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ey0016.5-6 | New Insight into Rare Skeletal Disorders | ESPEYB16

5.6. Gain-of-function mutation of microRNA-140 in human skeletal dysplasia

G Grigelioniene , HI Suzuki , F Taylan , F Mirzamohammadi , ZU Borochowitz , UM Ayturk , S Tzur , E Horemuzova , A Lindstrand , MA Weis , G Grigelionis , A Hammarsjo , E Marsk , A Nordgren , M Nordenskjold , DR Eyre , ML Warman , G Nishimura , PA Sharp , T Kobayashi

Abstract: Nat Med. 2019 Apr;25(4):583590. PMID: 30804514In brief: This study describes the first skeletal dysplasia caused by a mutation in a microRNA that is not simply inactivating, but modifies the repertoire of target genes.Comment: MicroRNAs (miRNAs) are small (2024 nucleotides) noncoding RNA molecules that post-transcriptio...

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ey0020.3-8 | Advances in Clinical Practice | ESPEYB20

3.8. Nosology of genetic skeletal disorders: 2023 revision

S Unger , CR Ferreira , GR Mortier , H Ali , DR Bertola , A Calder , DH Cohn , V Cormier-Daire , KM Girisha , C Hall , D Krakow , O Makitie , S Mundlos , G Nishimura , SP Robertson , R Savarirayan , D Sillence , M Simon , VR Sutton , ML Warman , A Superti-Furga

In Brief: The 11th edition of the Nosology is significantly expanded, now covering 771 conditions linked to 552 genes. In a major shift from previous editions, it has adopted a dyadic naming system that defines disorders based on both their phenotypic and genetic features. It continues to be a vital tool for diagnosing and communicating about genetic skeletal disorders.Commentary: The first Nosology of genetic skeletal disorders was published...

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ESPE Yearbook of Paediatric Endocrinology

5.6. Gain-of-function mutation of microRNA-140 in human skeletal dysplasia

3.8. Nosology of genetic skeletal disorders: 2023 revision

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