 7_suppl - صفحه:S29 -S37
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چکیده
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Described for the first time in 1971,schimke immuno-osseous dysplasia (siod) is an autosomal-recessive multisystem disorder that is caused by bi-allelic mutations of smarcal1,which encodes a dna annealing helicase. to define better the dental anomalies of siod,we reviewed the records from siod patients with identified bi-allelic smarcal1 mutations,and we found that 66.0% had microdontia,hypodontia,or malformed deciduous and permanent molars. immunohistochemical analyses showed expression of smarcal1 in all developing teeth,raising the possibility that the malformations are cell-autonomous consequences of smarcal1 deficiency. we also found that stimulation of cultured skin fibroblasts from siod patients with the tooth morphogens wnt3a,bmp4,and tgfãžâ²1 identified altered transcriptional responses,raising the hypothesis that the dental malformations arise in part from altered responses to developmental morphogens. to the best of our knowledge,this is the first systematic study of the dental anomalies associated with siod. © 2012,international & american associations for dental research. all rights reserved.
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کلیدواژه
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cell signaling; hypodontia; microdontia; molar root hypoplasia; SMARCAL1; tooth morphogenesis
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آدرس
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department of medical genetics,child and family research institute,university of british columbia,vancouver,bc,canada,rare disease foundation,vancouver,bc, Canada, université européenne de bretagne,université de rennes 1,centre hospitalier universitaire de rennes,rennes, France, université européenne de bretagne,université de rennes 1,centre hospitalier universitaire de rennes,rennes, France, department of medical genetics,child and family research institute,university of british columbia,vancouver,bc,canada,rare disease foundation,vancouver,bc, Canada, department of medical genetics,child and family research institute,university of british columbia,vancouver,bc,canada,rare disease foundation,vancouver,bc, Canada, department of endocrinology and metabolism,kanagawa children's medical center,yokohama, Japan, department of pediatric nephrology,nephro-urology research center,shiraz university of medical sciences,shiraz, ایران, institute of mother and child healthcare,belgrade, Serbia, département de génétique,centre hopitalier,universitaire d'angers,angers, France, medizinische hochschule hannover,kinderklinik,hannover, Germany, children's memorial hospital,chicago,il, United States, service de pédiatrie,centre de référence des maladies rénales rares,hospices civils de lyon and université de lyon,lyon, France, department of pediatrics,munroe-meyer institute for genetics & rehabilitation,university of nebraska medical center,omaha,ne, United States, department of internal medicine,division of endocrinology and metabolism,cerrahi hospital,denizli, Turkey, pediatric immunology & hematology unit,necker hospital,paris, France, department of general pediatrics,pediatric nephrology,university children's hospital,münster, Germany, department of medical genetics,aghia sophia children's hospital,athens university medical school,athens, United States, oregon institute on disability & development,child development and rehabilitation center,oregon health & science university,portland,or, United States, department of medical genetics,mayo clinic,rochester,mn, United States, genetics department,kaiser permanente medical group,san francisco,ca, United States, park dental ridges,burnsville,mn, United States, department of pediatrics,immunology program,institute for immunity,transplantation,and infection,stanford university,palo alto,ca, United States, divison of nephrology,bambino gesù children's hospital,research institute,rome, Italy, department of medical genetics,alberta children's hospital,calgary,alberta, Canada, department of nephrology,birmingham children's hospital,birmingham, United Kingdom, service de néphrologie pédiatrique,centre hospitalier universitaire de besançon,besançon, France, department of pediatrics,munroe-meyer institute for genetics & rehabilitation,university of nebraska medical center,omaha,ne, United States, department of medical genetics,pamukkale university hospital,denizli, Turkey, institute of mother and child healthcare,belgrade, Serbia, department of pediatrics,university children's hospital essen,essen, Germany, département de pédiatrie,centre hospitalier,universitaire de fontenoy,rennes, France, oregon institute on disability & development,child development and rehabilitation center,oregon health & science university,portland,or, United States, department of neuropediatrics,children's hospital,ruhr-university bochum,bochum, Germany, rare disease foundation,vancouver,bc,canada,department of anatomic pathology,university of british columbia,children's and women's health centre of british columbia,vancouver,bc, Canada, université européenne de bretagne,université de rennes 1,centre hospitalier universitaire de rennes,rennes, France, department of medical genetics,child and family research institute,university of british columbia,vancouver,bc,canada,rare disease foundation,vancouver,bc, Canada
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Authors
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