Matches in SemOpenAlex for { <https://semopenalex.org/work/W4317107498> ?p ?o ?g. }
Showing items 1 to 100 of
100
with 100 items per page.
- W4317107498 abstract "To identify etiologic variants and perform deep dental phenotyping in patients with amelogenesis imperfecta (AI).Three patients of two unrelated families were evaluated. Genetic variants were investigated by exome and Sanger sequencing. An unerupted permanent third molar (AI1) from Patient1 and a deciduous first molar (AI2) from Patient2, along with three tooth-type matched controls for each were characterized.All three patients harbored biallelic pathogenic variants in FAM20A, indicating AI1G. Of the four identified variants, one, c.1231C > T p.(Arg411Trp), was novel. Patient1 possessed the largest deletion, 7531 bp, ever identified in FAM20A. In addition to hypoplastic enamel, multiple impacted teeth, intrapulpal calcification, pericoronal radiolucencies, malocclusion, and periodontal infections were found in all three patients, gingival hyperplasia in Patient1 and Patient2, and alveolar bone exostosis in Patient3. Surface roughness was increased in AI1 but decreased in AI2. Decreased enamel mineral density, hardness, and elastic modulus were observed in AI1 enamel and dentin and AI2 dentin, along with decreased phosphorus, increased carbon, and increased calcium/phosphorus and carbon/oxygen ratios. Severely collapsed enamel rods and disorganized dentin-enamel junction were observed.We report a novel FAM20A variant and, for the first time, the defective mineral composition and physical/mechanical properties of AI1G teeth." @default.
- W4317107498 created "2023-01-18" @default.
- W4317107498 creator A5013487982 @default.
- W4317107498 creator A5023898955 @default.
- W4317107498 creator A5059599966 @default.
- W4317107498 creator A5062898161 @default.
- W4317107498 creator A5067245002 @default.
- W4317107498 creator A5073462597 @default.
- W4317107498 creator A5084819749 @default.
- W4317107498 date "2023-02-05" @default.
- W4317107498 modified "2023-10-16" @default.
- W4317107498 title "Deep dental phenotyping and a novel <i>FAM20A</i> variant in patients with amelogenesis imperfecta type IG" @default.
- W4317107498 cites W1802212168 @default.
- W4317107498 cites W1981542275 @default.
- W4317107498 cites W1999892434 @default.
- W4317107498 cites W2002611021 @default.
- W4317107498 cites W2006157576 @default.
- W4317107498 cites W2006445979 @default.
- W4317107498 cites W2010595044 @default.
- W4317107498 cites W2013677940 @default.
- W4317107498 cites W2034286878 @default.
- W4317107498 cites W2051978340 @default.
- W4317107498 cites W2065809302 @default.
- W4317107498 cites W2069575842 @default.
- W4317107498 cites W2109825944 @default.
- W4317107498 cites W2122768541 @default.
- W4317107498 cites W2162151166 @default.
- W4317107498 cites W2417475234 @default.
- W4317107498 cites W2435596766 @default.
- W4317107498 cites W2596440320 @default.
- W4317107498 cites W2606146960 @default.
- W4317107498 cites W2610448830 @default.
- W4317107498 cites W2767350234 @default.
- W4317107498 cites W2793374471 @default.
- W4317107498 cites W2801866793 @default.
- W4317107498 cites W2898449690 @default.
- W4317107498 cites W2920872597 @default.
- W4317107498 cites W2949857618 @default.
- W4317107498 cites W3081346745 @default.
- W4317107498 cites W3106811464 @default.
- W4317107498 cites W3119101268 @default.
- W4317107498 cites W3197765255 @default.
- W4317107498 cites W3216946341 @default.
- W4317107498 cites W4296007226 @default.
- W4317107498 doi "https://doi.org/10.1111/odi.14510" @default.
- W4317107498 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/36650945" @default.
- W4317107498 hasPublicationYear "2023" @default.
- W4317107498 type Work @default.
- W4317107498 citedByCount "5" @default.
- W4317107498 countsByYear W43171074982023 @default.
- W4317107498 crossrefType "journal-article" @default.
- W4317107498 hasAuthorship W4317107498A5013487982 @default.
- W4317107498 hasAuthorship W4317107498A5023898955 @default.
- W4317107498 hasAuthorship W4317107498A5059599966 @default.
- W4317107498 hasAuthorship W4317107498A5062898161 @default.
- W4317107498 hasAuthorship W4317107498A5067245002 @default.
- W4317107498 hasAuthorship W4317107498A5073462597 @default.
- W4317107498 hasAuthorship W4317107498A5084819749 @default.
- W4317107498 hasConcept C105702510 @default.
- W4317107498 hasConcept C142724271 @default.
- W4317107498 hasConcept C156887251 @default.
- W4317107498 hasConcept C185592680 @default.
- W4317107498 hasConcept C199343813 @default.
- W4317107498 hasConcept C202271784 @default.
- W4317107498 hasConcept C2779263046 @default.
- W4317107498 hasConcept C2780178515 @default.
- W4317107498 hasConcept C2780309369 @default.
- W4317107498 hasConcept C29694066 @default.
- W4317107498 hasConcept C71924100 @default.
- W4317107498 hasConceptScore W4317107498C105702510 @default.
- W4317107498 hasConceptScore W4317107498C142724271 @default.
- W4317107498 hasConceptScore W4317107498C156887251 @default.
- W4317107498 hasConceptScore W4317107498C185592680 @default.
- W4317107498 hasConceptScore W4317107498C199343813 @default.
- W4317107498 hasConceptScore W4317107498C202271784 @default.
- W4317107498 hasConceptScore W4317107498C2779263046 @default.
- W4317107498 hasConceptScore W4317107498C2780178515 @default.
- W4317107498 hasConceptScore W4317107498C2780309369 @default.
- W4317107498 hasConceptScore W4317107498C29694066 @default.
- W4317107498 hasConceptScore W4317107498C71924100 @default.
- W4317107498 hasFunder F4320321557 @default.
- W4317107498 hasFunder F4320322817 @default.
- W4317107498 hasFunder F4320326599 @default.
- W4317107498 hasLocation W43171074981 @default.
- W4317107498 hasLocation W43171074982 @default.
- W4317107498 hasOpenAccess W4317107498 @default.
- W4317107498 hasPrimaryLocation W43171074981 @default.
- W4317107498 hasRelatedWork W2038564597 @default.
- W4317107498 hasRelatedWork W2072237828 @default.
- W4317107498 hasRelatedWork W2088492992 @default.
- W4317107498 hasRelatedWork W2109240454 @default.
- W4317107498 hasRelatedWork W2297491659 @default.
- W4317107498 hasRelatedWork W2405328949 @default.
- W4317107498 hasRelatedWork W2417491401 @default.
- W4317107498 hasRelatedWork W2419063716 @default.
- W4317107498 hasRelatedWork W3021589997 @default.
- W4317107498 hasRelatedWork W3127114300 @default.
- W4317107498 isParatext "false" @default.
- W4317107498 isRetracted "false" @default.
- W4317107498 workType "article" @default.