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A neomorphic variant in SP7 alters sequence specificity and causes a high-turnover bone disorder.
Lui, Julian C; Raimann, Adalbert; Hojo, Hironori; Dong, Lijin; Roschger, Paul; Kikani, Bijal; Wintergerst, Uwe; Fratzl-Zelman, Nadja; Jee, Youn Hee; Haeusler, Gabriele; Baron, Jeffrey.
Affiliation
  • Lui JC; Section on Growth and Development, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD, USA. luichunk@mail.nih.gov.
  • Raimann A; Department of Pediatrics and Adolescent Medicine, Division of Pediatric Pulmonology, Allergology and Endocrinology, Medical University of Vienna, Vienna, Austria.
  • Hojo H; Vienna Bone and Growth Center, Vienna, Austria.
  • Dong L; Center for Disease and Integrative Medicine, University of Tokyo, Tokyo, Japan.
  • Roschger P; Genetic Engineering Core, National Eye Institute, National Institute of Health, Bethesda, MD, USA.
  • Kikani B; Ludwig Boltzmann Institute of Osteology at the Hanusch Hospital of OEGK and AUVA Trauma Centre Meidling, 1st Medical Department, Hanusch Hospital, Vienna, Austria.
  • Wintergerst U; Section on Growth and Development, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD, USA.
  • Fratzl-Zelman N; Department of Pediatrics, Hospital of Braunau, Braunau, Austria.
  • Jee YH; Vienna Bone and Growth Center, Vienna, Austria.
  • Haeusler G; Ludwig Boltzmann Institute of Osteology at the Hanusch Hospital of OEGK and AUVA Trauma Centre Meidling, 1st Medical Department, Hanusch Hospital, Vienna, Austria.
  • Baron J; Section on Growth and Development, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD, USA.
Nat Commun ; 13(1): 700, 2022 02 04.
Article in En | MEDLINE | ID: mdl-35121733
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Bone and Bones / Bone Diseases / Gene Expression Regulation / Sp7 Transcription Factor / Mutation Type of study: Etiology_studies / Prognostic_studies Limits: Animals / Child / Humans / Male Language: En Journal: Nat Commun Journal subject: BIOLOGIA / CIENCIA Year: 2022 Document type: Article Affiliation country: Country of publication:
Fulltext
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Bone and Bones / Bone Diseases / Gene Expression Regulation / Sp7 Transcription Factor / Mutation Type of study: Etiology_studies / Prognostic_studies Limits: Animals / Child / Humans / Male Language: En Journal: Nat Commun Journal subject: BIOLOGIA / CIENCIA Year: 2022 Document type: Article Affiliation country: Country of publication: