4.7 Review

FAM20C Overview: Classic and Novel Targets, Pathogenic Variants and Raine Syndrome Phenotypes

Related references

Note: Only part of the references are listed.
Article Engineering, Biomedical

Multiple Pathways for Pathological Calcification in the Human Body

Netta Vidavsky et al.

Summary: Biomineralization of skeletal components occurs under strict cellular regulation, producing mineral-organic composites optimized for their function. Pathological mineralization, driven by tissue abnormalities or disease, can have harmful health effects.

ADVANCED HEALTHCARE MATERIALS (2021)

Article Pediatrics

Recurrent variant c.1680C>A in FAM20C gene and genotype-phenotype correlation in a patient with Raine syndrome: a case report

Shruti Bajaj et al.

Summary: Raine syndrome is a rare genetic disorder caused by bi-allelic mutations in the FAM20C gene, leading to neonatal or early infancy death. However, recent cases have shown extended lifespan and high phenotypic heterogeneity. The identified variant in the present case has been reclassified as likely pathogenic, providing further evidence towards understanding the genotype-phenotype correlation in RS.

BMC PEDIATRICS (2021)

Article Genetics & Heredity

Nonlethal Raine Syndrome in a Newborn Boy Caused by a Novel FAM20C Variant

Nazan Eras et al.

Summary: A novel homozygous variant in the FAM20C gene was identified in this study, expanding the spectrum of nonlethal Raine syndrome phenotype and contributing to a better understanding of how these disorders develop and progress, which is particularly valuable for rare diseases where information is limited.

MOLECULAR SYNDROMOLOGY (2021)

Article Biochemistry & Molecular Biology

Proprotein convertase 7 (PCSK7) reduces apoA-V levels

Yahya Ashraf et al.

FEBS JOURNAL (2020)

Article Endocrinology & Metabolism

A Rare Cause of Hypophosphatemia: Raine Syndrome Changing Clinical Features with Age

Mehmet Eltan et al.

CALCIFIED TISSUE INTERNATIONAL (2020)

Article Genetics & Heredity

Two Novel FAM20C Variants in a Family with Raine Syndrome

Araceli Hernandez-Zavala et al.

GENES (2020)

Article Genetics & Heredity

Natural history of non-lethal Raine syndrome during childhood

Chiara Mameli et al.

ORPHANET JOURNAL OF RARE DISEASES (2020)

Article Endocrinology & Metabolism

FAM20C-Mediated Phosphorylation of MEPE and Its Acidic Serine- and Aspartate-Rich Motif

Brian Christensen et al.

JBMR PLUS (2020)

Article Medicine, Research & Experimental

Loss of Fam20c causes defects in the acinar and duct structure of salivary glands in mice

Nan Miao et al.

INTERNATIONAL JOURNAL OF MOLECULAR MEDICINE (2019)

Article Anatomy & Morphology

Regional and Cellular Mapping of Sortilin Immunoreactivity in Adult Human Brain

Shu-Yin Xu et al.

FRONTIERS IN NEUROANATOMY (2019)

Article Genetics & Heredity

A novel FAM20C mutation causes a rare form of neonatal lethal Raine syndrome

Christina Y. Hung et al.

AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2019)

Review Biochemistry & Molecular Biology

Bone and connective tissue disorders caused by defects in glycosaminoglycan biosynthesis: a panoramic view

Chiara Paganini et al.

FEBS JOURNAL (2019)

Article Endocrinology & Metabolism

Non-lethal Raine Syndrome in a Middle-Aged Woman Caused by a Novel FAM20C Mutation

Elizaveta Mamedova et al.

CALCIFIED TISSUE INTERNATIONAL (2019)

Review Cell Biology

Protein quality control in the secretory pathway

Zhihao Sun et al.

JOURNAL OF CELL BIOLOGY (2019)

Article Genetics & Heredity

Nosology and classification of genetic skeletal disorders: 2019 revision

Geert R. Mortier et al.

AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2019)

Article Genetics & Heredity

Genomic study of severe fetal anomalies and discovery of GREB1L mutations in renal agenesis

Sarah Boissel et al.

GENETICS IN MEDICINE (2018)

Article Genetics & Heredity

Fetal ultrasonographic findings including cerebral hyperechogenicity in a patient with non-lethal form of Raine syndrome

Kei Tamai et al.

AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2018)

Review Genetics & Heredity

A case of Raine syndrome presenting with facial dysmorphy and review of literature

Jayesh Sheth et al.

BMC MEDICAL GENETICS (2018)

Review Medical Laboratory Technology

The multiple functions and mechanisms of osteopontin

Mehmet Arif Icer et al.

CLINICAL BIOCHEMISTRY (2018)

Article Biochemistry & Molecular Biology

Secretory kinase Fam20C tunes endoplasmic reticulum redox state via phosphorylation of Ero1 alpha

Jianchao Zhang et al.

EMBO JOURNAL (2018)

Article Biochemical Research Methods

Phosphopeptidomics Reveals Differential Phosphorylation States and Novel SxE Phosphosite Motifs of Neuropeptides in Dense Core Secretory Vesicles

Christopher B. Lietz et al.

JOURNAL OF THE AMERICAN SOCIETY FOR MASS SPECTROMETRY (2018)

Article Multidisciplinary Sciences

Biomolecular regulation, composition and nanoarchitecture of bone mineral

Atharva A. Poundarik et al.

SCIENTIFIC REPORTS (2018)

Article Biochemical Research Methods

Phosphotyrosine profiling of human cerebrospinal fluid

Gajanan Sathe et al.

CLINICAL PROTEOMICS (2018)

Article Endocrinology & Metabolism

A Mutation in the Dmp1 Gene Alters Phosphate Responsiveness in Mice

Shoji Ichikawa et al.

ENDOCRINOLOGY (2017)

Article Endocrinology & Metabolism

Raine Syndrome (OMIM #259775), Caused By FAM20C Mutation, Is Congenital Sclerosing Osteomalacia With Cerebral Calcification (OMIM 259660)

Michael P. Whyte et al.

JOURNAL OF BONE AND MINERAL RESEARCH (2017)

Article Endocrinology & Metabolism

Klotho Lacks an FGF23-Independent Role in Mineral Homeostasis

Olena Andrukhova et al.

JOURNAL OF BONE AND MINERAL RESEARCH (2017)

Article Biochemistry & Molecular Biology

Extracellular Phosphate Induces the Expression of Dentin Matrix Protein 1 Through the FGF Receptor in Osteoblasts

Jin Nishino et al.

JOURNAL OF CELLULAR BIOCHEMISTRY (2017)

Article Multidisciplinary Sciences

Phosphorylation of serine96 of histidine-rich calcium- binding protein by the Fam20C kinase functions to prevent cardiac arrhythmia

Adam J. Pollak et al.

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2017)

Article Anatomy & Morphology

Sortilin Fragments Deposit at Senile Plaques in Human Cerebrum

Xia Hu et al.

FRONTIERS IN NEUROANATOMY (2017)

Review Pharmacology & Pharmacy

Casein kinases as potential therapeutic targets

Giorgio Cozza et al.

EXPERT OPINION ON THERAPEUTIC TARGETS (2016)

Article Genetics & Heredity

Non lethal Raine syndrome and differential diagnosis

Siham Chafai Elalaoui et al.

EUROPEAN JOURNAL OF MEDICAL GENETICS (2016)

Article Medicine, Research & Experimental

Sortilin mediates vascular calcification via its recruitment into extracellular vesicles

Claudia Goettsch et al.

JOURNAL OF CLINICAL INVESTIGATION (2016)

Article Cell Biology

MEPE Localization in the Craniofacial Complex and Function in Tooth Dentin Formation

Angela Gullard et al.

JOURNAL OF HISTOCHEMISTRY & CYTOCHEMISTRY (2016)

Article Multidisciplinary Sciences

Analytic framework for peptidomics applied to large-scale neuropeptide identification

Anna Secher et al.

NATURE COMMUNICATIONS (2016)

Article Genetics & Heredity

Report of a case of Raine syndrome and literature review

Mohammed Zain Seidahmed et al.

AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2015)

Article Biochemistry & Molecular Biology

The secretory pathway kinases

Anju Sreelatha et al.

BIOCHIMICA ET BIOPHYSICA ACTA-PROTEINS AND PROTEOMICS (2015)

Article Endocrinology & Metabolism

Age dependent regulation of bone-mass and renal function by the MEPE ASARM-motif

Lesya V. Zelenchuk et al.

Article Biochemistry & Molecular Biology

A Single Kinase Generates the Majority of the Secreted Phosphoproteome

Vincent S. Tagliabracci et al.

Article Genetics & Heredity

Enamel-Renal-Gingival Syndrome and FAM20A Mutations

Piranit Nik Kantaputra et al.

AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2014)

Article Biochemistry & Molecular Biology

Osteopontin mediates mineralization and not osteogenic cell development in vitro

Erik Holm et al.

BIOCHEMICAL JOURNAL (2014)

Article Neurosciences

The Implications of Sortilin/Vps10p Domain Receptors in Neurological and Human Diseases

Cornelia M. Wilson et al.

CNS & NEUROLOGICAL DISORDERS-DRUG TARGETS (2014)

Article Cell Biology

Overexpression of Dmp1 fails to rescue the bone and dentin defects in Fam20C knockout mice

Xiaofang Wang et al.

CONNECTIVE TISSUE RESEARCH (2014)

Review Genetics & Heredity

Raine syndrome: An overview

Victor Faundes et al.

EUROPEAN JOURNAL OF MEDICAL GENETICS (2014)

Article Endocrinology & Metabolism

Increased Osteopontin Contributes to Inhibition of Bone Mineralization in FGF23-Deficient Mice

Quan Yuan et al.

JOURNAL OF BONE AND MINERAL RESEARCH (2014)

Article Multidisciplinary Sciences

FGF23 Deficiency Leads to Mixed Hearing Loss and Middle Ear Malformation in Mice

Andrew C. Lysaght et al.

PLOS ONE (2014)

Article Multidisciplinary Sciences

Osteocyte-Specific Deletion of Fgfr1 Suppresses FGF23

Zhousheng Xiao et al.

PLOS ONE (2014)

Article Multidisciplinary Sciences

Xylose phosphorylation functions as a molecular switch to regulate proteoglycan biosynthesis

Jianzhong Wen et al.

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2014)

Article Multidisciplinary Sciences

Dynamic regulation of FGF23 by Fam20C phosphorylation, GalNAc-T3 glycosylation, and furin proteolysis

Vincent S. Tagliabracci et al.

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2014)

Article Genetics & Heredity

Hereditary Deletion of the Entire FAM20C Gene in a Patient With Raine Syndrome

Farouq K. Ababneh et al.

AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2013)

Article Dentistry, Oral Surgery & Medicine

Deficiency in Acellular Cementum and Periodontal Attachment in Bsp Null Mice

B. L. Foster et al.

JOURNAL OF DENTAL RESEARCH (2013)

Article Dentistry, Oral Surgery & Medicine

The Specific Role of FAM20C in Amelogenesis

X. Wang et al.

JOURNAL OF DENTAL RESEARCH (2013)

Article Biochemical Research Methods

A structural and functional model for human bone sialoprotein

Kevin Vincent et al.

JOURNAL OF MOLECULAR GRAPHICS & MODELLING (2013)

Article Multidisciplinary Sciences

Crystal structure of the Golgi casein kinase

Junyu Xiao et al.

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2013)

Review Biochemistry & Molecular Biology

Secreted protein kinases

Vincent S. Tagliabracci et al.

TRENDS IN BIOCHEMICAL SCIENCES (2013)

Article Dentistry, Oral Surgery & Medicine

Dentin sialophosphoprotein and dentin matrix protein-1: Two highly phosphorylated proteins in mineralized tissues

Shigeki Suzuki et al.

ARCHIVES OF ORAL BIOLOGY (2012)

Review Biotechnology & Applied Microbiology

The biology and therapeutic targeting of the proprotein convertases

Nabil G. Seidah et al.

NATURE REVIEWS DRUG DISCOVERY (2012)

Article Multidisciplinary Sciences

The Raine Syndrome Protein FAM20C Is a Golgi Kinase That Phosphorylates Bio-Mineralization Proteins

Hiroyuki O. Ishikawa et al.

PLOS ONE (2012)

Article Multidisciplinary Sciences

Secreted Kinase Phosphorylates Extracellular Proteins That Regulate Biomineralization

Vincent S. Tagliabracci et al.

SCIENCE (2012)

Article Genetics & Heredity

Osteosclerotic bone dysplasia in siblings with a Fam20C mutation

M. Fradin et al.

CLINICAL GENETICS (2011)

Article Biochemistry & Molecular Biology

BACE1 Retrograde Trafficking Is Uniquely Regulated by the Cytoplasmic Domain of Sortilin

Gina M. Finan et al.

JOURNAL OF BIOLOGICAL CHEMISTRY (2011)

Article Endocrinology & Metabolism

The Biological Function of DMP-1 in Osteocyte Maturation Is Mediated by Its 57-kDa C-terminal Fragment

Yongbo Lu et al.

JOURNAL OF BONE AND MINERAL RESEARCH (2011)

Article Biochemistry & Molecular Biology

Possible role of DMP1 in dentin mineralization

Elia Beniash et al.

JOURNAL OF STRUCTURAL BIOLOGY (2011)

Article Pediatrics

Raine syndrome: expanding the radiological spectrum

Meriam Koob et al.

PEDIATRIC RADIOLOGY (2011)

Article Biochemistry & Molecular Biology

System-Wide Temporal Characterization of the Proteome and Phosphoproteome of Human Embryonic Stem Cell Differentiation

Kristoffer T. G. Rigbolt et al.

SCIENCE SIGNALING (2011)

Article Physiology

ASARM peptides: PHEX-dependent and -independent regulation of serum phosphate

Valentin David et al.

AMERICAN JOURNAL OF PHYSIOLOGY-RENAL PHYSIOLOGY (2011)

Article Radiology, Nuclear Medicine & Medical Imaging

Raine Syndrome

Kim Michael et al.

JOURNAL OF DIAGNOSTIC MEDICAL SONOGRAPHY (2011)

Article Biochemistry & Molecular Biology

Differentiation of odontoblasts is negatively regulated by MEPE via its C-terminal fragment

Hanguo Wang et al.

BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS (2010)

Article Biochemistry & Molecular Biology

Phosphorylation of Ser136 is critical for potent bone sialoprotein-mediated nucleation of hydroxyapatite crystals

Gurpreet S. Baht et al.

BIOCHEMICAL JOURNAL (2010)

Article Genetics & Heredity

Raine syndrome: a clinical, radiographic and genetic investigation of a case from the Indian subcontinent

Gurpreet Singh Kochar et al.

CLINICAL DYSMORPHOLOGY (2010)

Article Endocrinology & Metabolism

Phosphorylation-Dependent Inhibition of Mineralization by Osteopontin ASARM Peptides Is Regulated by PHEX Cleavage

William N. Addison et al.

JOURNAL OF BONE AND MINERAL RESEARCH (2010)

Article Dentistry, Oral Surgery & Medicine

Different Forms of DMP1 Play Distinct Roles in Mineralization

A. Gericke et al.

JOURNAL OF DENTAL RESEARCH (2010)

Article Biochemistry & Molecular Biology

FAM20B is a kinase that phosphorylates xylose in the glycosaminoglycan-protein linkage region

Toshiyasu Koike et al.

BIOCHEMICAL JOURNAL (2009)

Article Endocrinology & Metabolism

Molecular analysis of DMP1 mutants causing autosomal recessive hypophosphatemic rickets

Emily G. Farrow et al.

Article Genetics & Heredity

Mutations in FAM20C also identified in non-lethal osteosclerotic bone dysplasia

M. A. Simpson et al.

CLINICAL GENETICS (2009)

Article Medicine, Research & Experimental

Recent advances in the renal-skeletal-gut axis that controls phosphate homeostasis

Pawel R. Kiela et al.

LABORATORY INVESTIGATION (2009)

Article Immunology

Bone sialoprotein plays a functional role in bone formation and osteoclastogenesis

Luc Malaval et al.

JOURNAL OF EXPERIMENTAL MEDICINE (2008)

Article Urology & Nephrology

Matrix Extracellular Phosphoglycoprotein Inhibits Phosphate Transport

Joanne Marks et al.

JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY (2008)

Review Neurosciences

VPS10P-domain receptors - regulators of neuronal viability and function

Thomas E. Willnow et al.

NATURE REVIEWS NEUROSCIENCE (2008)

Article Multidisciplinary Sciences

A translocation causing increased α-Klotho level results in hypophosphatemic rickets and hyperparathyroidism

Catherine A. Brownstein et al.

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2008)

Article Genetics & Heredity

A rare lethal osteosclerotic bone dysplasia. prenatal diagnosis, autopsy, and neuropathological findings

David Chitayat et al.

AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2007)

Review Dentistry, Oral Surgery & Medicine

Dentin matrix protein 1 (DMP1): New and important roles for biomineralization and phosphate homeostasis

C. Qin et al.

JOURNAL OF DENTAL RESEARCH (2007)

Article Medicine, Research & Experimental

The parathyroid is a target organ for FGF23 in rats

Iddo Z. Ben-Dov et al.

JOURNAL OF CLINICAL INVESTIGATION (2007)

Article Medicine, General & Internal

Sequence variations in PCSK9, low LDL, and protection against coronary heart disease

JC Cohen et al.

NEW ENGLAND JOURNAL OF MEDICINE (2006)

Article Biochemistry & Molecular Biology

Regulation of fibroblast growth factor-23 signaling by Klotho

H Kurosu et al.

JOURNAL OF BIOLOGICAL CHEMISTRY (2006)

Article Endocrinology & Metabolism

Importance of phosphorylation for osteopontin regulation of biomineralization

A Gericke et al.

CALCIFIED TISSUE INTERNATIONAL (2005)

Article Biochemistry & Molecular Biology

Dmp1-deficient mice display severe defects in cartilage formation responsible for a chondrodysplasia-like phenotype

L Ye et al.

JOURNAL OF BIOLOGICAL CHEMISTRY (2005)

Article Biotechnology & Applied Microbiology

FAM20: an evolutionarily conserved family of secreted proteins expressed in hematopoietic cells

D Nalbant et al.

BMC GENOMICS (2005)

Article Biochemistry & Molecular Biology

FGF-23 transgenic mice demonstrate hypophosphatemic rickets with reduced expression of sodium phosphate cotransporter type IIa

T Shimada et al.

BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS (2004)

Review Dentistry, Oral Surgery & Medicine

The wrickkened pathways of FGF23, MEPE and PHEX

PSN Rowe

CRITICAL REVIEWS IN ORAL BIOLOGY & MEDICINE (2004)

Article Cell Biology

Mepe is expressed during skeletal development and regeneration

CY Lu et al.

HISTOCHEMISTRY AND CELL BIOLOGY (2004)

Article Genetics & Heredity

Mutations in PCSK9 cause autosomal dominant hypercholesterolemia

M Abifadel et al.

NATURE GENETICS (2003)

Article Endocrinology & Metabolism

Osteopontin deficiency induces parathyroid hormone enhancement of cortical bone formation

K Kitahara et al.

ENDOCRINOLOGY (2003)

Article Genetics & Heredity

Further delineation of Raine syndrome

LI Al-Gazali et al.

CLINICAL DYSMORPHOLOGY (2003)

Article Biochemistry & Molecular Biology

Targeted disruption of the osteoblast/osteocyte factor 45 gene (OF45) results in increased bone formation and bone mass

LC Gowen et al.

JOURNAL OF BIOLOGICAL CHEMISTRY (2003)

Article Biochemistry & Molecular Biology

Inhibition of MEPE cleavage by Phex

R Guo et al.

BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS (2002)

Article Clinical Neurology

Neuropathology of Raine syndrome

CH Rickert et al.

ACTA NEUROPATHOLOGICA (2002)

Letter Genetics & Heredity

Raine syndrome: report of a case with hand and foot anomalies

T Mahafza et al.

CLINICAL DYSMORPHOLOGY (2001)

Article Genetics & Heredity

Autosomal dominant hypophosphataemic rickets is associated with mutations in FGF23

KE White et al.

NATURE GENETICS (2000)

Article Genetics & Heredity

Raine dysplasia: a Brazilian case with a mild radiological involvement

AX Acosta et al.

CLINICAL DYSMORPHOLOGY (2000)