Disease: Raine syndrome
- A case of Raine syndrome presenting with facial dysmorphy and review of literature
- A case of severe cutaneous and mucosal erosions
- A new case of bent bone dysplasia--FGFR2 type and review of the literature
- A novel FAM20C mutation causes a rare form of neonatal lethal Raine syndrome
- A novel FAM20C mutation causing hypophosphatemic osteomalacia with osteosclerosis (mild Raine syndrome) in an elderly man with spontaneous osteonecrosis of the knee
- A preliminary investigation into the early embryo death syndrome (EEDS) at the world's largest green turtle rookery
- A Rare Cause of Hypophosphatemia: Raine Syndrome Changing Clinical Features with Age
- Adaptations to the British Society of Gastroenterology guidelines on the management of acute severe UC in the context of the COVID-19 pandemic: a RAND appropriateness panel
- Adverse metabolic phenotype of adolescent girls with non-alcoholic fatty liver disease plus polycystic ovary syndrome compared with other girls and boys
- Age at menarche and childhood body mass index as predictors of cardio-metabolic risk in young adulthood: A prospective cohort study
- Altered sulfation status of FAM20C-dependent chondroitin sulfate is associated with osteosclerotic bone dysplasia
- Ancestral roles of the Fam20C family of secreted protein kinases revealed in <em>C. elegans</em>
- ApoB48-Lipoproteins Are Associated with Cardiometabolic Risk in Adolescents with and without Polycystic Ovary Syndrome
- ApoB48-remnant lipoproteins are associated with increased cardiometabolic risk in adolescents
- Are serum ferritin and transferrin saturation risk markers for restless legs syndrome in young adults? Longitudinal and cross-sectional data from the Western Australian Pregnancy Cohort (Raine) Study
- Association between remnant lipoprotein cholesterol levels and non-alcoholic fatty liver disease in adolescents
- Associations between Prenatal Exposure to Phthalates and Features of the Metabolic Syndrome in Males from Childhood into Adulthood
- Baseline characteristics of patients with atypical haemolytic uraemic syndrome (aHUS): The Australian cohort in a global aHUS registry
- Canine models of human rare disorders
- Carbonic anhydrase II deficiency
- Compound heterozygous <em>FAM20C</em> gene variants in a patient with severe Raine syndrome: a case report
- Compound heterozygous FAM20C gene variants in a patient with severe Raine syndrome: a case report
- Concurrent developmental course of sleep problems and emotional/behavioral problems in childhood and adolescence as reflected by the dysregulation profile
- Constructing multifunctional Cu Single-Atom nanozyme for synergistic nanocatalytic Therapy-Mediated Multidrug-Resistant bacteria infected wound healing
- Cover Image, Volume 176A, Number 3, March 2018
- Crystal structure of the Golgi casein kinase
- Dynamic regulation of FGF23 by Fam20C phosphorylation, GalNAc-T3 glycosylation, and furin proteolysis
- Effect of high phosphate diet on the formation of dentin in Fam20c-deficient mice
- Elucidating the clinical spectrum and molecular basis of HYAL2 deficiency
- Energy drink intake and metabolic syndrome: A prospective investigation in young adults
- Entrapment neuropathies: a contemporary approach to pathophysiology, clinical assessment, and management
- Epidemiologic and Genomic Analysis of the Severe Acute Respiratory Syndrome Coronavirus 2 Epidemic in the Nebraska Region of the United States, March 2020-2021
- Evidence for Thalamic Responsive Neurostimulation in Treatment of Adult and Pediatric Epilepsy
- FAM20A binds to and regulates FAM20C localization
- FAM20C functions intracellularly within both ameloblasts and odontoblasts in vivo
- Fam20C in Human Diseases: Emerging Biological Functions and Therapeutic Implications
- FAM20C Overview: Classic and Novel Targets, Pathogenic Variants and Raine Syndrome Phenotypes
- FAM20C plays a critical role in the development of mouse vertebra
- Features of the metabolic syndrome in late adolescence are associated with impaired testicular function at 20 years of age
- Fetal ultrasonographic findings including cerebral hyperechogenicity in a patient with non-lethal form of Raine syndrome
- Functional analysis of mutant FAM20C in Raine syndrome with FGF23-related hypophosphatemia
- Gingival proteomics reveals the role of TGF beta and YAP/TAZ signaling in Raine syndrome fibrosis
- Hereditary deletion of the entire FAM20C gene in a patient with Raine syndrome
- Hypophosphataemic Rickets Secondary to Raine Syndrome: A Review of the Literature and Case Reports of Three Paediatric Patients' Dental Management
- Hypophosphatemic osteomalacia and bone sclerosis caused by a novel homozygous mutation of the FAM20C gene in an elderly man with a mild variant of Raine syndrome
- Identifying young adults at high risk of cardiometabolic disease using cluster analysis and the Framingham 30-yr risk score
- In utero exposure to maternal stressful life events and risk of polycystic ovary syndrome in the offspring: The Raine Study
- Inactivation of a novel FGF23 regulator, FAM20C, leads to hypophosphatemic rickets in mice
- Insomnia and workplace productivity loss among young working adults: a prospective observational study of clinical sleep disorders in a community cohort
- Integrated Social- and Neurocognitive Model of Physical Activity Behavior in Older Adults with Metabolic Disease
- Intoxication of antibiotic persisters by host RNS inactivates their efflux machinery during infection
- Intracranial calcification in Fam20c-deficient mice recapitulates human Raine syndrome
- Methods to Purify and Assay Secretory Pathway Kinases
- Molecular Characterization of Three Canine Models of Human Rare Bone Diseases: Caffey, van den Ende-Gupta, and Raine Syndromes
- Multi-modal single cell sequencing of B cells in primary Sjögren's Syndrome
- Musculoskeletal pain is associated with restless legs syndrome in young adults
- Mutations of family with sequence similarity 20-member C gene causing lethal and nonlethal Raine syndrome causes hypophosphatemia rickets
- Natural history of non-lethal Raine syndrome during childhood
- Non lethal Raine syndrome and differential diagnosis
- Non-lethal Raine Syndrome in a Middle-Aged Woman Caused by a Novel FAM20C Mutation
- Non-lethal Raine Syndrome Report Lacking Characteristic Clinical Features
- Nonlethal Raine Syndrome in a Newborn Boy Caused by a Novel <em>FAM20C</em> Variant
- Nonlethal Raine Syndrome in a Newborn Boy Caused by a Novel FAM20C Variant
- Normative cut-offs for polycystic ovary syndrome diagnostic features in adolescents using cluster analysis
- Osteosclerotic bone dysplasia in siblings with a Fam20C mutation
- Paratrabecular bone marrow involvement in autoimmune lymphoproliferative syndrome: a potential diagnostic pitfall as a lymphoma mimic
- Periodic limb movements during sleep: a narrative review
- Potential Role of Protein Kinase FAM20C on the Brain in Raine Syndrome, an In Silico Analysis
- Predicting sleep apnea from three-dimensional face photography
- Prenatal sonographic phenotype of Raine syndrome: detection of novel FAM20C gene mutation at 20 weeks
- Prevalence of common sleep disorders in a middle-aged community sample
- Raine syndrome
- Raine syndrome
- Raine Syndrome (OMIM #259775), Caused By FAM20C Mutation, Is Congenital Sclerosing Osteomalacia With Cerebral Calcification (OMIM 259660)
- Raine Syndrome, a Rare Lethal Osteosclerotic Bone Dysplasia: Prenatal Diagnosis With 3-Dimensional Ultrasound and a Postnatal Clinical Exome Evaluation
- Raine syndrome: an overview
- Raine syndrome: expanding the radiological spectrum
- Raine syndrome: Prenatal diagnosis based on recognizable fetal facial features and characteristic intracranial calcification
- Raine syndrome: Prenatally identified severe craniofacial phenotype with multisuture synostosis and brain abnormalities associated with variants in FAM20C
- Raine syndrome: Report of a novel mutation and review of the different antenatal imaging modalities used to diagnose this disease
- Recurrent variant c.1680C>A in FAM20C gene and genotype-phenotype correlation in a patient with Raine syndrome: a case report
- Recurrent variant c.1680C>A in FAM20C gene and genotype-phenotype correlation in a patient with Raine syndrome: a case report
- Redox Implications of Extreme Task Performance: The Case in Driver Athletes
- Report of a case of Raine syndrome and literature review
- Rethinking pityriasis rubra pilaris as a paraneoplastic syndrome: Two cases of pityriasis rubra pilaris with concomitant underlying malignancy
- Secreted kinase phosphorylates extracellular proteins that regulate biomineralization
- Severe gangrene in a patient with anti-RNP positive limited cutaneous systemic sclerosis/rheumatoid arthritis overlap syndrome caused by vasculopathy and vasculitis
- Sex differences in the association of phospholipids with components of the metabolic syndrome in young adults
- Specific ablation of mouse Fam20C in cells expressing type I collagen leads to skeletal defects and hypophosphatemia
- The ABCs of the atypical Fam20 secretory pathway kinases
- The odontoblastic differentiation of dental mesenchymal stem cells: molecular regulation mechanism and related genetic syndromes
- The prevalence of common sleep disorders in young adults: a descriptive population-based study
- The Raine syndrome protein FAM20C is a Golgi kinase that phosphorylates bio-mineralization proteins
- The secretory pathway kinases
- Two microbiota subtypes identified in irritable bowel syndrome with distinct responses to the low FODMAP diet
- Two Novel <em>FAM20C</em> Variants in A Family with Raine Syndrome
- Two Novel FAM20C Variants in A Family with Raine Syndrome
- Updated adolescent diagnostic criteria for polycystic ovary syndrome: impact on prevalence and longitudinal body mass index trajectories from birth to adulthood
- Variability of systemic and oro-dental phenotype in two families with non-lethal Raine syndrome with FAM20C mutations
- Working (longer than) 9 to 5: are there cardiometabolic health risks for young Australian workers who report longer than 38-h working weeks?