دورية أكاديمية
The Radiological and Histological Phenotype of Skeletal Abnormalities in Fetal ARCN1 -Related Syndrome.
| العنوان: | The Radiological and Histological Phenotype of Skeletal Abnormalities in Fetal ARCN1 -Related Syndrome. |
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| المؤلفون: | Houck CA; Department of Pathology, University Medical Center Utrecht, Utrecht, The Netherlands., Koopmans M; Department of Clinical Genetics, University Medical Center Utrecht, Utrecht, The Netherlands., Nikkels PGJ; Department of Pathology, University Medical Center Utrecht, Utrecht, The Netherlands. |
| المصدر: | Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society [Pediatr Dev Pathol] 2024 Mar-Apr; Vol. 27 (2), pp. 176-180. Date of Electronic Publication: 2023 Dec 03. |
| نوع المنشور: | Journal Article |
| اللغة: | English |
| بيانات الدورية: | Publisher: SAGE Publishing Country of Publication: United States NLM ID: 9809673 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1615-5742 (Electronic) Linking ISSN: 10935266 NLM ISO Abbreviation: Pediatr Dev Pathol Subsets: MEDLINE |
| أسماء مطبوعة: | Publication: 2017-: Thousand Oaks, CA : SAGE Publishing Original Publication: New York, NY : Springer, c1998- |
| مواضيع طبية MeSH: | Collagen*/metabolism , Fetus*/metabolism , Coatomer Protein*/genetics , Musculoskeletal Abnormalities*/diagnostic imaging , Musculoskeletal Abnormalities*/genetics, Humans ; Mutation ; Phenotype ; Syndrome ; Congenital Abnormalities/genetics ; Developmental Disabilities/diagnostic imaging ; Developmental Disabilities/genetics |
| مستخلص: | Mutations in ARCN1 give rise to a syndromic disorder with rhizomelic short stature with microretrognathia and developmental delay. ARCN1 encodes the delta subunit of the coat protein I complex, which is required for intracellular trafficking of collagen 1 and which may also be involved in the endoplasmic reticulum (ER) stress response. In this paper we describe for the first time the skeletal histological abnormalities in an 18-week-old fetus with an ARCN1 mutation, and we suggest that the skeletal phenotype in ARCN1 -related syndrome has more resemblance with ER stress than with a defect in collagen 1 metabolism. Competing Interests: Declaration of Conflicting InterestsThe authors declared no potential conflicts of interest with respect to the research, authorship, and/or publication of this article. |
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| فهرسة مساهمة: | Keywords: autopsy; congenital anomaly; fetal; skeletal dysplasia |
| المشرفين على المادة: | 9007-34-5 (Collagen) 0 (Coatomer Protein) |
| تواريخ الأحداث: | Date Created: 20231203 Date Completed: 20240415 Latest Revision: 20240425 |
| رمز التحديث: | 20240425 |
| مُعرف محوري في PubMed: | PMC11015707 |
| DOI: | 10.1177/10935266231213785 |
| PMID: | 38044464 |
| قاعدة البيانات: | MEDLINE |
Full Text Finder | تدمد: | 1615-5742 |
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| DOI: | 10.1177/10935266231213785 |