Molecular Characterization of Three Canine Models of Human Rare Bone Diseases: Caffey, van den Ende-Gupta, and Raine Syndromes

Variability of systemic and oro-dental phenotype in two families with non-lethal Raine syndrome with FAM20C mutations

(2015) Ana Carolina Acevedo et al.   BMC Medical Genetics

Dissecting high from low responders in a vitamin D3 intervention study

(2015) Noora Saksa et al.   JOURNAL OF STEROID BIOCHEMISTRY AND MOLECULAR BIOLOGY

A Missense Change in the ATG4D Gene Links Aberrant Autophagy to a Neurodegenerative Vacuolar Storage Disease

(2015) Kaisa Kyöstilä et al.   PLoS Genetics

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

(2014) Shinji Takeyari et al.   BONE

Caffey disease: New perspectives on old questions

(2014) Harikiran Nistala et al.   BONE

Two Japanese familial cases of Caffey disease with and without the common COL1A1 mutation and normal bone density, and review of the literature

(2014) Taichi Kitaoka et al.   EUROPEAN JOURNAL OF PEDIATRICS

The Specific Role of FAM20C in Dentinogenesis

(2014) X. Wang et al.   JOURNAL OF DENTAL RESEARCH

A Mutation in the FAM83G Gene in Dogs with Hereditary Footpad Hyperkeratosis (HFH)

(2014) Michaela Drögemüller et al.   PLoS Genetics

Hereditary deletion of the entireFAM20Cgene in a patient with Raine syndrome

(2013) Farouq K. Ababneh et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Exome sequencing reveals FAM20c mutations associated with fibroblast growth factor 23-related hypophosphatemia, dental anomalies, and ectopic calcification

(2013) Silje Hjorth Rafaelsen et al.   JOURNAL OF BONE AND MINERAL RESEARCH

The Specific Role of FAM20C in Amelogenesis

(2013) X. Wang et al.   JOURNAL OF DENTAL RESEARCH

A CNGB1 Frameshift Mutation in Papillon and Phalène Dogs with Progressive Retinal Atrophy

(2013) Saija J. Ahonen et al.   PLoS One

Human retinal gene therapy for Leber congenital amaurosis shows advancing retinal degeneration despite enduring visual improvement

(2013) A. V. Cideciyan et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

FAM20C Plays an Essential Role in the Formation of Murine Teeth

(2012) Xiaofang Wang et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Next-generation sequencing: impact of exome sequencing in characterizing Mendelian disorders

(2012) Bahareh Rabbani et al.   JOURNAL OF HUMAN GENETICS

A Novel GUSB Mutation in Brazilian Terriers with Severe Skeletal Abnormalities Defines the Disease as Mucopolysaccharidosis VII

(2012) Marjo K. Hytönen et al.   PLoS One

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

(2012) Hiroyuki O. Ishikawa et al.   PLoS One

Secreted Kinase Phosphorylates Extracellular Proteins That Regulate Biomineralization

(2012) V. S. Tagliabracci et al.   SCIENCE

Canine perinatal mortality: A cohort study of 224 breeds

(2012) R. Tønnessen et al.   THERIOGENOLOGY

Inactivation of a Novel FGF23 Regulator, FAM20C, Leads to Hypophosphatemic Rickets in Mice

(2012) Xiaofang Wang et al.   PLoS Genetics

Mutations in SCARF2 Are Responsible for Van Den Ende-Gupta Syndrome

(2010) Natascia Anastasio et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Osteosclerotic bone dysplasia in siblings with a Fam20C mutation

(2010) M Fradin et al.   CLINICAL GENETICS

A method and server for predicting damaging missense mutations

(2010) Ivan A Adzhubei et al.   NATURE METHODS

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

(2009) MA Simpson et al.   CLINICAL GENETICS

Proteomic profile of osteoclast membrane proteins: Identification of Na+/H+exchanger domain containing 2 and its role in osteoclast fusion

(2008) Byung Geun Ha et al.   PROTEOMICS