The ABCs of the atypical Fam20 secretory pathway kinases

CA Worby, JE Mayfield, AJ Pollak, JE Dixon… - Journal of Biological …, 2021 - ASBMB
The study of extracellular phosphorylation was initiated in late 19th century when the
secreted milk protein, casein, and egg-yolk protein, phosvitin, were shown to be …

Two new families with enamel renal syndrome: A novel FAM20A gene mutation and review of literature

NF Hassib, MA Shoeib, HA ElSadek, ME Wali… - European Journal of …, 2020 - Elsevier
Enamel renal syndrome (ERS) or so-called amelogenesis imperfecta type IG is a very rare
disorder characterized by the triad of amelogenesis imperfecta, gingival enlargement and …

Enamel renal syndrome: A novel homozygous FAM20A founder mutation in 5 new Brazilian families

MR Dourado, CRR Dos Santos, S Dumitriu… - European Journal of …, 2019 - Elsevier
Enamel renal syndrome (ERS) is a rare autosomal recessive disorder not fully
characterized. Here we investigated ERS characteristics in 11 patients from 5 Brazilian …

Lack of FAM20A, ectopic gingival mineralization and chondro/osteogenic modifications in enamel renal syndrome

V Simancas Escorcia, A Diarra, A Naveau… - Frontiers in cell and …, 2020 - frontiersin.org
Enamel renal syndrome (ERS) is a rare recessive disorder caused by loss-of-function
mutations in FAM20A (family with sequence similarity 20 member A, OMIM# 611062) …

Pathogenesis of enamel-renal syndrome associated gingival fibromatosis: A proteomic approach

V Simancas Escorcia, C Guillou, L Abbad… - Frontiers in …, 2021 - frontiersin.org
The enamel renal syndrome (ERS) is a rare disorder featured by amelogenesis imperfecta,
gingival fibromatosis and nephrocalcinosis. ERS is caused by bi-allelic mutations in the …

Syndromes with gingival fibromatosis: A systematic review

CRR Costa, SV Braz, IP de Toledo… - Oral …, 2021 - Wiley Online Library
Objective The aim of systematic review was to describe the phenotypes and molecular
profiles of syndromes with gingival fibromatosis (GF). Methods A comprehensive search of …

[HTML][HTML] Epithelial-specific deletion of FAM20A leads to short root defects

L Liu, L Yao, Z Lu, L Jiang, X Zhang, X Liu, W Zhang… - Gene, 2023 - Elsevier
Abstract Short Root Defects defined by a reduced ratio of root to crown, may culminate in
root resorption and subsequent tooth loss, in spite of the absence of apparent symptoms …

[PDF][PDF] Caracterización fenotípica del síndrome amelogénesis imperfecta–nefrocalcinosis: una revisión

V Simancas-Escorcia, A Berdal… - …, 2019 - revistas.unimagdalena.edu.co
Resumen La Amelogénesis Imperfecta (AI) es alteración de la estructura y apariencia del
esmalte dental de origen genético, puede presentarse como defecto aislado o sistémico. El …

Enamel renal syndrome: A case report with calcifications in pulp, gingivae, dental follicle and kidneys

R Khalifa, R Kammoun, L Mansour… - Special Care in …, 2024 - Wiley Online Library
Background Enamel renal syndrome is a rare genetic disorder transmitted through an
autosomal recessive mode. It is featured by a hypoplastic amelogenesis imperfecta, delayed …

[HTML][HTML] Association of innate and acquired aerobic capacity with resilience in healthy adults: protocol for a randomized controlled trial of an 8-week web-based …

DT Ochmann, KFA Philippi, P Zeier… - JMIR Research …, 2021 - researchprotocols.org
Background: Physical activity alleviates chronic stress. The latest research suggests a
relationship between resilience and physical fitness. Beneficial adaptations of the …