Amelogenesis imperfecta; genes, proteins, and pathways

CEL Smith, JA Poulter, A Antanaviciute… - Frontiers in …, 2017 - frontiersin.org
Amelogenesis imperfecta (AI) is the name given to a heterogeneous group of conditions
characterized by inherited developmental enamel defects. AI enamel is abnormally thin, soft …

Functions and regulation of the serine/threonine protein kinase CK1 family: moving beyond promiscuity

LJ Fulcher, GP Sapkota - Biochemical Journal, 2020 - portlandpress.com
Regarded as constitutively active enzymes, known to participate in many, diverse biological
processes, the intracellular regulation bestowed on the CK1 family of serine/threonine …

Mutations in the beta propeller WDR72 cause autosomal-recessive hypomaturation amelogenesis imperfecta

W El-Sayed, DA Parry, RC Shore, M Ahmed… - The American Journal of …, 2009 - cell.com
Healthy dental enamel is the hardest and most highly mineralized human tissue. Though
acellular, nonvital, and without capacity for turnover or repair, it can nevertheless last a …

Target gene analyses of 39 amelogenesis imperfecta kindreds

HC Chan, NMRP Estrella, RN Milkovich… - European journal of …, 2011 - Wiley Online Library
Chan H‐C, Estrella NMRP, Milkovich RN, Kim J‐W, Simmer JP, Hu JC‐C. Target gene
analyses of 39 amelogenesis imperfecta kindreds. Eur J Oral Sci 2011; 119 (Suppl. 1): 311 …

Molecular‐based phenotype variations in amelogenesis imperfecta

J Dong, W Ruan, X Duan - Oral Diseases, 2023 - Wiley Online Library
Amelogenesis imperfecta (AI) is one of the typical dental genetic diseases in human. It can
occur isolatedly or as part of a syndrome. Previous reports have mainly clarified the types …

FAM83H and Autosomal Dominant Hypocalcified Amelogenesis Imperfecta

SK Wang, H Zhang, CY Hu, JF Liu… - Journal of Dental …, 2021 - journals.sagepub.com
Autosomal dominant hypocalcified amelogenesis imperfecta (ADHCAI; OMIM# 130900) is a
genetic disorder exhibiting severe hardness defects and reduced fracture toughness of …

Phenotypic Variation in FAM83H-associated Amelogenesis Imperfecta

JT Wright, S Frazier-Bowers… - Journal of dental …, 2009 - journals.sagepub.com
FAM83H gene mutations are associated with autosomal-dominant hypocalcified
amelogenesis imperfecta (ADHCAI), which is typically characterized by enamel having …

Defining a new candidate gene for amelogenesis imperfecta: from molecular genetics to biochemistry

B Urzúa, A Ortega-Pinto, I Morales-Bozo… - Biochemical …, 2011 - Springer
Amelogenesis imperfecta is a group of genetic conditions that affect the structure and clinical
appearance of tooth enamel. The types (hypoplastic, hypocalcified, and hypomature) are …

Fam83h null mice support a neomorphic mechanism for human ADHCAI

SK Wang, Y Hu, J Yang, CE Smith… - Molecular genetics & …, 2016 - Wiley Online Library
Truncation mutations in FAM 83H (family with sequence similarity 83, member H) cause
autosomal dominant hypocalcified amelogenesis imperfecta (ADHCAI), but little is known …

FAM83H Mutations Cause ADHCAI and Alter Intracellular Protein Localization

SK Lee, KE Lee, TS Jeong, YH Hwang… - Journal of dental …, 2011 - journals.sagepub.com
Mutations in a family with sequence similarity 83 member H (FAM83H) cause autosomal-
dominant hypocalcification amelogenesis imperfecta (ADH CAI). All FAM83H ADHCAI …